Phenotypic Mutation 'mcduck' (pdf version)
Allelemcduck
Mutation Type critical splice donor site (2 bp from exon)
Chromosome10
Coordinate74,462,676 bp (GRCm39)
Base Change T ⇒ A (forward strand)
Gene Pcdh15
Gene Name protocadherin 15
Synonym(s) Gm9815, nmf19, roda, Ush1f
Chromosomal Location 72,935,174-74,485,569 bp (+) (GRCm39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers. [provided by MGI curators]
Accession Number

NCBI RefSeq: NM_023115.3, NM_001142735.1, NM_001142736.1, NM_001142737.1, NM_001142740.1, NM_001142738.1, NM_001142739.1, NM_001142741.1, NM_001142742.1, NM_001142743.1, NM_001142746.1, NM_001142760.1, NM_001142747.1, NM_001142748.1; MGI: 1891428

MappedYes 
Amino Acid Change
Institutional SourceBeutler Lab
Gene Model predicted gene model for protein(s): [ENSMUSP00000068561 †] [ENSMUSP00000090076 †] [ENSMUSP00000101064 †] [ENSMUSP00000101066 †] [ENSMUSP00000101069 †] [ENSMUSP00000121130 †] [ENSMUSP00000114326 †] [ENSMUSP00000121939 †] [ENSMUSP00000117731 †] [ENSMUSP00000122911 †] [ENSMUSP00000122466 †] [ENSMUSP00000121534 †] [ENSMUSP00000122606 †] [ENSMUSP00000122940 †] [ENSMUSP00000118833 †] [ENSMUSP00000119662 †] [ENSMUSP00000118201] [ENSMUSP00000115399] [ENSMUSP00000134863] [ENSMUSP00000135501 †] [ENSMUSP00000142313 †] [ENSMUSP00000141973 †] [ENSMUSP00000142238 †] [ENSMUSP00000141792 †] [ENSMUSP00000142173 †] [ENSMUSP00000141594 †] [ENSMUSP00000141920 †] [ENSMUSP00000123647] [ENSMUSP00000135495]   † probably from a misspliced transcript
AlphaFold Q99PJ1
SMART Domains Protein: ENSMUSP00000068561
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 644 2.34e-16 SMART
CA 668 746 1.93e-26 SMART
CA 770 853 5.69e-15 SMART
CA 877 963 6.85e-9 SMART
CA 984 1071 3.09e-16 SMART
CA 1095 1179 4.49e-4 SMART
transmembrane domain 1304 1326 N/A INTRINSIC
low complexity region 1347 1374 N/A INTRINSIC
low complexity region 1583 1600 N/A INTRINSIC
low complexity region 1662 1682 N/A INTRINSIC
low complexity region 1689 1702 N/A INTRINSIC
low complexity region 1706 1756 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000068561
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 644 2.34e-16 SMART
CA 668 746 1.93e-26 SMART
CA 770 853 5.69e-15 SMART
CA 877 963 6.85e-9 SMART
CA 984 1071 3.09e-16 SMART
CA 1095 1179 4.49e-4 SMART
transmembrane domain 1304 1326 N/A INTRINSIC
low complexity region 1347 1374 N/A INTRINSIC
low complexity region 1583 1600 N/A INTRINSIC
low complexity region 1662 1682 N/A INTRINSIC
low complexity region 1689 1702 N/A INTRINSIC
low complexity region 1706 1756 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000090076
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1377 1399 N/A INTRINSIC
low complexity region 1415 1442 N/A INTRINSIC
low complexity region 1651 1668 N/A INTRINSIC
low complexity region 1730 1750 N/A INTRINSIC
low complexity region 1757 1770 N/A INTRINSIC
low complexity region 1774 1824 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000101064
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
low complexity region 1656 1673 N/A INTRINSIC
low complexity region 1735 1755 N/A INTRINSIC
low complexity region 1762 1775 N/A INTRINSIC
low complexity region 1779 1829 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000101064
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
low complexity region 1656 1673 N/A INTRINSIC
low complexity region 1735 1755 N/A INTRINSIC
low complexity region 1762 1775 N/A INTRINSIC
low complexity region 1779 1829 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000101066
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1380 1402 N/A INTRINSIC
low complexity region 1423 1450 N/A INTRINSIC
low complexity region 1661 1678 N/A INTRINSIC
low complexity region 1740 1760 N/A INTRINSIC
low complexity region 1767 1780 N/A INTRINSIC
low complexity region 1784 1834 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000101066
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1380 1402 N/A INTRINSIC
low complexity region 1423 1450 N/A INTRINSIC
low complexity region 1661 1678 N/A INTRINSIC
low complexity region 1740 1760 N/A INTRINSIC
low complexity region 1767 1780 N/A INTRINSIC
low complexity region 1784 1834 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000101069
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 644 2.34e-16 SMART
CA 668 746 1.93e-26 SMART
CA 770 853 5.69e-15 SMART
CA 877 963 6.85e-9 SMART
CA 984 1071 3.09e-16 SMART
CA 1095 1179 4.49e-4 SMART
transmembrane domain 1304 1326 N/A INTRINSIC
low complexity region 1347 1374 N/A INTRINSIC
low complexity region 1585 1602 N/A INTRINSIC
low complexity region 1664 1684 N/A INTRINSIC
low complexity region 1691 1704 N/A INTRINSIC
low complexity region 1708 1758 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000101069
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 644 2.34e-16 SMART
CA 668 746 1.93e-26 SMART
CA 770 853 5.69e-15 SMART
CA 877 963 6.85e-9 SMART
CA 984 1071 3.09e-16 SMART
CA 1095 1179 4.49e-4 SMART
transmembrane domain 1304 1326 N/A INTRINSIC
low complexity region 1347 1374 N/A INTRINSIC
low complexity region 1585 1602 N/A INTRINSIC
low complexity region 1664 1684 N/A INTRINSIC
low complexity region 1691 1704 N/A INTRINSIC
low complexity region 1708 1758 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000121130
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
CA 30 118 7.87e-9 SMART
CA 142 224 4.88e-14 SMART
CA 249 326 4.65e-20 SMART
CA 350 428 1.93e-26 SMART
CA 452 535 5.69e-15 SMART
CA 559 645 6.85e-9 SMART
CA 666 753 3.09e-16 SMART
CA 777 861 4.49e-4 SMART
transmembrane domain 986 1008 N/A INTRINSIC
low complexity region 1029 1056 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000121130
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
CA 30 118 7.87e-9 SMART
CA 142 224 4.88e-14 SMART
CA 249 326 4.65e-20 SMART
CA 350 428 1.93e-26 SMART
CA 452 535 5.69e-15 SMART
CA 559 645 6.85e-9 SMART
CA 666 753 3.09e-16 SMART
CA 777 861 4.49e-4 SMART
transmembrane domain 986 1008 N/A INTRINSIC
low complexity region 1029 1056 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000114326
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
low complexity region 649 665 N/A INTRINSIC
Predicted Effect probably benign
SMART Domains Protein: ENSMUSP00000121939
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 42 123 1.22e-1 SMART
CA 152 241 5.48e-8 SMART
CA 282 371 1.94e-8 SMART
CA 404 485 2.29e-10 SMART
CA 509 591 4.88e-14 SMART
CA 616 693 4.65e-20 SMART
CA 717 795 1.93e-26 SMART
CA 819 902 5.69e-15 SMART
CA 926 1012 6.85e-9 SMART
CA 1033 1120 3.09e-16 SMART
CA 1144 1228 4.49e-4 SMART
transmembrane domain 1353 1375 N/A INTRINSIC
low complexity region 1396 1423 N/A INTRINSIC
low complexity region 1634 1651 N/A INTRINSIC
low complexity region 1713 1733 N/A INTRINSIC
low complexity region 1740 1753 N/A INTRINSIC
low complexity region 1757 1807 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000121939
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 42 123 1.22e-1 SMART
CA 152 241 5.48e-8 SMART
CA 282 371 1.94e-8 SMART
CA 404 485 2.29e-10 SMART
CA 509 591 4.88e-14 SMART
CA 616 693 4.65e-20 SMART
CA 717 795 1.93e-26 SMART
CA 819 902 5.69e-15 SMART
CA 926 1012 6.85e-9 SMART
CA 1033 1120 3.09e-16 SMART
CA 1144 1228 4.49e-4 SMART
transmembrane domain 1353 1375 N/A INTRINSIC
low complexity region 1396 1423 N/A INTRINSIC
low complexity region 1634 1651 N/A INTRINSIC
low complexity region 1713 1733 N/A INTRINSIC
low complexity region 1740 1753 N/A INTRINSIC
low complexity region 1757 1807 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000117731
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 42 123 1.22e-1 SMART
CA 152 241 5.48e-8 SMART
CA 282 371 1.94e-8 SMART
CA 404 485 2.29e-10 SMART
CA 509 591 4.88e-14 SMART
CA 616 693 4.65e-20 SMART
CA 717 795 1.93e-26 SMART
CA 819 902 5.69e-15 SMART
CA 926 1012 6.85e-9 SMART
CA 1033 1120 3.09e-16 SMART
CA 1144 1228 4.49e-4 SMART
transmembrane domain 1355 1377 N/A INTRINSIC
low complexity region 1393 1420 N/A INTRINSIC
low complexity region 1631 1648 N/A INTRINSIC
low complexity region 1710 1730 N/A INTRINSIC
low complexity region 1737 1750 N/A INTRINSIC
low complexity region 1754 1804 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000117731
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 42 123 1.22e-1 SMART
CA 152 241 5.48e-8 SMART
CA 282 371 1.94e-8 SMART
CA 404 485 2.29e-10 SMART
CA 509 591 4.88e-14 SMART
CA 616 693 4.65e-20 SMART
CA 717 795 1.93e-26 SMART
CA 819 902 5.69e-15 SMART
CA 926 1012 6.85e-9 SMART
CA 1033 1120 3.09e-16 SMART
CA 1144 1228 4.49e-4 SMART
transmembrane domain 1355 1377 N/A INTRINSIC
low complexity region 1393 1420 N/A INTRINSIC
low complexity region 1631 1648 N/A INTRINSIC
low complexity region 1710 1730 N/A INTRINSIC
low complexity region 1737 1750 N/A INTRINSIC
low complexity region 1754 1804 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000122911
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
low complexity region 1654 1671 N/A INTRINSIC
low complexity region 1733 1753 N/A INTRINSIC
low complexity region 1760 1773 N/A INTRINSIC
low complexity region 1777 1827 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000122466
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000122466
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000121534
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
low complexity region 649 665 N/A INTRINSIC
Predicted Effect probably benign
SMART Domains Protein: ENSMUSP00000122606
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
low complexity region 313 326 N/A INTRINSIC
Predicted Effect probably benign
SMART Domains Protein: ENSMUSP00000122940
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
low complexity region 209 225 N/A INTRINSIC
CA 267 356 1.94e-8 SMART
CA 389 470 2.29e-10 SMART
CA 494 576 4.88e-14 SMART
CA 601 678 4.65e-20 SMART
CA 702 780 1.93e-26 SMART
CA 804 887 5.69e-15 SMART
CA 911 997 6.85e-9 SMART
CA 1018 1105 3.09e-16 SMART
CA 1129 1213 4.49e-4 SMART
transmembrane domain 1340 1362 N/A INTRINSIC
low complexity region 1378 1405 N/A INTRINSIC
low complexity region 1614 1631 N/A INTRINSIC
low complexity region 1693 1713 N/A INTRINSIC
low complexity region 1720 1733 N/A INTRINSIC
low complexity region 1737 1787 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000118833
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
low complexity region 1477 1494 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000118833
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
low complexity region 1477 1494 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000119662
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 519 7.87e-9 SMART
CA 543 625 4.88e-14 SMART
CA 650 727 4.65e-20 SMART
CA 751 829 1.93e-26 SMART
CA 853 936 5.69e-15 SMART
CA 960 1046 6.85e-9 SMART
CA 1067 1154 3.09e-16 SMART
CA 1178 1262 4.49e-4 SMART
transmembrane domain 1387 1409 N/A INTRINSIC
low complexity region 1430 1457 N/A INTRINSIC
low complexity region 1489 1519 N/A INTRINSIC
low complexity region 1521 1539 N/A INTRINSIC
low complexity region 1592 1655 N/A INTRINSIC
low complexity region 1681 1712 N/A INTRINSIC
low complexity region 1728 1756 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000119662
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 519 7.87e-9 SMART
CA 543 625 4.88e-14 SMART
CA 650 727 4.65e-20 SMART
CA 751 829 1.93e-26 SMART
CA 853 936 5.69e-15 SMART
CA 960 1046 6.85e-9 SMART
CA 1067 1154 3.09e-16 SMART
CA 1178 1262 4.49e-4 SMART
transmembrane domain 1387 1409 N/A INTRINSIC
low complexity region 1430 1457 N/A INTRINSIC
low complexity region 1489 1519 N/A INTRINSIC
low complexity region 1521 1539 N/A INTRINSIC
low complexity region 1592 1655 N/A INTRINSIC
low complexity region 1681 1712 N/A INTRINSIC
low complexity region 1728 1756 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000118201
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 6e-4 SMART
CA 174 263 2.8e-10 SMART
CA 304 393 9.4e-11 SMART
CA 426 507 1.2e-12 SMART
CA 531 613 2.3e-16 SMART
CA 638 726 3.4e-6 SMART
low complexity region 783 846 N/A INTRINSIC
low complexity region 872 903 N/A INTRINSIC
low complexity region 919 947 N/A INTRINSIC
Predicted Effect probably benign
SMART Domains Protein: ENSMUSP00000115399
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
low complexity region 430 468 N/A INTRINSIC
low complexity region 521 584 N/A INTRINSIC
low complexity region 610 641 N/A INTRINSIC
low complexity region 657 685 N/A INTRINSIC
Predicted Effect probably benign
SMART Domains Protein: ENSMUSP00000134863
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
transmembrane domain 128 150 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
Predicted Effect probably benign
SMART Domains Protein: ENSMUSP00000135501
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1380 1402 N/A INTRINSIC
low complexity region 1423 1450 N/A INTRINSIC
low complexity region 1482 1499 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000135501
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1380 1402 N/A INTRINSIC
low complexity region 1423 1450 N/A INTRINSIC
low complexity region 1482 1499 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000142313
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1380 1402 N/A INTRINSIC
low complexity region 1423 1450 N/A INTRINSIC
low complexity region 1480 1510 N/A INTRINSIC
low complexity region 1512 1530 N/A INTRINSIC
low complexity region 1583 1646 N/A INTRINSIC
low complexity region 1672 1703 N/A INTRINSIC
low complexity region 1719 1747 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000142313
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1380 1402 N/A INTRINSIC
low complexity region 1423 1450 N/A INTRINSIC
low complexity region 1480 1510 N/A INTRINSIC
low complexity region 1512 1530 N/A INTRINSIC
low complexity region 1583 1646 N/A INTRINSIC
low complexity region 1672 1703 N/A INTRINSIC
low complexity region 1719 1747 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000141973
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
low complexity region 1477 1494 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000141973
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
CA 304 393 1.94e-8 SMART
CA 426 507 2.29e-10 SMART
CA 531 613 4.88e-14 SMART
CA 638 715 4.65e-20 SMART
CA 739 817 1.93e-26 SMART
CA 841 924 5.69e-15 SMART
CA 948 1034 6.85e-9 SMART
CA 1055 1142 3.09e-16 SMART
CA 1166 1250 4.49e-4 SMART
transmembrane domain 1375 1397 N/A INTRINSIC
low complexity region 1418 1445 N/A INTRINSIC
low complexity region 1477 1494 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000142238
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 6e-4 SMART
CA 174 263 2.8e-10 SMART
CA 304 393 9.4e-11 SMART
CA 426 514 3.8e-11 SMART
CA 538 620 2.3e-16 SMART
CA 645 722 2.3e-22 SMART
CA 746 824 9.3e-29 SMART
CA 848 931 2.8e-17 SMART
CA 955 1041 3.3e-11 SMART
CA 1062 1149 1.5e-18 SMART
CA 1173 1257 2.3e-6 SMART
transmembrane domain 1382 1404 N/A INTRINSIC
low complexity region 1425 1452 N/A INTRINSIC
low complexity region 1482 1512 N/A INTRINSIC
low complexity region 1514 1532 N/A INTRINSIC
low complexity region 1585 1648 N/A INTRINSIC
low complexity region 1674 1705 N/A INTRINSIC
low complexity region 1721 1749 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000142238
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 6e-4 SMART
CA 174 263 2.8e-10 SMART
CA 304 393 9.4e-11 SMART
CA 426 514 3.8e-11 SMART
CA 538 620 2.3e-16 SMART
CA 645 722 2.3e-22 SMART
CA 746 824 9.3e-29 SMART
CA 848 931 2.8e-17 SMART
CA 955 1041 3.3e-11 SMART
CA 1062 1149 1.5e-18 SMART
CA 1173 1257 2.3e-6 SMART
transmembrane domain 1382 1404 N/A INTRINSIC
low complexity region 1425 1452 N/A INTRINSIC
low complexity region 1482 1512 N/A INTRINSIC
low complexity region 1514 1532 N/A INTRINSIC
low complexity region 1585 1648 N/A INTRINSIC
low complexity region 1674 1705 N/A INTRINSIC
low complexity region 1721 1749 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000141792
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1380 1402 N/A INTRINSIC
low complexity region 1423 1450 N/A INTRINSIC
low complexity region 1661 1678 N/A INTRINSIC
low complexity region 1740 1760 N/A INTRINSIC
low complexity region 1767 1780 N/A INTRINSIC
low complexity region 1784 1834 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000141792
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1380 1402 N/A INTRINSIC
low complexity region 1423 1450 N/A INTRINSIC
low complexity region 1661 1678 N/A INTRINSIC
low complexity region 1740 1760 N/A INTRINSIC
low complexity region 1767 1780 N/A INTRINSIC
low complexity region 1784 1834 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000142173
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1382 1404 N/A INTRINSIC
low complexity region 1420 1447 N/A INTRINSIC
low complexity region 1477 1494 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000142173
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 69 150 1.22e-1 SMART
CA 179 268 5.48e-8 SMART
CA 309 398 1.94e-8 SMART
CA 431 512 2.29e-10 SMART
CA 536 618 4.88e-14 SMART
CA 643 720 4.65e-20 SMART
CA 744 822 1.93e-26 SMART
CA 846 929 5.69e-15 SMART
CA 953 1039 6.85e-9 SMART
CA 1060 1147 3.09e-16 SMART
CA 1171 1255 4.49e-4 SMART
transmembrane domain 1382 1404 N/A INTRINSIC
low complexity region 1420 1447 N/A INTRINSIC
low complexity region 1477 1494 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000141594
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
CA 43 120 2.3e-22 SMART
CA 144 222 9.3e-29 SMART
CA 246 329 2.8e-17 SMART
CA 353 439 3.3e-11 SMART
CA 460 547 1.5e-18 SMART
CA 571 655 2.3e-6 SMART
transmembrane domain 780 802 N/A INTRINSIC
low complexity region 823 850 N/A INTRINSIC
low complexity region 1051 1068 N/A INTRINSIC
low complexity region 1130 1150 N/A INTRINSIC
low complexity region 1157 1170 N/A INTRINSIC
low complexity region 1174 1224 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000141594
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
CA 43 120 2.3e-22 SMART
CA 144 222 9.3e-29 SMART
CA 246 329 2.8e-17 SMART
CA 353 439 3.3e-11 SMART
CA 460 547 1.5e-18 SMART
CA 571 655 2.3e-6 SMART
transmembrane domain 780 802 N/A INTRINSIC
low complexity region 823 850 N/A INTRINSIC
low complexity region 1051 1068 N/A INTRINSIC
low complexity region 1130 1150 N/A INTRINSIC
low complexity region 1157 1170 N/A INTRINSIC
low complexity region 1174 1224 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000141920
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 6e-4 SMART
CA 174 263 2.8e-10 SMART
CA 304 393 9.4e-11 SMART
CA 426 507 1.2e-12 SMART
CA 531 613 2.3e-16 SMART
CA 638 715 2.3e-22 SMART
CA 739 817 9.3e-29 SMART
CA 841 924 2.8e-17 SMART
CA 948 1034 3.3e-11 SMART
CA 1055 1142 1.5e-18 SMART
CA 1166 1250 2.3e-6 SMART
transmembrane domain 1377 1399 N/A INTRINSIC
low complexity region 1415 1442 N/A INTRINSIC
low complexity region 1514 1531 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000141920
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 6e-4 SMART
CA 174 263 2.8e-10 SMART
CA 304 393 9.4e-11 SMART
CA 426 507 1.2e-12 SMART
CA 531 613 2.3e-16 SMART
CA 638 715 2.3e-22 SMART
CA 739 817 9.3e-29 SMART
CA 841 924 2.8e-17 SMART
CA 948 1034 3.3e-11 SMART
CA 1055 1142 1.5e-18 SMART
CA 1166 1250 2.3e-6 SMART
transmembrane domain 1377 1399 N/A INTRINSIC
low complexity region 1415 1442 N/A INTRINSIC
low complexity region 1514 1531 N/A INTRINSIC
Predicted Effect probably null
SMART Domains Protein: ENSMUSP00000123647
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
Blast:CA 304 363 1e-33 BLAST
low complexity region 364 399 N/A INTRINSIC
low complexity region 452 515 N/A INTRINSIC
low complexity region 541 572 N/A INTRINSIC
low complexity region 588 616 N/A INTRINSIC
Predicted Effect probably benign
SMART Domains Protein: ENSMUSP00000135495
Gene: ENSMUSG00000052613

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 64 145 1.22e-1 SMART
CA 174 263 5.48e-8 SMART
Blast:CA 304 330 2e-8 BLAST
Predicted Effect probably benign
Meta Mutation Damage Score 0.9487 question?
Is this an essential gene? Non Essential (E-score: 0.000) question?
Phenotypic Category Autosomal Recessive
Candidate Explorer Status loading ...
Single pedigree
Linkage Analysis Data
Penetrance  
Alleles Listed at MGI

All alleles(12) : Gene trapped(2) Transgenic(1) Spontaneous(6) Chemically induced(3) 

Lab Alleles
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Pcdh15 APN 10 74021177 nonsense probably null
IGL00432:Pcdh15 APN 10 74126914 splice site probably benign
IGL00533:Pcdh15 APN 10 74338552 missense probably damaging 1.00
IGL00596:Pcdh15 APN 10 74466576 missense probably benign 0.00
IGL00930:Pcdh15 APN 10 74466530 missense probably benign 0.08
IGL00970:Pcdh15 APN 10 74215172 missense probably damaging 1.00
IGL01087:Pcdh15 APN 10 74178464 missense possibly damaging 0.90
IGL01763:Pcdh15 APN 10 74046293 missense probably benign 0.09
IGL01787:Pcdh15 APN 10 74286115 missense probably benign 0.25
IGL02070:Pcdh15 APN 10 74466700 missense probably benign 0.00
IGL02234:Pcdh15 APN 10 74467694 missense probably benign 0.02
IGL02268:Pcdh15 APN 10 74178504 missense probably damaging 1.00
IGL02280:Pcdh15 APN 10 74058295 missense probably damaging 1.00
IGL02363:Pcdh15 APN 10 74152918 missense probably damaging 0.98
IGL02420:Pcdh15 APN 10 74138938 missense probably damaging 0.98
IGL02749:Pcdh15 APN 10 74466900 missense probably benign 0.00
IGL02939:Pcdh15 APN 10 74340648 splice site probably benign
IGL02970:Pcdh15 APN 10 74126794 splice site probably benign
IGL03010:Pcdh15 APN 10 74221777 missense probably damaging 1.00
IGL03061:Pcdh15 APN 10 74152843 missense probably damaging 0.97
IGL03095:Pcdh15 APN 10 74191706 missense probably damaging 1.00
IGL03149:Pcdh15 APN 10 74466527 missense probably damaging 1.00
IGL03187:Pcdh15 APN 10 74191706 missense probably damaging 1.00
IGL03279:Pcdh15 APN 10 74152904 missense probably damaging 1.00
IGL03392:Pcdh15 APN 10 74460104 missense probably damaging 1.00
loop UTSW 10 74021210 missense probably damaging 1.00
spaz UTSW 10 74046257 missense probably damaging 1.00
sphere UTSW 10 74460116 missense probably damaging 1.00
squirm UTSW 10 large deletion
Tortilla UTSW 10 74215249 splice site probably null
1mM(1):Pcdh15 UTSW 10 74461969 intron probably benign
BB009:Pcdh15 UTSW 10 74481359 missense probably benign 0.18
BB019:Pcdh15 UTSW 10 74481359 missense probably benign 0.18
R0038:Pcdh15 UTSW 10 74479272 missense possibly damaging 0.95
R0103:Pcdh15 UTSW 10 74046257 missense probably damaging 1.00
R0110:Pcdh15 UTSW 10 74126808 missense probably damaging 1.00
R0111:Pcdh15 UTSW 10 74462651 nonsense probably null
R0119:Pcdh15 UTSW 10 74006407 missense probably damaging 1.00
R0131:Pcdh15 UTSW 10 74006440 missense probably null 1.00
R0445:Pcdh15 UTSW 10 74178381 missense probably damaging 1.00
R0464:Pcdh15 UTSW 10 74462676 critical splice donor site probably null
R0503:Pcdh15 UTSW 10 74046217 missense probably damaging 1.00
R0507:Pcdh15 UTSW 10 74457129 missense probably damaging 1.00
R0510:Pcdh15 UTSW 10 74126808 missense probably damaging 1.00
R0742:Pcdh15 UTSW 10 74457129 missense probably damaging 1.00
R0790:Pcdh15 UTSW 10 74466885 missense probably benign 0.01
R0829:Pcdh15 UTSW 10 74338598 missense probably damaging 1.00
R0839:Pcdh15 UTSW 10 74462614 missense probably null 1.00
R0882:Pcdh15 UTSW 10 74178488 missense probably damaging 1.00
R0894:Pcdh15 UTSW 10 74460087 missense probably damaging 1.00
R0944:Pcdh15 UTSW 10 74046302 missense probably damaging 0.99
R1081:Pcdh15 UTSW 10 74286145 missense probably damaging 1.00
R1148:Pcdh15 UTSW 10 74006392 missense probably damaging 1.00
R1148:Pcdh15 UTSW 10 74006392 missense probably damaging 1.00
R1484:Pcdh15 UTSW 10 74126833 missense probably damaging 1.00
R1521:Pcdh15 UTSW 10 74430023 missense probably damaging 1.00
R1694:Pcdh15 UTSW 10 74429995 missense probably damaging 1.00
R1795:Pcdh15 UTSW 10 74460087 missense probably damaging 1.00
R2021:Pcdh15 UTSW 10 74467025 missense possibly damaging 0.93
R2022:Pcdh15 UTSW 10 74467025 missense possibly damaging 0.93
R2023:Pcdh15 UTSW 10 74467025 missense possibly damaging 0.93
R2076:Pcdh15 UTSW 10 74178479 missense probably damaging 1.00
R2199:Pcdh15 UTSW 10 74006341 missense probably damaging 1.00
R2510:Pcdh15 UTSW 10 74467331 missense probably benign 0.39
R2511:Pcdh15 UTSW 10 74481828 missense possibly damaging 0.94
R3418:Pcdh15 UTSW 10 74420054 missense probably benign 0.12
R3419:Pcdh15 UTSW 10 74420054 missense probably benign 0.12
R3433:Pcdh15 UTSW 10 74467331 missense probably benign 0.39
R3619:Pcdh15 UTSW 10 74479227 missense probably benign 0.19
R3723:Pcdh15 UTSW 10 74481680 missense probably benign 0.05
R3724:Pcdh15 UTSW 10 74481680 missense probably benign 0.05
R3778:Pcdh15 UTSW 10 73782983 splice site probably null
R3851:Pcdh15 UTSW 10 74467518 missense probably damaging 0.97
R4175:Pcdh15 UTSW 10 74467829 intron probably benign
R4261:Pcdh15 UTSW 10 74481512 missense probably damaging 1.00
R4385:Pcdh15 UTSW 10 74386322 missense probably damaging 1.00
R4585:Pcdh15 UTSW 10 74460116 missense probably damaging 1.00
R4602:Pcdh15 UTSW 10 74430046 missense probably damaging 1.00
R4639:Pcdh15 UTSW 10 74479439 missense probably benign 0.00
R4703:Pcdh15 UTSW 10 74285995 missense probably damaging 1.00
R4819:Pcdh15 UTSW 10 74160221 missense probably damaging 1.00
R4906:Pcdh15 UTSW 10 74340625 nonsense probably null
R4961:Pcdh15 UTSW 10 74215249 splice site probably null
R5018:Pcdh15 UTSW 10 74479607 missense possibly damaging 0.68
R5125:Pcdh15 UTSW 10 74419912 missense probably damaging 0.98
R5225:Pcdh15 UTSW 10 74138986 missense probably damaging 1.00
R5259:Pcdh15 UTSW 10 74232204 missense possibly damaging 0.67
R5279:Pcdh15 UTSW 10 74430015 missense probably damaging 1.00
R5395:Pcdh15 UTSW 10 74021119 missense probably damaging 1.00
R5458:Pcdh15 UTSW 10 74340611 missense probably damaging 1.00
R5617:Pcdh15 UTSW 10 74471504 intron probably benign
R5665:Pcdh15 UTSW 10 74462620 missense probably damaging 1.00
R5770:Pcdh15 UTSW 10 74021177 nonsense probably null
R5805:Pcdh15 UTSW 10 74066091 missense probably damaging 1.00
R5914:Pcdh15 UTSW 10 74466768 missense probably benign 0.42
R5988:Pcdh15 UTSW 10 74215189 missense probably benign 0.05
R6133:Pcdh15 UTSW 10 74481805 splice site probably null
R6189:Pcdh15 UTSW 10 74178483 missense probably null 1.00
R6414:Pcdh15 UTSW 10 74021258 missense probably damaging 1.00
R6536:Pcdh15 UTSW 10 74467221 missense probably damaging 1.00
R6612:Pcdh15 UTSW 10 74021210 missense probably damaging 1.00
R6711:Pcdh15 UTSW 10 74478219 missense possibly damaging 0.83
R6793:Pcdh15 UTSW 10 74466971 missense probably damaging 1.00
R6841:Pcdh15 UTSW 10 74286052 missense probably damaging 1.00
R6845:Pcdh15 UTSW 10 74466465 missense probably benign
R6915:Pcdh15 UTSW 10 74479641 missense probably benign 0.16
R6954:Pcdh15 UTSW 10 74481821 missense possibly damaging 0.92
R6970:Pcdh15 UTSW 10 74338519 missense probably damaging 0.98
R7018:Pcdh15 UTSW 10 74302186 missense probably damaging 1.00
R7064:Pcdh15 UTSW 10 74466446 missense possibly damaging 0.67
R7079:Pcdh15 UTSW 10 74152957 missense probably benign 0.21
R7172:Pcdh15 UTSW 10 74338597 missense probably damaging 1.00
R7220:Pcdh15 UTSW 10 74178441 missense possibly damaging 0.64
R7237:Pcdh15 UTSW 10 74420023 missense possibly damaging 0.88
R7266:Pcdh15 UTSW 10 74215222 nonsense probably null
R7276:Pcdh15 UTSW 10 74160224 missense probably benign 0.25
R7359:Pcdh15 UTSW 10 74420048 missense probably damaging 0.99
R7396:Pcdh15 UTSW 10 74466522 missense probably benign 0.17
R7421:Pcdh15 UTSW 10 74289897 missense possibly damaging 0.90
R7424:Pcdh15 UTSW 10 74342317 missense probably benign 0.09
R7463:Pcdh15 UTSW 10 74467602 missense possibly damaging 0.66
R7469:Pcdh15 UTSW 10 74481812 missense probably benign
R7512:Pcdh15 UTSW 10 74477214 missense possibly damaging 0.81
R7767:Pcdh15 UTSW 10 74322088 missense probably benign 0.07
R7830:Pcdh15 UTSW 10 74221733 missense probably damaging 1.00
R7890:Pcdh15 UTSW 10 74478146 missense probably damaging 1.00
R7897:Pcdh15 UTSW 10 74289827 missense probably damaging 1.00
R7908:Pcdh15 UTSW 10 74479414 missense probably benign 0.04
R7932:Pcdh15 UTSW 10 74481359 missense probably benign 0.18
R7940:Pcdh15 UTSW 10 74430022 missense probably damaging 1.00
R8230:Pcdh15 UTSW 10 74191707 missense probably damaging 1.00
R8307:Pcdh15 UTSW 10 74342307 nonsense probably null
R8382:Pcdh15 UTSW 10 74479227 missense probably benign 0.19
R8397:Pcdh15 UTSW 10 74126865 missense probably damaging 1.00
R8498:Pcdh15 UTSW 10 74317974 missense probably damaging 1.00
R8692:Pcdh15 UTSW 10 74289805 missense possibly damaging 0.63
R8797:Pcdh15 UTSW 10 74419978 missense probably damaging 1.00
R9020:Pcdh15 UTSW 10 74481443 missense probably benign 0.01
R9033:Pcdh15 UTSW 10 74302138 missense probably damaging 1.00
R9056:Pcdh15 UTSW 10 74221731 missense probably damaging 1.00
R9177:Pcdh15 UTSW 10 74479455 missense probably benign 0.13
R9191:Pcdh15 UTSW 10 74161981 missense probably benign 0.38
R9268:Pcdh15 UTSW 10 74479455 missense probably benign 0.13
R9279:Pcdh15 UTSW 10 74461756 intron probably benign
R9294:Pcdh15 UTSW 10 74479560 missense unknown
R9387:Pcdh15 UTSW 10 74066192 missense probably damaging 0.98
R9409:Pcdh15 UTSW 10 74160190 missense probably damaging 0.98
R9410:Pcdh15 UTSW 10 74481663 frame shift probably null
R9412:Pcdh15 UTSW 10 74481663 frame shift probably null
R9432:Pcdh15 UTSW 10 74460170 missense probably damaging 1.00
R9444:Pcdh15 UTSW 10 74478176 missense probably damaging 1.00
R9579:Pcdh15 UTSW 10 74457117 missense possibly damaging 0.89
R9643:Pcdh15 UTSW 10 74479335 missense probably benign 0.18
R9784:Pcdh15 UTSW 10 74467212 missense probably benign 0.00
RF020:Pcdh15 UTSW 10 74021242 missense probably damaging 1.00
Z1176:Pcdh15 UTSW 10 74466533 missense probably benign 0.00
Z1177:Pcdh15 UTSW 10 74340632 missense probably damaging 1.00
Mode of Inheritance Autosomal Recessive
Local Stock Live Mice
MMRRC Submission 037097-MU
Last Updated 2019-07-25 10:43 AM by Diantha La Vine
Record Created 2013-08-07 9:43 AM by Chad Daniel
Record Posted 2014-03-28
Phenotypic Description

Figure 1. Video of the mcduck phenotype.

The mcduck phenotype was initially identified among N-ethyl-N-nitrosourea (ENU)-induced G3 animals. Mutants display hyperactivity and circling with frequent upward head bobbing. Homozygotes also wobble while walking (Figure 1).
Nature of Mutation

Whole exome HiSeq sequencing of the G1 grandsire identified 77 mutations. Five G3 mice with the mcduck phenotype and 60 unaffected mice from a single pedigree were genotyped at all mutation sites. One mutation, in Pcdh15, on chromosome 10 was homozygous in all five of the mcduck mice and either homozygous (n = 3), heterozygous (n = 38), or wild-type (n = 19) in the unaffected mice (-log10[p(non-linkage)] = 6.536). In addition, the mcduck phenotype resembles that of other Pcdh15 mutant mice (1-6), strongly supporting the mutation in Pcdh15 as causative.  The Pcdh15 mutation is a T to A transversion at base pair 74,626,844 on chromosome 10, corresponding to base pair 1,526,630 in GenBank genomic region NC_000076 encoding Pcdh15. Within transcript variant A encoding isoform CD1-1 (NP_075604.2), the mutation is located in the donor splice site of intron 33, two nucleotides from the previous exon; this transcript contains 35 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility, shown below, is that aberrant splicing may result in the skipping of the 156 base pair exon 33 and splicing from exon 32 to exon 34. The aberrant splicing would lead to a deletion of 52 amino acids, but no frameshift; the mis-spliced protein would end with the normal termination codon in exon 35. The Pcdh15 gene encodes multiple isoforms of the PCDH15 protein (2;7). Due to the complexity of the Pcdh15 genomic region and the presence of alternative exons, it is possible that mcduck mice still express potentially functional Pcdh15 isoforms, but this possibility has not been tested. 

      Exon 32          <--Exon 33-->           Intron 33-->    Exon 34  Exon 35-->

     GTTTAAAGT ACGCCAGGCTGAG………GGAGAGAGCGCAAT  gtgagtaatgagg……… GCATAA  TCTTTTCCTT………TCAACATCTTTGTAA
1407 --F--K--V --R--Q--A--E-………-G--E--S--A--M                   --H--N  --L--F--L-………-S--T--S--L--*-

      correct             deleted                                                correct

The donor splice site of intron 33 of Pcdh15, which is destroyed by the mutation is indicated in blue; the mutated nucleotide is indicated in red.

Illustration of Mutations in
Gene & Protein
Protein Prediction

Figure 2. Domain structures of Pcdh15 splice variants. PCDH15 isoforms consist of up to 11 extracellular cadherin (EC) repeats, one transmembrane domain and a variable cytoplasmic domain that contains a PDZ-binding motif (PBM).The four isoform classes are defined based upon the cytoplasmic tail variation or the absence of the tail. The isoforms CD1, CD2, and CD3 are full length and contain a cytoplasmic tail encoded by 35, 38, and 39 exons, respectively. Isoform S1 is predicted to be secreted, contains only 10 EC repeats and lacks a cytoplasmic tail. The mcduck mutation results in a critical splice donor mutation in intron 33. This image is interactive. Other mutations found in the protein are noted in red. Click on each allele for more information.

The mouse Pcdh15 gene encodes a protein that belongs to the protocadherin protein family. The mcduck mutation may result in skipping of exon 33, deleting 52 amino acids from the cytoplasmic domain adjacent to the membrane (transmembrane domain consists of amino acids 1380-1402; PCDH15-CD1; SMART). All membrane-anchored isoforms of PCDH15 (CD-1, CD-2, and CD-3 classes) are predicted to be affected by the mcduck mutation (Figure 2).

Please see the record squirm for information about Pcdh15.

Putative Mechanism

Mutations in Pcdh15 can cause disorganized stereocilia and cuticular plates. Human mutations that are predicted to truncate PCDH15 in the extracellular domain typically cause Usher syndrome (USH; OMIM: #602083), whereas missense mutations are commonly associated with non-syndromic deafness (DFNB23; OMIM #609533). USH syndrome is the most common type of deaf-blindness in humans. USH can be associated with vestibular dysfunction and balance problems, reduced odor identification, reduced sperm motility, mental deficiency, cerebral atrophy, and ataxia (8;9).

The mcduck phenotype mimics that of the Ames waltzer mouse model (Pcdh15av; av; MGI:1856467); homozygous Ames waltzer mice are characterized by circling, head-tossing, hyperactivity, impaired swimming and profound deafness due to defects in the cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula (1;2). In a second Pcdh15 mutant mouse model, Pcdh15av-3J (MGI:1856394), a spontaneous single-base insertion after base pair 4,521 in Pcdh15, was identified (2;6). The mutation results in a frameshift and a premature stop codon; the truncated protein lacks the cytoplasmic domain (2). The Pcdh15av-3J mouse exhibited circling, difficulty swimming, and deafness due to outer hair cell degeneration, disorganized reticular lamina, absent apical (lateral or tip) links, dissociated kinocilia from the stereociliary bundles, and distorted and irregular outer hair cell bundles within the organ of Corti (3-6). The findings from the Pcdh15av-3J mouse indicate that an intact cytoplasmic domain is necessary for the function of PCDH15 in hearing and vestibular function. 

Primers PCR Primer
mcduck_pcr_F: TACTCTACTCAAGACGCCAGGCTG
mcduck_pcr_R: ACTGTTCGAAGCACGCTGTATCAC

Sequencing Primer
mcduck_seq_F: CACGAAGACCGCAAGAATTC
mcduck_seq_R: AGCTGCGTCTAACATGGATATG
Genotyping

Mcduck genotyping is performed by amplifying the region containing the mutation using PCR followed by sequencing of the amplified region to detect the nucleotide change.  The following primers were used for PCR amplification:

Primers for PCR amplification

Mcduck(F):  5’- TACTCTACTCAAGACGCCAGGCTG-3’

Mcduck(R):  5’- ACTGTTCGAAGCACGCTGTATCAC-3’

PCR program

1) 94° C        2:00

2) 94° C        0:30

3) 57° C        0:30

4) 72° C        1:00

5) repeat steps (2-4) 29x

6) 72° C        7:00

7) 4° C           hold

Primers for sequencing

Mcduck(F):  5’- CACGAAGACCGCAAGAATTC-3’

Mcduck(R):  5’-AGCTGCGTCTAACATGGATATG-3’

The following sequence of 690 nucleotides (from Genbank genomic region NC_000076 of the linear genomic sequence of Pcdh15) is amplified:

tactctactc aagacgccag gctgagtgca cgaagaccgc aagaattcag tctgctatgc

ctgcagccaa gcctgcagct cctgtaccag ctgcgcctgc gccgcccccg cccccgccac

caccaccacc aggagcacat ctctatgaag aactgggaga gagcgcaatg tgagtaatga

gggaggataa ctgtgtgggt gcagtggatt ttgggagcaa agctagttcc aagctcagac

agatatacag ctgtcagccc attacagccc atcatcttat tattaagtct aaaatagctg

agaactcaag ttgagaaact gtagtgaaaa agaaaaagga aacaaatcaa gacaaaagga

aaagttacag aaaaaaatat atatataaac catatccatg ttagacgcag cttcaaatat

tatatttaat ctcccaatct taatgatatt tggacaattt tctgaacaaa attatagatt

ttcaaaaaag cagtcaagta ggagattgta atacatctga atggtaagac tgtaattctt

gatttgagat tttaaaaaaa aacctccaat ttatcaatca aaatcaaatt ctgtggttta

aaatcagatg ttaacatatt attatagaat attatatgaa ggaaagaata aaatatgcac

tactaagtga tacagcgtgc ttcgaacagt

PCR primer binding sites are underlined, and sequencing primer binding sites are highlighted; the mutated nucleotide is in red.

References
  6. Cook, S., and Lane, P. (1993) Re-Mutation to Ames Waltzer. Mouse Genome. 91, 554.
Science Writers Anne Murray
Illustrators Peter Jurek
AuthorsChad Daniel Tiana Purrington