Phenotypic Mutation 'Tortilla' (pdf version)
Allele | Tortilla |
Mutation Type |
splice site
|
Chromosome | 10 |
Coordinate | 74,215,249 bp (GRCm39) |
Base Change | G ⇒ T (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
|
Mapped | Yes |
Amino Acid Change |
|
Institutional Source | Beutler Lab |
Gene Model |
predicted gene model for protein(s):
[ENSMUSP00000068561]
[ENSMUSP00000090076 †]
[ENSMUSP00000101064 †]
[ENSMUSP00000101066 †]
[ENSMUSP00000101069]
[ENSMUSP00000121130 †]
[ENSMUSP00000120056 †]
[ENSMUSP00000118833 †]
[ENSMUSP00000117731 †]
[ENSMUSP00000118201 †]
[ENSMUSP00000121939 †]
[ENSMUSP00000122940 †]
[ENSMUSP00000122911 †]
[ENSMUSP00000122466 †]
[ENSMUSP00000119662 †]
[ENSMUSP00000115399]
[ENSMUSP00000120618]
[ENSMUSP00000121534]
[ENSMUSP00000122606]
[ENSMUSP00000134863]
[ENSMUSP00000114326]
[ENSMUSP00000142173 †]
[ENSMUSP00000142313 †]
[ENSMUSP00000142238 †]
[ENSMUSP00000141973 †]
[ENSMUSP00000141594 †]
[ENSMUSP00000141920 †]
[ENSMUSP00000135501 †]
[ENSMUSP00000141792 †]
[ENSMUSP00000135849 †]
[ENSMUSP00000123647]
[ENSMUSP00000135495]
† probably from a misspliced transcript
|
AlphaFold |
Q99PJ1 |
SMART Domains |
Protein: ENSMUSP00000068561 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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 benign
|
SMART Domains |
Protein: ENSMUSP00000090076 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 benign
|
SMART Domains |
Protein: ENSMUSP00000121130 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000120056 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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 |
1122 |
4.52e-2 |
SMART |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000118833 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000117731 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000118201 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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 null
|
SMART Domains |
Protein: ENSMUSP00000121939 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000122940 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000122911 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000119662 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000115399 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000120618 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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 |
513 |
2.52e-7 |
SMART |
CA
|
534 |
601 |
4.52e-2 |
SMART |
|
Predicted Effect |
probably benign
|
SMART Domains |
Protein: ENSMUSP00000121534 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000134863 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
|
SMART Domains |
Protein: ENSMUSP00000114326 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000142173 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000142313 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000142238 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000141973 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000141594 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000135501 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000141792 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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: ENSMUSP00000135849 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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 |
1127 |
4.52e-2 |
SMART |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000123647 Gene: ENSMUSG00000052613
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
0.9755 |
Is this an essential gene? |
Non Essential (E-score: 0.000) |
Phenotypic Category |
Autosomal Recessive |
Candidate Explorer Status |
loading ... |
Single pedigree Linkage Analysis Data
|
|
Penetrance | |
Alleles Listed at MGI | All alleles(20) : Chemically induced (ENU)(5) Chemically induced (other)(1) Gene trapped(2) Radiation induced(1) Transgenic(2) Spontaneous(6) Targeted(3)
|
Lab Alleles |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
mcduck
|
UTSW |
10 |
74462676 |
critical splice donor site |
probably null |
|
spaz
|
UTSW |
10 |
74046257 |
missense |
probably damaging |
1.00 |
sphere
|
UTSW |
10 |
74460116 |
missense |
probably damaging |
1.00 |
squirm
|
UTSW |
10 |
|
large deletion |
|
|
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 |
Repository | |
Last Updated |
2019-10-23 1:57 PM
by Diantha La Vine
|
Record Created |
2016-11-15 2:03 PM
by Jamie Russell
|
Record Posted |
2016-12-01 |
Phenotypic Description |
The tortilla phenotype was initially identified among N-ethyl-N-nitrosourea (ENU)-induced G3 mice of the pedigree R4192. Mutants display ataxia, hyperactivity and circling (Figure 1).
|
Nature of Mutation |
Whole exome HiSeq sequencing of the G1 grandsire identified 40 mutations. The behavioral phenotype was linked to a mutation in Pcdh15: a G to T transversion at base pair 74,379,417 (v38) on chromosome 10, or base pair 1,280,076 in the GenBank genomic region NC_000076 encoding Pcdh15 within the donor splice site of intron 15 (ENSMUST00000195531.5). Linkage was found with a recessive model of inheritance, wherein six variant homozygotes departed phenotypically from four homozygous reference mice and 11 heterozygous mice with a P value of 1.08 x 10-4 (Figure 2). Although significant linkages was found with a recessive model of inheritance, a substantial semidominant effect was also observed (P = 1.73 x 10-4). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 80-nucleotide exon 15 (out of 35 total exons), resulting in an in-frame deletion of amino acids 640-666 of the protein.
<--exon 14 <--exon 15 intron 15--> exon 16--> <--exon 35
1256638 ……TTAAATCTACAG ……CTTTCAGAAAC gtaagttacaagggaatgat…… CACAGGGATTCTC…… ……ACAAAACTCTGA 1546720
636 ……-L--N--L--Q- ……-L--S--E--T --T--G--I--L-…… ……-T--K--L--*- 1714
correct deleted correct
|
DNA numbering corresponds to NC_000076. The donor splice site of intron 15, which is destroyed by the tortilla mutation, is indicated in blue lettering and the mutated nucleotide is indicated in red.
|
Illustration of Mutations in
Gene & Protein |
|
---|
Protein Prediction |
The mouse Pcdh15 gene encodes a protein that belongs to the protocadherin protein family (Figure 3). Protocadherins are atypical members of the large cadherin (calcium-dependent cell-cell adhesion proteins (1)) superfamily of transmembrane proteins that are defined by the presence of a variable number of extracellular cadherin domains known as EC repeats (2;3). The Pcdh15 gene encodes multiple isoforms of the PCDH15 protein; exon 1 is non-coding (4;5). The amino acids of each isoform are unique from each other, but each isoform contains a signal sequence, a unique extracellular region, and a cytoplasmic domain (4;6). The A isoform has 11 cadherin repeats, 1 transmembrane domain and a 542 amino acid cytoplasmic domain (CD1) that contains 2 proline-rich regions and the C-terminal motif STSL, which is a type 1 PDZ (for postsynaptic density 95/Discs large/zona occludens-1)-binding consensus sequence (4;5;7;8). The tortilla mutation may result in skipping of exon 15, deleting amino acids 640-666 from the EC repeat region. All of the isoforms of PCDH15 (CD-1, CD-2, and CD-3 classes) are predicted to be affected by the tortilla mutation (Figure 3). Please see the record squirm for information about Pcdh15.
|
Putative Mechanism | Hearing and balance both depend on the function of hair cells of the inner ear. The hair cells of the inner ear are mechanosensors that perceive sound, head movement, and gravity (9). The hair bundle present in hair cells is composed of numerous stereocilia that develop from microvilli and have a stiff core of parallel actin filaments anchored in the cuticular plate, a meshwork of horizontal actin filaments beneath the apical cell membrane. The stereocilia are connected to each other by numerous filaments, including tip links, horizontal top connectors, shaft connectors, transient lateral links and ankle links. The tip link is composed of Pcdh15 and Cdh23 and is two intertwined strands; Pcdh15 localizes to the lower end of the tip link while Cdh23 is localized to the upper end (10;11). In the retina, the USH proteins colocalize in the synaptic layer of the OPL (12-14), as well as in the ciliary region between the outer and inner segments, particularly in the connecting cilium and the calycal processes (13;14). PCDH15 colocalizes with harmonin, myosin VIIa, and CDH23 at the synaptic terminals of photoreceptor cells in the retina. Human mutations that are predicted to truncate PCDH15 in the extracellular domain typically cause Usher syndrome (USH; OMIM: #602083) (7;8), 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 (13;14). The tortilla 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 (5;10). 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 (5;15). The mutation results in a frameshift and a premature stop codon; the truncated protein lacks the cytoplasmic domain (5). 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 (15-18). 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
Tortilla_pcr_F: GGTACATGCCAGAAAATGCC
Tortilla_pcr_R: GTCTCCAGGGAAAGGTTTTGAG
Sequencing Primer
Tortilla_seq_F: CAATCTCTTGACATTAGGCCATAC
Tortilla_seq_R: GAGTTTAGAATTACCCCCAGTGC
|
Genotyping | PCR program 1) 94°C 2:00 2) 94°C 0:30 3) 55°C 0:30 4) 72°C 1:00 5) repeat steps (2-4) 40x 6) 72°C 10:00 7) 4°C hold
The following sequence of 414 nucleotides is amplified (chromosome 10, + strand):
1 ggtacatgcc agaaaatgcc agatacaata taaaatattt tattcaatct cttgacatta 61 ggccatactt tattctttaa cactaatagt ttgaacattc tacaactagt gtataattga 121 attatgtttt cttctctgaa ggcaactgat cgagagggag atccaatcac atatgccatc 181 gagaatggag accctcagag agtttttaat ctttcagaaa cgtaagttac aagggaatga 241 tttatacttg atcacacccc tccctcctcc ccccaccgcc cctgttaatg tcaaacaaca 301 tgctgttagc aagaggatag actttcagct gtttgtagtt ttattttaca ttttttctat 361 gaatgttaat gagcactggg ggtaattcta aactcaaaac ctttccctgg agac
Primer binding sites are underlined and the sequencing primers are highlighted; the mutated nucleotide is shown in red. |
References | 1. Huertas-Vazquez, A., Plaisier, C. L., Geng, R., Haas, B. E., Lee, J., Greevenbroek, M. M., van der Kallen, C., de Bruin, T. W., Taskinen, M. R., Alagramam, K. N., and Pajukanta, P. (2010) A Nonsynonymous SNP within PCDH15 is Associated with Lipid Traits in Familial Combined Hyperlipidemia. Hum Genet. 127, 83-89.
4. Ahmed, Z. M., Goodyear, R., Riazuddin, S., Lagziel, A., Legan, P. K., Behra, M., Burgess, S. M., Lilley, K. S., Wilcox, E. R., Riazuddin, S., Griffith, A. J., Frolenkov, G. I., Belyantseva, I. A., Richardson, G. P., and Friedman, T. B. (2006) The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, is Protocadherin-15. J Neurosci. 26, 7022-7034.
5. Alagramam, K. N., Murcia, C. L., Kwon, H. Y., Pawlowski, K. S., Wright, C. G., and Woychik, R. P. (2001) The Mouse Ames Waltzer Hearing-Loss Mutant is Caused by Mutation of Pcdh15, a Novel Protocadherin Gene. Nat Genet. 27, 99-102.
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Science Writers | Anne Murray |
Illustrators | Katherine Timer |
Authors | Lauren Prince, Jamie Russell, and Bruce Beutler |