Phenotypic Mutation 'mcduck' (pdf version)
Allele | mcduck |
Mutation Type |
critical splice donor site
(2 bp from exon)
|
Chromosome | 10 |
Coordinate | 74,462,676 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
|
Mapped | Yes |
Amino Acid Change |
|
Institutional Source | Beutler 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
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 null
|
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 null
|
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: 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: 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 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 null
|
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 benign
|
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 |
0.9487 |
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(12) : Gene trapped(2) Transgenic(1) Spontaneous(6) Chemically induced(3)
|
Lab Alleles |
|
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 |
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 |
|
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Protein Prediction |
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.
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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.
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Primers |
PCR Primer
mcduck_pcr_F: TACTCTACTCAAGACGCCAGGCTG
mcduck_pcr_R: ACTGTTCGAAGCACGCTGTATCAC
Sequencing Primer
mcduck_seq_F: CACGAAGACCGCAAGAATTC
mcduck_seq_R: AGCTGCGTCTAACATGGATATG
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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.
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References |
2. 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.
3. Raphael, Y., Kobayashi, K. N., Dootz, G. A., Beyer, L. A., Dolan, D. F., and Burmeister, M. (2001) Severe Vestibular and Auditory Impairment in Three Alleles of Ames Waltzer (Av) Mice. Hear Res. 151, 237-249.
4. Jones, S. M., Johnson, K. R., Yu, H., Erway, L. C., Alagramam, K. N., Pollak, N., and Jones, T. A. (2005) A Quantitative Survey of Gravity Receptor Function in Mutant Mouse Strains. J Assoc Res Otolaryngol. 6, 297-310.
5. Lefevre, G., Michel, V., Weil, D., Lepelletier, L., Bizard, E., Wolfrum, U., Hardelin, J. P., and Petit, C. (2008) A Core Cochlear Phenotype in USH1 Mouse Mutants Implicates Fibrous Links of the Hair Bundle in its Cohesion, Orientation and Differential Growth. Development. 135, 1427-1437.
6. Cook, S., and Lane, P. (1993) Re-Mutation to Ames Waltzer. Mouse Genome. 91, 554.
7. 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.
8. Kremer, H., van Wijk, E., Marker, T., Wolfrum, U., and Roepman, R. (2006) Usher Syndrome: Molecular Links of Pathogenesis, Proteins and Pathways. Hum Mol Genet. 15 Spec No 2, R262-70.
9. Reiners, J., Nagel-Wolfrum, K., Jurgens, K., Marker, T., and Wolfrum, U. (2006) Molecular Basis of Human Usher Syndrome: Deciphering the Meshes of the Usher Protein Network Provides Insights into the Pathomechanisms of the Usher Disease. Exp Eye Res. 83, 97-119.
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Science Writers | Anne Murray |
Illustrators | Peter Jurek |
Authors | Chad Daniel
Tiana Purrington |