Incidental Mutation 'R1795:Pcdh15'
ID |
202144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh15
|
Ensembl Gene |
ENSMUSG00000052613 |
Gene Name |
protocadherin 15 |
Synonyms |
Gm9815, nmf19, roda, Ush1f |
MMRRC Submission |
039825-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1795 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
72935174-74485569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74460087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1308
(Y1308C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064562]
[ENSMUST00000092420]
[ENSMUST00000105424]
[ENSMUST00000105426]
[ENSMUST00000105429]
[ENSMUST00000124046]
[ENSMUST00000147189]
[ENSMUST00000129404]
[ENSMUST00000131321]
[ENSMUST00000149977]
[ENSMUST00000126920]
[ENSMUST00000131724]
[ENSMUST00000146682]
[ENSMUST00000125517]
[ENSMUST00000136096]
[ENSMUST00000144302]
[ENSMUST00000125055]
[ENSMUST00000194315]
[ENSMUST00000193739]
[ENSMUST00000195531]
[ENSMUST00000191709]
[ENSMUST00000193361]
[ENSMUST00000177107]
[ENSMUST00000193174]
[ENSMUST00000191854]
[ENSMUST00000151116]
[ENSMUST00000152819]
[ENSMUST00000155701]
[ENSMUST00000152655]
|
AlphaFold |
Q99PJ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064562
AA Change: Y1274C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000068561 Gene: ENSMUSG00000052613 AA Change: Y1274C
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 damaging
Transcript: ENSMUST00000092420
AA Change: Y1345C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090076 Gene: ENSMUSG00000052613 AA Change: Y1345C
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 damaging
Transcript: ENSMUST00000105424
AA Change: Y1345C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101064 Gene: ENSMUSG00000052613 AA Change: Y1345C
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 damaging
Transcript: ENSMUST00000105426
AA Change: Y1345C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101066 Gene: ENSMUSG00000052613 AA Change: Y1345C
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 damaging
Transcript: ENSMUST00000105429
AA Change: Y1274C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101069 Gene: ENSMUSG00000052613 AA Change: Y1274C
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 damaging
Transcript: ENSMUST00000124046
AA Change: Y956C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000121130 Gene: ENSMUSG00000052613 AA Change: Y956C
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 damaging
Transcript: ENSMUST00000147189
AA Change: Y1308C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122940 Gene: ENSMUSG00000052613 AA Change: Y1308C
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 damaging
Transcript: ENSMUST00000129404
AA Change: Y1323C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117731 Gene: ENSMUSG00000052613 AA Change: Y1323C
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 damaging
Transcript: ENSMUST00000131321
AA Change: Y1345C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122911 Gene: ENSMUSG00000052613 AA Change: Y1345C
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 damaging
Transcript: ENSMUST00000149977
AA Change: Y1345C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118833 Gene: ENSMUSG00000052613 AA Change: Y1345C
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 damaging
Transcript: ENSMUST00000126920
AA Change: Y1323C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121939 Gene: ENSMUSG00000052613 AA Change: Y1323C
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 damaging
Transcript: ENSMUST00000131724
AA Change: Y1345C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122466 Gene: ENSMUSG00000052613 AA Change: Y1345C
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 damaging
Transcript: ENSMUST00000146682
AA Change: Y98C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134863 Gene: ENSMUSG00000052613 AA Change: Y98C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128843
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125517
|
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
Transcript: ENSMUST00000136096
|
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
Transcript: ENSMUST00000144302
|
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
Transcript: ENSMUST00000125055
|
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 damaging
Transcript: ENSMUST00000194315
AA Change: Y750C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141594 Gene: ENSMUSG00000052613 AA Change: Y750C
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 damaging
Transcript: ENSMUST00000193739
AA Change: Y1350C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142173 Gene: ENSMUSG00000052613 AA Change: Y1350C
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 damaging
Transcript: ENSMUST00000195531
AA Change: Y1345C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141920 Gene: ENSMUSG00000052613 AA Change: Y1345C
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 damaging
Transcript: ENSMUST00000191709
AA Change: Y1350C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142313 Gene: ENSMUSG00000052613 AA Change: Y1350C
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 damaging
Transcript: ENSMUST00000193361
AA Change: Y1350C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141792 Gene: ENSMUSG00000052613 AA Change: Y1350C
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 damaging
Transcript: ENSMUST00000177107
AA Change: Y1350C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135501 Gene: ENSMUSG00000052613 AA Change: Y1350C
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 damaging
Transcript: ENSMUST00000193174
AA Change: Y1352C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142238 Gene: ENSMUSG00000052613 AA Change: Y1352C
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 damaging
Transcript: ENSMUST00000191854
AA Change: Y1345C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141973 Gene: ENSMUSG00000052613 AA Change: Y1345C
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 damaging
Transcript: ENSMUST00000151116
AA Change: Y1357C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119662 Gene: ENSMUSG00000052613 AA Change: Y1357C
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 benign
Transcript: ENSMUST00000152819
|
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
Transcript: ENSMUST00000155701
|
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
Transcript: ENSMUST00000152655
|
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 |
|
Meta Mutation Damage Score |
0.2286 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
Validation Efficiency |
|
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]
|
Allele List at MGI |
All alleles(11) : Gene trapped(2) Transgenic(1) Spontaneous(6) Chemically induced(2)
|
Other mutations in this stock |
Total: 100 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,941,792 (GRCm39) |
I1159T |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,283,001 (GRCm39) |
V1159A |
possibly damaging |
Het |
Abcg5 |
A |
G |
17: 84,981,007 (GRCm39) |
I194T |
probably damaging |
Het |
Abtb2 |
A |
G |
2: 103,397,369 (GRCm39) |
T100A |
probably benign |
Het |
Adam4 |
C |
T |
12: 81,468,068 (GRCm39) |
M184I |
probably benign |
Het |
Afap1l2 |
T |
C |
19: 56,916,841 (GRCm39) |
D155G |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,979,802 (GRCm39) |
V362A |
possibly damaging |
Het |
Ak7 |
C |
T |
12: 105,692,482 (GRCm39) |
R179* |
probably null |
Het |
Akap8 |
C |
A |
17: 32,534,451 (GRCm39) |
G332C |
probably damaging |
Het |
Akr1e1 |
T |
A |
13: 4,645,071 (GRCm39) |
Q204L |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,293,222 (GRCm39) |
E737G |
possibly damaging |
Het |
Atrn |
A |
G |
2: 130,814,208 (GRCm39) |
D718G |
probably benign |
Het |
Bco2 |
A |
G |
9: 50,452,469 (GRCm39) |
S200P |
possibly damaging |
Het |
C030005K15Rik |
A |
T |
10: 97,561,648 (GRCm39) |
S28T |
unknown |
Het |
Cdc14a |
T |
A |
3: 116,092,122 (GRCm39) |
Q356L |
possibly damaging |
Het |
Cdk5rap3 |
A |
G |
11: 96,799,654 (GRCm39) |
L387P |
probably damaging |
Het |
Celsr1 |
A |
T |
15: 85,914,524 (GRCm39) |
S1150T |
probably damaging |
Het |
Cntfr |
A |
G |
4: 41,670,841 (GRCm39) |
|
probably null |
Het |
Cramp1 |
T |
C |
17: 25,183,884 (GRCm39) |
N1244D |
probably damaging |
Het |
Csmd3 |
G |
T |
15: 47,721,316 (GRCm39) |
D1542E |
possibly damaging |
Het |
Cyp4f17 |
A |
T |
17: 32,736,943 (GRCm39) |
I92F |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,937,051 (GRCm39) |
|
probably null |
Het |
Dlg1 |
T |
A |
16: 31,561,965 (GRCm39) |
H120Q |
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,843,207 (GRCm39) |
M348L |
probably benign |
Het |
Dnmt3b |
G |
A |
2: 153,525,559 (GRCm39) |
E741K |
possibly damaging |
Het |
Dock3 |
T |
G |
9: 106,902,534 (GRCm39) |
H292P |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,238,985 (GRCm39) |
N24K |
probably benign |
Het |
Esco2 |
T |
C |
14: 66,064,726 (GRCm39) |
Q338R |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,812,837 (GRCm39) |
|
probably null |
Het |
Exoc7 |
A |
T |
11: 116,183,347 (GRCm39) |
I498N |
probably damaging |
Het |
Fap |
G |
A |
2: 62,378,933 (GRCm39) |
S123L |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,262,051 (GRCm39) |
E106G |
probably benign |
Het |
Fscb |
T |
A |
12: 64,521,175 (GRCm39) |
D97V |
probably damaging |
Het |
Gabrg1 |
T |
C |
5: 70,939,596 (GRCm39) |
T174A |
possibly damaging |
Het |
Gan |
C |
T |
8: 117,923,199 (GRCm39) |
A461V |
possibly damaging |
Het |
Gbp2 |
T |
A |
3: 142,336,284 (GRCm39) |
D211E |
possibly damaging |
Het |
Gm10271 |
A |
T |
10: 116,792,746 (GRCm39) |
Y47N |
unknown |
Het |
Gm17333 |
G |
T |
16: 77,649,711 (GRCm39) |
|
noncoding transcript |
Het |
Gm1758 |
T |
A |
16: 14,320,142 (GRCm39) |
|
noncoding transcript |
Het |
Golga3 |
A |
G |
5: 110,355,493 (GRCm39) |
K989R |
possibly damaging |
Het |
Gucy2g |
C |
A |
19: 55,187,973 (GRCm39) |
V1041F |
probably damaging |
Het |
Guk1 |
A |
T |
11: 59,077,639 (GRCm39) |
F25I |
probably benign |
Het |
H2al1o |
C |
T |
X: 9,438,329 (GRCm39) |
E87K |
possibly damaging |
Het |
Hemgn |
C |
A |
4: 46,395,958 (GRCm39) |
C426F |
probably damaging |
Het |
Hps3 |
A |
G |
3: 20,066,859 (GRCm39) |
|
probably null |
Het |
Il2rb |
A |
T |
15: 78,368,187 (GRCm39) |
D287E |
probably damaging |
Het |
Ino80 |
A |
T |
2: 119,237,340 (GRCm39) |
V1123D |
probably damaging |
Het |
Kdm2b |
A |
G |
5: 123,122,523 (GRCm39) |
|
probably null |
Het |
Kif21a |
A |
T |
15: 90,856,930 (GRCm39) |
|
probably null |
Het |
Klhl33 |
A |
T |
14: 51,129,583 (GRCm39) |
N347K |
probably damaging |
Het |
Krt1c |
A |
G |
15: 101,724,861 (GRCm39) |
F250L |
possibly damaging |
Het |
Krt82 |
T |
A |
15: 101,451,819 (GRCm39) |
N332I |
possibly damaging |
Het |
Lgi1 |
A |
G |
19: 38,294,631 (GRCm39) |
I444V |
probably benign |
Het |
Lmod1 |
G |
A |
1: 135,252,862 (GRCm39) |
V39M |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Mex3d |
T |
C |
10: 80,217,376 (GRCm39) |
T149A |
probably benign |
Het |
Mideas |
A |
G |
12: 84,205,748 (GRCm39) |
|
probably null |
Het |
Mlxipl |
A |
C |
5: 135,136,024 (GRCm39) |
D83A |
probably damaging |
Het |
Mroh8 |
T |
A |
2: 157,111,471 (GRCm39) |
E161V |
probably benign |
Het |
Mroh9 |
G |
A |
1: 162,884,347 (GRCm39) |
T397I |
probably damaging |
Het |
Mtss1 |
T |
C |
15: 58,930,249 (GRCm39) |
D32G |
possibly damaging |
Het |
Mus81 |
T |
C |
19: 5,533,504 (GRCm39) |
D495G |
probably benign |
Het |
Neurod1 |
A |
C |
2: 79,284,673 (GRCm39) |
S237A |
probably benign |
Het |
Npas1 |
G |
A |
7: 16,208,725 (GRCm39) |
R51C |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
P2ry14 |
T |
C |
3: 59,023,274 (GRCm39) |
N62S |
probably damaging |
Het |
Pcdhb14 |
A |
T |
18: 37,582,588 (GRCm39) |
M565L |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,390,283 (GRCm39) |
E502G |
probably damaging |
Het |
Pde8b |
A |
G |
13: 95,178,527 (GRCm39) |
V566A |
probably benign |
Het |
Phf11b |
G |
T |
14: 59,565,554 (GRCm39) |
Q108K |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,291,716 (GRCm39) |
Y1312H |
probably damaging |
Het |
Plcb3 |
T |
C |
19: 6,933,381 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
G |
A |
1: 194,488,611 (GRCm39) |
G1629D |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,929,813 (GRCm39) |
V223A |
probably benign |
Het |
Prkca |
A |
T |
11: 107,903,518 (GRCm39) |
Y285N |
possibly damaging |
Het |
Prl2a1 |
A |
T |
13: 27,992,554 (GRCm39) |
N226I |
probably damaging |
Het |
Pus7 |
A |
C |
5: 23,946,914 (GRCm39) |
M636R |
probably damaging |
Het |
Samd9l |
G |
A |
6: 3,375,264 (GRCm39) |
Q666* |
probably null |
Het |
Sema3d |
A |
G |
5: 12,634,854 (GRCm39) |
D640G |
probably benign |
Het |
Slc6a15 |
A |
G |
10: 103,236,121 (GRCm39) |
I279V |
probably benign |
Het |
Slk |
T |
C |
19: 47,608,973 (GRCm39) |
V642A |
possibly damaging |
Het |
Spata31e2 |
C |
A |
1: 26,722,070 (GRCm39) |
G1037* |
probably null |
Het |
Spta1 |
T |
A |
1: 174,073,296 (GRCm39) |
M2305K |
probably damaging |
Het |
Srrt |
T |
C |
5: 137,301,274 (GRCm39) |
|
probably benign |
Het |
Stfa2l1 |
A |
T |
16: 35,977,228 (GRCm39) |
I8L |
probably benign |
Het |
Tap1 |
T |
C |
17: 34,413,899 (GRCm39) |
L638P |
probably benign |
Het |
Tbccd1 |
A |
T |
16: 22,640,995 (GRCm39) |
L461M |
probably benign |
Het |
Tecta |
T |
C |
9: 42,289,345 (GRCm39) |
T407A |
probably benign |
Het |
Tmbim7 |
T |
C |
5: 3,707,493 (GRCm39) |
|
probably null |
Het |
Tnrc18 |
C |
A |
5: 142,800,869 (GRCm39) |
V30L |
probably benign |
Het |
Tomm7 |
A |
G |
5: 24,049,025 (GRCm39) |
F16S |
probably damaging |
Het |
Ugt2a2 |
A |
G |
5: 87,622,315 (GRCm39) |
S428P |
probably benign |
Het |
Vmn1r189 |
T |
C |
13: 22,286,324 (GRCm39) |
E171G |
probably benign |
Het |
Vmn1r61 |
T |
C |
7: 5,614,324 (GRCm39) |
|
probably benign |
Het |
Vmn2r120 |
A |
T |
17: 57,832,038 (GRCm39) |
S250R |
probably benign |
Het |
Vmn2r8 |
T |
C |
5: 108,950,972 (GRCm39) |
R158G |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,286,702 (GRCm39) |
Y400F |
probably damaging |
Het |
Vps13c |
C |
A |
9: 67,801,267 (GRCm39) |
Y582* |
probably null |
Het |
Zfp518a |
T |
A |
19: 40,904,000 (GRCm39) |
F1310I |
probably benign |
Het |
Zswim1 |
A |
G |
2: 164,667,320 (GRCm39) |
I191V |
probably benign |
Het |
|
Other mutations in Pcdh15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Pcdh15
|
APN |
10 |
74,021,177 (GRCm39) |
nonsense |
probably null |
|
IGL00432:Pcdh15
|
APN |
10 |
74,126,914 (GRCm39) |
splice site |
probably benign |
|
IGL00533:Pcdh15
|
APN |
10 |
74,338,552 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00596:Pcdh15
|
APN |
10 |
74,466,576 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00930:Pcdh15
|
APN |
10 |
74,466,530 (GRCm39) |
missense |
probably benign |
0.08 |
IGL00970:Pcdh15
|
APN |
10 |
74,215,172 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01087:Pcdh15
|
APN |
10 |
74,178,464 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01763:Pcdh15
|
APN |
10 |
74,046,293 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01787:Pcdh15
|
APN |
10 |
74,286,115 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02070:Pcdh15
|
APN |
10 |
74,466,700 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02234:Pcdh15
|
APN |
10 |
74,467,694 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02268:Pcdh15
|
APN |
10 |
74,178,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02280:Pcdh15
|
APN |
10 |
74,058,295 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02363:Pcdh15
|
APN |
10 |
74,152,918 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02420:Pcdh15
|
APN |
10 |
74,138,938 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02749:Pcdh15
|
APN |
10 |
74,466,900 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02939:Pcdh15
|
APN |
10 |
74,340,648 (GRCm39) |
splice site |
probably benign |
|
IGL02970:Pcdh15
|
APN |
10 |
74,126,794 (GRCm39) |
splice site |
probably benign |
|
IGL03010:Pcdh15
|
APN |
10 |
74,221,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03061:Pcdh15
|
APN |
10 |
74,152,843 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03095:Pcdh15
|
APN |
10 |
74,191,706 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Pcdh15
|
APN |
10 |
74,466,527 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03187:Pcdh15
|
APN |
10 |
74,191,706 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03279:Pcdh15
|
APN |
10 |
74,152,904 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03392:Pcdh15
|
APN |
10 |
74,460,104 (GRCm39) |
missense |
probably damaging |
1.00 |
loop
|
UTSW |
10 |
74,021,210 (GRCm39) |
missense |
probably damaging |
1.00 |
mcduck
|
UTSW |
10 |
74,462,676 (GRCm39) |
critical splice donor site |
probably null |
|
spaz
|
UTSW |
10 |
74,046,257 (GRCm39) |
missense |
probably damaging |
1.00 |
sphere
|
UTSW |
10 |
74,460,116 (GRCm39) |
missense |
probably damaging |
1.00 |
squirm
|
UTSW |
10 |
0 () |
large deletion |
|
|
Tortilla
|
UTSW |
10 |
74,215,249 (GRCm39) |
splice site |
probably null |
|
1mM(1):Pcdh15
|
UTSW |
10 |
74,461,969 (GRCm39) |
intron |
probably benign |
|
BB009:Pcdh15
|
UTSW |
10 |
74,481,359 (GRCm39) |
missense |
probably benign |
0.18 |
BB019:Pcdh15
|
UTSW |
10 |
74,481,359 (GRCm39) |
missense |
probably benign |
0.18 |
R0038:Pcdh15
|
UTSW |
10 |
74,479,272 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0103:Pcdh15
|
UTSW |
10 |
74,046,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Pcdh15
|
UTSW |
10 |
74,126,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R0111:Pcdh15
|
UTSW |
10 |
74,462,651 (GRCm39) |
nonsense |
probably null |
|
R0119:Pcdh15
|
UTSW |
10 |
74,006,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Pcdh15
|
UTSW |
10 |
74,006,440 (GRCm39) |
missense |
probably null |
1.00 |
R0445:Pcdh15
|
UTSW |
10 |
74,178,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R0464:Pcdh15
|
UTSW |
10 |
74,462,676 (GRCm39) |
critical splice donor site |
probably null |
|
R0503:Pcdh15
|
UTSW |
10 |
74,046,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R0507:Pcdh15
|
UTSW |
10 |
74,457,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Pcdh15
|
UTSW |
10 |
74,126,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R0742:Pcdh15
|
UTSW |
10 |
74,457,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R0790:Pcdh15
|
UTSW |
10 |
74,466,885 (GRCm39) |
missense |
probably benign |
0.01 |
R0829:Pcdh15
|
UTSW |
10 |
74,338,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R0839:Pcdh15
|
UTSW |
10 |
74,462,614 (GRCm39) |
missense |
probably null |
1.00 |
R0882:Pcdh15
|
UTSW |
10 |
74,178,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R0894:Pcdh15
|
UTSW |
10 |
74,460,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R0944:Pcdh15
|
UTSW |
10 |
74,046,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1081:Pcdh15
|
UTSW |
10 |
74,286,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Pcdh15
|
UTSW |
10 |
74,006,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Pcdh15
|
UTSW |
10 |
74,006,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R1484:Pcdh15
|
UTSW |
10 |
74,126,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R1521:Pcdh15
|
UTSW |
10 |
74,430,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R1694:Pcdh15
|
UTSW |
10 |
74,429,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R2021:Pcdh15
|
UTSW |
10 |
74,467,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2022:Pcdh15
|
UTSW |
10 |
74,467,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2023:Pcdh15
|
UTSW |
10 |
74,467,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2076:Pcdh15
|
UTSW |
10 |
74,178,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R2199:Pcdh15
|
UTSW |
10 |
74,006,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Pcdh15
|
UTSW |
10 |
74,467,331 (GRCm39) |
missense |
probably benign |
0.39 |
R2511:Pcdh15
|
UTSW |
10 |
74,481,828 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3418:Pcdh15
|
UTSW |
10 |
74,420,054 (GRCm39) |
missense |
probably benign |
0.12 |
R3419:Pcdh15
|
UTSW |
10 |
74,420,054 (GRCm39) |
missense |
probably benign |
0.12 |
R3433:Pcdh15
|
UTSW |
10 |
74,467,331 (GRCm39) |
missense |
probably benign |
0.39 |
R3619:Pcdh15
|
UTSW |
10 |
74,479,227 (GRCm39) |
missense |
probably benign |
0.19 |
R3723:Pcdh15
|
UTSW |
10 |
74,481,680 (GRCm39) |
missense |
probably benign |
0.05 |
R3724:Pcdh15
|
UTSW |
10 |
74,481,680 (GRCm39) |
missense |
probably benign |
0.05 |
R3778:Pcdh15
|
UTSW |
10 |
73,782,983 (GRCm39) |
splice site |
probably null |
|
R3851:Pcdh15
|
UTSW |
10 |
74,467,518 (GRCm39) |
missense |
probably damaging |
0.97 |
R4175:Pcdh15
|
UTSW |
10 |
74,467,829 (GRCm39) |
intron |
probably benign |
|
R4261:Pcdh15
|
UTSW |
10 |
74,481,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R4385:Pcdh15
|
UTSW |
10 |
74,386,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R4585:Pcdh15
|
UTSW |
10 |
74,460,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R4602:Pcdh15
|
UTSW |
10 |
74,430,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R4639:Pcdh15
|
UTSW |
10 |
74,479,439 (GRCm39) |
missense |
probably benign |
0.00 |
R4703:Pcdh15
|
UTSW |
10 |
74,285,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R4819:Pcdh15
|
UTSW |
10 |
74,160,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R4906:Pcdh15
|
UTSW |
10 |
74,340,625 (GRCm39) |
nonsense |
probably null |
|
R4961:Pcdh15
|
UTSW |
10 |
74,215,249 (GRCm39) |
splice site |
probably null |
|
R5018:Pcdh15
|
UTSW |
10 |
74,479,607 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5125:Pcdh15
|
UTSW |
10 |
74,419,912 (GRCm39) |
missense |
probably damaging |
0.98 |
R5225:Pcdh15
|
UTSW |
10 |
74,138,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R5259:Pcdh15
|
UTSW |
10 |
74,232,204 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5279:Pcdh15
|
UTSW |
10 |
74,430,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Pcdh15
|
UTSW |
10 |
74,021,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Pcdh15
|
UTSW |
10 |
74,340,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R5617:Pcdh15
|
UTSW |
10 |
74,471,504 (GRCm39) |
intron |
probably benign |
|
R5665:Pcdh15
|
UTSW |
10 |
74,462,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R5770:Pcdh15
|
UTSW |
10 |
74,021,177 (GRCm39) |
nonsense |
probably null |
|
R5805:Pcdh15
|
UTSW |
10 |
74,066,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R5914:Pcdh15
|
UTSW |
10 |
74,466,768 (GRCm39) |
missense |
probably benign |
0.42 |
R5988:Pcdh15
|
UTSW |
10 |
74,215,189 (GRCm39) |
missense |
probably benign |
0.05 |
R6133:Pcdh15
|
UTSW |
10 |
74,481,805 (GRCm39) |
splice site |
probably null |
|
R6189:Pcdh15
|
UTSW |
10 |
74,178,483 (GRCm39) |
missense |
probably null |
1.00 |
R6414:Pcdh15
|
UTSW |
10 |
74,021,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R6536:Pcdh15
|
UTSW |
10 |
74,467,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R6612:Pcdh15
|
UTSW |
10 |
74,021,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6711:Pcdh15
|
UTSW |
10 |
74,478,219 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6793:Pcdh15
|
UTSW |
10 |
74,466,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R6841:Pcdh15
|
UTSW |
10 |
74,286,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R6845:Pcdh15
|
UTSW |
10 |
74,466,465 (GRCm39) |
missense |
probably benign |
|
R6915:Pcdh15
|
UTSW |
10 |
74,479,641 (GRCm39) |
missense |
probably benign |
0.16 |
R6954:Pcdh15
|
UTSW |
10 |
74,481,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6970:Pcdh15
|
UTSW |
10 |
74,338,519 (GRCm39) |
missense |
probably damaging |
0.98 |
R7018:Pcdh15
|
UTSW |
10 |
74,302,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Pcdh15
|
UTSW |
10 |
74,466,446 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7079:Pcdh15
|
UTSW |
10 |
74,152,957 (GRCm39) |
missense |
probably benign |
0.21 |
R7172:Pcdh15
|
UTSW |
10 |
74,338,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Pcdh15
|
UTSW |
10 |
74,178,441 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7237:Pcdh15
|
UTSW |
10 |
74,420,023 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7266:Pcdh15
|
UTSW |
10 |
74,215,222 (GRCm39) |
nonsense |
probably null |
|
R7276:Pcdh15
|
UTSW |
10 |
74,160,224 (GRCm39) |
missense |
probably benign |
0.25 |
R7359:Pcdh15
|
UTSW |
10 |
74,420,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R7396:Pcdh15
|
UTSW |
10 |
74,466,522 (GRCm39) |
missense |
probably benign |
0.17 |
R7421:Pcdh15
|
UTSW |
10 |
74,289,897 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7424:Pcdh15
|
UTSW |
10 |
74,342,317 (GRCm39) |
missense |
probably benign |
0.09 |
R7463:Pcdh15
|
UTSW |
10 |
74,467,602 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7469:Pcdh15
|
UTSW |
10 |
74,481,812 (GRCm39) |
missense |
probably benign |
|
R7512:Pcdh15
|
UTSW |
10 |
74,477,214 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7767:Pcdh15
|
UTSW |
10 |
74,322,088 (GRCm39) |
missense |
probably benign |
0.07 |
R7830:Pcdh15
|
UTSW |
10 |
74,221,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R7890:Pcdh15
|
UTSW |
10 |
74,478,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7897:Pcdh15
|
UTSW |
10 |
74,289,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R7908:Pcdh15
|
UTSW |
10 |
74,479,414 (GRCm39) |
missense |
probably benign |
0.04 |
R7932:Pcdh15
|
UTSW |
10 |
74,481,359 (GRCm39) |
missense |
probably benign |
0.18 |
R7940:Pcdh15
|
UTSW |
10 |
74,430,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R8230:Pcdh15
|
UTSW |
10 |
74,191,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R8307:Pcdh15
|
UTSW |
10 |
74,342,307 (GRCm39) |
nonsense |
probably null |
|
R8382:Pcdh15
|
UTSW |
10 |
74,479,227 (GRCm39) |
missense |
probably benign |
0.19 |
R8397:Pcdh15
|
UTSW |
10 |
74,126,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R8498:Pcdh15
|
UTSW |
10 |
74,317,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R8692:Pcdh15
|
UTSW |
10 |
74,289,805 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8797:Pcdh15
|
UTSW |
10 |
74,419,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R9020:Pcdh15
|
UTSW |
10 |
74,481,443 (GRCm39) |
missense |
probably benign |
0.01 |
R9033:Pcdh15
|
UTSW |
10 |
74,302,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R9056:Pcdh15
|
UTSW |
10 |
74,221,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R9177:Pcdh15
|
UTSW |
10 |
74,479,455 (GRCm39) |
missense |
probably benign |
0.13 |
R9191:Pcdh15
|
UTSW |
10 |
74,161,981 (GRCm39) |
missense |
probably benign |
0.38 |
R9268:Pcdh15
|
UTSW |
10 |
74,479,455 (GRCm39) |
missense |
probably benign |
0.13 |
R9279:Pcdh15
|
UTSW |
10 |
74,461,756 (GRCm39) |
intron |
probably benign |
|
R9294:Pcdh15
|
UTSW |
10 |
74,479,560 (GRCm39) |
missense |
unknown |
|
R9387:Pcdh15
|
UTSW |
10 |
74,066,192 (GRCm39) |
missense |
probably damaging |
0.98 |
R9409:Pcdh15
|
UTSW |
10 |
74,160,190 (GRCm39) |
missense |
probably damaging |
0.98 |
R9410:Pcdh15
|
UTSW |
10 |
74,481,663 (GRCm39) |
frame shift |
probably null |
|
R9412:Pcdh15
|
UTSW |
10 |
74,481,663 (GRCm39) |
frame shift |
probably null |
|
R9432:Pcdh15
|
UTSW |
10 |
74,460,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R9444:Pcdh15
|
UTSW |
10 |
74,478,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9579:Pcdh15
|
UTSW |
10 |
74,457,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9643:Pcdh15
|
UTSW |
10 |
74,479,335 (GRCm39) |
missense |
probably benign |
0.18 |
R9784:Pcdh15
|
UTSW |
10 |
74,467,212 (GRCm39) |
missense |
probably benign |
0.00 |
RF020:Pcdh15
|
UTSW |
10 |
74,021,242 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pcdh15
|
UTSW |
10 |
74,466,533 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Pcdh15
|
UTSW |
10 |
74,340,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGCTTCCCAGGTCTCAAG -3'
(R):5'- TCACTGTCGGTAGCTTACTAAGAC -3'
Sequencing Primer
(F):5'- TACTAATCATCACACACAGTTTGC -3'
(R):5'- CTTACTAAGACGACCAAGATGGCTG -3'
|
Posted On |
2014-06-23 |