Incidental Mutation 'IGL02749:Pcdh15'
ID |
306194 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pcdh15
|
Ensembl Gene |
ENSMUSG00000052613 |
Gene Name |
protocadherin 15 |
Synonyms |
Gm9815, nmf19, roda, Ush1f |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02749
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
72935174-74485569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74466900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1573
(D1573G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064562]
[ENSMUST00000092420]
[ENSMUST00000105424]
[ENSMUST00000105426]
[ENSMUST00000105429]
[ENSMUST00000124046]
[ENSMUST00000125055]
[ENSMUST00000147189]
[ENSMUST00000129404]
[ENSMUST00000126920]
[ENSMUST00000131321]
[ENSMUST00000149977]
[ENSMUST00000152655]
[ENSMUST00000144302]
[ENSMUST00000136096]
[ENSMUST00000151116]
[ENSMUST00000146682]
[ENSMUST00000152819]
[ENSMUST00000125517]
[ENSMUST00000131724]
[ENSMUST00000194315]
[ENSMUST00000193361]
[ENSMUST00000155701]
[ENSMUST00000191854]
[ENSMUST00000193739]
[ENSMUST00000177107]
[ENSMUST00000193174]
[ENSMUST00000195531]
[ENSMUST00000191709]
|
AlphaFold |
Q99PJ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064562
AA Change: D1571G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000068561 Gene: ENSMUSG00000052613 AA Change: D1571G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
CA
|
64 |
145 |
1.22e-1 |
SMART |
CA
|
174 |
263 |
5.48e-8 |
SMART |
CA
|
304 |
393 |
1.94e-8 |
SMART |
CA
|
426 |
507 |
2.29e-10 |
SMART |
CA
|
531 |
644 |
2.34e-16 |
SMART |
CA
|
668 |
746 |
1.93e-26 |
SMART |
CA
|
770 |
853 |
5.69e-15 |
SMART |
CA
|
877 |
963 |
6.85e-9 |
SMART |
CA
|
984 |
1071 |
3.09e-16 |
SMART |
CA
|
1095 |
1179 |
4.49e-4 |
SMART |
transmembrane domain
|
1304 |
1326 |
N/A |
INTRINSIC |
low complexity region
|
1347 |
1374 |
N/A |
INTRINSIC |
low complexity region
|
1583 |
1600 |
N/A |
INTRINSIC |
low complexity region
|
1662 |
1682 |
N/A |
INTRINSIC |
low complexity region
|
1689 |
1702 |
N/A |
INTRINSIC |
low complexity region
|
1706 |
1756 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092420
AA Change: D1639G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000090076 Gene: ENSMUSG00000052613 AA Change: D1639G
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 benign
Transcript: ENSMUST00000105424
AA Change: D1644G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101064 Gene: ENSMUSG00000052613 AA Change: D1644G
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 benign
Transcript: ENSMUST00000105426
AA Change: D1642G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101066 Gene: ENSMUSG00000052613 AA Change: D1642G
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 benign
Transcript: ENSMUST00000105429
AA Change: D1573G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000101069 Gene: ENSMUSG00000052613 AA Change: D1573G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
CA
|
64 |
145 |
1.22e-1 |
SMART |
CA
|
174 |
263 |
5.48e-8 |
SMART |
CA
|
304 |
393 |
1.94e-8 |
SMART |
CA
|
426 |
507 |
2.29e-10 |
SMART |
CA
|
531 |
644 |
2.34e-16 |
SMART |
CA
|
668 |
746 |
1.93e-26 |
SMART |
CA
|
770 |
853 |
5.69e-15 |
SMART |
CA
|
877 |
963 |
6.85e-9 |
SMART |
CA
|
984 |
1071 |
3.09e-16 |
SMART |
CA
|
1095 |
1179 |
4.49e-4 |
SMART |
transmembrane domain
|
1304 |
1326 |
N/A |
INTRINSIC |
low complexity region
|
1347 |
1374 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1602 |
N/A |
INTRINSIC |
low complexity region
|
1664 |
1684 |
N/A |
INTRINSIC |
low complexity region
|
1691 |
1704 |
N/A |
INTRINSIC |
low complexity region
|
1708 |
1758 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124046
|
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 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 |
noncoding transcript
Transcript: ENSMUST00000127928
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147189
AA Change: D1602G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122940 Gene: ENSMUSG00000052613 AA Change: D1602G
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 benign
Transcript: ENSMUST00000129404
AA Change: D1619G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000117731 Gene: ENSMUSG00000052613 AA Change: D1619G
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 benign
Transcript: ENSMUST00000126920
AA Change: D1622G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121939 Gene: ENSMUSG00000052613 AA Change: D1622G
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 benign
Transcript: ENSMUST00000131321
AA Change: D1642G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122911 Gene: ENSMUSG00000052613 AA Change: D1642G
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 benign
Transcript: ENSMUST00000149977
|
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 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 |
|
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: 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: ENSMUST00000151116
|
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 benign
Transcript: ENSMUST00000146682
|
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
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: 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: ENSMUST00000131724
|
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 benign
Transcript: ENSMUST00000194315
AA Change: D1039G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141594 Gene: ENSMUSG00000052613 AA Change: D1039G
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 benign
Transcript: ENSMUST00000193361
AA Change: D1649G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141792 Gene: ENSMUSG00000052613 AA Change: D1649G
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 |
noncoding transcript
Transcript: ENSMUST00000192370
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194729
|
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: ENSMUST00000191854
|
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 benign
Transcript: ENSMUST00000193739
|
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 benign
Transcript: ENSMUST00000177107
|
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 benign
Transcript: ENSMUST00000193174
|
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 benign
Transcript: ENSMUST00000195531
|
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 benign
Transcript: ENSMUST00000191709
|
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 |
|
Coding Region Coverage |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230104M06Rik |
T |
C |
12: 112,963,795 (GRCm39) |
D61G |
probably benign |
Het |
Albfm1 |
T |
C |
5: 90,719,624 (GRCm39) |
V240A |
possibly damaging |
Het |
Ascc2 |
G |
A |
11: 4,590,481 (GRCm39) |
|
probably null |
Het |
Atrn |
C |
T |
2: 130,812,064 (GRCm39) |
Q670* |
probably null |
Het |
Atrn |
G |
T |
2: 130,789,654 (GRCm39) |
|
probably benign |
Het |
Calr |
A |
C |
8: 85,571,117 (GRCm39) |
W236G |
probably damaging |
Het |
Camk2g |
T |
A |
14: 20,816,084 (GRCm39) |
|
probably null |
Het |
Cd101 |
G |
T |
3: 100,927,715 (GRCm39) |
T122K |
probably damaging |
Het |
Cert1 |
T |
A |
13: 96,765,643 (GRCm39) |
N469K |
possibly damaging |
Het |
Cryl1 |
T |
C |
14: 57,541,181 (GRCm39) |
T168A |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,156,261 (GRCm39) |
I684T |
probably damaging |
Het |
Ednrb |
A |
T |
14: 104,060,495 (GRCm39) |
M266K |
possibly damaging |
Het |
Eif4h |
T |
C |
5: 134,668,146 (GRCm39) |
D3G |
probably damaging |
Het |
Eny2 |
C |
T |
15: 44,293,031 (GRCm39) |
R28C |
possibly damaging |
Het |
Epsti1 |
A |
G |
14: 78,177,363 (GRCm39) |
E181G |
probably damaging |
Het |
Ezh2 |
A |
G |
6: 47,510,698 (GRCm39) |
F598S |
probably damaging |
Het |
Fat3 |
G |
T |
9: 15,918,007 (GRCm39) |
T1472K |
possibly damaging |
Het |
Gabra4 |
T |
A |
5: 71,795,490 (GRCm39) |
I262F |
probably benign |
Het |
Gpat4 |
A |
T |
8: 23,670,886 (GRCm39) |
Y109N |
probably damaging |
Het |
Gpsm1 |
C |
T |
2: 26,229,687 (GRCm39) |
T36I |
probably damaging |
Het |
Hikeshi |
C |
T |
7: 89,585,097 (GRCm39) |
V36I |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,473,605 (GRCm39) |
M238V |
probably benign |
Het |
Hnrnpll |
A |
T |
17: 80,369,420 (GRCm39) |
M1K |
probably null |
Het |
Irx2 |
G |
A |
13: 72,779,429 (GRCm39) |
D238N |
probably damaging |
Het |
Kcnip4 |
T |
A |
5: 48,567,127 (GRCm39) |
|
probably benign |
Het |
Lair1 |
G |
A |
7: 4,031,900 (GRCm39) |
T69I |
possibly damaging |
Het |
Lamc1 |
A |
G |
1: 153,125,599 (GRCm39) |
I558T |
possibly damaging |
Het |
Map4k5 |
C |
T |
12: 69,862,580 (GRCm39) |
E639K |
probably benign |
Het |
Mc4r |
A |
G |
18: 66,992,733 (GRCm39) |
S127P |
probably damaging |
Het |
Mmp23 |
A |
G |
4: 155,735,989 (GRCm39) |
M221T |
possibly damaging |
Het |
Mre11a |
T |
C |
9: 14,737,887 (GRCm39) |
S587P |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
Nek9 |
C |
A |
12: 85,352,281 (GRCm39) |
A861S |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,163,560 (GRCm39) |
Y576N |
probably damaging |
Het |
Or5w10 |
C |
T |
2: 87,375,001 (GRCm39) |
V296M |
probably damaging |
Het |
Pcca |
A |
T |
14: 122,771,800 (GRCm39) |
T8S |
probably benign |
Het |
Pdpr |
T |
A |
8: 111,844,722 (GRCm39) |
V373E |
probably benign |
Het |
Pdzph1 |
A |
T |
17: 59,239,478 (GRCm39) |
L950Q |
possibly damaging |
Het |
Pira13 |
A |
G |
7: 3,825,624 (GRCm39) |
I415T |
probably damaging |
Het |
Prss35 |
A |
C |
9: 86,638,297 (GRCm39) |
K356Q |
probably damaging |
Het |
Psg22 |
A |
T |
7: 18,456,944 (GRCm39) |
T237S |
possibly damaging |
Het |
Rdh13 |
A |
G |
7: 4,430,703 (GRCm39) |
Y252H |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,613,112 (GRCm39) |
|
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,493 (GRCm39) |
V207I |
probably benign |
Het |
Sparcl1 |
T |
G |
5: 104,240,746 (GRCm39) |
E226A |
possibly damaging |
Het |
Srms |
C |
A |
2: 180,851,302 (GRCm39) |
A155S |
possibly damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,917 (GRCm39) |
I44N |
probably damaging |
Het |
Tmem236 |
C |
T |
2: 14,224,132 (GRCm39) |
T307M |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,679,155 (GRCm39) |
P4788S |
probably damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,716 (GRCm39) |
L39F |
probably benign |
Het |
Vmn2r90 |
T |
A |
17: 17,947,122 (GRCm39) |
*121R |
probably null |
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 |
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 |
R1795:Pcdh15
|
UTSW |
10 |
74,460,087 (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 |
|
Posted On |
2015-04-16 |