Incidental Mutation 'R7463:Pcdh15'
| ID |
578567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh15
|
| Ensembl Gene |
ENSMUSG00000052613 |
| Gene Name |
protocadherin 15 |
| Synonyms |
Gm9815, nmf19, Ush1f |
| MMRRC Submission |
|
| Accession Numbers |
Genbank: NM_023115; Ensembl: ENSMUST00000105425
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
73099342-74649737 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74631770 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 1873
(S1873L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064562]
[ENSMUST00000092420]
[ENSMUST00000105424]
[ENSMUST00000105426]
[ENSMUST00000105429]
[ENSMUST00000124046]
[ENSMUST00000125055]
[ENSMUST00000125517]
[ENSMUST00000126920]
[ENSMUST00000129404]
[ENSMUST00000131321]
[ENSMUST00000131724]
[ENSMUST00000136096]
[ENSMUST00000144302]
[ENSMUST00000146682]
[ENSMUST00000147189]
[ENSMUST00000149977]
[ENSMUST00000151116]
[ENSMUST00000152655]
[ENSMUST00000152819]
[ENSMUST00000155701]
[ENSMUST00000177107]
[ENSMUST00000191709]
[ENSMUST00000191854]
[ENSMUST00000193174]
[ENSMUST00000193361]
[ENSMUST00000193739]
[ENSMUST00000194315]
[ENSMUST00000195531]
|
| AlphaFold |
Q99PJ1 |
| PDB Structure |
CRYSTAL STRUCTURE OF MOUSE CADHERIN-23 EC1-2 AND PROTOCADHERIN-15 EC1- 2 FORM I [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE CADHERIN-23 EC1-2 AND PROTOCADHERIN-15 EC1- 2 FORM II [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF DEAFNESS ASSOCIATED MUTANT MOUSE CADHERIN-23 EC1- 2D124G AND PROTOCADHERIN-15 EC1-2 FORM I [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF DEAFNESS ASSOCIATED MUTANT MOUSE CADHERIN-23 EC1- 2S70P AND PROTOCADHERIN-15 EC1-2 FORM I [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE CADHERIN-23 EC1-2 AND PROTOCADHERIN-15 EC1- 2, FORM I 2.2A. [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064562
AA Change: S1805L
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068561
Gene: ENSMUSG00000052613
AA Change: S1805L
| 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 |
possibly damaging
Transcript: ENSMUST00000092420
AA Change: S1873L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090076
Gene: ENSMUSG00000052613
AA Change: S1873L
| 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 |
possibly damaging
Transcript: ENSMUST00000105424
AA Change: S1878L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101064
Gene: ENSMUSG00000052613
AA Change: S1878L
| 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 |
possibly damaging
Transcript: ENSMUST00000105426
AA Change: S1876L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101066
Gene: ENSMUSG00000052613
AA Change: S1876L
| 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: S1807L
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101069
Gene: ENSMUSG00000052613
AA Change: S1807L
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000126920
AA Change: S1856L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121939
Gene: ENSMUSG00000052613
AA Change: S1856L
| 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 |
possibly damaging
Transcript: ENSMUST00000129404
AA Change: S1853L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117731
Gene: ENSMUSG00000052613
AA Change: S1853L
| 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 |
possibly damaging
Transcript: ENSMUST00000131321
AA Change: S1876L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122911
Gene: ENSMUSG00000052613
AA Change: S1876L
| 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: 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: 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: 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 |
possibly damaging
Transcript: ENSMUST00000147189
AA Change: S1836L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122940
Gene: ENSMUSG00000052613
AA Change: S1836L
| 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: 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: 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: 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: 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: 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: 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 |
|
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000193361
AA Change: S1883L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141792
Gene: ENSMUSG00000052613
AA Change: S1883L
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000194315
AA Change: S1273L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141594
Gene: ENSMUSG00000052613
AA Change: S1273L
| 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: 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 |
|
| Meta Mutation Damage Score |
0.3108 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,323,772 |
V435E |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,252,531 |
T8I |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,730,280 |
D413G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,434,396 |
D727V |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,637,726 |
Q309* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,569,884 |
C43* |
probably null |
Het |
| Bpifc |
T |
C |
10: 85,979,334 |
E256G |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,602,471 |
S296T |
probably benign |
Het |
| Carmil3 |
C |
T |
14: 55,502,396 |
P980L |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,593,625 |
M1K |
probably null |
Het |
| Cpt2 |
A |
T |
4: 107,908,157 |
F137I |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,094 |
I112V |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,520,476 |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,713,564 |
I90F |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,550,787 |
A457V |
possibly damaging |
Het |
| Ddx6 |
A |
G |
9: 44,628,729 |
E318G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,154,157 |
E213G |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,878,316 |
H238R |
probably damaging |
Het |
| Dnaic2 |
A |
C |
11: 114,754,406 |
I556L |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,912,225 |
V1147M |
possibly damaging |
Het |
| Egf |
G |
T |
3: 129,740,015 |
Q59K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,646,262 |
Y109* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,573,601 |
Y573* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,193,128 |
L503P |
probably damaging |
Het |
| Gnptab |
T |
G |
10: 88,431,389 |
I447M |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,578,450 |
D253N |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,266,277 |
|
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,710,645 |
T958A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,498 |
L67Q |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,243,724 |
V248A |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 100,029,563 |
I88T |
probably damaging |
Het |
| Lhx2 |
G |
A |
2: 38,351,846 |
E25K |
possibly damaging |
Het |
| Mex3d |
C |
T |
10: 80,381,698 |
G562R |
|
Het |
| Myom2 |
A |
T |
8: 15,117,679 |
Y1088F |
probably null |
Het |
| Ncapg |
T |
A |
5: 45,694,092 |
|
probably null |
Het |
| Nudc |
A |
C |
4: 133,534,403 |
V190G |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,122,860 |
R1054S |
probably benign |
Het |
| Olfr1045 |
T |
C |
2: 86,197,838 |
M305V |
probably benign |
Het |
| Olfr1510 |
A |
G |
14: 52,410,711 |
W54R |
probably benign |
Het |
| Olfr651 |
T |
C |
7: 104,553,482 |
S188P |
possibly damaging |
Het |
| Olfr683 |
T |
A |
7: 105,143,937 |
M119L |
probably benign |
Het |
| Olfr710 |
A |
T |
7: 106,944,173 |
V276E |
probably damaging |
Het |
| Olfr979 |
A |
G |
9: 40,000,564 |
V221A |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,383,572 |
R891S |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,720,998 |
K632E |
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,763,427 |
A517T |
probably damaging |
Het |
| Ptgr2 |
A |
T |
12: 84,292,298 |
|
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,473,364 |
D417N |
possibly damaging |
Het |
| Racgap1 |
T |
A |
15: 99,642,958 |
T4S |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,249,180 |
H941R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,103,435 |
H312R |
probably damaging |
Het |
| Rnf166 |
T |
A |
8: 122,467,987 |
H208L |
probably damaging |
Het |
| Theg |
T |
C |
10: 79,576,715 |
E314G |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,250,426 |
S999P |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,786,256 |
R118L |
possibly damaging |
Het |
| Tor1aip1 |
A |
T |
1: 156,007,609 |
H349Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,920,460 |
E3415V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,676,624 |
N78Y |
probably damaging |
Het |
| Wdr11 |
A |
T |
7: 129,607,086 |
D427V |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,113,437 |
|
probably benign |
Het |
| Zfp516 |
T |
A |
18: 82,957,108 |
M477K |
probably benign |
Het |
|
| Other mutations in Pcdh15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Pcdh15
|
APN |
10 |
74185345 |
nonsense |
probably null |
|
|
IGL00432:Pcdh15
|
APN |
10 |
74291082 |
splice site |
probably benign |
|
|
IGL00533:Pcdh15
|
APN |
10 |
74502720 |
missense |
probably damaging |
1.00 |
|
IGL00596:Pcdh15
|
APN |
10 |
74630744 |
missense |
probably benign |
0.00 |
|
IGL00930:Pcdh15
|
APN |
10 |
74630698 |
missense |
probably benign |
0.08 |
|
IGL00970:Pcdh15
|
APN |
10 |
74379340 |
missense |
probably damaging |
1.00 |
|
IGL01087:Pcdh15
|
APN |
10 |
74342632 |
missense |
possibly damaging |
0.90 |
|
IGL01763:Pcdh15
|
APN |
10 |
74210461 |
missense |
probably benign |
0.09 |
|
IGL01787:Pcdh15
|
APN |
10 |
74450283 |
missense |
probably benign |
0.25 |
|
IGL02070:Pcdh15
|
APN |
10 |
74630868 |
missense |
probably benign |
0.00 |
|
IGL02234:Pcdh15
|
APN |
10 |
74631862 |
missense |
probably benign |
0.02 |
|
IGL02268:Pcdh15
|
APN |
10 |
74342672 |
missense |
probably damaging |
1.00 |
|
IGL02280:Pcdh15
|
APN |
10 |
74222463 |
missense |
probably damaging |
1.00 |
|
IGL02363:Pcdh15
|
APN |
10 |
74317086 |
missense |
probably damaging |
0.98 |
|
IGL02420:Pcdh15
|
APN |
10 |
74303106 |
missense |
probably damaging |
0.98 |
|
IGL02749:Pcdh15
|
APN |
10 |
74631068 |
missense |
probably benign |
0.00 |
|
IGL02939:Pcdh15
|
APN |
10 |
74504816 |
splice site |
probably benign |
|
|
IGL02970:Pcdh15
|
APN |
10 |
74290962 |
splice site |
probably benign |
|
|
IGL03010:Pcdh15
|
APN |
10 |
74385945 |
missense |
probably damaging |
1.00 |
|
IGL03061:Pcdh15
|
APN |
10 |
74317011 |
missense |
probably damaging |
0.97 |
|
IGL03095:Pcdh15
|
APN |
10 |
74355874 |
missense |
probably damaging |
1.00 |
|
IGL03149:Pcdh15
|
APN |
10 |
74630695 |
missense |
probably damaging |
1.00 |
|
IGL03187:Pcdh15
|
APN |
10 |
74355874 |
missense |
probably damaging |
1.00 |
|
IGL03279:Pcdh15
|
APN |
10 |
74317072 |
missense |
probably damaging |
1.00 |
|
IGL03392:Pcdh15
|
APN |
10 |
74624272 |
missense |
probably damaging |
1.00 |
|
loop
|
UTSW |
10 |
74185378 |
missense |
probably damaging |
1.00 |
|
mcduck
|
UTSW |
10 |
74626844 |
critical splice donor site |
probably null |
|
|
spaz
|
UTSW |
10 |
74210425 |
missense |
probably damaging |
1.00 |
|
sphere
|
UTSW |
10 |
74624284 |
missense |
probably damaging |
1.00 |
|
squirm
|
UTSW |
10 |
|
large deletion |
|
|
|
Tortilla
|
UTSW |
10 |
74379417 |
splice site |
probably null |
|
|
1mM(1):Pcdh15
|
UTSW |
10 |
74626137 |
intron |
probably benign |
|
|
BB009:Pcdh15
|
UTSW |
10 |
74645527 |
missense |
probably benign |
0.18 |
|
BB019:Pcdh15
|
UTSW |
10 |
74645527 |
missense |
probably benign |
0.18 |
|
R0038:Pcdh15
|
UTSW |
10 |
74643440 |
missense |
possibly damaging |
0.95 |
|
R0103:Pcdh15
|
UTSW |
10 |
74210425 |
missense |
probably damaging |
1.00 |
|
R0110:Pcdh15
|
UTSW |
10 |
74290976 |
missense |
probably damaging |
1.00 |
|
R0111:Pcdh15
|
UTSW |
10 |
74626819 |
nonsense |
probably null |
|
|
R0119:Pcdh15
|
UTSW |
10 |
74170575 |
missense |
probably damaging |
1.00 |
|
R0131:Pcdh15
|
UTSW |
10 |
74170608 |
missense |
probably null |
1.00 |
|
R0445:Pcdh15
|
UTSW |
10 |
74342549 |
missense |
probably damaging |
1.00 |
|
R0464:Pcdh15
|
UTSW |
10 |
74626844 |
critical splice donor site |
probably null |
|
|
R0503:Pcdh15
|
UTSW |
10 |
74210385 |
missense |
probably damaging |
1.00 |
|
R0507:Pcdh15
|
UTSW |
10 |
74621297 |
missense |
probably damaging |
1.00 |
|
R0510:Pcdh15
|
UTSW |
10 |
74290976 |
missense |
probably damaging |
1.00 |
|
R0742:Pcdh15
|
UTSW |
10 |
74621297 |
missense |
probably damaging |
1.00 |
|
R0790:Pcdh15
|
UTSW |
10 |
74631053 |
missense |
probably benign |
0.01 |
|
R0829:Pcdh15
|
UTSW |
10 |
74502766 |
missense |
probably damaging |
1.00 |
|
R0839:Pcdh15
|
UTSW |
10 |
74626782 |
missense |
probably null |
1.00 |
|
R0882:Pcdh15
|
UTSW |
10 |
74342656 |
missense |
probably damaging |
1.00 |
|
R0894:Pcdh15
|
UTSW |
10 |
74624255 |
missense |
probably damaging |
1.00 |
|
R0944:Pcdh15
|
UTSW |
10 |
74210470 |
missense |
probably damaging |
0.99 |
|
R1081:Pcdh15
|
UTSW |
10 |
74450313 |
missense |
probably damaging |
1.00 |
|
R1148:Pcdh15
|
UTSW |
10 |
74170560 |
missense |
probably damaging |
1.00 |
|
R1148:Pcdh15
|
UTSW |
10 |
74170560 |
missense |
probably damaging |
1.00 |
|
R1484:Pcdh15
|
UTSW |
10 |
74291001 |
missense |
probably damaging |
1.00 |
|
R1521:Pcdh15
|
UTSW |
10 |
74594191 |
missense |
probably damaging |
1.00 |
|
R1694:Pcdh15
|
UTSW |
10 |
74594163 |
missense |
probably damaging |
1.00 |
|
R1795:Pcdh15
|
UTSW |
10 |
74624255 |
missense |
probably damaging |
1.00 |
|
R2021:Pcdh15
|
UTSW |
10 |
74631193 |
missense |
possibly damaging |
0.93 |
|
R2022:Pcdh15
|
UTSW |
10 |
74631193 |
missense |
possibly damaging |
0.93 |
|
R2023:Pcdh15
|
UTSW |
10 |
74631193 |
missense |
possibly damaging |
0.93 |
|
R2076:Pcdh15
|
UTSW |
10 |
74342647 |
missense |
probably damaging |
1.00 |
|
R2199:Pcdh15
|
UTSW |
10 |
74170509 |
missense |
probably damaging |
1.00 |
|
R2510:Pcdh15
|
UTSW |
10 |
74631499 |
missense |
probably benign |
0.39 |
|
R2511:Pcdh15
|
UTSW |
10 |
74645996 |
missense |
possibly damaging |
0.94 |
|
R3418:Pcdh15
|
UTSW |
10 |
74584222 |
missense |
probably benign |
0.12 |
|
R3419:Pcdh15
|
UTSW |
10 |
74584222 |
missense |
probably benign |
0.12 |
|
R3433:Pcdh15
|
UTSW |
10 |
74631499 |
missense |
probably benign |
0.39 |
|
R3619:Pcdh15
|
UTSW |
10 |
74643395 |
missense |
probably benign |
0.19 |
|
R3723:Pcdh15
|
UTSW |
10 |
74645848 |
missense |
probably benign |
0.05 |
|
R3724:Pcdh15
|
UTSW |
10 |
74645848 |
missense |
probably benign |
0.05 |
|
R3778:Pcdh15
|
UTSW |
10 |
73947151 |
splice site |
probably null |
|
|
R3851:Pcdh15
|
UTSW |
10 |
74631686 |
missense |
probably damaging |
0.97 |
|
R4175:Pcdh15
|
UTSW |
10 |
74631997 |
intron |
probably benign |
|
|
R4261:Pcdh15
|
UTSW |
10 |
74645680 |
missense |
probably damaging |
1.00 |
|
R4385:Pcdh15
|
UTSW |
10 |
74550490 |
missense |
probably damaging |
1.00 |
|
R4585:Pcdh15
|
UTSW |
10 |
74624284 |
missense |
probably damaging |
1.00 |
|
R4602:Pcdh15
|
UTSW |
10 |
74594214 |
missense |
probably damaging |
1.00 |
|
R4639:Pcdh15
|
UTSW |
10 |
74643607 |
missense |
probably benign |
0.00 |
|
R4703:Pcdh15
|
UTSW |
10 |
74450163 |
missense |
probably damaging |
1.00 |
|
R4819:Pcdh15
|
UTSW |
10 |
74324389 |
missense |
probably damaging |
1.00 |
|
R4906:Pcdh15
|
UTSW |
10 |
74504793 |
nonsense |
probably null |
|
|
R4961:Pcdh15
|
UTSW |
10 |
74379417 |
splice site |
probably null |
|
|
R5018:Pcdh15
|
UTSW |
10 |
74643775 |
missense |
possibly damaging |
0.68 |
|
R5125:Pcdh15
|
UTSW |
10 |
74584080 |
missense |
probably damaging |
0.98 |
|
R5225:Pcdh15
|
UTSW |
10 |
74303154 |
missense |
probably damaging |
1.00 |
|
R5259:Pcdh15
|
UTSW |
10 |
74396372 |
missense |
possibly damaging |
0.67 |
|
R5279:Pcdh15
|
UTSW |
10 |
74594183 |
missense |
probably damaging |
1.00 |
|
R5395:Pcdh15
|
UTSW |
10 |
74185287 |
missense |
probably damaging |
1.00 |
|
R5458:Pcdh15
|
UTSW |
10 |
74504779 |
missense |
probably damaging |
1.00 |
|
R5617:Pcdh15
|
UTSW |
10 |
74635672 |
intron |
probably benign |
|
|
R5665:Pcdh15
|
UTSW |
10 |
74626788 |
missense |
probably damaging |
1.00 |
|
R5770:Pcdh15
|
UTSW |
10 |
74185345 |
nonsense |
probably null |
|
|
R5805:Pcdh15
|
UTSW |
10 |
74230259 |
missense |
probably damaging |
1.00 |
|
R5914:Pcdh15
|
UTSW |
10 |
74630936 |
missense |
probably benign |
0.42 |
|
R5988:Pcdh15
|
UTSW |
10 |
74379357 |
missense |
probably benign |
0.05 |
|
R6133:Pcdh15
|
UTSW |
10 |
74645973 |
splice site |
probably null |
|
|
R6189:Pcdh15
|
UTSW |
10 |
74342651 |
missense |
probably null |
1.00 |
|
R6414:Pcdh15
|
UTSW |
10 |
74185426 |
missense |
probably damaging |
1.00 |
|
R6536:Pcdh15
|
UTSW |
10 |
74631389 |
missense |
probably damaging |
1.00 |
|
R6612:Pcdh15
|
UTSW |
10 |
74185378 |
missense |
probably damaging |
1.00 |
|
R6711:Pcdh15
|
UTSW |
10 |
74642387 |
missense |
possibly damaging |
0.83 |
|
R6793:Pcdh15
|
UTSW |
10 |
74631139 |
missense |
probably damaging |
1.00 |
|
R6841:Pcdh15
|
UTSW |
10 |
74450220 |
missense |
probably damaging |
1.00 |
|
R6845:Pcdh15
|
UTSW |
10 |
74630633 |
missense |
probably benign |
|
|
R6915:Pcdh15
|
UTSW |
10 |
74643809 |
missense |
probably benign |
0.16 |
|
R6954:Pcdh15
|
UTSW |
10 |
74645989 |
missense |
possibly damaging |
0.92 |
|
R6970:Pcdh15
|
UTSW |
10 |
74502687 |
missense |
probably damaging |
0.98 |
|
R7018:Pcdh15
|
UTSW |
10 |
74466354 |
missense |
probably damaging |
1.00 |
|
R7064:Pcdh15
|
UTSW |
10 |
74630614 |
missense |
possibly damaging |
0.67 |
|
R7079:Pcdh15
|
UTSW |
10 |
74317125 |
missense |
probably benign |
0.21 |
|
R7172:Pcdh15
|
UTSW |
10 |
74502765 |
missense |
probably damaging |
1.00 |
|
R7220:Pcdh15
|
UTSW |
10 |
74342609 |
missense |
possibly damaging |
0.64 |
|
R7237:Pcdh15
|
UTSW |
10 |
74584191 |
missense |
possibly damaging |
0.88 |
|
R7266:Pcdh15
|
UTSW |
10 |
74379390 |
nonsense |
probably null |
|
|
R7276:Pcdh15
|
UTSW |
10 |
74324392 |
missense |
probably benign |
0.25 |
|
R7359:Pcdh15
|
UTSW |
10 |
74584216 |
missense |
probably damaging |
0.99 |
|
R7396:Pcdh15
|
UTSW |
10 |
74630690 |
missense |
probably benign |
0.17 |
|
R7421:Pcdh15
|
UTSW |
10 |
74454065 |
missense |
possibly damaging |
0.90 |
|
R7424:Pcdh15
|
UTSW |
10 |
74506485 |
missense |
probably benign |
0.09 |
|
R7469:Pcdh15
|
UTSW |
10 |
74645980 |
missense |
probably benign |
|
|
R7512:Pcdh15
|
UTSW |
10 |
74641382 |
missense |
possibly damaging |
0.81 |
|
R7767:Pcdh15
|
UTSW |
10 |
74486256 |
missense |
probably benign |
0.07 |
|
R7830:Pcdh15
|
UTSW |
10 |
74385901 |
missense |
probably damaging |
1.00 |
|
R7890:Pcdh15
|
UTSW |
10 |
74642314 |
missense |
probably damaging |
1.00 |
|
R7897:Pcdh15
|
UTSW |
10 |
74453995 |
missense |
probably damaging |
1.00 |
|
R7908:Pcdh15
|
UTSW |
10 |
74643582 |
missense |
probably benign |
0.04 |
|
R7932:Pcdh15
|
UTSW |
10 |
74645527 |
missense |
probably benign |
0.18 |
|
R7940:Pcdh15
|
UTSW |
10 |
74594190 |
missense |
probably damaging |
1.00 |
|
R8230:Pcdh15
|
UTSW |
10 |
74355875 |
missense |
probably damaging |
1.00 |
|
R8307:Pcdh15
|
UTSW |
10 |
74506475 |
nonsense |
probably null |
|
|
R8382:Pcdh15
|
UTSW |
10 |
74643395 |
missense |
probably benign |
0.19 |
|
R8397:Pcdh15
|
UTSW |
10 |
74291033 |
missense |
probably damaging |
1.00 |
|
R8498:Pcdh15
|
UTSW |
10 |
74482142 |
missense |
probably damaging |
1.00 |
|
R8692:Pcdh15
|
UTSW |
10 |
74453973 |
missense |
possibly damaging |
0.63 |
|
R8797:Pcdh15
|
UTSW |
10 |
74584146 |
missense |
probably damaging |
1.00 |
|
R9020:Pcdh15
|
UTSW |
10 |
74645611 |
missense |
probably benign |
0.01 |
|
R9033:Pcdh15
|
UTSW |
10 |
74466306 |
missense |
probably damaging |
1.00 |
|
R9056:Pcdh15
|
UTSW |
10 |
74385899 |
missense |
probably damaging |
1.00 |
|
R9177:Pcdh15
|
UTSW |
10 |
74643623 |
missense |
probably benign |
0.13 |
|
R9191:Pcdh15
|
UTSW |
10 |
74326149 |
missense |
probably benign |
0.38 |
|
R9268:Pcdh15
|
UTSW |
10 |
74643623 |
missense |
probably benign |
0.13 |
|
R9279:Pcdh15
|
UTSW |
10 |
74625924 |
intron |
probably benign |
|
|
R9294:Pcdh15
|
UTSW |
10 |
74643728 |
missense |
unknown |
|
|
R9387:Pcdh15
|
UTSW |
10 |
74230360 |
missense |
probably damaging |
0.98 |
|
R9409:Pcdh15
|
UTSW |
10 |
74324358 |
missense |
probably damaging |
0.98 |
|
R9410:Pcdh15
|
UTSW |
10 |
74645831 |
frame shift |
probably null |
|
|
R9412:Pcdh15
|
UTSW |
10 |
74645831 |
frame shift |
probably null |
|
|
R9432:Pcdh15
|
UTSW |
10 |
74624338 |
missense |
probably damaging |
1.00 |
|
R9444:Pcdh15
|
UTSW |
10 |
74642344 |
missense |
probably damaging |
1.00 |
|
R9579:Pcdh15
|
UTSW |
10 |
74621285 |
missense |
possibly damaging |
0.89 |
|
R9643:Pcdh15
|
UTSW |
10 |
74643503 |
missense |
probably benign |
0.18 |
|
R9784:Pcdh15
|
UTSW |
10 |
74631380 |
missense |
probably benign |
0.00 |
|
RF020:Pcdh15
|
UTSW |
10 |
74185410 |
missense |
probably damaging |
1.00 |
|
Z1176:Pcdh15
|
UTSW |
10 |
74630701 |
missense |
probably benign |
0.00 |
|
Z1177:Pcdh15
|
UTSW |
10 |
74504800 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACAGACAGCATCTCTGC -3'
(R):5'- GTTCAAAATTCTCGTGCTCCG -3'
Sequencing Primer
(F):5'- GCACCAGCTGCTAAATGC -3'
(R):5'- CTCCGCTTTGAGGGTTACGAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation