Incidental Mutation 'R5665:Pcdh15'
| ID |
444355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh15
|
| Ensembl Gene |
ENSMUSG00000052613 |
| Gene Name |
protocadherin 15 |
| Synonyms |
Gm9815, nmf19, Ush1f |
| MMRRC Submission |
043308-MU
|
| Accession Numbers |
Genbank: NM_023115; Ensembl: ENSMUST00000105425
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5665 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
73099342-74649737 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74626788 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1398
(P1398L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064562]
[ENSMUST00000092420]
[ENSMUST00000105424]
[ENSMUST00000105426]
[ENSMUST00000105429]
[ENSMUST00000124046]
[ENSMUST00000125055]
[ENSMUST00000125517]
[ENSMUST00000126920]
[ENSMUST00000194315]
[ENSMUST00000147189]
[ENSMUST00000177107]
[ENSMUST00000191709]
[ENSMUST00000193174]
[ENSMUST00000193361]
[ENSMUST00000193739]
[ENSMUST00000149977]
[ENSMUST00000131321]
[ENSMUST00000191854]
[ENSMUST00000129404]
[ENSMUST00000131724]
[ENSMUST00000151116]
[ENSMUST00000136096]
[ENSMUST00000144302]
[ENSMUST00000146682]
[ENSMUST00000152655]
[ENSMUST00000152819]
[ENSMUST00000155701]
[ENSMUST00000195531]
|
| AlphaFold |
Q99PJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064562
AA Change: P1367L
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000068561
Gene: ENSMUSG00000052613
AA Change: P1367L
| 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: P1435L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090076
Gene: ENSMUSG00000052613
AA Change: P1435L
| 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: P1438L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101064
Gene: ENSMUSG00000052613
AA Change: P1438L
| 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: P1438L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101066
Gene: ENSMUSG00000052613
AA Change: P1438L
| 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 |
possibly damaging
Transcript: ENSMUST00000105429
AA Change: P1367L
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101069
Gene: ENSMUSG00000052613
AA Change: P1367L
| 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
AA Change: P1049L
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121130
Gene: ENSMUSG00000052613
AA Change: P1049L
| 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 |
probably damaging
Transcript: ENSMUST00000126920
AA Change: P1416L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121939
Gene: ENSMUSG00000052613
AA Change: P1416L
| 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 |
noncoding transcript
Transcript: ENSMUST00000127928
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194315
AA Change: P843L
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141594
Gene: ENSMUSG00000052613
AA Change: P843L
| 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: ENSMUST00000147189
AA Change: P1398L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122940
Gene: ENSMUSG00000052613
AA Change: P1398L
| 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: ENSMUST00000177107
AA Change: P1443L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135501
Gene: ENSMUSG00000052613
AA Change: P1443L
| 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 |
possibly damaging
Transcript: ENSMUST00000191709
AA Change: P1443L
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142313
Gene: ENSMUSG00000052613
AA Change: P1443L
| 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: ENSMUST00000193174
AA Change: P1445L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142238
Gene: ENSMUSG00000052613
AA Change: P1445L
| 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: ENSMUST00000193361
AA Change: P1443L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141792
Gene: ENSMUSG00000052613
AA Change: P1443L
| 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 |
possibly damaging
Transcript: ENSMUST00000193739
AA Change: P1440L
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142173
Gene: ENSMUSG00000052613
AA Change: P1440L
| 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: ENSMUST00000149977
AA Change: P1438L
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118833
Gene: ENSMUSG00000052613
AA Change: P1438L
| 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: ENSMUST00000131321
AA Change: P1438L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122911
Gene: ENSMUSG00000052613
AA Change: P1438L
| 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 |
possibly damaging
Transcript: ENSMUST00000191854
AA Change: P1438L
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141973
Gene: ENSMUSG00000052613
AA Change: P1438L
| 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: ENSMUST00000129404
AA Change: P1413L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117731
Gene: ENSMUSG00000052613
AA Change: P1413L
| 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: ENSMUST00000131724
AA Change: P1438L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122466
Gene: ENSMUSG00000052613
AA Change: P1438L
| 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 |
possibly damaging
Transcript: ENSMUST00000151116
AA Change: P1450L
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119662
Gene: ENSMUSG00000052613
AA Change: P1450L
| 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 |
noncoding transcript
Transcript: ENSMUST00000128843
|
| 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 |
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 damaging
Transcript: ENSMUST00000195531
AA Change: P1435L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141920
Gene: ENSMUSG00000052613
AA Change: P1435L
| 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 |
noncoding transcript
Transcript: ENSMUST00000194729
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,426,349 |
V173M |
probably damaging |
Het |
| Acaca |
G |
T |
11: 84,245,294 |
E492* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,616,543 |
K206M |
probably benign |
Het |
| Agbl1 |
T |
A |
7: 76,589,503 |
F584I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 21,055,047 |
I929V |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 70,002,565 |
R1566K |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,000,900 |
I1279V |
possibly damaging |
Het |
| Arl14 |
A |
C |
3: 69,223,038 |
T173P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,312,453 |
S44P |
probably damaging |
Het |
| Btbd7 |
C |
A |
12: 102,785,197 |
A1103S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,937,931 |
|
probably null |
Het |
| Capn7 |
T |
C |
14: 31,369,802 |
F719L |
probably benign |
Het |
| Casp7 |
G |
A |
19: 56,440,982 |
D267N |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,814,290 |
K348N |
probably damaging |
Het |
| Chchd1 |
T |
C |
14: 20,703,110 |
F13L |
probably benign |
Het |
| Clcn6 |
T |
A |
4: 148,014,561 |
M442L |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,827,880 |
E229G |
probably benign |
Het |
| Cyb5r3 |
A |
G |
15: 83,154,554 |
F278S |
probably damaging |
Het |
| Dhx16 |
C |
T |
17: 35,891,086 |
Q1002* |
probably null |
Het |
| Dppa4 |
T |
C |
16: 48,291,015 |
L121P |
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,917,092 |
E383G |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 138,126,589 |
T489A |
probably benign |
Het |
| Elovl1 |
G |
T |
4: 118,431,635 |
V174L |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,551,402 |
K392E |
possibly damaging |
Het |
| Fancd2os |
C |
A |
6: 113,598,024 |
W7L |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 101,110,784 |
T23A |
possibly damaging |
Het |
| Gabrp |
C |
G |
11: 33,554,308 |
A336P |
possibly damaging |
Het |
| Gcm2 |
T |
A |
13: 41,109,911 |
Y15F |
possibly damaging |
Het |
| Gpr132 |
G |
A |
12: 112,852,796 |
R137C |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,465,435 |
E3091G |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,356,102 |
M184L |
probably benign |
Het |
| Izumo1r |
T |
C |
9: 14,900,849 |
E117G |
probably damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,901,909 |
Q590* |
probably null |
Het |
| Lama1 |
G |
T |
17: 67,770,987 |
C1139F |
probably damaging |
Het |
| Med29 |
C |
T |
7: 28,386,814 |
A190T |
probably benign |
Het |
| Mgea5 |
A |
C |
19: 45,776,997 |
S124A |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,750,782 |
V220A |
probably benign |
Het |
| Mxra8 |
G |
T |
4: 155,842,921 |
V388L |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,144,181 |
|
probably null |
Het |
| Myrip |
A |
G |
9: 120,461,433 |
Y706C |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,506,485 |
V313A |
probably benign |
Het |
| Olfm2 |
T |
G |
9: 20,668,544 |
|
probably null |
Het |
| Olfr1113 |
T |
A |
2: 87,213,728 |
S279T |
probably benign |
Het |
| Olfr248 |
T |
C |
1: 174,391,375 |
F102S |
probably damaging |
Het |
| Pdpr |
A |
G |
8: 111,114,811 |
E225G |
possibly damaging |
Het |
| Pigs |
C |
A |
11: 78,328,769 |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,588,531 |
T159S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,813,586 |
T87A |
possibly damaging |
Het |
| Plxna4 |
T |
C |
6: 32,215,722 |
Y768C |
probably damaging |
Het |
| Prl3d3 |
T |
A |
13: 27,159,081 |
|
probably null |
Het |
| Pygb |
T |
C |
2: 150,820,888 |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,510,934 |
I118T |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 80,058,453 |
L1099P |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,807,632 |
K791E |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,771,545 |
T194A |
probably damaging |
Het |
| Slc12a9 |
A |
G |
5: 137,321,403 |
S617P |
possibly damaging |
Het |
| Slk |
G |
A |
19: 47,636,457 |
R1039H |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,792,139 |
E227V |
probably benign |
Het |
| Sostdc1 |
C |
A |
12: 36,314,408 |
P39T |
probably benign |
Het |
| Spred1 |
C |
T |
2: 117,153,005 |
R16* |
probably null |
Het |
| Srpk2 |
A |
G |
5: 23,518,477 |
I547T |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,759,314 |
Y54H |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,266,147 |
L272H |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,108,217 |
|
probably null |
Het |
| Uso1 |
A |
T |
5: 92,198,337 |
E793V |
possibly damaging |
Het |
| Usp15 |
A |
T |
10: 123,130,987 |
L476* |
probably null |
Het |
| Vmn1r189 |
T |
C |
13: 22,102,166 |
Y167C |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,786,979 |
T272A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,668,690 |
H1994Q |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,265,192 |
S537P |
probably damaging |
Het |
| Zbtb12 |
T |
C |
17: 34,895,883 |
S215P |
possibly damaging |
Het |
| Zfp346 |
T |
C |
13: 55,113,102 |
M81T |
probably benign |
Het |
| Zfp800 |
T |
C |
6: 28,244,513 |
D151G |
probably null |
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 |
|
|
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 |
|
R7463:Pcdh15
|
UTSW |
10 |
74631770 |
missense |
possibly damaging |
0.66 |
|
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'- GTGAATCCCCTGATAACAGAACCTC -3'
(R):5'- CTACAGTTTCTCAACTTGAGTTCTCAG -3'
Sequencing Primer
(F):5'- GAACCTCGTTATTAAGACAATAGCC -3'
(R):5'- TCAACTTGAGTTCTCAGCTATTTTAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation