Incidental Mutation 'IGL00990:Cacna1c'
ID |
306762 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cacna1c
|
Ensembl Gene |
ENSMUSG00000051331 |
Gene Name |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
Synonyms |
(alpha)1 subunit, Cav1.2, Cchl1a1, D930026N18Rik, L-type Cav1.2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.453)
|
Stock # |
IGL00990
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
118564201-119173851 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 118590256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 1416
(H1416N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075591]
[ENSMUST00000078320]
[ENSMUST00000112790]
[ENSMUST00000112793]
[ENSMUST00000112825]
[ENSMUST00000185345]
[ENSMUST00000187386]
[ENSMUST00000190285]
[ENSMUST00000187940]
[ENSMUST00000187317]
[ENSMUST00000188865]
[ENSMUST00000189520]
[ENSMUST00000186889]
[ENSMUST00000189389]
[ENSMUST00000188106]
[ENSMUST00000188078]
[ENSMUST00000188522]
[ENSMUST00000187474]
[ENSMUST00000219833]
[ENSMUST00000219223]
[ENSMUST00000219018]
[ENSMUST00000220022]
|
AlphaFold |
Q01815 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075591
AA Change: H1492N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075021 Gene: ENSMUSG00000051331 AA Change: H1492N
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
2 |
245 |
3.5e-60 |
PFAM |
PDB:4DEY|B
|
246 |
369 |
2e-57 |
PDB |
low complexity region
|
370 |
384 |
N/A |
INTRINSIC |
transmembrane domain
|
390 |
409 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
424 |
618 |
1.3e-46 |
PFAM |
low complexity region
|
633 |
643 |
N/A |
INTRINSIC |
low complexity region
|
663 |
675 |
N/A |
INTRINSIC |
low complexity region
|
711 |
718 |
N/A |
INTRINSIC |
transmembrane domain
|
762 |
784 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
801 |
1031 |
2.6e-51 |
PFAM |
Pfam:PKD_channel
|
1095 |
1348 |
2.7e-10 |
PFAM |
Pfam:Ion_trans
|
1119 |
1341 |
3.9e-70 |
PFAM |
Blast:EFh
|
1362 |
1390 |
4e-9 |
BLAST |
Ca_chan_IQ
|
1476 |
1510 |
3.28e-15 |
SMART |
low complexity region
|
1630 |
1640 |
N/A |
INTRINSIC |
low complexity region
|
1810 |
1824 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078320
AA Change: H1492N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077433 Gene: ENSMUSG00000051331 AA Change: H1492N
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
2 |
245 |
1.4e-59 |
PFAM |
PDB:4DEY|B
|
246 |
344 |
4e-63 |
PDB |
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
transmembrane domain
|
365 |
384 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
399 |
593 |
5.2e-46 |
PFAM |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
low complexity region
|
638 |
650 |
N/A |
INTRINSIC |
low complexity region
|
686 |
693 |
N/A |
INTRINSIC |
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
776 |
1006 |
2.5e-51 |
PFAM |
Pfam:PKD_channel
|
1070 |
1323 |
1.1e-9 |
PFAM |
Pfam:Ion_trans
|
1094 |
1316 |
1.5e-69 |
PFAM |
Blast:EFh
|
1337 |
1365 |
4e-9 |
BLAST |
Ca_chan_IQ
|
1451 |
1485 |
3.28e-15 |
SMART |
low complexity region
|
1605 |
1615 |
N/A |
INTRINSIC |
low complexity region
|
1785 |
1799 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112790
AA Change: H1492N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108410 Gene: ENSMUSG00000051331 AA Change: H1492N
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
2 |
245 |
5.7e-60 |
PFAM |
PDB:4DEY|B
|
246 |
344 |
4e-63 |
PDB |
low complexity region
|
345 |
359 |
N/A |
INTRINSIC |
transmembrane domain
|
365 |
384 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
399 |
593 |
2.1e-46 |
PFAM |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
low complexity region
|
638 |
650 |
N/A |
INTRINSIC |
low complexity region
|
686 |
693 |
N/A |
INTRINSIC |
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
776 |
1006 |
1e-51 |
PFAM |
Pfam:Ion_trans
|
1094 |
1305 |
1.1e-66 |
PFAM |
Pfam:PKD_channel
|
1140 |
1312 |
1.3e-8 |
PFAM |
Blast:EFh
|
1326 |
1354 |
4e-9 |
BLAST |
Ca_chan_IQ
|
1440 |
1474 |
3.28e-15 |
SMART |
low complexity region
|
1594 |
1604 |
N/A |
INTRINSIC |
low complexity region
|
1774 |
1788 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112793
AA Change: H1575N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108413 Gene: ENSMUSG00000051331 AA Change: H1575N
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
1 |
257 |
1.8e-64 |
PFAM |
Pfam:PKD_channel
|
379 |
624 |
5.8e-8 |
PFAM |
Pfam:Ion_trans
|
389 |
630 |
5e-56 |
PFAM |
low complexity region
|
633 |
643 |
N/A |
INTRINSIC |
low complexity region
|
663 |
675 |
N/A |
INTRINSIC |
low complexity region
|
711 |
718 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
765 |
1043 |
8.7e-64 |
PFAM |
Pfam:Ion_trans
|
1084 |
1411 |
6.4e-69 |
PFAM |
Pfam:PKD_channel
|
1234 |
1406 |
9.2e-9 |
PFAM |
Pfam:GPHH
|
1413 |
1482 |
7.7e-40 |
PFAM |
Ca_chan_IQ
|
1534 |
1568 |
3.28e-15 |
SMART |
Pfam:CAC1F_C
|
1577 |
2060 |
3.5e-41 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112825
AA Change: H1222N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108444 Gene: ENSMUSG00000051331 AA Change: H1222N
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
1 |
140 |
1.8e-31 |
PFAM |
PDB:4DEY|B
|
141 |
264 |
1e-54 |
PDB |
low complexity region
|
265 |
279 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
319 |
513 |
2e-46 |
PFAM |
low complexity region
|
528 |
538 |
N/A |
INTRINSIC |
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
low complexity region
|
606 |
613 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
659 |
906 |
1e-43 |
PFAM |
Pfam:Ion_trans
|
994 |
1205 |
7.1e-70 |
PFAM |
Pfam:PKD_channel
|
1041 |
1212 |
1.6e-8 |
PFAM |
Blast:EFh
|
1226 |
1254 |
4e-9 |
BLAST |
Ca_chan_IQ
|
1340 |
1374 |
3.28e-15 |
SMART |
low complexity region
|
1494 |
1504 |
N/A |
INTRINSIC |
low complexity region
|
1674 |
1688 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185345
AA Change: H1512N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140833 Gene: ENSMUSG00000051331 AA Change: H1512N
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
161 |
404 |
8.6e-60 |
PFAM |
PDB:4DEY|B
|
405 |
503 |
3e-63 |
PDB |
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
558 |
752 |
1.4e-44 |
PFAM |
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
955 |
1185 |
2.2e-50 |
PFAM |
Pfam:PKD_channel
|
1250 |
1502 |
6.9e-9 |
PFAM |
Pfam:Ion_trans
|
1273 |
1495 |
6.4e-65 |
PFAM |
Blast:EFh
|
1516 |
1544 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1630 |
1664 |
2.5e-19 |
SMART |
low complexity region
|
1784 |
1794 |
N/A |
INTRINSIC |
low complexity region
|
1964 |
1978 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185373
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187386
AA Change: H1488N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140341 Gene: ENSMUSG00000051331 AA Change: H1488N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
132 |
375 |
8.5e-60 |
PFAM |
PDB:4DEY|B
|
376 |
499 |
1e-57 |
PDB |
low complexity region
|
500 |
514 |
N/A |
INTRINSIC |
transmembrane domain
|
520 |
539 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
554 |
748 |
1.4e-44 |
PFAM |
low complexity region
|
763 |
773 |
N/A |
INTRINSIC |
low complexity region
|
793 |
805 |
N/A |
INTRINSIC |
low complexity region
|
841 |
848 |
N/A |
INTRINSIC |
transmembrane domain
|
892 |
914 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
931 |
1161 |
2.9e-49 |
PFAM |
Pfam:PKD_channel
|
1226 |
1478 |
6.8e-9 |
PFAM |
Pfam:Ion_trans
|
1249 |
1471 |
6.3e-65 |
PFAM |
Blast:EFh
|
1492 |
1520 |
4e-9 |
BLAST |
Ca_chan_IQ
|
1606 |
1640 |
2.5e-19 |
SMART |
low complexity region
|
1760 |
1770 |
N/A |
INTRINSIC |
low complexity region
|
1940 |
1954 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190285
AA Change: H1547N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141015 Gene: ENSMUSG00000051331 AA Change: H1547N
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
191 |
434 |
4e-58 |
PFAM |
PDB:4DEY|B
|
435 |
558 |
2e-57 |
PDB |
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
transmembrane domain
|
579 |
598 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
613 |
807 |
1.5e-44 |
PFAM |
low complexity region
|
822 |
832 |
N/A |
INTRINSIC |
low complexity region
|
852 |
864 |
N/A |
INTRINSIC |
low complexity region
|
900 |
907 |
N/A |
INTRINSIC |
transmembrane domain
|
951 |
973 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
990 |
1220 |
3e-49 |
PFAM |
Pfam:PKD_channel
|
1285 |
1537 |
1.4e-7 |
PFAM |
Pfam:Ion_trans
|
1308 |
1530 |
4.4e-68 |
PFAM |
Blast:EFh
|
1551 |
1579 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1665 |
1699 |
2.5e-19 |
SMART |
low complexity region
|
1819 |
1829 |
N/A |
INTRINSIC |
low complexity region
|
1999 |
2013 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187940
AA Change: H1522N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141033 Gene: ENSMUSG00000051331 AA Change: H1522N
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
191 |
434 |
7.6e-60 |
PFAM |
PDB:4DEY|B
|
435 |
533 |
4e-63 |
PDB |
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
588 |
782 |
2.8e-46 |
PFAM |
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
965 |
1195 |
5.6e-51 |
PFAM |
Pfam:PKD_channel
|
1260 |
1512 |
5.8e-11 |
PFAM |
Pfam:Ion_trans
|
1283 |
1505 |
1.2e-66 |
PFAM |
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188181
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187317
AA Change: H1540N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140693 Gene: ENSMUSG00000051331 AA Change: H1540N
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
161 |
404 |
8.8e-60 |
PFAM |
PDB:4DEY|B
|
405 |
503 |
2e-63 |
PDB |
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
558 |
752 |
1.5e-44 |
PFAM |
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
955 |
1185 |
2.3e-50 |
PFAM |
Pfam:PKD_channel
|
1249 |
1530 |
8.3e-8 |
PFAM |
Pfam:Ion_trans
|
1273 |
1326 |
5e-16 |
PFAM |
Pfam:Ion_trans
|
1323 |
1523 |
2.5e-56 |
PFAM |
Blast:EFh
|
1544 |
1572 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1658 |
1692 |
2.5e-19 |
SMART |
low complexity region
|
1812 |
1822 |
N/A |
INTRINSIC |
low complexity region
|
1992 |
2006 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188865
AA Change: H1492N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139981 Gene: ENSMUSG00000051331 AA Change: H1492N
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
161 |
404 |
8.5e-60 |
PFAM |
PDB:4DEY|B
|
405 |
503 |
5e-63 |
PDB |
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
558 |
752 |
1.4e-44 |
PFAM |
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
935 |
1165 |
6.9e-50 |
PFAM |
Pfam:PKD_channel
|
1230 |
1482 |
6.8e-9 |
PFAM |
Pfam:Ion_trans
|
1253 |
1475 |
6.3e-65 |
PFAM |
Blast:EFh
|
1496 |
1524 |
4e-9 |
BLAST |
Ca_chan_IQ
|
1610 |
1644 |
2.5e-19 |
SMART |
low complexity region
|
1764 |
1774 |
N/A |
INTRINSIC |
low complexity region
|
1944 |
1958 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189520
AA Change: H1509N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140220 Gene: ENSMUSG00000051331 AA Change: H1509N
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
161 |
404 |
8.6e-60 |
PFAM |
PDB:4DEY|B
|
405 |
503 |
4e-63 |
PDB |
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
558 |
752 |
1.4e-44 |
PFAM |
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
935 |
1165 |
7e-50 |
PFAM |
Pfam:PKD_channel
|
1229 |
1499 |
2.2e-9 |
PFAM |
Pfam:Ion_trans
|
1253 |
1305 |
6.6e-16 |
PFAM |
Pfam:Ion_trans
|
1301 |
1492 |
1.1e-56 |
PFAM |
Blast:EFh
|
1513 |
1541 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1627 |
1661 |
2.5e-19 |
SMART |
low complexity region
|
1781 |
1791 |
N/A |
INTRINSIC |
low complexity region
|
1961 |
1975 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186889
AA Change: H1522N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140056 Gene: ENSMUSG00000051331 AA Change: H1522N
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
191 |
434 |
1.5e-59 |
PFAM |
PDB:4DEY|B
|
435 |
533 |
5e-63 |
PDB |
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
588 |
782 |
5.6e-46 |
PFAM |
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
965 |
1195 |
2.7e-51 |
PFAM |
Pfam:PKD_channel
|
1261 |
1512 |
1.3e-9 |
PFAM |
Pfam:Ion_trans
|
1283 |
1505 |
1.7e-69 |
PFAM |
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189389
AA Change: H1520N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139855 Gene: ENSMUSG00000051331 AA Change: H1520N
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
161 |
404 |
8.7e-60 |
PFAM |
PDB:4DEY|B
|
405 |
503 |
4e-63 |
PDB |
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
558 |
752 |
1.5e-44 |
PFAM |
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
935 |
1165 |
3e-49 |
PFAM |
Pfam:PKD_channel
|
1229 |
1510 |
8.2e-8 |
PFAM |
Pfam:Ion_trans
|
1253 |
1306 |
5e-16 |
PFAM |
Pfam:Ion_trans
|
1303 |
1503 |
2.5e-56 |
PFAM |
Blast:EFh
|
1524 |
1552 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1638 |
1672 |
2.5e-19 |
SMART |
low complexity region
|
1792 |
1802 |
N/A |
INTRINSIC |
low complexity region
|
1972 |
1986 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188106
AA Change: H1506N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140886 Gene: ENSMUSG00000051331 AA Change: H1506N
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
161 |
404 |
8.5e-62 |
PFAM |
PDB:4DEY|B
|
405 |
528 |
2e-57 |
PDB |
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
583 |
777 |
1.4e-46 |
PFAM |
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
low complexity region
|
870 |
877 |
N/A |
INTRINSIC |
transmembrane domain
|
921 |
943 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
960 |
1190 |
2.9e-51 |
PFAM |
Pfam:Ion_trans
|
1278 |
1489 |
5.2e-70 |
PFAM |
Pfam:PKD_channel
|
1325 |
1496 |
4.8e-9 |
PFAM |
Blast:EFh
|
1510 |
1538 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1624 |
1658 |
3.28e-15 |
SMART |
low complexity region
|
1778 |
1788 |
N/A |
INTRINSIC |
low complexity region
|
1958 |
1972 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188078
AA Change: H1492N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140415 Gene: ENSMUSG00000051331 AA Change: H1492N
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
161 |
404 |
8.5e-60 |
PFAM |
PDB:4DEY|B
|
405 |
503 |
5e-63 |
PDB |
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
543 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
558 |
752 |
1.4e-44 |
PFAM |
low complexity region
|
767 |
777 |
N/A |
INTRINSIC |
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
low complexity region
|
845 |
852 |
N/A |
INTRINSIC |
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
935 |
1165 |
6.9e-50 |
PFAM |
Pfam:PKD_channel
|
1230 |
1482 |
9e-8 |
PFAM |
Pfam:Ion_trans
|
1253 |
1475 |
4.3e-68 |
PFAM |
Blast:EFh
|
1496 |
1524 |
4e-9 |
BLAST |
Ca_chan_IQ
|
1610 |
1644 |
2.5e-19 |
SMART |
low complexity region
|
1764 |
1774 |
N/A |
INTRINSIC |
low complexity region
|
1944 |
1958 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188522
AA Change: H1517N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140920 Gene: ENSMUSG00000051331 AA Change: H1517N
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
161 |
404 |
8.7e-60 |
PFAM |
PDB:4DEY|B
|
405 |
528 |
2e-57 |
PDB |
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
transmembrane domain
|
549 |
568 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
583 |
777 |
1.4e-44 |
PFAM |
low complexity region
|
792 |
802 |
N/A |
INTRINSIC |
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
low complexity region
|
870 |
877 |
N/A |
INTRINSIC |
transmembrane domain
|
921 |
943 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
960 |
1190 |
2.9e-49 |
PFAM |
Pfam:PKD_channel
|
1255 |
1507 |
7e-9 |
PFAM |
Pfam:Ion_trans
|
1278 |
1500 |
6.4e-65 |
PFAM |
Blast:EFh
|
1521 |
1549 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1635 |
1669 |
2.5e-19 |
SMART |
low complexity region
|
1789 |
1799 |
N/A |
INTRINSIC |
low complexity region
|
1969 |
1983 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187474
AA Change: H1522N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140961 Gene: ENSMUSG00000051331 AA Change: H1522N
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
191 |
434 |
7.6e-60 |
PFAM |
PDB:4DEY|B
|
435 |
533 |
4e-63 |
PDB |
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
588 |
782 |
2.8e-46 |
PFAM |
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
965 |
1195 |
5.6e-51 |
PFAM |
Pfam:PKD_channel
|
1261 |
1512 |
7.3e-10 |
PFAM |
Pfam:Ion_trans
|
1283 |
1505 |
8.3e-70 |
PFAM |
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187849
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219833
AA Change: H1358N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219223
AA Change: H1322N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219018
AA Change: H1333N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220022
AA Change: H1416N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] PHENOTYPE: Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 150 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
C |
A |
15: 64,694,162 (GRCm39) |
V372L |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,986,208 (GRCm39) |
D458G |
probably benign |
Het |
Cacna2d1 |
T |
C |
5: 16,140,067 (GRCm39) |
I19T |
probably benign |
Het |
Cadps |
T |
A |
14: 12,715,374 (GRCm38) |
T153S |
possibly damaging |
Het |
Cd200r1 |
A |
T |
16: 44,614,672 (GRCm39) |
D317V |
possibly damaging |
Het |
Cimap1c |
T |
C |
9: 56,756,341 (GRCm39) |
E225G |
probably benign |
Het |
Dcaf5 |
C |
T |
12: 80,385,606 (GRCm39) |
R840H |
probably benign |
Het |
Dnhd1 |
A |
C |
7: 105,370,895 (GRCm39) |
H4725P |
possibly damaging |
Het |
Echdc3 |
C |
A |
2: 6,200,538 (GRCm39) |
L149F |
probably benign |
Het |
Efhb |
T |
G |
17: 53,769,649 (GRCm39) |
Q220P |
possibly damaging |
Het |
Efr3b |
A |
T |
12: 4,025,411 (GRCm39) |
Y18* |
probably null |
Het |
Eri1 |
T |
C |
8: 35,949,836 (GRCm39) |
K41R |
possibly damaging |
Het |
Eri1 |
C |
A |
8: 35,949,800 (GRCm39) |
G53V |
probably benign |
Het |
Gm10212 |
A |
G |
19: 11,546,924 (GRCm39) |
|
noncoding transcript |
Het |
Gm11168 |
T |
G |
9: 3,005,124 (GRCm39) |
F201C |
probably damaging |
Het |
Gm14412 |
A |
C |
2: 177,007,479 (GRCm39) |
S139A |
probably benign |
Het |
Gm21411 |
C |
T |
4: 146,977,067 (GRCm39) |
S69N |
possibly damaging |
Het |
Gm21738 |
A |
G |
14: 19,418,885 (GRCm38) |
C16R |
probably benign |
Het |
Gm21967 |
T |
A |
13: 120,071,071 (GRCm39) |
|
probably benign |
Het |
Gm4952 |
A |
T |
19: 12,600,987 (GRCm39) |
D69V |
probably damaging |
Het |
Gm5591 |
T |
G |
7: 38,219,838 (GRCm39) |
K345T |
probably benign |
Het |
Gm7647 |
T |
C |
5: 95,110,839 (GRCm39) |
S7P |
probably benign |
Het |
Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
Gtse1 |
C |
A |
15: 85,753,018 (GRCm39) |
Q378K |
possibly damaging |
Het |
Haus3 |
T |
C |
5: 34,323,690 (GRCm39) |
K307E |
probably benign |
Het |
Hjurp |
A |
G |
1: 88,197,991 (GRCm39) |
L96S |
probably benign |
Het |
Ifi205 |
T |
A |
1: 173,854,899 (GRCm39) |
|
probably benign |
Het |
Ighg1 |
A |
G |
12: 113,292,804 (GRCm39) |
V255A |
unknown |
Het |
Ighv14-4 |
T |
A |
12: 114,140,252 (GRCm39) |
M49L |
probably benign |
Het |
Jak1 |
A |
C |
4: 101,028,554 (GRCm39) |
L508R |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,164,767 (GRCm39) |
Q821R |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,080,080 (GRCm39) |
S539P |
possibly damaging |
Het |
Klhdc2 |
T |
C |
12: 69,353,987 (GRCm39) |
V266A |
probably benign |
Het |
Lonp2 |
G |
T |
8: 87,368,161 (GRCm39) |
|
probably benign |
Het |
Mpdz |
C |
T |
4: 81,221,821 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
G |
T |
1: 88,172,692 (GRCm39) |
M823I |
probably benign |
Het |
Mroh2a |
G |
A |
1: 88,161,842 (GRCm39) |
G309D |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,158,468 (GRCm39) |
E172K |
probably damaging |
Het |
Mtif3 |
C |
A |
5: 146,895,914 (GRCm39) |
G58* |
probably null |
Het |
Muc4 |
C |
T |
16: 32,576,179 (GRCm39) |
|
probably benign |
Het |
Muc4 |
C |
T |
16: 32,575,114 (GRCm39) |
P1233L |
probably benign |
Het |
Muc4 |
G |
T |
16: 32,575,139 (GRCm39) |
K1241N |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,575,140 (GRCm39) |
G1242R |
probably benign |
Het |
Muc4 |
T |
G |
16: 32,753,863 (GRCm38) |
N1246K |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,753,886 (GRCm38) |
E1254V |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,752,569 (GRCm38) |
P816S |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,575,362 (GRCm39) |
R1316G |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,575,246 (GRCm39) |
T1277K |
possibly damaging |
Het |
Muc6 |
C |
T |
7: 141,638,890 (GRCm38) |
A1957T |
possibly damaging |
Het |
Naca |
T |
A |
10: 127,879,669 (GRCm39) |
|
probably benign |
Het |
Nars2 |
A |
T |
7: 96,651,997 (GRCm39) |
|
probably benign |
Het |
Or1j14 |
A |
C |
2: 36,418,005 (GRCm39) |
I194L |
probably benign |
Het |
Or52b3 |
G |
T |
7: 102,204,098 (GRCm39) |
L202F |
probably damaging |
Het |
Or5b12b |
G |
T |
19: 12,861,265 (GRCm39) |
V7L |
probably benign |
Het |
Or6c216 |
T |
C |
10: 129,678,342 (GRCm39) |
T190A |
probably damaging |
Het |
Pcdh7 |
G |
A |
5: 57,877,806 (GRCm39) |
E454K |
possibly damaging |
Het |
Pip5kl1 |
C |
A |
2: 32,473,359 (GRCm39) |
A332D |
probably benign |
Het |
Pisd |
A |
T |
5: 32,896,702 (GRCm39) |
S280T |
probably benign |
Het |
Pramel34 |
T |
A |
5: 93,784,336 (GRCm39) |
Q376L |
probably damaging |
Het |
Pramel5 |
A |
G |
4: 144,000,549 (GRCm39) |
L9P |
probably damaging |
Het |
Prkd3 |
G |
T |
17: 79,261,952 (GRCm39) |
N787K |
probably benign |
Het |
Prkdc |
A |
T |
16: 15,519,979 (GRCm39) |
H1139L |
probably benign |
Het |
R3hdm1 |
A |
G |
1: 128,089,933 (GRCm39) |
|
probably benign |
Het |
Rbfox2 |
T |
C |
15: 76,987,136 (GRCm39) |
N206D |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,005,536 (GRCm39) |
E1258G |
possibly damaging |
Het |
Rpl8 |
T |
C |
15: 76,789,242 (GRCm39) |
|
probably benign |
Het |
Senp5 |
A |
C |
16: 31,809,092 (GRCm39) |
V27G |
probably benign |
Het |
Serpina1b |
T |
A |
12: 103,694,525 (GRCm39) |
K406N |
probably damaging |
Het |
Sfi1 |
C |
T |
11: 3,085,671 (GRCm39) |
A853T |
probably damaging |
Het |
Sfi1 |
T |
C |
11: 3,093,689 (GRCm39) |
|
probably benign |
Het |
Sfi1 |
G |
A |
11: 3,084,337 (GRCm39) |
A975V |
probably benign |
Het |
Shc1 |
T |
C |
3: 89,331,536 (GRCm39) |
S154P |
probably damaging |
Het |
Sirpd |
C |
T |
3: 15,397,205 (GRCm39) |
|
probably null |
Het |
Skint5 |
A |
G |
4: 113,400,070 (GRCm39) |
|
probably null |
Het |
Slc17a8 |
T |
C |
10: 89,412,392 (GRCm39) |
D531G |
probably benign |
Het |
Slc4a10 |
A |
C |
2: 62,117,284 (GRCm39) |
T718P |
probably damaging |
Het |
Slc7a11 |
C |
T |
3: 50,333,518 (GRCm39) |
R411Q |
probably damaging |
Het |
Slitrk3 |
A |
G |
3: 72,957,414 (GRCm39) |
F453L |
probably damaging |
Het |
Slk |
A |
C |
19: 47,568,691 (GRCm39) |
Q20P |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,250,345 (GRCm39) |
|
probably null |
Het |
Sp110 |
G |
A |
1: 85,514,002 (GRCm39) |
R252C |
possibly damaging |
Het |
Sp140 |
G |
A |
1: 85,553,854 (GRCm39) |
R231K |
probably benign |
Het |
Sp140 |
C |
T |
1: 85,553,886 (GRCm39) |
R242C |
possibly damaging |
Het |
Speer4a3 |
A |
C |
5: 26,159,222 (GRCm39) |
W41G |
probably benign |
Het |
Speer4b |
G |
A |
5: 27,706,272 (GRCm39) |
P30S |
probably damaging |
Het |
Spef1l |
A |
C |
7: 139,558,016 (GRCm39) |
V60G |
probably damaging |
Het |
Stim1 |
T |
A |
7: 102,075,954 (GRCm39) |
H395Q |
probably damaging |
Het |
Sult2a1 |
T |
C |
7: 13,537,961 (GRCm39) |
I187M |
probably benign |
Het |
Thap1 |
G |
A |
8: 26,652,759 (GRCm39) |
D189N |
probably benign |
Het |
Thap1 |
C |
T |
8: 26,650,910 (GRCm39) |
P37L |
possibly damaging |
Het |
Thrap3 |
C |
T |
4: 126,059,188 (GRCm39) |
|
probably benign |
Het |
Tmem132d |
C |
T |
5: 127,861,896 (GRCm39) |
V742I |
possibly damaging |
Het |
Tmprss9 |
A |
G |
10: 80,728,126 (GRCm39) |
D572G |
possibly damaging |
Het |
Tmtc1 |
T |
G |
6: 148,345,442 (GRCm39) |
T86P |
probably benign |
Het |
Trip12 |
A |
T |
1: 84,729,605 (GRCm39) |
N1026K |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,923,363 (GRCm39) |
V280E |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,459,540 (GRCm39) |
D592E |
possibly damaging |
Het |
Ubr1 |
T |
G |
2: 120,761,353 (GRCm39) |
H608P |
probably damaging |
Het |
Ugt1a6b |
A |
T |
1: 88,142,900 (GRCm39) |
|
probably null |
Het |
Vmn1r77 |
C |
A |
7: 11,775,695 (GRCm39) |
S89Y |
probably benign |
Het |
Vmn1r77 |
A |
C |
7: 11,775,403 (GRCm39) |
I60L |
probably benign |
Het |
Vmn2r114 |
G |
A |
17: 23,509,939 (GRCm39) |
A847V |
probably benign |
Het |
Vmn2r114 |
A |
T |
17: 23,510,212 (GRCm39) |
L756Q |
probably damaging |
Het |
Vmn2r114 |
G |
T |
17: 23,509,957 (GRCm39) |
S841Y |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,578,753 (GRCm39) |
G742D |
probably damaging |
Het |
Vmn2r115 |
C |
T |
17: 23,565,238 (GRCm39) |
S375F |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,575,934 (GRCm39) |
M511V |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,565,346 (GRCm39) |
Q411R |
probably benign |
Het |
Vmn2r115 |
C |
T |
17: 23,565,345 (GRCm39) |
Q411* |
probably null |
Het |
Vmn2r115 |
C |
T |
17: 23,578,371 (GRCm39) |
P615S |
probably damaging |
Het |
Vmn2r115 |
A |
G |
17: 23,565,135 (GRCm39) |
N341D |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,565,252 (GRCm39) |
E380K |
probably benign |
Het |
Vmn2r115 |
A |
C |
17: 23,565,313 (GRCm39) |
N400T |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,578,798 (GRCm39) |
L757Q |
probably damaging |
Het |
Vmn2r115 |
G |
T |
17: 23,567,008 (GRCm39) |
G507* |
probably null |
Het |
Vmn2r115 |
A |
T |
17: 23,565,180 (GRCm39) |
M356L |
possibly damaging |
Het |
Vmn2r115 |
C |
T |
17: 23,565,150 (GRCm39) |
P346S |
probably benign |
Het |
Vmn2r115 |
G |
T |
17: 23,578,323 (GRCm39) |
A599S |
probably benign |
Het |
Vmn2r116 |
C |
T |
17: 23,606,210 (GRCm39) |
S374F |
probably benign |
Het |
Vmn2r116 |
C |
T |
17: 23,616,701 (GRCm39) |
P540S |
probably damaging |
Het |
Vmn2r117 |
T |
G |
17: 23,694,403 (GRCm39) |
K481N |
probably damaging |
Het |
Vmn2r117 |
C |
T |
17: 23,696,814 (GRCm39) |
A198T |
probably damaging |
Het |
Vmn2r117 |
A |
C |
17: 23,698,520 (GRCm39) |
S18A |
probably benign |
Het |
Vmn2r121 |
T |
G |
X: 123,037,499 (GRCm39) |
K840N |
probably benign |
Het |
Vmn2r121 |
C |
T |
X: 123,043,413 (GRCm39) |
E73K |
probably benign |
Het |
Vmn2r121 |
T |
A |
X: 123,037,480 (GRCm39) |
N847Y |
possibly damaging |
Het |
Vmn2r125 |
T |
A |
4: 156,703,521 (GRCm39) |
L300M |
probably benign |
Het |
Vmn2r125 |
A |
T |
4: 156,703,332 (GRCm39) |
T237S |
probably benign |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r125 |
C |
A |
4: 156,703,194 (GRCm39) |
Q191K |
probably benign |
Het |
Vmn2r125 |
A |
C |
4: 156,703,195 (GRCm39) |
Q191P |
probably benign |
Het |
Vmn2r125 |
T |
C |
4: 156,703,261 (GRCm39) |
V213A |
probably benign |
Het |
Vmn2r125 |
T |
C |
4: 156,703,678 (GRCm39) |
M352T |
probably benign |
Het |
Vmn2r129 |
C |
A |
4: 156,690,730 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
A |
T |
4: 156,690,441 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
T |
G |
4: 156,690,779 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
T |
G |
4: 156,686,857 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
T |
C |
4: 156,686,558 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
G |
T |
4: 156,690,755 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r88 |
A |
G |
14: 51,650,582 (GRCm39) |
I98M |
probably benign |
Het |
Vmn2r88 |
C |
T |
14: 51,654,259 (GRCm39) |
P539L |
possibly damaging |
Het |
Vmn2r88 |
T |
C |
14: 51,650,713 (GRCm39) |
I142T |
probably benign |
Het |
Vmn2r88 |
T |
C |
14: 51,650,517 (GRCm39) |
F77L |
probably benign |
Het |
Vmn2r89 |
A |
C |
14: 51,693,428 (GRCm39) |
Q259H |
probably benign |
Het |
Vmn2r89 |
T |
G |
14: 51,694,950 (GRCm39) |
L477V |
probably benign |
Het |
Zfp180 |
C |
T |
7: 23,804,255 (GRCm39) |
R225C |
probably benign |
Het |
Zfp180 |
G |
A |
7: 23,803,841 (GRCm39) |
C85Y |
possibly damaging |
Het |
Zfp180 |
G |
A |
7: 23,804,420 (GRCm39) |
V280M |
possibly damaging |
Het |
Zfp982 |
G |
A |
4: 147,596,826 (GRCm39) |
C61Y |
probably benign |
Het |
|
Other mutations in Cacna1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Cacna1c
|
APN |
6 |
118,653,405 (GRCm39) |
splice site |
probably benign |
|
IGL01352:Cacna1c
|
APN |
6 |
118,633,518 (GRCm39) |
nonsense |
probably null |
|
IGL01922:Cacna1c
|
APN |
6 |
118,629,629 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02008:Cacna1c
|
APN |
6 |
118,692,885 (GRCm39) |
missense |
probably null |
0.25 |
IGL02049:Cacna1c
|
APN |
6 |
118,580,880 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02320:Cacna1c
|
APN |
6 |
118,614,753 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Cacna1c
|
APN |
6 |
118,652,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02454:Cacna1c
|
APN |
6 |
118,579,141 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02544:Cacna1c
|
APN |
6 |
118,728,440 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02648:Cacna1c
|
APN |
6 |
118,734,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03191:Cacna1c
|
APN |
6 |
118,718,864 (GRCm39) |
missense |
probably damaging |
1.00 |
Being
|
UTSW |
6 |
118,629,671 (GRCm39) |
missense |
probably damaging |
1.00 |
Kundera
|
UTSW |
6 |
118,590,300 (GRCm39) |
missense |
probably damaging |
1.00 |
unbearable
|
UTSW |
6 |
118,575,720 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4418001:Cacna1c
|
UTSW |
6 |
118,631,384 (GRCm39) |
missense |
|
|
PIT4469001:Cacna1c
|
UTSW |
6 |
118,572,933 (GRCm39) |
missense |
unknown |
|
R0041:Cacna1c
|
UTSW |
6 |
118,570,988 (GRCm39) |
missense |
probably damaging |
0.99 |
R0062:Cacna1c
|
UTSW |
6 |
118,579,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Cacna1c
|
UTSW |
6 |
118,579,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Cacna1c
|
UTSW |
6 |
118,602,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Cacna1c
|
UTSW |
6 |
118,602,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R0142:Cacna1c
|
UTSW |
6 |
118,580,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R0193:Cacna1c
|
UTSW |
6 |
118,579,363 (GRCm39) |
splice site |
probably benign |
|
R0245:Cacna1c
|
UTSW |
6 |
118,581,415 (GRCm39) |
missense |
probably benign |
0.10 |
R0394:Cacna1c
|
UTSW |
6 |
118,602,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Cacna1c
|
UTSW |
6 |
118,579,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Cacna1c
|
UTSW |
6 |
118,579,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R0730:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Cacna1c
|
UTSW |
6 |
118,607,224 (GRCm39) |
missense |
probably benign |
0.07 |
R0828:Cacna1c
|
UTSW |
6 |
118,734,347 (GRCm39) |
missense |
probably benign |
0.24 |
R0837:Cacna1c
|
UTSW |
6 |
118,607,231 (GRCm39) |
nonsense |
probably null |
|
R0881:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R0882:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R0924:Cacna1c
|
UTSW |
6 |
118,652,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R0930:Cacna1c
|
UTSW |
6 |
118,652,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R1157:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1158:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1159:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1160:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1237:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1238:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1239:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1337:Cacna1c
|
UTSW |
6 |
118,604,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1433:Cacna1c
|
UTSW |
6 |
118,629,754 (GRCm39) |
nonsense |
probably null |
|
R1463:Cacna1c
|
UTSW |
6 |
118,570,955 (GRCm39) |
missense |
probably benign |
0.27 |
R1517:Cacna1c
|
UTSW |
6 |
118,575,720 (GRCm39) |
missense |
probably benign |
0.01 |
R1619:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1704:Cacna1c
|
UTSW |
6 |
118,579,107 (GRCm39) |
missense |
probably benign |
0.01 |
R1739:Cacna1c
|
UTSW |
6 |
118,587,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R1804:Cacna1c
|
UTSW |
6 |
118,664,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Cacna1c
|
UTSW |
6 |
118,753,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Cacna1c
|
UTSW |
6 |
118,589,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1944:Cacna1c
|
UTSW |
6 |
118,583,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Cacna1c
|
UTSW |
6 |
118,607,283 (GRCm39) |
missense |
probably benign |
0.05 |
R2043:Cacna1c
|
UTSW |
6 |
118,573,049 (GRCm39) |
missense |
probably benign |
0.01 |
R2045:Cacna1c
|
UTSW |
6 |
118,633,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R2217:Cacna1c
|
UTSW |
6 |
118,647,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Cacna1c
|
UTSW |
6 |
118,629,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2509:Cacna1c
|
UTSW |
6 |
118,711,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R3157:Cacna1c
|
UTSW |
6 |
118,728,485 (GRCm39) |
missense |
probably benign |
0.00 |
R3739:Cacna1c
|
UTSW |
6 |
118,718,913 (GRCm39) |
missense |
probably benign |
|
R3831:Cacna1c
|
UTSW |
6 |
118,581,424 (GRCm39) |
missense |
probably benign |
0.06 |
R4319:Cacna1c
|
UTSW |
6 |
118,631,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R4477:Cacna1c
|
UTSW |
6 |
118,607,200 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4571:Cacna1c
|
UTSW |
6 |
118,607,341 (GRCm39) |
missense |
probably benign |
|
R4671:Cacna1c
|
UTSW |
6 |
118,629,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Cacna1c
|
UTSW |
6 |
118,633,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4741:Cacna1c
|
UTSW |
6 |
118,590,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R4798:Cacna1c
|
UTSW |
6 |
118,607,263 (GRCm39) |
nonsense |
probably null |
|
R4803:Cacna1c
|
UTSW |
6 |
118,728,502 (GRCm39) |
missense |
probably damaging |
0.99 |
R4821:Cacna1c
|
UTSW |
6 |
118,673,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R4888:Cacna1c
|
UTSW |
6 |
118,728,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Cacna1c
|
UTSW |
6 |
118,728,432 (GRCm39) |
missense |
probably benign |
0.00 |
R5253:Cacna1c
|
UTSW |
6 |
118,574,930 (GRCm39) |
missense |
probably benign |
0.01 |
R5297:Cacna1c
|
UTSW |
6 |
118,719,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R5345:Cacna1c
|
UTSW |
6 |
118,633,497 (GRCm39) |
critical splice donor site |
probably null |
|
R5364:Cacna1c
|
UTSW |
6 |
118,633,504 (GRCm39) |
missense |
probably benign |
0.35 |
R5439:Cacna1c
|
UTSW |
6 |
118,631,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R5472:Cacna1c
|
UTSW |
6 |
118,615,407 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5516:Cacna1c
|
UTSW |
6 |
119,034,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Cacna1c
|
UTSW |
6 |
118,664,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R5619:Cacna1c
|
UTSW |
6 |
118,719,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R5684:Cacna1c
|
UTSW |
6 |
118,664,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R5737:Cacna1c
|
UTSW |
6 |
118,718,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R5768:Cacna1c
|
UTSW |
6 |
118,674,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Cacna1c
|
UTSW |
6 |
118,589,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R5965:Cacna1c
|
UTSW |
6 |
118,579,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Cacna1c
|
UTSW |
6 |
118,573,101 (GRCm39) |
missense |
probably benign |
0.07 |
R6161:Cacna1c
|
UTSW |
6 |
119,034,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Cacna1c
|
UTSW |
6 |
118,629,675 (GRCm39) |
missense |
probably benign |
0.09 |
R6267:Cacna1c
|
UTSW |
6 |
118,575,684 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6296:Cacna1c
|
UTSW |
6 |
118,629,675 (GRCm39) |
missense |
probably benign |
0.09 |
R6296:Cacna1c
|
UTSW |
6 |
118,575,684 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6307:Cacna1c
|
UTSW |
6 |
118,590,914 (GRCm39) |
missense |
probably damaging |
0.97 |
R6431:Cacna1c
|
UTSW |
6 |
118,728,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Cacna1c
|
UTSW |
6 |
118,629,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R7026:Cacna1c
|
UTSW |
6 |
118,614,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R7049:Cacna1c
|
UTSW |
6 |
118,578,124 (GRCm39) |
missense |
probably benign |
0.35 |
R7072:Cacna1c
|
UTSW |
6 |
118,573,067 (GRCm39) |
missense |
|
|
R7192:Cacna1c
|
UTSW |
6 |
118,633,210 (GRCm39) |
missense |
|
|
R7243:Cacna1c
|
UTSW |
6 |
118,614,690 (GRCm39) |
critical splice donor site |
probably null |
|
R7250:Cacna1c
|
UTSW |
6 |
118,673,412 (GRCm39) |
missense |
|
|
R7250:Cacna1c
|
UTSW |
6 |
118,574,966 (GRCm39) |
missense |
|
|
R7264:Cacna1c
|
UTSW |
6 |
118,579,156 (GRCm39) |
missense |
|
|
R7312:Cacna1c
|
UTSW |
6 |
119,034,172 (GRCm39) |
missense |
|
|
R7392:Cacna1c
|
UTSW |
6 |
118,718,881 (GRCm39) |
missense |
|
|
R7401:Cacna1c
|
UTSW |
6 |
119,029,669 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7449:Cacna1c
|
UTSW |
6 |
118,579,310 (GRCm39) |
missense |
|
|
R7451:Cacna1c
|
UTSW |
6 |
118,570,981 (GRCm39) |
missense |
unknown |
|
R7491:Cacna1c
|
UTSW |
6 |
118,590,304 (GRCm39) |
missense |
|
|
R7507:Cacna1c
|
UTSW |
6 |
119,034,200 (GRCm39) |
missense |
|
|
R7573:Cacna1c
|
UTSW |
6 |
118,581,406 (GRCm39) |
missense |
|
|
R7702:Cacna1c
|
UTSW |
6 |
118,575,727 (GRCm39) |
missense |
|
|
R7745:Cacna1c
|
UTSW |
6 |
119,029,587 (GRCm39) |
missense |
|
|
R7834:Cacna1c
|
UTSW |
6 |
118,587,542 (GRCm39) |
missense |
|
|
R7867:Cacna1c
|
UTSW |
6 |
118,753,407 (GRCm39) |
missense |
|
|
R8199:Cacna1c
|
UTSW |
6 |
118,651,545 (GRCm39) |
missense |
probably benign |
|
R8252:Cacna1c
|
UTSW |
6 |
118,634,335 (GRCm39) |
missense |
|
|
R8300:Cacna1c
|
UTSW |
6 |
118,575,717 (GRCm39) |
missense |
|
|
R8319:Cacna1c
|
UTSW |
6 |
118,614,735 (GRCm39) |
missense |
|
|
R8331:Cacna1c
|
UTSW |
6 |
118,607,290 (GRCm39) |
missense |
|
|
R8446:Cacna1c
|
UTSW |
6 |
118,604,411 (GRCm39) |
missense |
|
|
R8708:Cacna1c
|
UTSW |
6 |
118,604,416 (GRCm39) |
missense |
|
|
R8717:Cacna1c
|
UTSW |
6 |
119,034,314 (GRCm39) |
missense |
|
|
R8765:Cacna1c
|
UTSW |
6 |
118,580,844 (GRCm39) |
missense |
|
|
R8772:Cacna1c
|
UTSW |
6 |
118,579,283 (GRCm39) |
missense |
|
|
R8826:Cacna1c
|
UTSW |
6 |
118,711,836 (GRCm39) |
missense |
|
|
R8859:Cacna1c
|
UTSW |
6 |
118,653,280 (GRCm39) |
missense |
|
|
R8951:Cacna1c
|
UTSW |
6 |
118,590,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Cacna1c
|
UTSW |
6 |
118,719,232 (GRCm39) |
nonsense |
probably null |
|
R9013:Cacna1c
|
UTSW |
6 |
118,719,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R9032:Cacna1c
|
UTSW |
6 |
118,615,466 (GRCm39) |
nonsense |
probably null |
|
R9034:Cacna1c
|
UTSW |
6 |
118,728,359 (GRCm39) |
missense |
|
|
R9085:Cacna1c
|
UTSW |
6 |
118,615,466 (GRCm39) |
nonsense |
probably null |
|
R9130:Cacna1c
|
UTSW |
6 |
118,590,907 (GRCm39) |
missense |
|
|
R9197:Cacna1c
|
UTSW |
6 |
118,590,950 (GRCm39) |
missense |
|
|
R9249:Cacna1c
|
UTSW |
6 |
118,590,288 (GRCm39) |
missense |
|
|
R9276:Cacna1c
|
UTSW |
6 |
118,601,394 (GRCm39) |
missense |
|
|
R9331:Cacna1c
|
UTSW |
6 |
119,084,909 (GRCm39) |
missense |
|
|
R9342:Cacna1c
|
UTSW |
6 |
119,034,335 (GRCm39) |
missense |
|
|
R9606:Cacna1c
|
UTSW |
6 |
118,587,455 (GRCm39) |
missense |
|
|
R9697:Cacna1c
|
UTSW |
6 |
118,589,598 (GRCm39) |
missense |
|
|
R9755:Cacna1c
|
UTSW |
6 |
118,651,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R9773:Cacna1c
|
UTSW |
6 |
118,647,371 (GRCm39) |
missense |
|
|
X0065:Cacna1c
|
UTSW |
6 |
118,634,337 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cacna1c
|
UTSW |
6 |
118,674,698 (GRCm39) |
missense |
|
|
Z1177:Cacna1c
|
UTSW |
6 |
118,734,622 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2015-04-16 |