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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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