Incidental Mutation 'R1517:Cacna1c'
ID 167096
Institutional Source Beutler Lab
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
MMRRC Submission 039563-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R1517 (G1)
Quality Score 191
Status Validated
Chromosome 6
Chromosomal Location 118564201-119173851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118575720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1860 (Y1860F)
Ref Sequence ENSEMBL: ENSMUSP00000139981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075591] [ENSMUST00000078320] [ENSMUST00000112790] [ENSMUST00000112793] [ENSMUST00000112825] [ENSMUST00000185345] [ENSMUST00000186889] [ENSMUST00000187474] [ENSMUST00000188106] [ENSMUST00000188865] [ENSMUST00000189389] [ENSMUST00000187940] [ENSMUST00000189520] [ENSMUST00000187386] [ENSMUST00000188078] [ENSMUST00000190285] [ENSMUST00000188522] [ENSMUST00000187317] [ENSMUST00000219018] [ENSMUST00000220022] [ENSMUST00000219223] [ENSMUST00000219833]
AlphaFold Q01815
Predicted Effect probably benign
Transcript: ENSMUST00000075591
AA Change: Y1860F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: Y1860F

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 benign
Transcript: ENSMUST00000078320
AA Change: Y1860F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: Y1860F

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 benign
Transcript: ENSMUST00000112790
AA Change: Y1860F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: Y1860F

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 benign
Transcript: ENSMUST00000112793
AA Change: Y1943F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331
AA Change: Y1943F

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 benign
Transcript: ENSMUST00000112825
AA Change: Y1590F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108444
Gene: ENSMUSG00000051331
AA Change: Y1590F

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 benign
Transcript: ENSMUST00000185345
AA Change: Y1880F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: Y1880F

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 probably benign
Transcript: ENSMUST00000186889
AA Change: Y1890F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
AA Change: Y1890F

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 benign
Transcript: ENSMUST00000187474
AA Change: Y1890F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
AA Change: Y1890F

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 probably benign
Transcript: ENSMUST00000188106
AA Change: Y1874F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: Y1874F

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 benign
Transcript: ENSMUST00000188865
AA Change: Y1860F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: Y1860F

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 benign
Transcript: ENSMUST00000189389
AA Change: Y1888F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: Y1888F

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 benign
Transcript: ENSMUST00000187940
AA Change: Y1890F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
AA Change: Y1890F

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 probably benign
Transcript: ENSMUST00000189520
AA Change: Y1877F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: Y1877F

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 benign
Transcript: ENSMUST00000187386
AA Change: Y1856F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331
AA Change: Y1856F

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 benign
Transcript: ENSMUST00000188078
AA Change: Y1860F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: Y1860F

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 benign
Transcript: ENSMUST00000190285
AA Change: Y1915F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
AA Change: Y1915F

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 benign
Transcript: ENSMUST00000188522
AA Change: Y1885F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: Y1885F

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 benign
Transcript: ENSMUST00000187317
AA Change: Y1908F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: Y1908F

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 noncoding transcript
Transcript: ENSMUST00000188181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191196
Predicted Effect probably benign
Transcript: ENSMUST00000219018
AA Change: Y1701F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000220022
AA Change: Y1784F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219223
AA Change: Y1690F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000219833
AA Change: Y1726F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0602 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,862,640 (GRCm39) K375R possibly damaging Het
Adrb2 T C 18: 62,311,871 (GRCm39) N318S probably damaging Het
Akap5 A C 12: 76,376,036 (GRCm39) E489D possibly damaging Het
Aldh7a1 T A 18: 56,665,133 (GRCm39) I385F probably damaging Het
Astn1 T A 1: 158,407,146 (GRCm39) probably benign Het
Atp7b T A 8: 22,487,374 (GRCm39) T1314S probably damaging Het
Bhmt2 C A 13: 93,798,847 (GRCm39) G325C probably damaging Het
Brpf1 T A 6: 113,296,050 (GRCm39) V781E probably benign Het
Ccdc7a T C 8: 129,788,162 (GRCm39) T56A probably damaging Het
Cep78 A G 19: 15,937,027 (GRCm39) S560P probably damaging Het
Cnot1 G A 8: 96,469,841 (GRCm39) T1343I probably benign Het
Coq10b T C 1: 55,103,416 (GRCm39) S65P probably damaging Het
Creld1 T A 6: 113,466,745 (GRCm39) C243S probably damaging Het
Cst12 A T 2: 148,635,172 (GRCm39) I121F possibly damaging Het
Cyp26a1 A C 19: 37,687,308 (GRCm39) E165A probably benign Het
Cyp2d12 T G 15: 82,442,337 (GRCm39) M273R probably damaging Het
Dnajb7 T A 15: 81,291,657 (GRCm39) S227C probably damaging Het
Evc T A 5: 37,476,379 (GRCm39) Q390L probably damaging Het
F830016B08Rik T A 18: 60,433,970 (GRCm39) L351* probably null Het
Fga T C 3: 82,939,145 (GRCm39) S507P probably benign Het
Gba1 A T 3: 89,113,455 (GRCm39) Y239F probably damaging Het
Golga2 C A 2: 32,195,996 (GRCm39) Y843* probably null Het
Gria4 C A 9: 4,793,865 (GRCm39) L64F probably damaging Het
Hectd3 A G 4: 116,860,191 (GRCm39) Y803C probably damaging Het
Hmcn1 T C 1: 150,545,172 (GRCm39) K2812E probably damaging Het
Il17b T G 18: 61,823,316 (GRCm39) V50G probably damaging Het
Itga2b A T 11: 102,357,151 (GRCm39) L243* probably null Het
Kank4 C A 4: 98,667,266 (GRCm39) V394L possibly damaging Het
Kat14 T A 2: 144,215,711 (GRCm39) D65E probably benign Het
Kcnh3 T C 15: 99,136,090 (GRCm39) Y696H probably damaging Het
Kctd19 C A 8: 106,122,008 (GRCm39) D180Y probably damaging Het
Klra8 A C 6: 130,092,603 (GRCm39) S233A probably benign Het
Masp2 A T 4: 148,696,563 (GRCm39) T387S possibly damaging Het
Midn C A 10: 79,989,957 (GRCm39) T275N probably damaging Het
Mis18bp1 A G 12: 65,180,587 (GRCm39) F965L probably benign Het
Myo3a G T 2: 22,287,445 (GRCm39) V186L probably damaging Het
Ncoa2 T A 1: 13,235,281 (GRCm39) N884I probably benign Het
Or10d4 T C 9: 39,581,016 (GRCm39) I221T probably damaging Het
Or13c25 A T 4: 52,911,502 (GRCm39) C97* probably null Het
Or8k35 T A 2: 86,424,948 (GRCm39) T75S probably damaging Het
Osr2 T C 15: 35,300,813 (GRCm39) V123A probably benign Het
P4ha2 A G 11: 54,008,471 (GRCm39) H226R probably benign Het
Pcdhb16 T A 18: 37,611,151 (GRCm39) V37E probably benign Het
Pcdhb18 T A 18: 37,622,673 (GRCm39) M1K probably null Het
Pcsk1 T A 13: 75,246,166 (GRCm39) Y181* probably null Het
Pros1 G T 16: 62,705,875 (GRCm39) C63F probably damaging Het
Ranbp3l T A 15: 9,065,081 (GRCm39) C353* probably null Het
Rev3l T C 10: 39,714,439 (GRCm39) Y2388H probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rpl12-ps1 G T 1: 36,997,458 (GRCm39) noncoding transcript Het
Rttn T C 18: 89,131,474 (GRCm39) V1951A probably benign Het
Scn9a G A 2: 66,335,371 (GRCm39) probably benign Het
Sdk1 T C 5: 142,113,591 (GRCm39) F1546S probably damaging Het
Sh3glb2 C T 2: 30,244,987 (GRCm39) R71Q probably damaging Het
Slc30a6 T C 17: 74,715,842 (GRCm39) F101L probably benign Het
Snrpd1 T C 18: 10,626,913 (GRCm39) I60T probably damaging Het
Sox10 T A 15: 79,043,378 (GRCm39) E218D probably benign Het
Tekt3 C A 11: 62,961,316 (GRCm39) H162N probably damaging Het
Tnfsf13 T C 11: 69,575,564 (GRCm39) S246G possibly damaging Het
Trim10 T A 17: 37,183,346 (GRCm39) I214N probably damaging Het
Trp63 C A 16: 25,708,003 (GRCm39) D566E probably damaging Het
Uck2 T C 1: 167,062,293 (GRCm39) D156G probably damaging Het
Zfp386 T A 12: 116,023,225 (GRCm39) S314R possibly damaging Het
Zfp467 C T 6: 48,415,170 (GRCm39) R494H probably damaging Het
Zfp735 A T 11: 73,601,470 (GRCm39) D138V probably benign Het
Zfyve26 T C 12: 79,298,925 (GRCm39) E445G probably damaging Het
Other mutations in Cacna1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Cacna1c APN 6 118,653,405 (GRCm39) splice site probably benign
IGL00990:Cacna1c APN 6 118,590,256 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACGTTGCATGTCTACCAGGCCATC -3'
(R):5'- CACTGGCTGAAATCAGCAATGCAAG -3'

Sequencing Primer
(F):5'- CTATAGACATTGTCTAAGTGAGGCCC -3'
(R):5'- agcccagggggaaaaaac -3'
Posted On 2014-04-13