Incidental Mutation 'R7449:Cacna1c'
ID 577555
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 045524-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R7449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 118564201-119173851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118579310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 1796 (D1796N)
Ref Sequence ENSEMBL: ENSMUSP00000108413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075591] [ENSMUST00000078320] [ENSMUST00000112790] [ENSMUST00000112793] [ENSMUST00000112825] [ENSMUST00000185345] [ENSMUST00000186889] [ENSMUST00000187317] [ENSMUST00000187386] [ENSMUST00000187474] [ENSMUST00000187940] [ENSMUST00000188078] [ENSMUST00000188106] [ENSMUST00000188522] [ENSMUST00000188865] [ENSMUST00000189389] [ENSMUST00000189520] [ENSMUST00000190285] [ENSMUST00000219018] [ENSMUST00000219223] [ENSMUST00000219833] [ENSMUST00000220022]
AlphaFold Q01815
Predicted Effect possibly damaging
Transcript: ENSMUST00000075591
AA Change: D1713N

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: D1713N

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 possibly damaging
Transcript: ENSMUST00000078320
AA Change: D1713N

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: D1713N

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: D1713N

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: D1713N

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
SMART Domains Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331
AA Change: D1796N

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 possibly damaging
Transcript: ENSMUST00000112825
AA Change: D1443N

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108444
Gene: ENSMUSG00000051331
AA Change: D1443N

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 possibly damaging
Transcript: ENSMUST00000185345
AA Change: D1733N

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: D1733N

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 possibly damaging
Transcript: ENSMUST00000186889
AA Change: D1743N

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
AA Change: D1743N

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 possibly damaging
Transcript: ENSMUST00000187317
AA Change: D1761N

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: D1761N

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 possibly damaging
Transcript: ENSMUST00000187386
AA Change: D1709N

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331
AA Change: D1709N

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: ENSMUST00000187474
AA Change: D1743N

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
AA Change: D1743N

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 possibly damaging
Transcript: ENSMUST00000187940
AA Change: D1743N

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
AA Change: D1743N

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: ENSMUST00000188078
AA Change: D1713N

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: D1713N

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: ENSMUST00000188106
AA Change: D1727N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: D1727N

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: ENSMUST00000188522
AA Change: D1738N

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: D1738N

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: ENSMUST00000188865
AA Change: D1713N

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: D1713N

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: D1741N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: D1741N

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: ENSMUST00000189520
AA Change: D1730N

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: D1730N

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 possibly damaging
Transcript: ENSMUST00000190285
AA Change: D1768N

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
AA Change: D1768N

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 possibly damaging
Transcript: ENSMUST00000219018
AA Change: D1554N

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000219223
AA Change: D1543N

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219833
AA Change: D1579N

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220022
AA Change: D1637N

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,035,131 (GRCm39) Y306N possibly damaging Het
Adgrv1 A T 13: 81,647,192 (GRCm39) V3116D probably damaging Het
Adss1 A T 12: 112,600,585 (GRCm39) T185S probably damaging Het
Ago2 G A 15: 73,018,348 (GRCm39) P30L probably damaging Het
Arb2a A G 13: 77,907,561 (GRCm39) I41V probably damaging Het
Atp5pf C T 16: 84,628,251 (GRCm39) V44M probably benign Het
Atp7b T A 8: 22,501,865 (GRCm39) I833F probably damaging Het
Birc6 T A 17: 75,009,336 (GRCm39) N4869K probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cnga1 A G 5: 72,762,647 (GRCm39) I289T probably benign Het
Crybg1 C A 10: 43,880,515 (GRCm39) E224D probably benign Het
Dysf T C 6: 84,114,362 (GRCm39) L1217P possibly damaging Het
Ebf2 T A 14: 67,647,469 (GRCm39) N339K probably damaging Het
Eva1c T C 16: 90,673,081 (GRCm39) probably null Het
Fam184a T C 10: 53,574,730 (GRCm39) E293G probably damaging Het
Folh1 G A 7: 86,380,956 (GRCm39) P506S probably benign Het
Ftcd A T 10: 76,415,997 (GRCm39) K210N probably benign Het
Gdf6 T A 4: 9,844,494 (GRCm39) V6D possibly damaging Het
Ghitm C A 14: 36,853,538 (GRCm39) G101C probably damaging Het
Gimap5 T A 6: 48,729,838 (GRCm39) V136D probably damaging Het
Grm4 C T 17: 27,654,345 (GRCm39) G535D probably damaging Het
Gse1 T C 8: 120,956,450 (GRCm39) S314P unknown Het
Hnrnpdl A G 5: 100,185,014 (GRCm39) I279T probably damaging Het
Idi2l T A 13: 8,993,340 (GRCm39) H51L probably damaging Het
Itpr1 T C 6: 108,366,345 (GRCm39) S923P probably damaging Het
Krt39 C A 11: 99,408,887 (GRCm39) C303F probably benign Het
Lrrn1 T C 6: 107,545,482 (GRCm39) S427P possibly damaging Het
Lrrn3 T A 12: 41,503,487 (GRCm39) R277W probably damaging Het
Ltb4r1 T C 14: 56,005,375 (GRCm39) L226P probably damaging Het
Map1b C T 13: 99,644,648 (GRCm39) R85Q probably damaging Het
Mcoln1 T C 8: 3,557,285 (GRCm39) L125P probably damaging Het
Nid1 T G 13: 13,656,636 (GRCm39) V589G probably damaging Het
Nlrp5 T G 7: 23,116,951 (GRCm39) F225C probably benign Het
Notch3 C T 17: 32,376,940 (GRCm39) A322T probably damaging Het
Or14c43 A G 7: 86,115,063 (GRCm39) H148R probably benign Het
Or52a5b G T 7: 103,417,026 (GRCm39) Q193K probably benign Het
Or7g34 T A 9: 19,478,162 (GRCm39) T173S probably benign Het
Otogl A G 10: 107,639,524 (GRCm39) C1363R probably damaging Het
Ovol1 T A 19: 5,603,625 (GRCm39) D92V probably benign Het
Pigt T C 2: 164,344,419 (GRCm39) L356P probably damaging Het
Plekhg3 A G 12: 76,612,996 (GRCm39) Q434R probably damaging Het
Plekhh1 T C 12: 79,126,326 (GRCm39) F1344L probably benign Het
Polr1has A G 17: 37,275,275 (GRCm39) D16G probably damaging Het
Psmd3 T A 11: 98,586,377 (GRCm39) L515Q probably damaging Het
Pus1 A G 5: 110,922,452 (GRCm39) L405P probably damaging Het
Qtrt2 T A 16: 43,701,395 (GRCm39) H55L probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Raver2 T A 4: 100,959,860 (GRCm39) H113Q probably damaging Het
Recql4 T C 15: 76,589,765 (GRCm39) D760G unknown Het
Rhobtb3 C T 13: 76,058,860 (GRCm39) V313M probably benign Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnf185 T C 11: 3,376,578 (GRCm39) Q135R probably benign Het
Sema3f T C 9: 107,561,235 (GRCm39) S584G probably damaging Het
Sh3pxd2a T A 19: 47,256,091 (GRCm39) T904S probably benign Het
Slc4a10 T C 2: 62,134,290 (GRCm39) V1002A probably benign Het
Taf1b T C 12: 24,554,992 (GRCm39) I55T probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tenm4 A T 7: 96,523,420 (GRCm39) D1654V possibly damaging Het
Tgfb1 G A 7: 25,404,263 (GRCm39) V357M probably damaging Het
Tnxb C T 17: 34,922,335 (GRCm39) P2383S possibly damaging Het
Trpm1 A T 7: 63,858,723 (GRCm39) M382L probably benign Het
Trrap A G 5: 144,788,019 (GRCm39) Y3516C probably damaging Het
Txnrd1 T A 10: 82,721,067 (GRCm39) Y494* probably null Het
Ubr2 C T 17: 47,275,714 (GRCm39) E811K probably damaging Het
Ubxn4 T A 1: 128,172,280 (GRCm39) F25I possibly damaging Het
Vmn2r117 A G 17: 23,678,869 (GRCm39) M785T probably damaging Het
Vmn2r99 G A 17: 19,599,407 (GRCm39) D364N probably benign Het
Vps45 C A 3: 95,954,448 (GRCm39) probably null Het
Wdr25 A C 12: 108,992,367 (GRCm39) H426P probably damaging Het
Wdr83 A T 8: 85,806,310 (GRCm39) W136R probably damaging Het
Xylt1 A C 7: 117,191,232 (GRCm39) I343L possibly damaging Het
Zscan4b T C 7: 10,637,985 (GRCm39) Q53R possibly 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
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
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'- TAGAGCTGAGCTTCCATGCTG -3'
(R):5'- AAACTGAAGGTCAAGCTCGC -3'

Sequencing Primer
(F):5'- TCCTGTACTCGGACAGCAG -3'
(R):5'- AAGGTCAAGCTCGCTCCCC -3'
Posted On 2019-10-07