Incidental Mutation 'R4888:Cacna1c'
ID 377086
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 042493-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R4888 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 118564201-119173851 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118728400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 378 (N378S)
Ref Sequence ENSEMBL: ENSMUSP00000141015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075591] [ENSMUST00000078320] [ENSMUST00000112790] [ENSMUST00000112793] [ENSMUST00000112825] [ENSMUST00000185345] [ENSMUST00000188106] [ENSMUST00000189389] [ENSMUST00000187317] [ENSMUST00000188078] [ENSMUST00000187474] [ENSMUST00000188522] [ENSMUST00000187940] [ENSMUST00000186889] [ENSMUST00000189520] [ENSMUST00000188865] [ENSMUST00000187386] [ENSMUST00000190285] [ENSMUST00000219833] [ENSMUST00000219223] [ENSMUST00000220022] [ENSMUST00000219018]
AlphaFold Q01815
Predicted Effect probably damaging
Transcript: ENSMUST00000075591
AA Change: N348S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: N348S

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: N348S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: N348S

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: N348S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: N348S

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: N348S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331
AA Change: N348S

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: N84S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108444
Gene: ENSMUSG00000051331
AA Change: N84S

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: N348S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: N348S

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 damaging
Transcript: ENSMUST00000188106
AA Change: N348S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: N348S

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: ENSMUST00000189389
AA Change: N348S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: N348S

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: ENSMUST00000187317
AA Change: N348S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: N348S

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: ENSMUST00000188078
AA Change: N348S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: N348S

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: ENSMUST00000187474
AA Change: N378S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
AA Change: N378S

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 damaging
Transcript: ENSMUST00000188522
AA Change: N348S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: N348S

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: ENSMUST00000187940
AA Change: N378S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
AA Change: N378S

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 damaging
Transcript: ENSMUST00000186889
AA Change: N378S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
AA Change: N378S

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: ENSMUST00000189520
AA Change: N348S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: N348S

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: ENSMUST00000188865
AA Change: N348S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: N348S

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: ENSMUST00000187386
AA Change: N319S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331
AA Change: N319S

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 noncoding transcript
Transcript: ENSMUST00000188181
Predicted Effect probably damaging
Transcript: ENSMUST00000190285
AA Change: N378S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
AA Change: N378S

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: ENSMUST00000219833
AA Change: N189S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000219223
AA Change: N189S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000220022
AA Change: N189S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000219018
AA Change: N189S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.7935 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (150/151)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931403M11Rik C A 14: 24,671,419 (GRCm39) noncoding transcript Het
Abca7 A G 10: 79,838,562 (GRCm39) K612R probably damaging Het
Adamtsl3 T C 7: 82,223,822 (GRCm39) V275A possibly damaging Het
Afg3l1 G A 8: 124,215,065 (GRCm39) probably null Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Alcam T A 16: 52,089,176 (GRCm39) H508L probably benign Het
Ankrd45 G A 1: 160,982,942 (GRCm39) R151H probably damaging Het
Aqr G A 2: 113,980,990 (GRCm39) L264F probably damaging Het
Arfgef2 G A 2: 166,677,533 (GRCm39) A53T probably damaging Het
Arhgap30 A G 1: 171,236,880 (GRCm39) T1085A probably benign Het
Atp10a T C 7: 58,435,055 (GRCm39) V314A probably damaging Het
Bdp1 T C 13: 100,187,627 (GRCm39) D1580G probably benign Het
Btbd17 T A 11: 114,684,917 (GRCm39) T41S possibly damaging Het
Camsap1 G T 2: 25,825,562 (GRCm39) Q1375K probably benign Het
Catsper2 G T 2: 121,227,604 (GRCm39) probably null Het
Cblif A G 19: 11,729,583 (GRCm39) T181A probably benign Het
Ccar1 A G 10: 62,588,997 (GRCm39) S829P unknown Het
Ccdc180 T C 4: 45,909,308 (GRCm39) L492P probably damaging Het
Ccser2 A T 14: 36,662,343 (GRCm39) N280K probably damaging Het
Cd37 T C 7: 44,883,359 (GRCm39) D271G probably damaging Het
Cdcp1 G A 9: 123,011,194 (GRCm39) probably benign Het
Cemip2 T C 19: 21,833,528 (GRCm39) V1322A probably benign Het
Cep85 T A 4: 133,892,062 (GRCm39) probably benign Het
Cfi C T 3: 129,666,726 (GRCm39) P483L probably damaging Het
Csmd1 A G 8: 15,945,674 (GRCm39) probably benign Het
Cytl1 G T 5: 37,892,918 (GRCm39) L9F unknown Het
Defb26 T C 2: 152,350,085 (GRCm39) E65G possibly damaging Het
Degs1 G A 1: 182,104,370 (GRCm39) T305I probably damaging Het
Dnttip2 T G 3: 122,070,241 (GRCm39) C485W probably damaging Het
Ecel1 G A 1: 87,076,449 (GRCm39) probably benign Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Elmo2 A T 2: 165,137,209 (GRCm39) C562S probably benign Het
Etl4 T A 2: 20,344,922 (GRCm39) probably null Het
F2r A C 13: 95,740,905 (GRCm39) V210G probably damaging Het
Fam171a1 T A 2: 3,224,546 (GRCm39) V179E probably damaging Het
Fmod G T 1: 133,967,977 (GRCm39) V6F possibly damaging Het
Foxr2 A G X: 151,913,312 (GRCm39) Q61R probably damaging Het
Gabra4 G A 5: 71,729,546 (GRCm39) H76Y probably benign Het
Gck A T 11: 5,859,150 (GRCm39) M139K possibly damaging Het
Gm10192 C G 4: 97,071,345 (GRCm39) S20T probably null Het
Gm44501 T C 17: 40,887,515 (GRCm39) L11P unknown Het
Gm572 T C 4: 148,751,302 (GRCm39) probably null Het
Gnas A G 2: 174,139,882 (GRCm39) K17R possibly damaging Het
Grm2 T A 9: 106,527,865 (GRCm39) S340C probably damaging Het
Gsc T A 12: 104,438,274 (GRCm39) H198L probably damaging Het
H2-Q3 A T 17: 35,578,424 (GRCm39) noncoding transcript Het
H4c1 T C 13: 23,944,935 (GRCm39) D69G probably damaging Het
Hivep3 A G 4: 119,980,131 (GRCm39) E1723G probably damaging Het
Hk3 A T 13: 55,154,405 (GRCm39) L757Q probably damaging Het
Homer2 A T 7: 81,299,311 (GRCm39) D51E probably benign Het
Ier3ip1 T A 18: 77,027,227 (GRCm39) probably benign Het
Itch T A 2: 155,059,897 (GRCm39) probably null Het
Kalrn T A 16: 33,991,700 (GRCm39) Q974L probably damaging Het
Kirrel3 G T 9: 34,924,601 (GRCm39) G296W probably damaging Het
Klhl17 A G 4: 156,315,082 (GRCm39) V525A probably benign Het
Klhl9 T C 4: 88,640,182 (GRCm39) K20E probably benign Het
Kmt2a G T 9: 44,732,977 (GRCm39) probably benign Het
Krt17 C A 11: 100,147,305 (GRCm39) V409L probably benign Het
Lmx1b T C 2: 33,454,802 (GRCm39) N322S probably benign Het
Lrrc63 G C 14: 75,363,406 (GRCm39) P242A probably benign Het
Ltk T C 2: 119,583,708 (GRCm39) N256D probably damaging Het
Map3k19 T A 1: 127,745,470 (GRCm39) E1328V probably damaging Het
Map4k2 C T 19: 6,394,033 (GRCm39) A280V probably benign Het
Micall1 C T 15: 79,016,048 (GRCm39) R802* probably null Het
Mmp14 A G 14: 54,673,662 (GRCm39) R109G probably damaging Het
Mmp27 A T 9: 7,581,369 (GRCm39) H544L probably benign Het
Mpeg1 A G 19: 12,440,434 (GRCm39) T631A probably damaging Het
Mpnd A G 17: 56,318,641 (GRCm39) M217V probably benign Het
Mrc2 T C 11: 105,232,034 (GRCm39) V862A probably damaging Het
Mug2 T A 6: 122,058,154 (GRCm39) S1239T probably damaging Het
Myb T A 10: 21,002,137 (GRCm39) M616L probably benign Het
Myo18b A T 5: 113,022,346 (GRCm39) probably benign Het
Myo1c C A 11: 75,560,053 (GRCm39) T703N probably damaging Het
Myt1l T G 12: 29,936,138 (GRCm39) C909G unknown Het
Nbea T C 3: 55,912,776 (GRCm39) S1004G possibly damaging Het
Neb T C 2: 52,186,319 (GRCm39) N918D probably benign Het
Nrtn T C 17: 57,058,636 (GRCm39) T122A probably damaging Het
Nsd3 A T 8: 26,188,939 (GRCm39) S1042C probably damaging Het
Ntmt2 A T 1: 163,530,633 (GRCm39) C269S probably benign Het
Nvl A G 1: 180,945,191 (GRCm39) L461S probably damaging Het
Onecut2 A T 18: 64,473,998 (GRCm39) H183L possibly damaging Het
Or13p5 A C 4: 118,591,885 (GRCm39) H53P probably benign Het
Or2h2 G A 17: 37,396,343 (GRCm39) T238I probably damaging Het
Or4d10 C G 19: 12,051,679 (GRCm39) G106R probably damaging Het
Or52e4 A G 7: 104,705,689 (GRCm39) T79A possibly damaging Het
Or5c1 T G 2: 37,222,601 (GRCm39) F281V probably damaging Het
Or6c1b A C 10: 129,273,248 (GRCm39) D189A possibly damaging Het
Or6z5 A T 7: 6,477,612 (GRCm39) I168F probably damaging Het
Pcdhb21 G T 18: 37,648,130 (GRCm39) V420F possibly damaging Het
Pcdhb9 G A 18: 37,536,286 (GRCm39) G760D probably benign Het
Pglyrp2 G A 17: 32,637,771 (GRCm39) P86S probably benign Het
Phyhip T A 14: 70,704,765 (GRCm39) V328E probably damaging Het
Pitpnb A T 5: 111,530,862 (GRCm39) K218N possibly damaging Het
Pitrm1 A G 13: 6,628,596 (GRCm39) D963G probably damaging Het
Pmfbp1 A G 8: 110,258,792 (GRCm39) Y699C probably damaging Het
Pmpcb T A 5: 21,945,660 (GRCm39) probably benign Het
Polg A T 7: 79,114,353 (GRCm39) W203R probably damaging Het
Pramel22 A G 4: 143,380,971 (GRCm39) S351P probably benign Het
Prss41 A T 17: 24,055,977 (GRCm39) M252K probably benign Het
Prss46 A T 9: 110,673,618 (GRCm39) M1L possibly damaging Het
Rimklb T C 6: 122,441,051 (GRCm39) probably null Het
Rngtt T C 4: 33,500,335 (GRCm39) I556T unknown Het
Rock1 A C 18: 10,122,698 (GRCm39) D374E probably benign Het
Rspry1 C A 8: 95,385,417 (GRCm39) H450N probably benign Het
Rusc2 T C 4: 43,423,942 (GRCm39) V1032A probably damaging Het
Sacs A G 14: 61,449,647 (GRCm39) R3898G probably damaging Het
Scnn1b A T 7: 121,502,110 (GRCm39) H256L probably benign Het
Sh3gl2 T A 4: 85,297,494 (GRCm39) H157Q probably benign Het
Sipa1l1 C A 12: 82,389,107 (GRCm39) S444R probably damaging Het
Sntg1 T A 1: 8,433,818 (GRCm39) I478F probably damaging Het
Spata31e2 A G 1: 26,722,628 (GRCm39) Y851H probably benign Het
Sptb G T 12: 76,655,811 (GRCm39) L1424M probably benign Het
Sry T A Y: 2,663,105 (GRCm39) H185L unknown Het
Stox2 T G 8: 47,656,198 (GRCm39) T93P probably damaging Het
Tatdn2 T A 6: 113,681,566 (GRCm39) F472Y possibly damaging Het
Tefm A T 11: 80,031,185 (GRCm39) V17D possibly damaging Het
Tekt2 G T 4: 126,218,460 (GRCm39) T70N probably benign Het
Ticam1 T C 17: 56,578,642 (GRCm39) D151G probably damaging Het
Tmem63c A G 12: 87,136,139 (GRCm39) E785G probably damaging Het
Tnmd A T X: 132,765,551 (GRCm39) N219I probably benign Het
Ttc14 T A 3: 33,861,024 (GRCm39) L407* probably null Het
Ttll7 T C 3: 146,599,932 (GRCm39) M1T probably null Het
Ttn T A 2: 76,746,835 (GRCm39) probably null Het
Uchl1 T C 5: 66,833,780 (GRCm39) M12T probably benign Het
Uggt2 A T 14: 119,315,062 (GRCm39) probably null Het
Uggt2 T C 14: 119,286,665 (GRCm39) T224A probably damaging Het
Umodl1 A G 17: 31,218,175 (GRCm39) E1254G probably damaging Het
Unc5d A G 8: 29,156,927 (GRCm39) F773L probably benign Het
Unc80 C A 1: 66,683,606 (GRCm39) P2216Q probably damaging Het
Usp40 T A 1: 87,913,923 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,421 (GRCm39) M209K probably damaging Het
Vmn2r44 A T 7: 8,380,985 (GRCm39) W303R probably benign Het
Wnk2 G A 13: 49,224,478 (GRCm39) R268C probably damaging Het
Wnt2 T C 6: 18,023,125 (GRCm39) K175E possibly damaging Het
Xkr6 T C 14: 64,056,953 (GRCm39) V288A unknown Het
Zfp125 A G 12: 20,950,459 (GRCm39) noncoding transcript Het
Zfp512b A C 2: 181,228,856 (GRCm39) V703G probably damaging Het
Zglp1 A T 9: 20,973,957 (GRCm39) I243N probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign 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
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'- GGCATGTGTGACCCCAATATC -3'
(R):5'- CGCTTACCGAAATGTGTGCG -3'

Sequencing Primer
(F):5'- CCAATATCATGGGGAGGAAAGTG -3'
(R):5'- ACCGAAATGTGTGCGATTGC -3'
Posted On 2016-03-17