Incidental Mutation 'R9331:Cacna1c'
ID 706840
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R9331 (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 119084909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 10 (V10I)
Ref Sequence ENSEMBL: ENSMUSP00000108413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075591] [ENSMUST00000078320] [ENSMUST00000112790] [ENSMUST00000112793] [ENSMUST00000185345] [ENSMUST00000186889] [ENSMUST00000187317] [ENSMUST00000187474] [ENSMUST00000187940] [ENSMUST00000188078] [ENSMUST00000188106] [ENSMUST00000188522] [ENSMUST00000188865] [ENSMUST00000189389] [ENSMUST00000189520] [ENSMUST00000190285]
AlphaFold Q01815
Predicted Effect probably benign
Transcript: ENSMUST00000075591
AA Change: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: V10I

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: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: V10I

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: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: V10I

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: V10I

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: ENSMUST00000185345
AA Change: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: V10I

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
SMART Domains Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331

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: ENSMUST00000187317
AA Change: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: V10I

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 benign
Transcript: ENSMUST00000187474
SMART Domains Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331

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: ENSMUST00000187940
SMART Domains Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331

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: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: V10I

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: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: V10I

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: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: V10I

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: ENSMUST00000188865
AA Change: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: V10I

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: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: V10I

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: V10I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: V10I

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: ENSMUST00000190285
SMART Domains Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,616,324 (GRCm39) E922G probably benign Het
Abca8a A G 11: 109,917,154 (GRCm39) L1615P probably damaging Het
Actrt3 T C 3: 30,652,050 (GRCm39) D348G probably damaging Het
Adam3 A G 8: 25,177,951 (GRCm39) M654T probably benign Het
Adamts8 A T 9: 30,862,770 (GRCm39) H325L probably damaging Het
Agpat2 A G 2: 26,487,318 (GRCm39) Y72H probably benign Het
Ap3m1 A G 14: 21,095,666 (GRCm39) Y55H possibly damaging Het
Cacna1a C T 8: 85,142,446 (GRCm39) A58V probably damaging Het
Ccnt1 T A 15: 98,441,097 (GRCm39) K724* probably null Het
Cd72 T A 4: 43,454,320 (GRCm39) T38S possibly damaging Het
Crispld1 T A 1: 17,832,454 (GRCm39) I480K probably damaging Het
Diaph3 G T 14: 87,378,461 (GRCm39) Y30* probably null Het
Ei24 A G 9: 36,701,217 (GRCm39) I34T possibly damaging Het
Fdxacb1 G A 9: 50,681,511 (GRCm39) S144N probably damaging Het
Fgf21 G T 7: 45,263,614 (GRCm39) Q155K probably benign Het
Gdap1l1 A T 2: 163,295,664 (GRCm39) R310S probably benign Het
Gm44501 G A 17: 40,889,620 (GRCm39) V45I probably benign Het
Gne A G 4: 44,066,845 (GRCm39) L56P probably damaging Het
Hcn4 T C 9: 58,767,705 (GRCm39) S1089P probably damaging Het
Hexim1 C T 11: 103,007,974 (GRCm39) T76M probably damaging Het
Hkdc1 A T 10: 62,236,114 (GRCm39) L476* probably null Het
Hoxd8 CGCGGCGGCGGCGGCGGC CGCGGCGGCGGCGGC 2: 74,535,942 (GRCm39) probably benign Het
Hyal4 A T 6: 24,765,866 (GRCm39) I407L probably damaging Het
Ighv5-9-1 T C 12: 113,699,878 (GRCm39) Y78C possibly damaging Het
Kif20a T A 18: 34,762,562 (GRCm39) C478* probably null Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Ltbp2 C T 12: 84,922,965 (GRCm39) R34Q probably benign Het
Mccc1 A G 3: 36,014,238 (GRCm39) V693A probably damaging Het
Muc5b C A 7: 141,411,475 (GRCm39) Q1474K unknown Het
Nos1 T C 5: 118,038,589 (GRCm39) V474A possibly damaging Het
Nprl2 G A 9: 107,421,955 (GRCm39) V244M probably damaging Het
Npy2r A G 3: 82,448,068 (GRCm39) S236P probably damaging Het
Or8b9 G A 9: 37,766,710 (GRCm39) V199I probably benign Het
Or8c10 A G 9: 38,279,003 (GRCm39) S44G probably benign Het
P2rx7 T C 5: 122,818,961 (GRCm39) L461P probably benign Het
Pacc1 T C 1: 191,077,318 (GRCm39) probably null Het
Pde12 T C 14: 26,389,828 (GRCm39) I294V probably benign Het
Plcl1 T C 1: 55,736,030 (GRCm39) L457P possibly damaging Het
Plekho2 C A 9: 65,463,866 (GRCm39) A328S probably benign Het
Polg T C 7: 79,108,148 (GRCm39) K556E probably damaging Het
Prl7a2 A G 13: 27,849,062 (GRCm39) S76P probably damaging Het
Ptar1 T A 19: 23,671,707 (GRCm39) C37S probably benign Het
Pwwp2b G A 7: 138,835,357 (GRCm39) G266D probably damaging Het
Pygm T C 19: 6,448,129 (GRCm39) F812L probably damaging Het
Smarcc2 A T 10: 128,323,310 (GRCm39) T982S unknown Het
Spata31e2 T C 1: 26,722,790 (GRCm39) R797G probably benign Het
Syne1 C G 10: 5,073,666 (GRCm39) V1226L probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmub1 T C 5: 24,650,985 (GRCm39) T225A probably damaging Het
Trmo A C 4: 46,387,642 (GRCm39) C59W possibly damaging Het
Ttc6 C A 12: 57,720,509 (GRCm39) A925D probably damaging Het
Tubb1 A G 2: 174,297,472 (GRCm39) E27G probably damaging Het
Unkl G A 17: 25,450,723 (GRCm39) C503Y probably damaging Het
Usp40 A G 1: 87,901,828 (GRCm39) I785T probably damaging Het
Vmn2r32 G A 7: 7,467,402 (GRCm39) Q709* probably null Het
Xaf1 T C 11: 72,197,470 (GRCm39) S149P probably damaging Het
Ythdc2 T A 18: 44,970,499 (GRCm39) V271E possibly damaging Het
Zfp386 C T 12: 116,011,433 (GRCm39) probably benign Het
Zfp456 T A 13: 67,514,389 (GRCm39) E439V 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
R1517:Cacna1c UTSW 6 118,575,720 (GRCm39) missense probably benign 0.01
R1619:Cacna1c UTSW 6 118,589,586 (GRCm39) missense probably damaging 1.00
R1704:Cacna1c UTSW 6 118,579,107 (GRCm39) missense probably benign 0.01
R1739:Cacna1c UTSW 6 118,587,505 (GRCm39) missense probably damaging 0.99
R1804:Cacna1c UTSW 6 118,664,007 (GRCm39) missense probably damaging 1.00
R1889:Cacna1c UTSW 6 118,589,586 (GRCm39) missense probably damaging 1.00
R1891:Cacna1c UTSW 6 118,753,480 (GRCm39) missense probably damaging 1.00
R1895:Cacna1c UTSW 6 118,589,586 (GRCm39) missense probably damaging 1.00
R1944:Cacna1c UTSW 6 118,583,227 (GRCm39) missense probably damaging 1.00
R1961:Cacna1c UTSW 6 118,607,283 (GRCm39) missense probably benign 0.05
R2043:Cacna1c UTSW 6 118,573,049 (GRCm39) missense probably benign 0.01
R2045:Cacna1c UTSW 6 118,633,098 (GRCm39) missense probably damaging 1.00
R2217:Cacna1c UTSW 6 118,647,368 (GRCm39) missense probably damaging 1.00
R2237:Cacna1c UTSW 6 118,629,704 (GRCm39) missense possibly damaging 0.94
R2509:Cacna1c UTSW 6 118,711,943 (GRCm39) missense probably damaging 1.00
R3157:Cacna1c UTSW 6 118,728,485 (GRCm39) missense probably benign 0.00
R3739:Cacna1c UTSW 6 118,718,913 (GRCm39) missense probably benign
R3831:Cacna1c UTSW 6 118,581,424 (GRCm39) missense probably benign 0.06
R4319:Cacna1c UTSW 6 118,631,330 (GRCm39) missense probably damaging 1.00
R4477:Cacna1c UTSW 6 118,607,200 (GRCm39) missense possibly damaging 0.48
R4571:Cacna1c UTSW 6 118,607,341 (GRCm39) missense probably benign
R4671:Cacna1c UTSW 6 118,629,019 (GRCm39) missense probably damaging 1.00
R4729:Cacna1c UTSW 6 118,633,136 (GRCm39) missense probably damaging 1.00
R4741:Cacna1c UTSW 6 118,590,271 (GRCm39) missense probably damaging 1.00
R4798:Cacna1c UTSW 6 118,607,263 (GRCm39) nonsense probably null
R4803:Cacna1c UTSW 6 118,728,502 (GRCm39) missense probably damaging 0.99
R4821:Cacna1c UTSW 6 118,673,386 (GRCm39) missense probably damaging 1.00
R4888:Cacna1c UTSW 6 118,728,400 (GRCm39) missense probably damaging 1.00
R4981:Cacna1c UTSW 6 118,728,432 (GRCm39) missense probably benign 0.00
R5253:Cacna1c UTSW 6 118,574,930 (GRCm39) missense probably benign 0.01
R5297:Cacna1c UTSW 6 118,719,322 (GRCm39) missense probably damaging 1.00
R5345:Cacna1c UTSW 6 118,633,497 (GRCm39) critical splice donor site probably null
R5364:Cacna1c UTSW 6 118,633,504 (GRCm39) missense probably benign 0.35
R5439:Cacna1c UTSW 6 118,631,333 (GRCm39) missense probably damaging 1.00
R5472:Cacna1c UTSW 6 118,615,407 (GRCm39) missense possibly damaging 0.86
R5516:Cacna1c UTSW 6 119,034,179 (GRCm39) missense probably damaging 1.00
R5590:Cacna1c UTSW 6 118,664,143 (GRCm39) missense probably damaging 1.00
R5619:Cacna1c UTSW 6 118,719,322 (GRCm39) missense probably damaging 1.00
R5684:Cacna1c UTSW 6 118,664,005 (GRCm39) missense probably damaging 1.00
R5737:Cacna1c UTSW 6 118,718,893 (GRCm39) missense probably damaging 1.00
R5768:Cacna1c UTSW 6 118,674,641 (GRCm39) missense probably damaging 1.00
R5933:Cacna1c UTSW 6 118,589,541 (GRCm39) missense probably damaging 1.00
R5965:Cacna1c UTSW 6 118,579,261 (GRCm39) missense probably damaging 1.00
R6114:Cacna1c UTSW 6 118,573,101 (GRCm39) missense probably benign 0.07
R6161:Cacna1c UTSW 6 119,034,263 (GRCm39) missense probably damaging 1.00
R6267:Cacna1c UTSW 6 118,629,675 (GRCm39) missense probably benign 0.09
R6267:Cacna1c UTSW 6 118,575,684 (GRCm39) missense possibly damaging 0.52
R6296:Cacna1c UTSW 6 118,629,675 (GRCm39) missense probably benign 0.09
R6296:Cacna1c UTSW 6 118,575,684 (GRCm39) missense possibly damaging 0.52
R6307:Cacna1c UTSW 6 118,590,914 (GRCm39) missense probably damaging 0.97
R6431:Cacna1c UTSW 6 118,728,334 (GRCm39) missense probably damaging 1.00
R6467:Cacna1c UTSW 6 118,629,671 (GRCm39) missense probably damaging 1.00
R7026:Cacna1c UTSW 6 118,614,732 (GRCm39) missense probably damaging 1.00
R7049:Cacna1c UTSW 6 118,578,124 (GRCm39) missense probably benign 0.35
R7072:Cacna1c UTSW 6 118,573,067 (GRCm39) missense
R7192:Cacna1c UTSW 6 118,633,210 (GRCm39) missense
R7243:Cacna1c UTSW 6 118,614,690 (GRCm39) critical splice donor site probably null
R7250:Cacna1c UTSW 6 118,673,412 (GRCm39) missense
R7250:Cacna1c UTSW 6 118,574,966 (GRCm39) missense
R7264:Cacna1c UTSW 6 118,579,156 (GRCm39) missense
R7312:Cacna1c UTSW 6 119,034,172 (GRCm39) missense
R7392:Cacna1c UTSW 6 118,718,881 (GRCm39) missense
R7401:Cacna1c UTSW 6 119,029,669 (GRCm39) critical splice acceptor site probably null
R7449:Cacna1c UTSW 6 118,579,310 (GRCm39) missense
R7451:Cacna1c UTSW 6 118,570,981 (GRCm39) missense unknown
R7491:Cacna1c UTSW 6 118,590,304 (GRCm39) missense
R7507:Cacna1c UTSW 6 119,034,200 (GRCm39) missense
R7573:Cacna1c UTSW 6 118,581,406 (GRCm39) missense
R7702:Cacna1c UTSW 6 118,575,727 (GRCm39) missense
R7745:Cacna1c UTSW 6 119,029,587 (GRCm39) missense
R7834:Cacna1c UTSW 6 118,587,542 (GRCm39) missense
R7867:Cacna1c UTSW 6 118,753,407 (GRCm39) missense
R8199:Cacna1c UTSW 6 118,651,545 (GRCm39) missense probably benign
R8252:Cacna1c UTSW 6 118,634,335 (GRCm39) missense
R8300:Cacna1c UTSW 6 118,575,717 (GRCm39) missense
R8319:Cacna1c UTSW 6 118,614,735 (GRCm39) missense
R8331:Cacna1c UTSW 6 118,607,290 (GRCm39) missense
R8446:Cacna1c UTSW 6 118,604,411 (GRCm39) missense
R8708:Cacna1c UTSW 6 118,604,416 (GRCm39) missense
R8717:Cacna1c UTSW 6 119,034,314 (GRCm39) missense
R8765:Cacna1c UTSW 6 118,580,844 (GRCm39) missense
R8772:Cacna1c UTSW 6 118,579,283 (GRCm39) missense
R8826:Cacna1c UTSW 6 118,711,836 (GRCm39) missense
R8859:Cacna1c UTSW 6 118,653,280 (GRCm39) missense
R8951:Cacna1c UTSW 6 118,590,300 (GRCm39) missense probably damaging 1.00
R8963:Cacna1c UTSW 6 118,719,232 (GRCm39) nonsense probably null
R9013:Cacna1c UTSW 6 118,719,266 (GRCm39) missense probably damaging 1.00
R9032:Cacna1c UTSW 6 118,615,466 (GRCm39) nonsense probably null
R9034:Cacna1c UTSW 6 118,728,359 (GRCm39) missense
R9085:Cacna1c UTSW 6 118,615,466 (GRCm39) nonsense probably null
R9130:Cacna1c UTSW 6 118,590,907 (GRCm39) missense
R9197:Cacna1c UTSW 6 118,590,950 (GRCm39) missense
R9249:Cacna1c UTSW 6 118,590,288 (GRCm39) missense
R9276:Cacna1c UTSW 6 118,601,394 (GRCm39) missense
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'- GCTCGGGATTTCATGGGAAC -3'
(R):5'- ATGGGGATCAGGTAATCACCCG -3'

Sequencing Primer
(F):5'- ATGCTCCGAAGAAGCCCG -3'
(R):5'- CGAAGGGAGCAAGAACCACTG -3'
Posted On 2022-04-18