Incidental Mutation 'R1835:Cacna1a'
ID 205174
Institutional Source Beutler Lab
Gene Symbol Cacna1a
Ensembl Gene ENSMUSG00000034656
Gene Name calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Synonyms Cacnl1a4, Ccha1a, SCA6, alpha1A, smrl, nmf352
MMRRC Submission 039862-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R1835 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 85065268-85366875 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 85307986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000121390] [ENSMUST00000122053]
AlphaFold P97445
Predicted Effect probably null
Transcript: ENSMUST00000121390
SMART Domains Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656

DomainStartEndE-ValueType
low complexity region 9 47 N/A INTRINSIC
Pfam:Ion_trans 99 373 1.5e-69 PFAM
Pfam:Ion_trans 488 727 1.2e-54 PFAM
Pfam:PKD_channel 578 721 6.6e-8 PFAM
low complexity region 920 959 N/A INTRINSIC
low complexity region 977 987 N/A INTRINSIC
low complexity region 1074 1093 N/A INTRINSIC
low complexity region 1143 1168 N/A INTRINSIC
Pfam:Ion_trans 1194 1472 4.9e-64 PFAM
Pfam:Ion_trans 1516 1773 2.8e-64 PFAM
Pfam:GPHH 1775 1844 5.6e-39 PFAM
Ca_chan_IQ 1899 1933 1.8e-12 SMART
AT_hook 2053 2065 2.02e0 SMART
low complexity region 2101 2113 N/A INTRINSIC
low complexity region 2153 2179 N/A INTRINSIC
low complexity region 2213 2236 N/A INTRINSIC
low complexity region 2253 2282 N/A INTRINSIC
low complexity region 2314 2325 N/A INTRINSIC
low complexity region 2342 2357 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000122053
SMART Domains Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656

DomainStartEndE-ValueType
low complexity region 9 47 N/A INTRINSIC
Pfam:Ion_trans 91 314 4.5e-58 PFAM
PDB:4DEX|B 317 427 5e-45 PDB
Pfam:Ion_trans 476 668 6.4e-46 PFAM
Pfam:PKD_channel 530 675 7.7e-8 PFAM
low complexity region 873 912 N/A INTRINSIC
low complexity region 930 940 N/A INTRINSIC
low complexity region 1027 1046 N/A INTRINSIC
low complexity region 1096 1121 N/A INTRINSIC
Pfam:Ion_trans 1183 1414 2.8e-54 PFAM
Pfam:Ion_trans 1504 1714 3.2e-60 PFAM
Ca_chan_IQ 1852 1886 1.8e-12 SMART
AT_hook 2006 2018 2.02e0 SMART
low complexity region 2054 2066 N/A INTRINSIC
low complexity region 2106 2132 N/A INTRINSIC
low complexity region 2166 2189 N/A INTRINSIC
low complexity region 2206 2235 N/A INTRINSIC
low complexity region 2267 2278 N/A INTRINSIC
low complexity region 2295 2310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126302
Predicted Effect probably null
Transcript: ENSMUST00000215756
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,400,550 (GRCm39) Y530N probably damaging Het
Adam4 T C 12: 81,466,333 (GRCm39) I763V probably benign Het
Aipl1 T G 11: 71,921,325 (GRCm39) K190T possibly damaging Het
Alms1 T A 6: 85,655,485 (GRCm39) S3344T possibly damaging Het
Alpi A G 1: 87,027,136 (GRCm39) V381A possibly damaging Het
Ankfn1 A T 11: 89,338,444 (GRCm39) S365R probably benign Het
Aox1 G A 1: 58,348,150 (GRCm39) A623T probably benign Het
Apc T A 18: 34,450,130 (GRCm39) L2308Q probably damaging Het
Atp9b C T 18: 80,822,098 (GRCm39) V501I probably benign Het
Baz2b T C 2: 59,732,163 (GRCm39) E1994G probably benign Het
Bltp2 G T 11: 78,178,576 (GRCm39) V1993F probably damaging Het
Cacna1h C A 17: 25,611,050 (GRCm39) V583L probably benign Het
Cd55 T C 1: 130,375,346 (GRCm39) probably benign Het
Cep192 T A 18: 67,937,494 (GRCm39) S75T possibly damaging Het
Cfap54 T A 10: 92,798,237 (GRCm39) D1674V probably benign Het
Churc1 T C 12: 76,820,071 (GRCm39) F27L possibly damaging Het
Coro1c A G 5: 113,986,604 (GRCm39) I280T probably benign Het
Creb1 C T 1: 64,590,109 (GRCm39) Q32* probably null Het
Cyp2b9 A G 7: 25,900,208 (GRCm39) T339A probably benign Het
Dctn3 T C 4: 41,720,813 (GRCm39) R51G probably damaging Het
Ddb1 T C 19: 10,603,957 (GRCm39) V888A probably damaging Het
Disp1 A G 1: 182,870,564 (GRCm39) Y619H probably damaging Het
Dnajc9 T C 14: 20,438,402 (GRCm39) D96G possibly damaging Het
Eepd1 A G 9: 25,394,164 (GRCm39) T143A possibly damaging Het
Eps8 T A 6: 137,499,277 (GRCm39) K204* probably null Het
Ercc5 T A 1: 44,220,035 (GRCm39) S1102R probably benign Het
Ergic2 T A 6: 148,091,079 (GRCm39) Y211F possibly damaging Het
Fam135b G T 15: 71,362,560 (GRCm39) L274M probably damaging Het
Fat3 G A 9: 15,909,384 (GRCm39) T2206I probably damaging Het
Fat4 A G 3: 39,037,720 (GRCm39) I3791V probably benign Het
Gemin4 A G 11: 76,104,122 (GRCm39) M213T possibly damaging Het
Gnai3 T C 3: 108,025,723 (GRCm39) M119V probably benign Het
Heatr5b A T 17: 79,080,992 (GRCm39) L1420Q probably damaging Het
Herc2 G T 7: 55,856,513 (GRCm39) G3918* probably null Het
Ints9 A G 14: 65,269,705 (GRCm39) Y465C probably damaging Het
Ist1 A G 8: 110,405,515 (GRCm39) V175A probably damaging Het
Kcnj12 T C 11: 60,960,383 (GRCm39) L227P possibly damaging Het
Kcnq5 T C 1: 21,536,611 (GRCm39) S416G probably benign Het
Kdm3a T A 6: 71,590,940 (GRCm39) T295S probably benign Het
Kif1c T A 11: 70,599,797 (GRCm39) M479K probably damaging Het
Kif20b T C 19: 34,933,438 (GRCm39) L83P probably damaging Het
Kndc1 A G 7: 139,507,624 (GRCm39) E1194G probably damaging Het
Llgl1 A G 11: 60,595,556 (GRCm39) M81V probably benign Het
Map4k5 C A 12: 69,871,436 (GRCm39) M495I probably damaging Het
Mest C T 6: 30,742,790 (GRCm39) R146C probably benign Het
Mettl24 T A 10: 40,613,812 (GRCm39) probably null Het
Mical1 T C 10: 41,359,531 (GRCm39) S586P probably benign Het
Mrgpra3 G T 7: 47,239,694 (GRCm39) Y77* probably null Het
Mss51 A T 14: 20,533,246 (GRCm39) C408* probably null Het
Myh6 T C 14: 55,194,858 (GRCm39) T666A probably benign Het
Myo10 T C 15: 25,805,673 (GRCm39) C1685R possibly damaging Het
Naip5 A T 13: 100,359,726 (GRCm39) Y503* probably null Het
Neil1 A C 9: 57,053,888 (GRCm39) F144C probably damaging Het
Nipbl T A 15: 8,373,001 (GRCm39) I1082F possibly damaging Het
Nkiras1 T C 14: 18,276,732 (GRCm38) V7A probably damaging Het
Nt5el C A 13: 105,218,702 (GRCm39) A12E unknown Het
Ntng2 G A 2: 29,087,069 (GRCm39) Q384* probably null Het
Ocrl T A X: 47,050,993 (GRCm39) I74N probably damaging Het
Or10j27 A G 1: 172,958,382 (GRCm39) V134A probably benign Het
Or13a22 A G 7: 140,072,622 (GRCm39) S24G probably benign Het
Or14j8 C T 17: 38,263,276 (GRCm39) G213E possibly damaging Het
Or1e22 A C 11: 73,377,200 (GRCm39) V150G probably benign Het
Or2j3 A T 17: 38,616,203 (GRCm39) S50T probably benign Het
Or2y1 A T 11: 49,385,497 (GRCm39) I46F probably damaging Het
Patj A G 4: 98,379,827 (GRCm39) D151G probably benign Het
Plpbp T C 8: 27,539,259 (GRCm39) V126A probably damaging Het
Pold2 A G 11: 5,823,454 (GRCm39) L325P possibly damaging Het
Ppp1r12c A C 7: 4,486,650 (GRCm39) S480A probably damaging Het
Pum1 T C 4: 130,428,359 (GRCm39) S124P possibly damaging Het
Pwp2 C G 10: 78,014,925 (GRCm39) G353A probably damaging Het
Reln C A 5: 22,184,000 (GRCm39) Q1666H probably damaging Het
Rnf19a T C 15: 36,266,071 (GRCm39) I9V probably benign Het
Ryr2 T C 13: 11,784,764 (GRCm39) H1063R probably benign Het
Samd14 C G 11: 94,914,426 (GRCm39) D361E probably damaging Het
Samd15 A T 12: 87,248,617 (GRCm39) N365I probably damaging Het
Sec16b A G 1: 157,358,882 (GRCm39) H105R probably benign Het
Sez6 T C 11: 77,844,329 (GRCm39) S51P probably benign Het
Sh3bp1 T A 15: 78,789,350 (GRCm39) L236Q probably damaging Het
Sspo C T 6: 48,434,274 (GRCm39) T991I probably damaging Het
Suco A T 1: 161,687,069 (GRCm39) L97* probably null Het
Tab1 C A 15: 80,032,497 (GRCm39) R35S probably benign Het
Tet3 C A 6: 83,381,145 (GRCm39) S341I possibly damaging Het
Tlr1 A T 5: 65,083,043 (GRCm39) D511E probably benign Het
Tmem132b A C 5: 125,862,963 (GRCm39) D656A probably damaging Het
Tmtc4 T A 14: 123,179,400 (GRCm39) probably null Het
Trmo T C 4: 46,380,158 (GRCm39) T404A probably damaging Het
Trpm1 A G 7: 63,880,016 (GRCm39) K790E probably damaging Het
Ulk4 C A 9: 120,997,250 (GRCm39) R774M probably null Het
Ush2a C T 1: 188,184,015 (GRCm39) L1440F probably benign Het
Usp16 A G 16: 87,277,795 (GRCm39) K682E probably damaging Het
Virma T C 4: 11,540,511 (GRCm39) S1471P probably benign Het
Vmn1r177 A T 7: 23,565,111 (GRCm39) I255N probably damaging Het
Vmn2r61 A T 7: 41,916,076 (GRCm39) R230* probably null Het
Vps13c T A 9: 67,900,295 (GRCm39) F3671L probably benign Het
Washc5 T C 15: 59,231,189 (GRCm39) N358S possibly damaging Het
Wdr72 A G 9: 74,058,899 (GRCm39) K331E probably damaging Het
Zfp986 A T 4: 145,625,805 (GRCm39) K155I probably benign Het
Other mutations in Cacna1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Cacna1a APN 8 85,297,837 (GRCm39) nonsense probably null
IGL00513:Cacna1a APN 8 85,279,685 (GRCm39) missense probably damaging 1.00
IGL00569:Cacna1a APN 8 85,189,343 (GRCm39) missense probably damaging 1.00
IGL00981:Cacna1a APN 8 85,275,182 (GRCm39) missense probably damaging 1.00
IGL01122:Cacna1a APN 8 85,341,422 (GRCm39) critical splice donor site probably null
IGL01309:Cacna1a APN 8 85,249,657 (GRCm39) missense probably damaging 1.00
IGL01380:Cacna1a APN 8 85,285,746 (GRCm39) missense probably damaging 1.00
IGL01638:Cacna1a APN 8 85,298,456 (GRCm39) missense probably damaging 0.98
IGL01682:Cacna1a APN 8 85,263,067 (GRCm39) missense possibly damaging 0.71
IGL02751:Cacna1a APN 8 85,296,581 (GRCm39) missense probably damaging 1.00
IGL02904:Cacna1a APN 8 85,306,149 (GRCm39) missense probably damaging 1.00
IGL03122:Cacna1a APN 8 85,189,305 (GRCm39) splice site probably benign
totter UTSW 8 85,315,382 (GRCm39) missense probably damaging 0.99
totter2 UTSW 8 85,315,382 (GRCm39) missense probably damaging 0.99
FR4340:Cacna1a UTSW 8 85,365,352 (GRCm39) small insertion probably benign
FR4449:Cacna1a UTSW 8 85,365,352 (GRCm39) small insertion probably benign
FR4449:Cacna1a UTSW 8 85,365,349 (GRCm39) small insertion probably benign
FR4449:Cacna1a UTSW 8 85,365,343 (GRCm39) small insertion probably benign
FR4548:Cacna1a UTSW 8 85,365,346 (GRCm39) small insertion probably benign
FR4737:Cacna1a UTSW 8 85,365,355 (GRCm39) small insertion probably benign
FR4737:Cacna1a UTSW 8 85,365,349 (GRCm39) small insertion probably benign
FR4976:Cacna1a UTSW 8 85,365,355 (GRCm39) small insertion probably benign
FR4976:Cacna1a UTSW 8 85,365,346 (GRCm39) small insertion probably benign
IGL03134:Cacna1a UTSW 8 85,285,716 (GRCm39) missense probably damaging 1.00
R0055:Cacna1a UTSW 8 85,306,687 (GRCm39) splice site probably benign
R0118:Cacna1a UTSW 8 85,262,712 (GRCm39) missense probably damaging 1.00
R0284:Cacna1a UTSW 8 85,338,914 (GRCm39) missense probably damaging 1.00
R0581:Cacna1a UTSW 8 85,328,565 (GRCm39) missense possibly damaging 0.83
R0607:Cacna1a UTSW 8 85,356,460 (GRCm39) missense probably damaging 1.00
R1168:Cacna1a UTSW 8 85,306,130 (GRCm39) missense probably damaging 1.00
R1183:Cacna1a UTSW 8 85,306,846 (GRCm39) missense probably damaging 1.00
R1470:Cacna1a UTSW 8 85,241,579 (GRCm39) splice site probably benign
R1503:Cacna1a UTSW 8 85,328,575 (GRCm39) missense probably benign 0.23
R1522:Cacna1a UTSW 8 85,360,062 (GRCm39) missense probably benign 0.00
R1862:Cacna1a UTSW 8 85,142,559 (GRCm39) missense possibly damaging 0.80
R2148:Cacna1a UTSW 8 85,356,304 (GRCm39) missense possibly damaging 0.71
R2237:Cacna1a UTSW 8 85,360,394 (GRCm39) critical splice donor site probably null
R2567:Cacna1a UTSW 8 85,276,354 (GRCm39) missense probably damaging 1.00
R2999:Cacna1a UTSW 8 85,294,371 (GRCm39) missense probably damaging 1.00
R3025:Cacna1a UTSW 8 85,306,854 (GRCm39) critical splice donor site probably null
R3610:Cacna1a UTSW 8 85,285,694 (GRCm39) missense probably damaging 1.00
R3702:Cacna1a UTSW 8 85,344,475 (GRCm39) missense probably damaging 0.98
R3763:Cacna1a UTSW 8 85,310,271 (GRCm39) missense possibly damaging 0.85
R4025:Cacna1a UTSW 8 85,307,962 (GRCm39) missense probably damaging 1.00
R4026:Cacna1a UTSW 8 85,307,962 (GRCm39) missense probably damaging 1.00
R4106:Cacna1a UTSW 8 85,310,324 (GRCm39) missense possibly damaging 0.85
R4296:Cacna1a UTSW 8 85,285,922 (GRCm39) missense probably damaging 1.00
R4664:Cacna1a UTSW 8 85,328,396 (GRCm39) nonsense probably null
R4713:Cacna1a UTSW 8 85,276,143 (GRCm39) missense probably damaging 1.00
R5223:Cacna1a UTSW 8 85,313,824 (GRCm39) missense possibly damaging 0.94
R5408:Cacna1a UTSW 8 85,276,336 (GRCm39) missense probably damaging 1.00
R5644:Cacna1a UTSW 8 85,189,406 (GRCm39) missense probably damaging 1.00
R5734:Cacna1a UTSW 8 85,310,360 (GRCm39) missense probably damaging 0.96
R5786:Cacna1a UTSW 8 85,142,350 (GRCm39) unclassified probably benign
R5833:Cacna1a UTSW 8 85,245,326 (GRCm39) missense probably damaging 1.00
R5886:Cacna1a UTSW 8 85,249,651 (GRCm39) missense probably damaging 0.99
R6049:Cacna1a UTSW 8 85,365,475 (GRCm39) missense probably damaging 0.96
R6054:Cacna1a UTSW 8 85,283,414 (GRCm39) missense probably damaging 0.99
R6117:Cacna1a UTSW 8 85,341,350 (GRCm39) missense probably damaging 1.00
R6149:Cacna1a UTSW 8 85,296,581 (GRCm39) missense probably damaging 1.00
R6195:Cacna1a UTSW 8 85,315,382 (GRCm39) missense probably damaging 0.99
R6233:Cacna1a UTSW 8 85,315,382 (GRCm39) missense probably damaging 0.99
R6607:Cacna1a UTSW 8 85,306,121 (GRCm39) missense probably damaging 1.00
R6753:Cacna1a UTSW 8 85,306,834 (GRCm39) missense probably damaging 1.00
R6798:Cacna1a UTSW 8 85,338,231 (GRCm39) missense probably damaging 1.00
R6831:Cacna1a UTSW 8 85,297,860 (GRCm39) missense probably damaging 1.00
R6980:Cacna1a UTSW 8 85,338,914 (GRCm39) missense possibly damaging 0.85
R7051:Cacna1a UTSW 8 85,356,544 (GRCm39) missense possibly damaging 0.85
R7270:Cacna1a UTSW 8 85,297,866 (GRCm39) missense probably damaging 1.00
R7409:Cacna1a UTSW 8 85,260,031 (GRCm39) missense probably damaging 1.00
R7491:Cacna1a UTSW 8 85,285,922 (GRCm39) missense possibly damaging 0.92
R7511:Cacna1a UTSW 8 85,294,311 (GRCm39) missense possibly damaging 0.75
R7745:Cacna1a UTSW 8 85,286,023 (GRCm39) missense probably benign 0.01
R7872:Cacna1a UTSW 8 85,310,283 (GRCm39) missense probably damaging 1.00
R7899:Cacna1a UTSW 8 85,320,802 (GRCm39) missense possibly damaging 0.72
R7986:Cacna1a UTSW 8 85,365,408 (GRCm39) missense probably benign 0.02
R8126:Cacna1a UTSW 8 85,359,881 (GRCm39) missense probably benign 0.02
R8266:Cacna1a UTSW 8 85,285,848 (GRCm39) missense probably damaging 1.00
R8458:Cacna1a UTSW 8 85,276,087 (GRCm39) missense probably damaging 1.00
R8504:Cacna1a UTSW 8 85,365,370 (GRCm39) missense probably benign
R8530:Cacna1a UTSW 8 85,339,043 (GRCm39) critical splice donor site probably null
R8750:Cacna1a UTSW 8 85,285,784 (GRCm39) missense probably damaging 0.99
R8817:Cacna1a UTSW 8 85,365,426 (GRCm39) missense probably benign 0.44
R8856:Cacna1a UTSW 8 85,286,070 (GRCm39) missense probably benign 0.30
R8893:Cacna1a UTSW 8 85,313,764 (GRCm39) missense probably benign 0.00
R9083:Cacna1a UTSW 8 85,344,511 (GRCm39) missense probably benign 0.30
R9087:Cacna1a UTSW 8 85,365,432 (GRCm39) missense probably benign 0.44
R9118:Cacna1a UTSW 8 85,262,715 (GRCm39) missense probably damaging 1.00
R9133:Cacna1a UTSW 8 85,276,152 (GRCm39) missense probably damaging 1.00
R9175:Cacna1a UTSW 8 85,296,644 (GRCm39) missense probably damaging 0.99
R9233:Cacna1a UTSW 8 85,271,283 (GRCm39) missense probably damaging 1.00
R9310:Cacna1a UTSW 8 85,263,046 (GRCm39) missense probably damaging 1.00
R9331:Cacna1a UTSW 8 85,142,446 (GRCm39) missense probably damaging 1.00
R9334:Cacna1a UTSW 8 85,296,594 (GRCm39) missense probably damaging 1.00
R9531:Cacna1a UTSW 8 85,320,801 (GRCm39) missense probably benign 0.02
R9532:Cacna1a UTSW 8 85,338,246 (GRCm39) missense probably damaging 1.00
R9590:Cacna1a UTSW 8 85,328,610 (GRCm39) nonsense probably null
R9710:Cacna1a UTSW 8 85,320,808 (GRCm39) missense possibly damaging 0.74
RF029:Cacna1a UTSW 8 85,365,353 (GRCm39) small insertion probably benign
X0022:Cacna1a UTSW 8 85,360,328 (GRCm39) missense possibly damaging 0.53
Z1176:Cacna1a UTSW 8 85,142,305 (GRCm39) missense unknown
Z1177:Cacna1a UTSW 8 85,306,120 (GRCm39) missense probably damaging 1.00
Z1188:Cacna1a UTSW 8 85,241,683 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACACTCAAGCCAGGGTCTC -3'
(R):5'- AAGTCTGTGTTCACATTTGTGC -3'

Sequencing Primer
(F):5'- AGCACACGTGGCCTTAGG -3'
(R):5'- GGACCTGAGCTTCCCAACAG -3'
Posted On 2014-06-23