Incidental Mutation 'FR4737:Cacna1a'
ID 511669
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # FR4737 ()
Quality Score 214.458
Status Not validated
Chromosome 8
Chromosomal Location 85065268-85366875 bp(+) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) ACC to ACCCCC at 85365355 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000121390] [ENSMUST00000122053]
AlphaFold P97445
Predicted Effect probably benign
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 benign
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: ENSMUST00000130507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144879
Predicted Effect probably benign
Transcript: ENSMUST00000215756
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.8%
  • 20x: 97.0%
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: 210 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik TCT TCTCCT 12: 110,634,882 (GRCm39) probably benign Het
A630001G21Rik CTGTT CT 1: 85,650,856 (GRCm39) probably benign Homo
Abcb11 C A 2: 69,073,862 (GRCm39) R1221L probably damaging Homo
Abcb4 GAAA G 5: 8,946,597 (GRCm39) probably benign Homo
Ahdc1 CT CTCGT 4: 132,790,070 (GRCm39) probably benign Homo
Alpk3 TCT TCTACT 7: 80,727,510 (GRCm39) probably benign Het
Amfr C G 8: 94,731,787 (GRCm39) G30R probably damaging Homo
Ankrd35 GC GCTAC 3: 96,591,165 (GRCm39) probably benign Homo
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Homo
Apc CAATAAAGC CAATAAAGCTAATAAAGC 18: 34,415,052 (GRCm39) probably benign Homo
Apol6 GTTT GTTTCTTT 15: 76,935,642 (GRCm39) probably null Homo
Arpc1b GGTGGC GGTGGCGTGGC 5: 145,063,597 (GRCm39) probably null Het
AY358078 C T 14: 52,043,155 (GRCm39) S281L unknown Homo
Blm ACCTGC ACCTGCCTGC 7: 80,113,519 (GRCm39) probably null Het
Blm T TACCA 7: 80,113,522 (GRCm39) probably null Het
Bltp1 TTATTAT TTATTATTATTATTACTATTAT 3: 37,104,903 (GRCm39) probably benign Het
Blzf1 TTGT TT 1: 164,131,486 (GRCm39) probably null Homo
Btnl10 A AAGG 11: 58,814,757 (GRCm39) probably benign Homo
Catsper2 TTC TTCTTTTACTTTGTC 2: 121,228,021 (GRCm39) probably benign Homo
Ccdc170 ACC ACCTCC 10: 4,511,023 (GRCm39) probably benign Het
Ccdc170 AC ACCCC 10: 4,511,029 (GRCm39) probably benign Het
Ccdc73 TAAG T 2: 104,822,185 (GRCm39) probably benign Homo
Ccnk TTCCCAC T 12: 108,168,766 (GRCm39) probably benign Het
Cdan1 A C 2: 120,555,452 (GRCm39) V763G probably damaging Het
Cdk6 A G 5: 3,394,211 (GRCm39) probably benign Het
Cdx1 TGCTGC TGCTGCCGCTGC 18: 61,152,946 (GRCm39) probably benign Het
Cdx1 GCTGCT GCTGCTTCTGCT 18: 61,152,950 (GRCm39) probably benign Het
Cfap46 CCTTCT CCTTCTTCT 7: 139,218,846 (GRCm39) probably benign Homo
Chd4 GC GCTCCCCC 6: 125,099,094 (GRCm39) probably benign Homo
Cluh CCCCGAGCC CCCCGAGCCCGAGCC 11: 74,560,340 (GRCm39) probably benign Het
Cluh CC CCTGAGGC 11: 74,560,359 (GRCm39) probably benign Het
Cluh GAGCCT GAGCCTAAGCCT 11: 74,560,350 (GRCm39) probably benign Het
Cluh AGCCTG AGCCTGCGCCTG 11: 74,560,345 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,395 (GRCm39) probably benign Het
Cntnap1 CCCAGC CCCAGCGCCAGC 11: 101,080,416 (GRCm39) probably benign Het
Cntnap1 GCCCCA GCCCCACCCCCA 11: 101,080,408 (GRCm39) probably benign Het
Cntnap1 GCCCCA GCCCCAACCCCA 11: 101,080,402 (GRCm39) probably benign Het
Cracdl T A 1: 37,664,116 (GRCm39) E594V probably benign Homo
Cracdl C A 1: 37,664,117 (GRCm39) E594* probably null Homo
Cul9 CTC CTCTTC 17: 46,811,784 (GRCm39) probably benign Het
Cul9 CTCTTC CTCTTCTTC 17: 46,811,772 (GRCm39) probably benign Het
Cyth2 C A 7: 45,462,466 (GRCm39) S102I possibly damaging Het
Dbr1 AGGAGG AGGAGGCGGAGG 9: 99,465,739 (GRCm39) probably benign Het
Dbr1 GGAGG GGAGGACGAGG 9: 99,465,752 (GRCm39) probably benign Het
Dennd2b CACCACACTGGGGCAGCCCACACTGGGGCAG CCCCACACTGGGGCAG 7: 109,156,128 (GRCm39) probably benign Het
Dhx8 GACCGA GACCGATACCGA 11: 101,629,005 (GRCm39) probably benign Homo
Dhx8 GAGACC GAGACCCAGACC 11: 101,629,015 (GRCm39) probably benign Homo
Dhx8 CGAGAC CGAGACGGAGAC 11: 101,629,008 (GRCm39) probably benign Homo
Dnaaf9 CC CCTGC 2: 130,612,672 (GRCm39) probably benign Het
Dnah8 CCTCCCG C 17: 30,854,451 (GRCm39) probably benign Homo
Dnah8 ACTGCCCCT ACT 17: 30,854,439 (GRCm39) probably benign Het
Dnajb5 AGGTG A 4: 42,957,126 (GRCm39) probably null Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Homo
E4f1 CCG CCGACG 17: 24,674,166 (GRCm39) probably benign Homo
Eif3a TTA TTATTATA 19: 60,763,727 (GRCm39) probably benign Het
Fam81b TTC TTCGTC 13: 76,419,438 (GRCm39) probably benign Het
Fbxo22 G A 9: 55,116,666 (GRCm39) R56H probably damaging Het
Fcgr1 CTTCT C 3: 96,191,820 (GRCm39) probably null Het
Fcgr1 T C 3: 96,194,410 (GRCm39) D159G probably benign Homo
Fmn1 CC CCTCCTTC 2: 113,356,129 (GRCm39) probably benign Het
Fmn1 CCTCCT CCTCCTACTCCT 2: 113,356,123 (GRCm39) probably benign Het
Fmn1 CC CCCCCTGC 2: 113,356,126 (GRCm39) probably benign Het
G530012D18Rik GA GACAGAGATA 1: 85,504,899 (GRCm39) probably null Het
Gli3 G A 13: 15,818,942 (GRCm39) R248H probably damaging Het
Gm16503 G A 4: 147,625,710 (GRCm39) G68E unknown Het
Gm19345 GGATGGCAGGTG GG 7: 19,591,527 (GRCm39) probably null Het
Gm4340 AGC AGCTGC 10: 104,031,958 (GRCm39) probably benign Het
Gm4340 AG AGCGG 10: 104,031,961 (GRCm39) probably benign Het
Gm4340 GCA GCAACA 10: 104,031,938 (GRCm39) probably benign Het
Gm6309 C T 5: 146,104,993 (GRCm39) V307I probably benign Het
Gpatch11 AAGAGG AAGAGGCAGAGG 17: 79,149,600 (GRCm39) probably benign Het
Gpatch11 AGGAA AGGAAGCGGAA 17: 79,149,609 (GRCm39) probably benign Het
Hoxa10 T A 6: 52,211,166 (GRCm39) Q250L possibly damaging Homo
Hrh1 T C 6: 114,458,084 (GRCm39) I455T possibly damaging Het
Hspa1b GCGCC GC 17: 35,176,105 (GRCm39) probably benign Homo
Iba57 GAAA GAAAAA 11: 59,052,331 (GRCm39) probably null Homo
Igf1r TGGAGC TGGAGCTGGAGAGGGAGC 7: 67,875,929 (GRCm39) probably benign Het
Il17rd CGG CGGAGG 14: 26,804,637 (GRCm39) probably benign Het
Il2 TGG TGGGGCTTGAAGCGG 3: 37,179,977 (GRCm39) probably benign Het
Il2 AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTGCTGCTGCTG 3: 37,179,913 (GRCm39) probably benign Het
Kcng4 G T 8: 120,360,258 (GRCm39) Y39* probably null Homo
Klra2 G GAAATCCACAT 6: 131,198,815 (GRCm39) probably null Het
Kmt2b CCTCCT CCTCCTTCTCCT 7: 30,285,792 (GRCm39) probably benign Het
Kmt2b CCTCCT CCTCCTGCTCCT 7: 30,285,795 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,803 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,791 (GRCm39) probably benign Het
Krt10 TCCTCC TCCTCCGCCTCC 11: 99,280,099 (GRCm39) probably benign Het
Krt10 TCCGCC TCCGCCGCC 11: 99,277,023 (GRCm39) probably benign Homo
Krt10 TCC TCCTCCACC 11: 99,280,105 (GRCm39) probably benign Homo
Krtap28-10 TCCCACA TCCCACACCCACA 1: 83,019,844 (GRCm39) probably benign Homo
Krtap4-2 A ACAC 11: 99,525,839 (GRCm39) probably benign Het
Krtap9-3 AC ACAGGTGTCGC 11: 99,488,830 (GRCm39) probably benign Het
Las1l AGG AGGGGG X: 94,984,427 (GRCm39) probably benign Het
Las1l GAG GAGCAG X: 94,984,435 (GRCm39) probably benign Het
Las1l AGG AGGCGG X: 94,984,433 (GRCm39) probably benign Het
Lrit3 TGC TGCAGC 3: 129,582,455 (GRCm39) probably benign Het
Lrit3 AC ACATTC 3: 129,597,562 (GRCm39) probably null Homo
Lrit3 GCT GCTTCT 3: 129,582,459 (GRCm39) probably benign Het
Luzp1 A AGGTGGCCTCTTCAGT 4: 136,270,507 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,441 (GRCm39) probably benign Het
Mamld1 GCA GCAACA X: 70,162,445 (GRCm39) probably benign Het
Mapk8ip3 G A 17: 25,121,093 (GRCm39) probably null Homo
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,644 (GRCm39) probably benign Het
Nat8f2 T A 6: 85,844,668 (GRCm39) L231F possibly damaging Homo
Nfxl1 CC CCGGGGAC 5: 72,716,464 (GRCm39) probably benign Het
Noc2l CTG CTGTTG 4: 156,324,552 (GRCm39) probably benign Het
Noc2l GGTAG GG 4: 156,325,958 (GRCm39) probably benign Homo
Noc2l GCT GCTTCT 4: 156,324,551 (GRCm39) probably benign Het
Nxpe5 C T 5: 138,228,196 (GRCm39) probably benign Het
Or10j2 GGGCTGCTTGTGGCAAT G 1: 173,098,197 (GRCm39) probably null Het
Or51a43 G C 7: 103,720,499 (GRCm39) probably benign Homo
Or51f2 CT CTAATTGCCTT 7: 102,526,440 (GRCm39) probably benign Homo
Or8b41 A G 9: 38,054,484 (GRCm39) I13V probably benign Homo
Or8u3-ps CAG CAGAG 2: 85,953,104 (GRCm39) probably null Homo
Osmr C CTCA 15: 6,867,187 (GRCm39) probably null Homo
Patl2 GC GCTAC 2: 121,956,625 (GRCm39) probably null Het
Patl2 C CTGA 2: 121,956,626 (GRCm39) probably benign Het
Patl2 CTG CTGTTG 2: 121,956,617 (GRCm39) probably benign Het
Pdik1l GTTTTTGTTTT GTTTTTGTTTTTTTTTTGTTTT 4: 134,006,678 (GRCm39) probably null Homo
Pdik1l ACCACC ACCACCCCCACC 4: 134,006,817 (GRCm39) probably benign Het
Phc1 GCTG GCTGCTTCTG 6: 122,300,557 (GRCm39) probably benign Het
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Homo
Pitrm1 TTTTA T 13: 6,610,632 (GRCm39) probably benign Homo
Pkdrej TG TGGGAGCG 15: 85,703,881 (GRCm39) probably benign Homo
Pla2g4e AGGG A 2: 120,075,205 (GRCm39) probably benign Homo
Plekhs1 AC ACCTCCCCCGAGCC 19: 56,468,295 (GRCm39) probably benign Het
Pnma8a CCTCATGATGCACCTGCTTCAACATC CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC 7: 16,695,350 (GRCm39) probably benign Homo
Pnma8b TGGA T 7: 16,679,931 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Homo
Prr13 CTC CTCATC 15: 102,370,608 (GRCm39) probably benign Het
Prss41 CACA C 17: 24,063,071 (GRCm39) probably benign Het
Prtg GTAAC G 9: 72,764,363 (GRCm39) probably benign Het
Ptk2b C T 14: 66,411,298 (GRCm39) R411Q possibly damaging Homo
Ptms TCT TCTGCT 6: 124,891,420 (GRCm39) probably benign Homo
Ptms C CTTG 6: 124,891,424 (GRCm39) probably benign Homo
Ptms TTC TTCGTC 6: 124,891,422 (GRCm39) probably benign Homo
Ptpn23 G T 9: 110,216,701 (GRCm39) P1052T probably benign Homo
Rab3il1 C A 19: 10,011,115 (GRCm39) A264E probably damaging Homo
Rbm6 GCTGT G 9: 107,659,954 (GRCm39) probably null Homo
Rtbdn TAG TAGGGGCAG 8: 85,682,790 (GRCm39) probably benign Het
Rtbdn GGC GGCAGCTGC 8: 85,682,806 (GRCm39) probably benign Het
Rtbdn CGGC CGGCAGGGGC 8: 85,682,805 (GRCm39) probably benign Het
Rtbdn AGCG AGCGTCCGCG 8: 85,682,797 (GRCm39) probably benign Het
Sbp CAAAG CAAAGCTGCTGACAAAAAAG 17: 24,164,356 (GRCm39) probably benign Het
Sbp G GCTGACAACAAAGATC 17: 24,164,363 (GRCm39) probably benign Het
Setd1a GTGGTAGTG GTGGTAGTGTTGGTAGTG 7: 127,384,484 (GRCm39) probably benign Het
Sfswap GCCCACTC GCCCACTCATCCCACTC 5: 129,646,820 (GRCm39) probably benign Het
Six3 GGC GGCAGC 17: 85,928,785 (GRCm39) probably benign Het
Six3 GCG GCGCCG 17: 85,928,786 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,790 (GRCm39) probably benign Het
Six3 GGC GGCAGC 17: 85,928,791 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,793 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,796 (GRCm39) probably benign Het
Slc12a1 ACC ACCTTTGGCCACAACTCC 2: 124,996,134 (GRCm39) probably benign Homo
Smarca2 CAGCAGCAGCAGCAGCAGCA CAGCAGCAGCAGCAGCAGCAGCAGCA 19: 26,608,399 (GRCm39) probably benign Homo
Spaca1 TCGCTC TCGCTCGCGCTC 4: 34,049,836 (GRCm39) probably benign Het
Spag1 TTC TTCGTC 15: 36,197,879 (GRCm39) probably benign Het
Spag17 AGG AGGCGG 3: 99,963,573 (GRCm39) probably benign Het
Spata31h1 TTCA T 10: 82,121,303 (GRCm39) probably benign Homo
Srebf2 G T 15: 82,069,536 (GRCm39) A693S probably damaging Homo
Srpk2 T C 5: 23,750,194 (GRCm39) probably null Homo
Sry AACTGCT A Y: 2,663,195 (GRCm39) probably benign Het
Sry GTG GTGTTG Y: 2,662,837 (GRCm39) probably benign Homo
Sry TGG TGGGGG Y: 2,662,838 (GRCm39) probably benign Homo
Stard9 C CTAAGGGACTAGTAGG 2: 120,526,566 (GRCm39) probably benign Het
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,635,079 (GRCm39) probably benign Het
Supt20 CAGCAG CAGCAGAAGCAG 3: 54,635,082 (GRCm39) probably benign Het
Supt20 GCAGCA GCAGCAACAGCA 3: 54,635,078 (GRCm39) probably benign Het
Tcof1 GGGTA G 18: 60,961,722 (GRCm39) probably benign Homo
Tdpoz3 A C 3: 93,733,981 (GRCm39) N219H probably benign Het
Tesk1 C CCCCG 4: 43,447,004 (GRCm39) probably null Homo
Tob1 GCA GCAACA 11: 94,105,290 (GRCm39) probably benign Het
Tob1 CACA CACAACA 11: 94,105,277 (GRCm39) probably benign Het
Tob1 A AGCC 11: 94,105,304 (GRCm39) probably benign Het
Trav15-2-dv6-2 AG AGAGG 14: 53,887,213 (GRCm39) probably benign Homo
Trav15-2-dv6-2 G GAAA 14: 53,887,214 (GRCm39) probably benign Homo
Trim63 GAGT G 4: 134,055,036 (GRCm39) probably benign Het
Tsbp1 CAG CAGAAG 17: 34,679,025 (GRCm39) probably benign Het
Tsbp1 GCA GCATCA 17: 34,679,042 (GRCm39) probably benign Het
Tsen2 G GAGA 6: 115,537,038 (GRCm39) probably benign Het
Ttf2 TC TCCCC 3: 100,870,476 (GRCm39) probably benign Homo
Tusc1 ACCGCC ACCGCCCCCGCC 4: 93,223,550 (GRCm39) probably benign Homo
Ubqlnl TGAG T 7: 103,799,042 (GRCm39) probably benign Homo
Ubtf CCT CCTACT 11: 102,197,774 (GRCm39) probably null Het
Ubtf TCC TCCACC 11: 102,197,776 (GRCm39) probably benign Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Homo
Wasf3 G T 5: 146,407,060 (GRCm39) R460L probably damaging Het
Zc3h13 TGCGAGATG TGCGAGATGAGCGAGATG 14: 75,561,039 (GRCm39) probably benign Homo
Zc3h13 ATGTGCGAG ATGTGCGAGGTGTGCGAG 14: 75,561,036 (GRCm39) probably benign Homo
Zfhx3 GCAACA GCAACAACAACAACA 8: 109,682,720 (GRCm39) probably benign Het
Zfhx3 GCA GCAACAGCACCA 8: 109,682,735 (GRCm39) probably benign Het
Zfhx3 AGCA AGCAACAGACGCA 8: 109,682,734 (GRCm39) probably benign Het
Zfp111 TCA TCAACA 7: 23,899,230 (GRCm39) probably benign Homo
Zfp112 CATGA CATGATGA 7: 23,824,832 (GRCm39) probably benign Homo
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Homo
Zfp282 CGG CGGGGG 6: 47,881,724 (GRCm39) probably benign Het
Zfp282 CGG CGGGGG 6: 47,881,733 (GRCm39) probably benign Het
Zfp335 TC TCCCC 2: 164,749,404 (GRCm39) probably benign Het
Zfp335 TCC TCCGCC 2: 164,749,395 (GRCm39) probably benign Het
Zfp335 CTC CTCGTC 2: 164,749,394 (GRCm39) probably benign Het
Zfp462 CCACC CCACCTCAGCCACAGTCACC 4: 55,009,758 (GRCm39) probably benign Het
Zfp462 ACC ACCTCAGCCACAGTCGCC 4: 55,009,760 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCCCCACC 17: 24,899,750 (GRCm39) probably benign Het
Zfp598 AC ACCACCGC 17: 24,899,765 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCGCCACC 17: 24,899,756 (GRCm39) probably benign Het
Zfp831 TCC TCCCCC 2: 174,487,264 (GRCm39) probably benign Het
Zfp831 TC TCCGC 2: 174,487,276 (GRCm39) probably benign Het
Zfp831 CTC CTCATC 2: 174,487,269 (GRCm39) probably benign Het
Zfp93 CAGGCATAG CAG 7: 23,974,814 (GRCm39) probably benign Homo
Zscan10 TGACG TG 17: 23,828,419 (GRCm39) probably benign Homo
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 85,365,349 (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
R1835:Cacna1a UTSW 8 85,307,986 (GRCm39) splice site probably null
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'- TTCAGATGATGCCACGAGGG -3'
(R):5'- TTCCGAAGTCACTCACAGGC -3'

Sequencing Primer
(F):5'- GAAACCAGGGGCTGCTG -3'
(R):5'- AAGTCACTCACAGGCGTCCG -3'
Posted On 2018-04-05