Incidental Mutation 'R9171:Cacng1'
ID 696426
Institutional Source Beutler Lab
Gene Symbol Cacng1
Ensembl Gene ENSMUSG00000020722
Gene Name calcium channel, voltage-dependent, gamma subunit 1
Synonyms
MMRRC Submission 068976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R9171 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 107594044-107607302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107607060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 53 (L53P)
Ref Sequence ENSEMBL: ENSMUSP00000021065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021065]
AlphaFold O70578
Predicted Effect probably damaging
Transcript: ENSMUST00000021065
AA Change: L53P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021065
Gene: ENSMUSG00000020722
AA Change: L53P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 200 6.3e-12 PFAM
Pfam:Claudin_2 17 202 2.6e-41 PFAM
Meta Mutation Damage Score 0.9024 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for null mutations display abnormal muscle calcium currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra T A 15: 41,732,512 (GRCm39) T185S possibly damaging Het
Acad10 T A 5: 121,767,981 (GRCm39) H823L probably benign Het
Acly A G 11: 100,407,657 (GRCm39) V231A probably benign Het
Adamts9 T C 6: 92,849,381 (GRCm39) N1026S probably benign Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Ankrd65 A G 4: 155,875,800 (GRCm39) E7G probably benign Het
Ap1g2 T C 14: 55,336,581 (GRCm39) H771R probably benign Het
Atp9a A G 2: 168,485,780 (GRCm39) probably null Het
Atxn10 T G 15: 85,277,557 (GRCm39) H341Q probably damaging Het
Cdh23 T C 10: 60,161,810 (GRCm39) N2014S probably benign Het
Cma1 T C 14: 56,181,189 (GRCm39) N72S probably benign Het
Col7a1 G A 9: 108,807,953 (GRCm39) G2551D unknown Het
Cyp20a1 T G 1: 60,415,343 (GRCm39) L323R probably damaging Het
Dnah11 A T 12: 117,894,918 (GRCm39) V3643E probably damaging Het
Dnmt3l A C 10: 77,895,518 (GRCm39) D352A probably benign Het
Dock2 A T 11: 34,589,670 (GRCm39) N462K probably benign Het
Drc1 A G 5: 30,513,794 (GRCm39) Q450R probably benign Het
Drgx C T 14: 32,330,339 (GRCm39) S152F probably damaging Het
Efcab3 A G 11: 104,800,708 (GRCm39) T2977A probably benign Het
Eid3 C T 10: 82,703,316 (GRCm39) T259M probably damaging Het
Eif2ak3 T G 6: 70,835,419 (GRCm39) D115E probably damaging Het
Ezh2 A C 6: 47,531,134 (GRCm39) D183E probably benign Het
Fam114a1 A C 5: 65,191,713 (GRCm39) probably null Het
Fcho2 G A 13: 98,891,607 (GRCm39) T385I probably benign Het
Gm6882 C A 7: 21,161,254 (GRCm39) E205* probably null Het
Hexim2 G A 11: 103,029,822 (GRCm39) W291* probably null Het
Hnrnpab A C 11: 51,492,710 (GRCm39) S265R unknown Het
Hsd17b1 A G 11: 100,969,832 (GRCm39) N115D probably damaging Het
Ighmbp2 T C 19: 3,315,641 (GRCm39) D593G possibly damaging Het
Inf2 C A 12: 112,567,965 (GRCm39) C172* probably null Het
Invs A T 4: 48,398,149 (GRCm39) N445I possibly damaging Het
Izumo2 A G 7: 44,369,184 (GRCm39) Q186R probably benign Het
Kcnj15 T C 16: 95,097,481 (GRCm39) F368L probably benign Het
Kctd20 A G 17: 29,185,866 (GRCm39) D403G probably damaging Het
Kmt2c A C 5: 25,486,309 (GRCm39) V4748G probably damaging Het
Lrrc37a A G 11: 103,393,140 (GRCm39) S762P probably benign Het
Man2c1 C T 9: 57,044,317 (GRCm39) Q324* probably null Het
Mgam A G 6: 40,745,146 (GRCm39) I1804M possibly damaging Het
Mmp28 A G 11: 83,335,661 (GRCm39) V279A probably benign Het
Mrpl22 T C 11: 58,070,185 (GRCm39) V164A possibly damaging Het
Obscn A T 11: 58,952,329 (GRCm39) H3913Q possibly damaging Het
Or6e1 T C 14: 54,520,329 (GRCm39) T8A probably benign Het
Or8g50 C T 9: 39,648,516 (GRCm39) T135I probably benign Het
Paqr6 A G 3: 88,273,066 (GRCm39) T46A probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Piezo2 T C 18: 63,178,550 (GRCm39) D1789G probably benign Het
Pou4f2 T C 8: 79,162,748 (GRCm39) T96A probably benign Het
Ppp1r12b A T 1: 134,801,725 (GRCm39) V497E probably benign Het
Prdm13 C G 4: 21,679,659 (GRCm39) R277P unknown Het
Rsph4a C T 10: 33,785,438 (GRCm39) Q450* probably null Het
Sh3d19 C T 3: 85,990,918 (GRCm39) probably benign Het
Slc39a14 T C 14: 70,547,687 (GRCm39) T259A probably benign Het
Snap91 T C 9: 86,680,672 (GRCm39) T404A probably benign Het
Sptbn4 A T 7: 27,141,844 (GRCm39) C50S possibly damaging Het
Stx8 A C 11: 67,875,471 (GRCm39) N99H possibly damaging Het
Tgfbi A T 13: 56,773,526 (GRCm39) M175L probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Tle1 A T 4: 72,043,232 (GRCm39) C536S possibly damaging Het
Tprn A G 2: 25,152,799 (GRCm39) S34G probably benign Het
Vmn1r80 A T 7: 11,927,124 (GRCm39) D78V possibly damaging Het
Other mutations in Cacng1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Cacng1 APN 11 107,595,195 (GRCm39) missense probably benign
IGL02623:Cacng1 APN 11 107,595,145 (GRCm39) missense probably damaging 1.00
R0920:Cacng1 UTSW 11 107,596,682 (GRCm39) splice site probably benign
R2042:Cacng1 UTSW 11 107,595,134 (GRCm39) missense probably damaging 1.00
R3906:Cacng1 UTSW 11 107,607,118 (GRCm39) missense probably benign 0.00
R3908:Cacng1 UTSW 11 107,607,118 (GRCm39) missense probably benign 0.00
R3909:Cacng1 UTSW 11 107,607,118 (GRCm39) missense probably benign 0.00
R5247:Cacng1 UTSW 11 107,607,105 (GRCm39) missense probably benign 0.45
R7158:Cacng1 UTSW 11 107,594,665 (GRCm39) missense probably damaging 0.99
R7473:Cacng1 UTSW 11 107,607,018 (GRCm39) missense probably damaging 0.97
R9475:Cacng1 UTSW 11 107,607,118 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- AGTACCTCAGGCTGTTTCCATC -3'
(R):5'- ACCATCTAGCTAGCTGCCTG -3'

Sequencing Primer
(F):5'- CCATCTTGATCCTTTGCAGAAAAATC -3'
(R):5'- TCTAGCTAGCTGCCTGGGAGAC -3'
Posted On 2022-02-07