Incidental Mutation 'R5247:Cacng1'
ID 401203
Institutional Source Beutler Lab
Gene Symbol Cacng1
Ensembl Gene ENSMUSG00000020722
Gene Name calcium channel, voltage-dependent, gamma subunit 1
Synonyms
MMRRC Submission 042818-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5247 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 107594044-107607302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107607105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 38 (H38R)
Ref Sequence ENSEMBL: ENSMUSP00000021065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021065]
AlphaFold O70578
Predicted Effect probably benign
Transcript: ENSMUST00000021065
AA Change: H38R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021065
Gene: ENSMUSG00000020722
AA Change: H38R

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 200 6.3e-12 PFAM
Pfam:Claudin_2 17 202 2.6e-41 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A T 1: 72,719,343 (GRCm39) V502E probably benign Het
Atad2 A T 15: 57,967,874 (GRCm39) L585* probably null Het
Atp6v0a2 T C 5: 124,790,241 (GRCm39) S475P probably damaging Het
Ccdc168 A C 1: 44,096,166 (GRCm39) L1644* probably null Het
Celsr2 A G 3: 108,304,946 (GRCm39) V2168A probably benign Het
Cnot4 C T 6: 35,028,351 (GRCm39) V422I probably damaging Het
Col1a1 T C 11: 94,838,013 (GRCm39) probably null Het
Cspg4b A T 13: 113,455,993 (GRCm39) I680F probably damaging Het
Ctcfl A T 2: 172,955,402 (GRCm39) C287S probably damaging Het
Eps8l1 T A 7: 4,473,401 (GRCm39) D133E probably damaging Het
Fam161b A G 12: 84,404,524 (GRCm39) L52P probably damaging Het
Fam98c T C 7: 28,855,126 (GRCm39) E99G possibly damaging Het
Fmn2 A T 1: 174,648,794 (GRCm39) I1574L probably benign Het
Gabrb3 T A 7: 57,240,339 (GRCm39) L8Q possibly damaging Het
Hck A T 2: 152,976,615 (GRCm39) K250* probably null Het
Herc1 A G 9: 66,341,833 (GRCm39) E1874G probably benign Het
Igf2 G T 7: 142,207,668 (GRCm39) A143D possibly damaging Het
Isg20l2 A G 3: 87,838,920 (GRCm39) N44D possibly damaging Het
Kdm7a T A 6: 39,121,390 (GRCm39) Q855L probably benign Het
Kif15 T C 9: 122,815,507 (GRCm39) S434P possibly damaging Het
Klrc3 A T 6: 129,618,425 (GRCm39) N119K probably damaging Het
L3mbtl3 T C 10: 26,203,706 (GRCm39) M375V unknown Het
Lpcat4 A G 2: 112,072,860 (GRCm39) H173R possibly damaging Het
Mapk13 A T 17: 28,996,725 (GRCm39) Q264L probably benign Het
Mrps18c C G 5: 100,946,659 (GRCm39) C8W probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nlrp4b T A 7: 10,448,145 (GRCm39) I116N probably benign Het
Or10h1 A G 17: 33,418,504 (GRCm39) T161A probably benign Het
Or5b124 T A 19: 13,610,778 (GRCm39) F101Y probably damaging Het
Prdm1 A T 10: 44,316,098 (GRCm39) H679Q probably damaging Het
Prickle2 T A 6: 92,352,950 (GRCm39) S839C probably damaging Het
Rps19 T A 7: 24,584,878 (GRCm39) S36T probably damaging Het
Serpinb1a T A 13: 33,034,389 (GRCm39) M1L probably damaging Het
Slc16a7 A T 10: 125,067,183 (GRCm39) M152K probably damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Stx18 A T 5: 38,263,977 (GRCm39) Y141F probably damaging Het
Tgfb2 A T 1: 186,382,111 (GRCm39) probably null Het
Tle7 T C 8: 110,837,209 (GRCm39) F299S probably damaging Het
Tmem151b A T 17: 45,856,571 (GRCm39) Y290N probably damaging Het
Ttn G A 2: 76,558,766 (GRCm39) T29705M probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Usp19 T G 9: 108,373,264 (GRCm39) probably null 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
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
R9171:Cacng1 UTSW 11 107,607,060 (GRCm39) missense probably damaging 1.00
R9475:Cacng1 UTSW 11 107,607,118 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TCTGCCAACAAACTCTGCTC -3'
(R):5'- ACTGCCACCATCTAGCTAGCTG -3'

Sequencing Primer
(F):5'- CTTATCTTGGAGTCTTGAAAGGAC -3'
(R):5'- ATCTAGCTAGCTGCCTGGGAG -3'
Posted On 2016-07-06