Incidental Mutation 'IGL02623:Cacng1'
ID 300968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacng1
Ensembl Gene ENSMUSG00000020722
Gene Name calcium channel, voltage-dependent, gamma subunit 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02623
Quality Score
Status
Chromosome 11
Chromosomal Location 107594044-107607302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107595145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 144 (F144S)
Ref Sequence ENSEMBL: ENSMUSP00000021065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021065]
AlphaFold O70578
Predicted Effect probably damaging
Transcript: ENSMUST00000021065
AA Change: F144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021065
Gene: ENSMUSG00000020722
AA Change: F144S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 200 6.3e-12 PFAM
Pfam:Claudin_2 17 202 2.6e-41 PFAM
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,853,032 (GRCm39) I35F probably benign Het
Acad10 A G 5: 121,767,993 (GRCm39) V819A possibly damaging Het
Adgrd1 A T 5: 129,209,809 (GRCm39) N279Y probably damaging Het
Aplp2 C A 9: 31,089,379 (GRCm39) probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,360 (GRCm39) D193G probably damaging Het
Cfap91 T A 16: 38,154,140 (GRCm39) D135V possibly damaging Het
Dnm3 T A 1: 162,183,001 (GRCm39) T105S probably damaging Het
Efcab6 T A 15: 83,763,649 (GRCm39) I1228F probably damaging Het
Erc2 A G 14: 27,498,937 (GRCm39) D271G probably damaging Het
Fat3 T C 9: 15,908,433 (GRCm39) Y2523C probably damaging Het
Fhl4 A G 10: 84,934,035 (GRCm39) F249L probably damaging Het
Gm17782 T C 17: 36,472,958 (GRCm39) probably benign Het
Gm4787 A G 12: 81,425,502 (GRCm39) Y219H probably damaging Het
Hk1 A G 10: 62,128,138 (GRCm39) L328P probably benign Het
Hspa12a T A 19: 58,797,983 (GRCm39) Y245F probably benign Het
Kbtbd12 T C 6: 88,595,371 (GRCm39) Y153C probably damaging Het
Kcnd2 A T 6: 21,726,194 (GRCm39) R562S probably benign Het
Lct T C 1: 128,235,988 (GRCm39) S340G probably benign Het
Mettl25 C A 10: 105,662,185 (GRCm39) G262W probably damaging Het
Mindy3 G A 2: 12,369,294 (GRCm39) Q142* probably null Het
Optn T C 2: 5,039,833 (GRCm39) E318G probably damaging Het
Or8j3 A T 2: 86,028,363 (GRCm39) H244Q probably damaging Het
Pan2 T C 10: 128,148,768 (GRCm39) S443P probably benign Het
Parva A G 7: 112,175,646 (GRCm39) D259G probably damaging Het
Pkhd1l1 T A 15: 44,448,269 (GRCm39) L3816Q probably damaging Het
Polq T C 16: 36,880,737 (GRCm39) F967S probably benign Het
Prdm16 T C 4: 154,425,334 (GRCm39) N817S probably damaging Het
Ptprt C A 2: 161,449,372 (GRCm39) probably benign Het
Rbbp8nl T A 2: 179,923,236 (GRCm39) S154C probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slit1 T C 19: 41,640,122 (GRCm39) I169V probably damaging Het
Smyd4 G T 11: 75,280,890 (GRCm39) probably benign Het
Tial1 A G 7: 128,045,607 (GRCm39) Y326H probably benign Het
Tmem198b A G 10: 128,638,320 (GRCm39) L81P probably damaging Het
Tmem94 T A 11: 115,687,227 (GRCm39) C1115* probably null Het
Tns3 A G 11: 8,387,141 (GRCm39) S1349P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zfp106 A T 2: 120,376,395 (GRCm39) probably null Het
Zfp119b T C 17: 56,246,793 (GRCm39) E99G probably damaging Het
Zfp462 T A 4: 55,012,986 (GRCm39) C503S probably damaging Het
Zfyve19 G A 2: 119,042,496 (GRCm39) probably null Het
Zxdc G T 6: 90,359,352 (GRCm39) K661N probably damaging Het
Other mutations in Cacng1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Cacng1 APN 11 107,595,195 (GRCm39) missense probably benign
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
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
Posted On 2015-04-16