Incidental Mutation 'IGL00942:Cacng1'
ID28556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacng1
Ensembl Gene ENSMUSG00000020722
Gene Namecalcium channel, voltage-dependent, gamma subunit 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL00942
Quality Score
Status
Chromosome11
Chromosomal Location107703218-107716522 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107704369 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 127 (F127L)
Ref Sequence ENSEMBL: ENSMUSP00000021065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021065]
Predicted Effect probably benign
Transcript: ENSMUST00000021065
AA Change: F127L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021065
Gene: ENSMUSG00000020722
AA Change: F127L

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A G 10: 116,113,436 S62P possibly damaging Het
Arap2 A C 5: 62,698,389 L568* probably null Het
Arfgef2 G A 2: 166,885,853 V1574M probably damaging Het
Arhgef12 C T 9: 42,982,000 R969H probably damaging Het
Cntnap5c T C 17: 57,769,598 V10A probably benign Het
Crtac1 T G 19: 42,323,794 D160A probably damaging Het
Csmd3 C T 15: 47,847,106 probably null Het
Grin3a A G 4: 49,770,589 F728L probably damaging Het
Hecw1 C T 13: 14,340,740 probably benign Het
Hist1h3a T C 13: 23,761,938 probably benign Het
Iyd C T 10: 3,554,070 C239F probably damaging Het
Madd A G 2: 91,170,578 V486A probably damaging Het
Map3k7 A G 4: 32,019,539 D533G probably damaging Het
Matk A G 10: 81,258,294 D20G probably benign Het
Mphosph10 A G 7: 64,389,755 S156P probably benign Het
Mtif2 G A 11: 29,538,753 E356K probably damaging Het
Ndufb10 T C 17: 24,724,184 probably null Het
Nipal3 A T 4: 135,468,593 L233Q possibly damaging Het
Olfr860 T C 9: 19,846,259 Y120C probably damaging Het
Prss32 T A 17: 23,859,160 C273* probably null Het
Prtg T C 9: 72,892,340 S807P possibly damaging Het
Ric3 T G 7: 109,054,412 E157D probably damaging Het
Ric3 T A 7: 109,054,413 E157V probably damaging Het
Slc16a14 G A 1: 84,922,871 T131I probably damaging Het
Slc1a2 A T 2: 102,739,814 N137Y probably damaging Het
Slc25a27 T C 17: 43,664,089 I94V probably benign Het
Slco1a1 G A 6: 141,946,628 T4I probably benign Het
Slf1 A T 13: 77,043,947 F923I possibly damaging Het
Ttll12 A C 15: 83,582,448 V306G possibly damaging Het
Tulp2 G A 7: 45,516,268 V97I possibly damaging Het
Vmn2r65 T G 7: 84,943,553 Q482P probably damaging Het
Wdr24 T A 17: 25,826,621 N443K probably benign Het
Other mutations in Cacng1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02623:Cacng1 APN 11 107704319 missense probably damaging 1.00
R0920:Cacng1 UTSW 11 107705856 splice site probably benign
R2042:Cacng1 UTSW 11 107704308 missense probably damaging 1.00
R3906:Cacng1 UTSW 11 107716292 missense probably benign 0.00
R3908:Cacng1 UTSW 11 107716292 missense probably benign 0.00
R3909:Cacng1 UTSW 11 107716292 missense probably benign 0.00
R5247:Cacng1 UTSW 11 107716279 missense probably benign 0.45
R7158:Cacng1 UTSW 11 107703839 missense probably damaging 0.99
R7473:Cacng1 UTSW 11 107716192 missense probably damaging 0.97
Posted On2013-04-17