Incidental Mutation 'IGL01082:Cacng5'
ID278161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacng5
Ensembl Gene ENSMUSG00000040373
Gene Namecalcium channel, voltage-dependent, gamma subunit 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01082
Quality Score
Status
Chromosome11
Chromosomal Location107874605-107915055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 107881705 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 106 (V106I)
Ref Sequence ENSEMBL: ENSMUSP00000102353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039071] [ENSMUST00000106742]
Predicted Effect probably benign
Transcript: ENSMUST00000039071
AA Change: V106I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000047888
Gene: ENSMUSG00000040373
AA Change: V106I

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 3.7e-25 PFAM
Pfam:Claudin_2 10 198 4.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106742
AA Change: V106I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102353
Gene: ENSMUSG00000040373
AA Change: V106I

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 3.8e-25 PFAM
Pfam:Claudin_2 18 198 7e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. 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, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,114 S723F probably damaging Het
Ccdc116 A G 16: 17,141,992 S278P probably damaging Het
Cep152 A T 2: 125,569,545 probably benign Het
Cftr T C 6: 18,226,103 V350A probably damaging Het
Dsc2 A T 18: 20,043,792 N399K probably damaging Het
Eif3d T C 15: 77,959,743 T468A probably damaging Het
Fam110b C T 4: 5,799,461 A293V possibly damaging Het
Flrt1 T C 19: 7,095,974 T403A probably benign Het
Hist1h3e A G 13: 23,562,374 probably benign Het
Ift140 T A 17: 25,048,455 V609E possibly damaging Het
Klb G A 5: 65,375,940 V531I possibly damaging Het
Krt73 T C 15: 101,798,937 probably null Het
Mcm2 A G 6: 88,887,877 V539A probably benign Het
Myb A G 10: 21,152,944 V85A probably damaging Het
Ndufs1 T C 1: 63,164,817 E102G probably damaging Het
Nr5a2 C A 1: 136,845,468 A499S probably benign Het
Olfr1201 T C 2: 88,795,293 F304L probably benign Het
Olfr1256 A T 2: 89,844,063 probably benign Het
Olfr126 T A 17: 37,850,623 S10R probably benign Het
Opa1 A T 16: 29,618,115 probably benign Het
Pcnx G A 12: 81,990,598 E1877K possibly damaging Het
Sel1l A G 12: 91,811,908 V711A probably benign Het
Slc22a16 A G 10: 40,573,864 T120A probably benign Het
Slc26a1 G T 5: 108,671,878 T485N possibly damaging Het
Sp100 T C 1: 85,670,020 V201A possibly damaging Het
Spz1 T G 13: 92,575,521 K149T probably damaging Het
Stxbp5l A G 16: 37,204,578 S553P possibly damaging Het
Szt2 A G 4: 118,397,624 S290P probably damaging Het
Tbc1d10c A G 19: 4,189,027 Y165H probably damaging Het
Tnxb C A 17: 34,714,610 Q2335K probably damaging Het
Trim33 T C 3: 103,326,859 I471T possibly damaging Het
Vsig10 A G 5: 117,334,905 I188V probably benign Het
Zfp109 A T 7: 24,234,359 L45Q probably damaging Het
Other mutations in Cacng5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01075:Cacng5 APN 11 107881705 missense probably benign 0.02
IGL01077:Cacng5 APN 11 107881705 missense probably benign 0.02
IGL01080:Cacng5 APN 11 107881705 missense probably benign 0.02
IGL01080:Cacng5 APN 11 107877928 missense probably damaging 1.00
IGL01083:Cacng5 APN 11 107881705 missense probably benign 0.02
IGL01084:Cacng5 APN 11 107881705 missense probably benign 0.02
IGL01956:Cacng5 APN 11 107882909 missense possibly damaging 0.50
IGL02136:Cacng5 APN 11 107881731 missense probably benign 0.09
R0040:Cacng5 UTSW 11 107884510 missense probably damaging 1.00
R0078:Cacng5 UTSW 11 107877433 missense probably benign
R0410:Cacng5 UTSW 11 107877369 missense possibly damaging 0.94
R0479:Cacng5 UTSW 11 107877951 missense probably benign 0.07
R5088:Cacng5 UTSW 11 107877389 missense possibly damaging 0.81
R5216:Cacng5 UTSW 11 107877489 missense possibly damaging 0.55
R5520:Cacng5 UTSW 11 107877422 missense probably benign 0.01
R6019:Cacng5 UTSW 11 107884388 missense probably benign 0.00
R6751:Cacng5 UTSW 11 107877553 missense probably benign
Z1176:Cacng5 UTSW 11 107877546 missense probably damaging 1.00
Z1176:Cacng5 UTSW 11 107884346 missense probably null 0.97
Posted On2015-04-16