Incidental Mutation 'IGL01084:Cacng5'
ID 278164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacng5
Ensembl Gene ENSMUSG00000040373
Gene Name calcium channel, voltage-dependent, gamma subunit 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01084
Quality Score
Status
Chromosome 11
Chromosomal Location 107765431-107805881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107772531 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8VHW4
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,546,901 (GRCm39) Q284K probably damaging Het
Adgrd1 A T 5: 129,216,656 (GRCm39) N341I probably benign Het
Arhgap40 T C 2: 158,385,138 (GRCm39) F457S probably damaging Het
Catsper1 G A 19: 5,387,800 (GRCm39) V360M probably damaging Het
Cdc42bpa T A 1: 179,969,839 (GRCm39) probably benign Het
Cep250 C T 2: 155,840,313 (GRCm39) H2424Y probably benign Het
Cln3 T C 7: 126,174,426 (GRCm39) E304G probably damaging Het
Eml2 T A 7: 18,924,663 (GRCm39) C177* probably null Het
Epha5 G A 5: 84,218,946 (GRCm39) R917* probably null Het
Gabra2 A G 5: 71,163,576 (GRCm39) F244L probably damaging Het
Gars1 C A 6: 55,032,812 (GRCm39) D261E probably benign Het
Gata3os A G 2: 9,887,884 (GRCm39) probably benign Het
Keg1 A G 19: 12,691,976 (GRCm39) K98E probably damaging Het
Kif13a A G 13: 46,904,110 (GRCm39) probably benign Het
Matn1 A G 4: 130,679,245 (GRCm39) K300E probably benign Het
Mesp1 A G 7: 79,442,831 (GRCm39) S149P probably benign Het
Mmp10 T C 9: 7,505,651 (GRCm39) V305A possibly damaging Het
Muc5b T C 7: 141,397,186 (GRCm39) probably benign Het
Myof T C 19: 37,924,884 (GRCm39) T1181A probably damaging Het
Or1r1 A T 11: 73,875,353 (GRCm39) L27Q probably damaging Het
Or5d35 T C 2: 87,855,347 (GRCm39) S94P probably benign Het
Or9i16 G T 19: 13,864,866 (GRCm39) T236N probably damaging Het
Osbpl11 T C 16: 33,047,221 (GRCm39) probably benign Het
Prune2 T C 19: 17,095,573 (GRCm39) V359A probably benign Het
Ptch1 T A 13: 63,691,451 (GRCm39) E267D probably damaging Het
Rbl2 A G 8: 91,848,941 (GRCm39) E1049G probably damaging Het
Ruvbl2 A T 7: 45,071,947 (GRCm39) probably null Het
Sec23b A G 2: 144,406,509 (GRCm39) I101M possibly damaging Het
Srms A C 2: 180,848,177 (GRCm39) probably null Het
Svep1 T A 4: 58,111,419 (GRCm39) T1067S possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem127 T C 2: 127,099,006 (GRCm39) V180A probably damaging Het
Trpm7 A G 2: 126,687,992 (GRCm39) probably null Het
Trpv3 G A 11: 73,184,826 (GRCm39) probably null Het
Tti1 C T 2: 157,824,379 (GRCm39) V1025I probably damaging Het
Vmn2r80 A G 10: 79,030,433 (GRCm39) Y753C probably damaging Het
Vps13d A G 4: 144,881,525 (GRCm39) L1350S probably benign Het
Zfp287 G T 11: 62,604,716 (GRCm39) Y730* probably null Het
Zfp583 A G 7: 6,320,184 (GRCm39) F276S probably damaging Het
Zfp638 T C 6: 83,921,780 (GRCm39) Y636H probably benign Het
Other mutations in Cacng5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01075:Cacng5 APN 11 107,772,531 (GRCm39) missense probably benign 0.02
IGL01077:Cacng5 APN 11 107,772,531 (GRCm39) missense probably benign 0.02
IGL01080:Cacng5 APN 11 107,772,531 (GRCm39) missense probably benign 0.02
IGL01080:Cacng5 APN 11 107,768,754 (GRCm39) missense probably damaging 1.00
IGL01082:Cacng5 APN 11 107,772,531 (GRCm39) missense probably benign 0.02
IGL01083:Cacng5 APN 11 107,772,531 (GRCm39) missense probably benign 0.02
IGL01956:Cacng5 APN 11 107,773,735 (GRCm39) missense possibly damaging 0.50
IGL02136:Cacng5 APN 11 107,772,557 (GRCm39) missense probably benign 0.09
R0040:Cacng5 UTSW 11 107,775,336 (GRCm39) missense probably damaging 1.00
R0078:Cacng5 UTSW 11 107,768,259 (GRCm39) missense probably benign
R0410:Cacng5 UTSW 11 107,768,195 (GRCm39) missense possibly damaging 0.94
R0479:Cacng5 UTSW 11 107,768,777 (GRCm39) missense probably benign 0.07
R5088:Cacng5 UTSW 11 107,768,215 (GRCm39) missense possibly damaging 0.81
R5216:Cacng5 UTSW 11 107,768,315 (GRCm39) missense possibly damaging 0.55
R5520:Cacng5 UTSW 11 107,768,248 (GRCm39) missense probably benign 0.01
R6019:Cacng5 UTSW 11 107,775,214 (GRCm39) missense probably benign 0.00
R6751:Cacng5 UTSW 11 107,768,379 (GRCm39) missense probably benign
R8712:Cacng5 UTSW 11 107,772,510 (GRCm39) missense probably benign 0.00
Z1176:Cacng5 UTSW 11 107,775,172 (GRCm39) missense probably null 0.97
Z1176:Cacng5 UTSW 11 107,768,372 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16