Incidental Mutation 'IGL01956:Cacng5'
ID181097
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: 0.064) question?
Stock #IGL01956
Quality Score
Status
Chromosome11
Chromosomal Location107874605-107915055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107882909 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 88 (E88G)
Ref Sequence ENSEMBL: ENSMUSP00000102353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039071] [ENSMUST00000106742]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039071
AA Change: E88G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047888
Gene: ENSMUSG00000040373
AA Change: E88G

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 3.7e-25 PFAM
Pfam:Claudin_2 10 198 4.6e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106742
AA Change: E88G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102353
Gene: ENSMUSG00000040373
AA Change: E88G

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik A G 18: 12,189,350 N620S probably damaging Het
Adamts3 C T 5: 89,677,911 G1022D probably damaging Het
Adgrv1 T C 13: 81,446,430 H4155R possibly damaging Het
Akna A T 4: 63,379,290 D842E probably benign Het
Ccdc36 T C 9: 108,417,319 probably benign Het
Fbxw18 G A 9: 109,693,357 P148L probably damaging Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Myo5c A G 9: 75,242,876 probably null Het
Nudcd1 A G 15: 44,400,216 Y277H probably damaging Het
Nvl A G 1: 181,134,944 S154P probably benign Het
Olfr776 T A 10: 129,261,042 I27N possibly damaging Het
Pah G A 10: 87,538,199 E76K probably benign Het
Peli1 T A 11: 21,148,501 I412N probably damaging Het
Slc18a2 T C 19: 59,287,176 probably benign Het
Stx1a T C 5: 135,037,469 probably benign Het
Syne2 G A 12: 76,097,974 D1566N probably damaging Het
Syt7 G T 19: 10,443,391 E433D probably benign Het
Tas2r102 G A 6: 132,762,453 W108* probably null Het
Trappc11 A G 8: 47,528,001 V135A possibly damaging Het
Unk T C 11: 116,056,334 S598P probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp729a A T 13: 67,621,686 H141Q 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
IGL01082:Cacng5 APN 11 107881705 missense probably benign 0.02
IGL01083:Cacng5 APN 11 107881705 missense probably benign 0.02
IGL01084:Cacng5 APN 11 107881705 missense probably benign 0.02
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
R8712:Cacng5 UTSW 11 107881684 missense probably benign 0.00
Z1176:Cacng5 UTSW 11 107877546 missense probably damaging 1.00
Z1176:Cacng5 UTSW 11 107884346 missense probably null 0.97
Posted On2014-05-07