Incidental Mutation 'IGL01080:Cacng5'
ID278159
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: 0.098) question?
Stock #IGL01080
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,934,258 R663W probably damaging Het
Cd96 T C 16: 46,049,693 E471G possibly damaging Het
Cpt1c T C 7: 44,960,909 D621G probably damaging Het
Csmd3 T C 15: 47,881,403 I1503V probably benign Het
Dmgdh T C 13: 93,703,778 probably benign Het
Flg A T 3: 93,279,599 K119N probably benign Het
Gale T C 4: 135,966,078 Y104H probably damaging Het
Gm8005 T C 14: 42,437,014 D119G unknown Het
Gstk1 A T 6: 42,246,626 D50V possibly damaging Het
Kmt2a T C 9: 44,809,092 D3866G unknown Het
Mastl A G 2: 23,146,148 S119P probably damaging Het
Olfr169 A T 16: 19,566,208 V225E probably damaging Het
Phf11c G A 14: 59,393,199 T19I probably benign Het
Ppp1r16b A G 2: 158,757,172 T355A probably damaging Het
Prmt7 T G 8: 106,237,214 probably benign Het
Rad50 T C 11: 53,706,068 T44A probably damaging Het
Rangap1 C T 15: 81,705,752 probably benign Het
Slc27a3 A T 3: 90,385,460 V634E probably benign Het
Tbxas1 T A 6: 39,021,181 L228I probably damaging Het
Tnfaip3 T C 10: 19,011,655 K41E probably benign Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Tyrobp T C 7: 30,417,416 probably null Het
Wfdc16 A T 2: 164,638,486 W30R probably damaging Het
Zyg11b A T 4: 108,237,416 L657Q 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 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
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
R7952:Cacng5 UTSW 11 107881592 splice site probably null
Z1176:Cacng5 UTSW 11 107877546 missense probably damaging 1.00
Z1176:Cacng5 UTSW 11 107884346 missense probably null 0.97
Posted On2015-04-16