Incidental Mutation 'IGL01075:Cacng5'
ID278154
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: 0.065) question?
Stock #IGL01075
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,987,025 T700A possibly damaging Het
Chd3 T C 11: 69,359,965 D646G probably damaging Het
Esf1 A G 2: 140,120,745 V802A probably benign Het
Gm13084 T C 4: 143,811,646 T252A possibly damaging Het
Hdac6 T C X: 7,936,452 probably null Het
Il1rap A C 16: 26,680,237 N162T possibly damaging Het
Mpdu1 T C 11: 69,657,325 T208A probably damaging Het
Mrpl51 T C 6: 125,192,603 V56A probably benign Het
Myadm A C 7: 3,297,246 T175P probably damaging Het
Nek1 C A 8: 61,124,132 T1077K possibly damaging Het
Olfr1153 A G 2: 87,896,921 T249A probably benign Het
Pcnt G A 10: 76,422,904 Q576* probably null Het
Tchhl1 A T 3: 93,470,316 D109V probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tns3 G A 11: 8,478,399 P848S probably benign Het
Ttc4 T C 4: 106,671,648 I209M probably benign Het
Zfp536 A T 7: 37,567,890 S700R probably damaging Het
Other mutations in Cacng5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2015-04-16