Incidental Mutation 'R0040:Cacng5'
ID 15524
Institutional Source Beutler Lab
Gene Symbol Cacng5
Ensembl Gene ENSMUSG00000040373
Gene Name calcium channel, voltage-dependent, gamma subunit 5
Synonyms
MMRRC Submission 038334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0040 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 107765431-107805881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107775336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 11 (L11Q)
Ref Sequence ENSEMBL: ENSMUSP00000102353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039071] [ENSMUST00000106742]
AlphaFold Q8VHW4
Predicted Effect probably damaging
Transcript: ENSMUST00000039071
AA Change: L11Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047888
Gene: ENSMUSG00000040373
AA Change: L11Q

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 3.7e-25 PFAM
Pfam:Claudin_2 10 198 4.6e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106742
AA Change: L11Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102353
Gene: ENSMUSG00000040373
AA Change: L11Q

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 3.8e-25 PFAM
Pfam:Claudin_2 18 198 7e-22 PFAM
Meta Mutation Damage Score 0.7408 question?
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 77.3%
  • 10x: 61.4%
  • 20x: 43.8%
Validation Efficiency 96% (74/77)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,622,165 (GRCm39) L356R possibly damaging Het
Antxr2 G A 5: 98,086,284 (GRCm39) T441I possibly damaging Het
Apcs A G 1: 172,722,023 (GRCm39) Y108H probably benign Het
Arpp21 T C 9: 111,976,477 (GRCm39) probably benign Het
Atcay C T 10: 81,046,353 (GRCm39) probably null Het
Bahcc1 A G 11: 120,159,196 (GRCm39) D141G probably damaging Het
Ccdc73 T C 2: 104,822,429 (GRCm39) S793P probably damaging Het
Ceacam10 A G 7: 24,477,689 (GRCm39) Y68C probably damaging Het
Csmd3 G A 15: 47,497,212 (GRCm39) P3062S probably damaging Het
Dctn4 A G 18: 60,677,114 (GRCm39) N145D possibly damaging Het
Dusp12 A G 1: 170,708,226 (GRCm39) Y164H probably damaging Het
Fat1 A G 8: 45,479,441 (GRCm39) D2829G probably damaging Het
Fbxl13 T C 5: 21,691,371 (GRCm39) T671A probably damaging Het
Fndc3b T A 3: 27,610,266 (GRCm39) probably null Het
Gprc6a T A 10: 51,491,080 (GRCm39) K819* probably null Het
Gucy2g T A 19: 55,205,734 (GRCm39) T709S possibly damaging Het
Gxylt1 A T 15: 93,152,436 (GRCm39) probably benign Het
Idh2 A G 7: 79,747,570 (GRCm39) S317P probably damaging Het
Ifi30 T C 8: 71,216,421 (GRCm39) probably null Het
Ifna16 G A 4: 88,594,867 (GRCm39) A76V probably benign Het
Itpr2 C T 6: 146,246,638 (GRCm39) E1127K probably damaging Het
Kank4 A G 4: 98,667,457 (GRCm39) V330A probably benign Het
Kri1 T C 9: 21,192,401 (GRCm39) Y131C probably damaging Het
Krt71 T A 15: 101,646,868 (GRCm39) H280L possibly damaging Het
Lox A T 18: 52,653,898 (GRCm39) H399Q possibly damaging Het
Mapt A G 11: 104,196,224 (GRCm39) M446V probably damaging Het
Mpp7 A T 18: 7,403,180 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,461,708 (GRCm39) V1447A probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1b A T 1: 51,821,148 (GRCm39) I451N probably damaging Het
Nubp1 A G 16: 10,238,981 (GRCm39) T199A probably damaging Het
Olfml2b A G 1: 170,496,320 (GRCm39) H317R probably benign Het
Pard3b A T 1: 62,676,979 (GRCm39) Y1170F probably damaging Het
Pear1 T C 3: 87,661,665 (GRCm39) D536G probably damaging Het
Pira6 A G 7: 4,284,482 (GRCm39) noncoding transcript Het
Pkhd1l1 T A 15: 44,437,021 (GRCm39) Y3460N probably damaging Het
Plxna2 G T 1: 194,326,204 (GRCm39) R46L probably benign Het
Rnf168 T A 16: 32,096,991 (GRCm39) probably null Het
Rpl14 C G 9: 120,401,167 (GRCm39) F3L possibly damaging Het
Scara5 C T 14: 66,000,166 (GRCm39) probably benign Het
Sh3rf1 T A 8: 61,782,286 (GRCm39) Y143N possibly damaging Het
Slc4a8 T A 15: 100,687,727 (GRCm39) I288N probably damaging Het
Synpr G A 14: 13,563,024 (GRCm38) A86T probably damaging Het
Ttc38 C A 15: 85,725,690 (GRCm39) F184L probably damaging Het
Wdpcp A G 11: 21,661,638 (GRCm39) I303M probably damaging Het
Zc3h12d G A 10: 7,743,678 (GRCm39) A483T probably benign Het
Zfp106 C A 2: 120,362,094 (GRCm39) K1008N probably damaging Het
Zfp68 G A 5: 138,606,041 (GRCm39) T94I probably benign Het
Zfp867 C T 11: 59,354,691 (GRCm39) A213T possibly damaging Het
Zkscan3 A T 13: 21,579,090 (GRCm39) probably null 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
IGL01084: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
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 2012-12-21