Incidental Mutation 'R5216:Cacng5'
ID 403490
Institutional Source Beutler Lab
Gene Symbol Cacng5
Ensembl Gene ENSMUSG00000040373
Gene Name calcium channel, voltage-dependent, gamma subunit 5
Synonyms
MMRRC Submission 042789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5216 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 107765431-107805881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107768315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 231 (F231L)
Ref Sequence ENSEMBL: ENSMUSP00000102353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039071] [ENSMUST00000106742]
AlphaFold Q8VHW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000039071
AA Change: F231L

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047888
Gene: ENSMUSG00000040373
AA Change: F231L

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: F231L

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102353
Gene: ENSMUSG00000040373
AA Change: F231L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 3.8e-25 PFAM
Pfam:Claudin_2 18 198 7e-22 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,107,947 (GRCm39) V84D probably damaging Het
Abcb1b T C 5: 8,863,705 (GRCm39) V220A probably benign Het
Actg1 A T 11: 120,238,580 (GRCm39) M82K probably damaging Het
Ahi1 T C 10: 20,835,975 (GRCm39) S103P probably benign Het
Aldh1b1 G T 4: 45,803,652 (GRCm39) G397C probably damaging Het
Arhgef3 A G 14: 27,123,799 (GRCm39) T507A probably benign Het
Atg7 A G 6: 114,701,910 (GRCm39) D682G probably damaging Het
Atp13a3 A G 16: 30,159,102 (GRCm39) I783T probably damaging Het
Atp9a T C 2: 168,516,808 (GRCm39) I362V probably benign Het
Birc6 T A 17: 74,920,465 (GRCm39) I168K probably damaging Het
Brca2 T A 5: 150,466,445 (GRCm39) Y2070N probably damaging Het
Cabp7 A G 11: 4,688,873 (GRCm39) I199T probably damaging Het
Cngb3 T A 4: 19,415,729 (GRCm39) V413D possibly damaging Het
Col24a1 G A 3: 145,021,071 (GRCm39) E481K possibly damaging Het
Cspg4b G A 13: 113,478,947 (GRCm39) C1497Y probably benign Het
Ctr9 T A 7: 110,644,665 (GRCm39) I560N possibly damaging Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Fat3 T C 9: 16,288,833 (GRCm39) D230G probably damaging Het
Gramd4 G A 15: 86,018,986 (GRCm39) probably null Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Hoxd1 A T 2: 74,594,695 (GRCm39) N317Y probably damaging Het
Kcnc4 A G 3: 107,346,757 (GRCm39) S623P probably benign Het
Klhl20 A G 1: 160,921,249 (GRCm39) probably null Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lpin2 C T 17: 71,549,755 (GRCm39) S640L probably damaging Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,026,736 (GRCm39) probably benign Het
Mgll T A 6: 88,743,311 (GRCm39) C110* probably null Het
Mmp14 A G 14: 54,675,120 (GRCm39) N251D possibly damaging Het
Or1e33 A T 11: 73,738,262 (GRCm39) S230T probably damaging Het
Or52k2 A G 7: 102,254,028 (GRCm39) T156A probably benign Het
Or7e166 T A 9: 19,624,585 (GRCm39) V154E probably benign Het
Pfkl T G 10: 77,845,504 (GRCm39) D5A probably damaging Het
Pik3c3 A G 18: 30,406,029 (GRCm39) Y9C probably damaging Het
Pkhd1l1 T A 15: 44,359,043 (GRCm39) Y417* probably null Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Sulf1 T A 1: 12,867,098 (GRCm39) M94K probably benign Het
Synrg A G 11: 83,873,022 (GRCm39) T157A probably damaging Het
Syt1 T C 10: 108,478,118 (GRCm39) N102S probably benign Het
Tnip2 C T 5: 34,661,149 (GRCm39) R101H probably damaging Het
Trmt2a A G 16: 18,070,048 (GRCm39) D421G probably benign Het
Vmn1r67 A G 7: 10,181,090 (GRCm39) D57G probably benign Het
Wnt2b A G 3: 104,868,661 (GRCm39) L43P possibly damaging Het
Zfp113 C T 5: 138,148,977 (GRCm39) D56N probably damaging Het
Zfp184 C T 13: 22,134,406 (GRCm39) L69F probably damaging Het
Zyx T C 6: 42,333,466 (GRCm39) V464A probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGGTCAAGTAACAATGGCTAAGC -3'
(R):5'- AGAAGCCCCTATCAGTGAGC -3'

Sequencing Primer
(F):5'- TGTCCAGCCATCCACAGTTCAG -3'
(R):5'- ATCAGTGAGCTCTCCTCTGC -3'
Posted On 2016-07-22