Incidental Mutation 'R5357:Cacng7'
ID 434539
Institutional Source Beutler Lab
Gene Symbol Cacng7
Ensembl Gene ENSMUSG00000069806
Gene Name calcium channel, voltage-dependent, gamma subunit 7
Synonyms TARP gamma 7
MMRRC Submission 042936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5357 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 3381471-3416737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3387452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 112 (F112L)
Ref Sequence ENSEMBL: ENSMUSP00000090567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092891]
AlphaFold P62956
Predicted Effect probably benign
Transcript: ENSMUST00000092891
AA Change: F112L

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000090567
Gene: ENSMUSG00000069806
AA Change: F112L

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 7 196 4.4e-22 PFAM
Pfam:Claudin_2 18 197 2.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203497
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.7%
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. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and indistinguishable from wild-type controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,463 (GRCm39) V206A possibly damaging Het
5730522E02Rik A T 11: 25,598,148 (GRCm39) C102* probably null Het
Brsk2 C A 7: 141,538,248 (GRCm39) D131E possibly damaging Het
Ceacam12 T A 7: 17,811,384 (GRCm39) C282* probably null Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Dyrk1b T C 7: 27,884,743 (GRCm39) V326A possibly damaging Het
Eloa T C 4: 135,736,559 (GRCm39) D563G probably benign Het
Evi5l A G 8: 4,253,623 (GRCm39) K489R possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Galntl6 T C 8: 58,337,497 (GRCm39) E326G probably damaging Het
Gm1758 G A 16: 14,320,218 (GRCm39) noncoding transcript Het
Grm8 A T 6: 27,762,418 (GRCm39) L269Q probably damaging Het
Hsd17b12 A G 2: 93,863,990 (GRCm39) I284T possibly damaging Het
Hyal6 T A 6: 24,734,517 (GRCm39) M150K probably benign Het
Ift80 T A 3: 68,898,113 (GRCm39) Q74L possibly damaging Het
Krt76 T C 15: 101,795,820 (GRCm39) K450R probably benign Het
Larp1b A G 3: 40,978,950 (GRCm39) E2G probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Map2k7 A T 8: 4,294,461 (GRCm39) H253L probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mmp2 A G 8: 93,559,780 (GRCm39) T248A possibly damaging Het
Mt1 T A 8: 94,906,732 (GRCm39) C33S probably damaging Het
Obox5 T A 7: 15,491,463 (GRCm39) M1K probably null Het
Pak4 A G 7: 28,263,831 (GRCm39) S302P probably damaging Het
Pcsk2 T C 2: 143,415,384 (GRCm39) Y66H probably benign Het
Pgm3 G A 9: 86,438,310 (GRCm39) R451* probably null Het
Phf10 A T 17: 15,174,275 (GRCm39) probably null Het
Pkd1 T G 17: 24,784,764 (GRCm39) V402G probably damaging Het
Plekha4 G T 7: 45,184,195 (GRCm39) V61F probably damaging Het
Ppfia2 G A 10: 106,740,708 (GRCm39) probably null Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Skil A G 3: 31,167,700 (GRCm39) H444R probably benign Het
Tcn2 T G 11: 3,876,017 (GRCm39) D137A possibly damaging Het
Tnks2 G A 19: 36,826,690 (GRCm39) silent Het
Trh T A 6: 92,219,815 (GRCm39) D167V probably benign Het
Tshz1 C T 18: 84,033,205 (GRCm39) G401D probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl T A 7: 103,798,138 (GRCm39) Q453L probably damaging Het
Vmn2r111 T A 17: 22,767,083 (GRCm39) K805* probably null Het
Wnt16 T G 6: 22,291,231 (GRCm39) probably benign Het
Zc3h11a A T 1: 133,550,780 (GRCm39) V665E probably damaging Het
Zfp456 A T 13: 67,520,328 (GRCm39) M63K possibly damaging Het
Zzef1 C T 11: 72,734,159 (GRCm39) Q584* probably null Het
Other mutations in Cacng7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Cacng7 APN 7 3,414,547 (GRCm39) missense probably damaging 1.00
R1006:Cacng7 UTSW 7 3,415,445 (GRCm39) missense possibly damaging 0.87
R3115:Cacng7 UTSW 7 3,387,450 (GRCm39) missense probably benign 0.16
R4610:Cacng7 UTSW 7 3,385,207 (GRCm39) missense probably benign 0.07
R5596:Cacng7 UTSW 7 3,415,420 (GRCm39) missense probably benign 0.21
R5735:Cacng7 UTSW 7 3,387,539 (GRCm39) missense probably benign 0.11
R6222:Cacng7 UTSW 7 3,385,128 (GRCm39) missense probably damaging 1.00
R7187:Cacng7 UTSW 7 3,385,183 (GRCm39) missense probably damaging 1.00
R8086:Cacng7 UTSW 7 3,387,518 (GRCm39) missense probably benign 0.07
R8485:Cacng7 UTSW 7 3,414,541 (GRCm39) missense probably benign 0.04
R8675:Cacng7 UTSW 7 3,385,221 (GRCm39) missense probably benign
R8805:Cacng7 UTSW 7 3,415,298 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCAAATCAAGGGTGTGGC -3'
(R):5'- CGCTCAGTGGAAGAAGGTTC -3'

Sequencing Primer
(F):5'- TCCAGTCAGCAGAGGACCTAG -3'
(R):5'- AAGAAGGTTCTTCCCCTAGCTC -3'
Posted On 2016-10-06