Incidental Mutation 'R6222:Cacng7'
ID 504077
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 044353-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6222 (G1)
Quality Score 171.009
Status Not validated
Chromosome 7
Chromosomal Location 3381471-3416737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3385128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 10 (T10A)
Ref Sequence ENSEMBL: ENSMUSP00000090567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092891]
AlphaFold P62956
Predicted Effect probably damaging
Transcript: ENSMUST00000092891
AA Change: T10A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090567
Gene: ENSMUSG00000069806
AA Change: T10A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T C 14: 35,531,923 (GRCm39) *217W probably null Het
Abcc3 A G 11: 94,259,431 (GRCm39) F337L probably benign Het
Abcc4 T A 14: 118,767,368 (GRCm39) H903L probably damaging Het
Akap7 T A 10: 25,159,844 (GRCm39) K119* probably null Het
Als2 T C 1: 59,219,284 (GRCm39) D1222G probably benign Het
Ano4 T C 10: 88,863,084 (GRCm39) Y296C probably damaging Het
Arid1b A G 17: 5,377,922 (GRCm39) probably null Het
Arl10 T C 13: 54,726,644 (GRCm39) F141L probably damaging Het
B130006D01Rik T C 11: 95,616,988 (GRCm39) probably benign Het
Bbs9 T A 9: 22,479,147 (GRCm39) S197T possibly damaging Het
Bicd1 A T 6: 149,414,463 (GRCm39) D392V probably damaging Het
Bmi1 T A 2: 18,688,513 (GRCm39) M168K possibly damaging Het
C7 A T 15: 5,041,423 (GRCm39) D494E possibly damaging Het
Cacna1s A T 1: 136,032,360 (GRCm39) N1221I probably benign Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdpf1 T C 15: 85,691,643 (GRCm39) R108G possibly damaging Het
Ceacam5 A T 7: 17,479,472 (GRCm39) K196N probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Cma2 T C 14: 56,210,649 (GRCm39) I112T possibly damaging Het
Cntnap4 A G 8: 113,569,353 (GRCm39) S916G probably damaging Het
Cwf19l2 T A 9: 3,454,569 (GRCm39) Y627* probably null Het
Fam204a A G 19: 60,188,400 (GRCm39) probably null Het
Galnt1 T A 18: 24,397,591 (GRCm39) probably null Het
Gbe1 T C 16: 70,325,900 (GRCm39) probably null Het
Gm6871 C T 7: 41,196,006 (GRCm39) D244N probably damaging Het
Gna15 T C 10: 81,347,880 (GRCm39) T189A probably damaging Het
Igsf10 C T 3: 59,226,336 (GRCm39) D2446N possibly damaging Het
Ing2 T C 8: 48,121,966 (GRCm39) K194R possibly damaging Het
Ino80d G A 1: 63,097,684 (GRCm39) H737Y probably damaging Het
Izumo4 C T 10: 80,538,885 (GRCm39) R83W probably damaging Het
Kcnt1 G A 2: 25,782,522 (GRCm39) V219M probably damaging Het
Kiz A T 2: 146,732,981 (GRCm39) S386C probably damaging Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Or2ad1 T C 13: 21,327,047 (GRCm39) Y60C probably damaging Het
Or4c100 T C 2: 88,329,614 (GRCm39) Y62H probably benign Het
Pdzd2 T C 15: 12,374,652 (GRCm39) K1828E probably damaging Het
Prl3a1 T C 13: 27,460,097 (GRCm39) F194L probably benign Het
Prss1l A T 6: 41,374,100 (GRCm39) Y234F probably damaging Het
Reg1 A T 6: 78,404,357 (GRCm39) Q77L probably benign Het
Ruvbl2 G T 7: 45,074,149 (GRCm39) D248E probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Serpinb5 T A 1: 106,798,070 (GRCm39) C20S probably benign Het
Sh2d4b A C 14: 40,542,694 (GRCm39) S361A probably damaging Het
Snx2 T A 18: 53,332,896 (GRCm39) L190* probably null Het
Sorcs3 A T 19: 48,748,296 (GRCm39) Y755F possibly damaging Het
Styxl2 G T 1: 165,926,214 (GRCm39) Q1133K probably benign Het
Tiam2 A G 17: 3,503,613 (GRCm39) Q930R probably damaging Het
Tll1 C A 8: 64,551,568 (GRCm39) G271V probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Tmem181a T C 17: 6,351,192 (GRCm39) V367A probably benign Het
Umodl1 T C 17: 31,221,866 (GRCm39) probably null Het
Virma C T 4: 11,527,820 (GRCm39) A1187V probably damaging Het
Wdr53 T C 16: 32,075,482 (GRCm39) V229A probably benign Het
Zcchc10 T C 11: 53,223,289 (GRCm39) probably benign 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
R5357:Cacng7 UTSW 7 3,387,452 (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
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'- ATTTGGAGTCAACAATTAGCGTCTC -3'
(R):5'- TGCAAAGAAGCAGACTCTCC -3'

Sequencing Primer
(F):5'- GGCTGTTCATTACACAGAATCAGGC -3'
(R):5'- ACTCTCCAGAGGCCAGC -3'
Posted On 2018-02-28