Incidental Mutation 'R5596:Cacng7'
ID 437831
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 043148-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5596 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 3381471-3416737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3415420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 262 (I262F)
Ref Sequence ENSEMBL: ENSMUSP00000090567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092891]
AlphaFold P62956
Predicted Effect probably benign
Transcript: ENSMUST00000092891
AA Change: I262F

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090567
Gene: ENSMUSG00000069806
AA Change: I262F

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: ENSMUST00000203497
Meta Mutation Damage Score 0.0602 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 120,000,972 (GRCm39) M1503V possibly damaging Het
Abraxas1 A T 5: 100,966,403 (GRCm39) V53D probably damaging Het
Bub1b T C 2: 118,461,463 (GRCm39) S672P probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Capzb T G 4: 139,006,738 (GRCm39) probably benign Het
Ccdc149 A G 5: 52,561,493 (GRCm39) V229A probably damaging Het
Cfap69 A G 5: 5,676,020 (GRCm39) L225P probably damaging Het
Cftr A G 6: 18,268,095 (GRCm39) T685A probably benign Het
Col12a1 G A 9: 79,611,041 (GRCm39) T177M probably damaging Het
Creb3l3 T G 10: 80,920,881 (GRCm39) D383A probably benign Het
Cyp2j8 T A 4: 96,395,578 (GRCm39) I16F probably benign Het
Dnah5 G T 15: 28,343,754 (GRCm39) A2385S probably damaging Het
Enox1 A G 14: 77,816,493 (GRCm39) I158V probably benign Het
Erich3 A T 3: 154,433,033 (GRCm39) T139S probably damaging Het
Fam186b A T 15: 99,169,170 (GRCm39) S926T possibly damaging Het
Gjd2 C A 2: 113,841,965 (GRCm39) V171F possibly damaging Het
Helz2 A T 2: 180,879,082 (GRCm39) probably benign Het
Herc1 T TTN 9: 66,341,345 (GRCm39) probably benign Het
Impg1 A T 9: 80,252,500 (GRCm39) V483E probably benign Het
Irx4 A G 13: 73,415,799 (GRCm39) N196S probably damaging Het
Kcnip1 T C 11: 33,580,597 (GRCm39) D213G probably damaging Het
Lmntd1 T A 6: 145,359,140 (GRCm39) T191S probably benign Het
Med12l T A 3: 59,159,771 (GRCm39) N1273K probably benign Het
Musk T C 4: 58,373,036 (GRCm39) C654R probably damaging Het
Nlrp4d A T 7: 10,115,951 (GRCm39) S274T noncoding transcript Het
Omd A G 13: 49,745,814 (GRCm39) H408R probably benign Het
Pbld2 C T 10: 62,907,791 (GRCm39) A219V probably damaging Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Pramel32 C T 4: 88,548,292 (GRCm39) E38K probably damaging Het
Ptpn1 T C 2: 167,816,683 (GRCm39) I246T probably damaging Het
Sap18b G T 8: 96,551,998 (GRCm39) A3S unknown Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Sstr4 G T 2: 148,237,652 (GRCm39) V88F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tmcc2 T C 1: 132,288,221 (GRCm39) N489D probably damaging Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Tnxb T A 17: 34,907,778 (GRCm39) V1274E probably damaging Het
Ube3b T A 5: 114,544,221 (GRCm39) probably null Het
Vwa5a A T 9: 38,633,874 (GRCm39) I26F probably damaging 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
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'- CTTGTTCACCAAGCGCTACG -3'
(R):5'- TTGGAATTAACCGGTGGGGA -3'

Sequencing Primer
(F):5'- CTACGCGGAGGAAGAGATGTATC -3'
(R):5'- TTTGGAAGTATAATGAATCAGTGAGG -3'
Posted On 2016-10-26