Incidental Mutation 'IGL00585:Cacng7'
ID6316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacng7
Ensembl Gene ENSMUSG00000069806
Gene Namecalcium channel, voltage-dependent, gamma subunit 7
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00585
Quality Score
Status
Chromosome7
Chromosomal Location3332955-3368221 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3366031 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 170 (Y170C)
Ref Sequence ENSEMBL: ENSMUSP00000090567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092891]
Predicted Effect probably damaging
Transcript: ENSMUST00000092891
AA Change: Y170C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090567
Gene: ENSMUSG00000069806
AA Change: Y170C

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
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,300,320 I664F probably damaging Het
Abcg4 A T 9: 44,281,623 M142K probably benign Het
Afdn A G 17: 13,884,628 T1198A probably damaging Het
Angptl2 T C 2: 33,246,227 S475P probably damaging Het
Ap3s2 T C 7: 79,916,076 E34G probably benign Het
C1qtnf9 T C 14: 60,779,993 F324S probably damaging Het
Ceacam18 G A 7: 43,637,011 V103M possibly damaging Het
Chrnb1 G A 11: 69,793,916 P144S probably damaging Het
Chuk T C 19: 44,078,312 H652R probably damaging Het
Ckap5 C T 2: 91,619,825 L1948F probably damaging Het
Clstn1 A T 4: 149,638,312 H469L probably benign Het
Csf2rb2 C T 15: 78,284,847 G594S possibly damaging Het
Ctsq A T 13: 61,037,127 D248E probably benign Het
Ep400 A T 5: 110,755,905 I276K possibly damaging Het
Gbf1 G A 19: 46,284,249 probably null Het
Gldn T A 9: 54,338,464 I433N probably damaging Het
Gm136 T A 4: 34,752,322 E69V probably damaging Het
Gm28177 T C 1: 52,082,579 probably null Het
Gtf2h2 A G 13: 100,480,998 probably benign Het
Ints12 T C 3: 133,100,809 probably null Het
Ltbp4 T C 7: 27,326,733 D615G probably damaging Het
Mgme1 C T 2: 144,271,989 P4S probably benign Het
Nae1 A G 8: 104,526,278 probably null Het
Nup133 G A 8: 123,909,994 A956V probably damaging Het
Oacyl T A 18: 65,749,640 M529K possibly damaging Het
Osbpl1a T A 18: 12,757,626 E519V possibly damaging Het
Pacs1 A T 19: 5,153,698 V333E probably damaging Het
Pik3c3 T G 18: 30,303,078 probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppp6r3 A G 19: 3,490,826 C431R probably damaging Het
Pprc1 T C 19: 46,062,648 S206P possibly damaging Het
Rab20 A G 8: 11,454,212 Y163H probably benign Het
Sde2 T A 1: 180,855,818 C46S possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Spata20 T G 11: 94,479,117 L784F probably damaging Het
Tnnt1 A C 7: 4,507,550 M224R possibly damaging Het
Trank1 T C 9: 111,349,290 F349L possibly damaging Het
Ttf1 T C 2: 29,073,883 probably benign Het
Usp54 T A 14: 20,573,837 S651C probably damaging Het
Vps45 A G 3: 96,000,066 *571R probably null Het
Yod1 G A 1: 130,719,133 G249E probably damaging Het
Ythdc2 A G 18: 44,864,361 Y340C probably damaging Het
Zfp366 G A 13: 99,246,572 probably benign Het
Zfp648 T A 1: 154,204,189 D31E possibly damaging Het
Other mutations in Cacng7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1006:Cacng7 UTSW 7 3366929 missense possibly damaging 0.87
R3115:Cacng7 UTSW 7 3338934 missense probably benign 0.16
R4610:Cacng7 UTSW 7 3336691 missense probably benign 0.07
R5357:Cacng7 UTSW 7 3338936 missense probably benign 0.07
R5596:Cacng7 UTSW 7 3366904 missense probably benign 0.21
R5735:Cacng7 UTSW 7 3339023 missense probably benign 0.11
R6222:Cacng7 UTSW 7 3336612 missense probably damaging 1.00
R7187:Cacng7 UTSW 7 3336667 missense probably damaging 1.00
R8086:Cacng7 UTSW 7 3339002 missense probably benign 0.07
Posted On2012-04-20