Incidental Mutation 'IGL03264:Cacng3'
ID414999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacng3
Ensembl Gene ENSMUSG00000066189
Gene Namecalcium channel, voltage-dependent, gamma subunit 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL03264
Quality Score
Status
Chromosome7
Chromosomal Location122670492-122769393 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 122671957 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 62 (G62W)
Ref Sequence ENSEMBL: ENSMUSP00000138495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084615] [ENSMUST00000182095] [ENSMUST00000182563]
Predicted Effect probably damaging
Transcript: ENSMUST00000084615
AA Change: G62W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081664
Gene: ENSMUSG00000066189
AA Change: G62W

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 196 1.3e-52 PFAM
Pfam:Claudin_2 18 196 1.4e-22 PFAM
low complexity region 223 245 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000182095
AA Change: G62W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138755
Gene: ENSMUSG00000066189
AA Change: G62W

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 79 1.2e-15 PFAM
Pfam:Claudin_2 18 169 3.1e-23 PFAM
Pfam:PMP22_Claudin 72 168 2e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182563
AA Change: G62W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138495
Gene: ENSMUSG00000066189
AA Change: G62W

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 99 1.4e-23 PFAM
Pfam:Claudin_2 18 112 2.6e-11 PFAM
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 I 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. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]
PHENOTYPE: Male mice homozygous for disruptions in this gene have elevated cholesterol and HDL levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A T 3: 37,002,635 I3152F probably damaging Het
9130019O22Rik A G 7: 127,385,639 probably benign Het
Abcg1 T G 17: 31,064,454 S38A probably benign Het
Alkbh1 T G 12: 87,431,427 D238A probably damaging Het
Arhgef17 A T 7: 100,880,013 D1531E probably benign Het
Cdh22 T C 2: 165,116,173 I625V probably benign Het
Ces5a T C 8: 93,502,270 N444S possibly damaging Het
Chst13 A T 6: 90,309,211 Y256* probably null Het
Clcn5 T A X: 7,178,374 H177L probably benign Het
Dars G A 1: 128,413,690 R63C probably damaging Het
Dcun1d4 A G 5: 73,520,229 S84G probably benign Het
Dcxr T C 11: 120,726,472 N82D probably damaging Het
Eef1a2 C A 2: 181,148,734 K376N possibly damaging Het
Efhc1 G A 1: 20,967,491 M297I probably benign Het
Etfb G T 7: 43,452,473 V64F probably damaging Het
Fam135b A C 15: 71,462,788 N852K probably benign Het
Gigyf2 T C 1: 87,449,068 probably benign Het
Gm12794 A T 4: 101,941,132 Q100L probably damaging Het
Gria4 T C 9: 4,513,288 K274E probably benign Het
Itgae A G 11: 73,115,574 E356G possibly damaging Het
Med12l C T 3: 59,301,367 Q2139* probably null Het
Mrvi1 A T 7: 110,926,346 S200T probably benign Het
Plxna4 A G 6: 32,178,402 F1536L possibly damaging Het
Rmnd5a A G 6: 71,393,135 I389T probably damaging Het
Rnf128 T G X: 139,611,236 V144G probably damaging Het
Rpgrip1 A G 14: 52,140,652 T486A possibly damaging Het
Rps6kc1 T C 1: 190,871,829 T199A probably benign Het
Skint5 T A 4: 113,486,657 D1338V unknown Het
Slc35g2 A T 9: 100,552,646 I324K possibly damaging Het
Slc4a5 G A 6: 83,261,525 R225H probably damaging Het
Srgap3 A T 6: 112,816,675 H113Q probably damaging Het
Stpg2 A C 3: 139,309,209 K378N possibly damaging Het
Svep1 A G 4: 58,066,422 probably benign Het
Utp11 T C 4: 124,679,728 K218E probably damaging Het
Vmn2r53 T A 7: 12,581,892 I667F possibly damaging Het
Wdfy3 A G 5: 101,900,150 L1763P probably damaging Het
Wnt2 A G 6: 17,989,960 Y313H probably benign Het
Zfp638 T C 6: 83,946,247 S676P probably benign Het
Other mutations in Cacng3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Cacng3 APN 7 122671946 missense possibly damaging 0.81
IGL02361:Cacng3 APN 7 122671946 missense possibly damaging 0.81
IGL02576:Cacng3 APN 7 122671910 missense probably benign 0.00
R0200:Cacng3 UTSW 7 122671785 nonsense probably null
R0411:Cacng3 UTSW 7 122768572 missense probably damaging 0.98
R0662:Cacng3 UTSW 7 122768359 missense probably damaging 1.00
R1565:Cacng3 UTSW 7 122768401 missense probably damaging 0.99
R2902:Cacng3 UTSW 7 122754527 missense possibly damaging 0.70
R4761:Cacng3 UTSW 7 122768664 missense probably benign 0.05
R4807:Cacng3 UTSW 7 122754509 missense probably benign 0.05
R5847:Cacng3 UTSW 7 122762309 missense possibly damaging 0.61
R6759:Cacng3 UTSW 7 122762324 critical splice donor site probably null
R7817:Cacng3 UTSW 7 122768599 missense probably damaging 1.00
Posted On2016-08-02