Incidental Mutation 'IGL02361:Cacng3'
ID290502
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 #IGL02361
Quality Score
Status
Chromosome7
Chromosomal Location122670492-122769393 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 122671946 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 58 (M58R)
Ref Sequence ENSEMBL: ENSMUSP00000081664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084615] [ENSMUST00000182095] [ENSMUST00000182563]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084615
AA Change: M58R

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081664
Gene: ENSMUSG00000066189
AA Change: M58R

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 benign
Transcript: ENSMUST00000182095
AA Change: M58R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138755
Gene: ENSMUSG00000066189
AA Change: M58R

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 possibly damaging
Transcript: ENSMUST00000182563
AA Change: M58R

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138495
Gene: ENSMUSG00000066189
AA Change: M58R

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp1 A C 6: 55,345,513 L164F possibly damaging Het
Bfsp1 T C 2: 143,831,987 E261G probably damaging Het
Brinp2 A G 1: 158,247,178 C458R probably damaging Het
Cfap43 A T 19: 47,897,413 C254* probably null Het
Cnga1 T C 5: 72,616,718 probably null Het
Dis3 A T 14: 99,079,712 Y765* probably null Het
Dpep1 T A 8: 123,200,218 S260R probably benign Het
Elmod1 A G 9: 53,931,558 L106P probably damaging Het
Fut10 A G 8: 31,201,370 Y81C probably damaging Het
Fzd10 T A 5: 128,601,868 D217E possibly damaging Het
Gap43 T C 16: 42,340,508 probably benign Het
Gigyf1 T C 5: 137,519,727 probably benign Het
Gm1840 T C 8: 5,640,896 noncoding transcript Het
Gpc5 C T 14: 115,133,287 R175* probably null Het
Kcna1 C A 6: 126,642,906 Q150H probably damaging Het
Lama5 A T 2: 180,193,884 C1225* probably null Het
Lrrc25 A T 8: 70,617,827 D86V probably benign Het
Madd A T 2: 91,162,198 V1043E probably benign Het
Mov10 A T 3: 104,804,121 probably benign Het
Mzb1 T A 18: 35,649,197 H46L possibly damaging Het
Nek10 A T 14: 14,843,856 Q193L probably damaging Het
Nos3 A T 5: 24,367,623 I187F probably damaging Het
Olfr1231 T A 2: 89,303,182 M137L probably benign Het
Olfr473 T A 7: 107,934,277 Y252* probably null Het
Olfr822 A G 10: 130,075,274 Y288C probably damaging Het
Pgap1 T C 1: 54,512,816 T486A probably benign Het
Prdm9 C T 17: 15,562,847 V58M probably damaging Het
Prkd2 A G 7: 16,847,658 Y146C probably damaging Het
Psmd9 G T 5: 123,248,316 R175I probably damaging Het
Pxdn A G 12: 29,999,189 D618G probably damaging Het
Rgs6 A T 12: 82,618,619 probably benign Het
Rrm2 G T 12: 24,711,439 probably benign Het
Shank3 T C 15: 89,504,333 V376A probably damaging Het
Slc5a10 A G 11: 61,719,840 probably null Het
Slfn3 A T 11: 83,213,242 Q313L possibly damaging Het
Sptbn1 A T 11: 30,110,783 F2062L probably damaging Het
Tbc1d10a T C 11: 4,215,047 V500A probably benign Het
Tcea1 T C 1: 4,896,347 probably benign Het
Thsd7a T C 6: 12,348,193 probably benign Het
Tm9sf4 C T 2: 153,187,650 T173M probably benign Het
Tmtc2 T C 10: 105,271,526 T709A probably benign Het
Zfp385b T C 2: 77,450,303 E97G probably damaging Het
Zim1 A T 7: 6,682,874 probably null Het
Other mutations in Cacng3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Cacng3 APN 7 122671946 missense possibly damaging 0.81
IGL02576:Cacng3 APN 7 122671910 missense probably benign 0.00
IGL03264:Cacng3 APN 7 122671957 missense probably damaging 1.00
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 On2015-04-16