Incidental Mutation 'IGL02361:Cacng3'
ID 290502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacng3
Ensembl Gene ENSMUSG00000066189
Gene Name calcium channel, voltage-dependent, gamma subunit 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02361
Quality Score
Status
Chromosome 7
Chromosomal Location 122270967-122368616 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 122271169 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JJV5
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: 55,322,498 (GRCm39) L164F possibly damaging Het
Bfsp1 T C 2: 143,673,907 (GRCm39) E261G probably damaging Het
Brinp2 A G 1: 158,074,748 (GRCm39) C458R probably damaging Het
Cfap43 A T 19: 47,885,852 (GRCm39) C254* probably null Het
Cnga1 T C 5: 72,774,061 (GRCm39) probably null Het
Dis3 A T 14: 99,317,148 (GRCm39) Y765* probably null Het
Dpep1 T A 8: 123,926,957 (GRCm39) S260R probably benign Het
Elmod1 A G 9: 53,838,842 (GRCm39) L106P probably damaging Het
Fut10 A G 8: 31,691,398 (GRCm39) Y81C probably damaging Het
Fzd10 T A 5: 128,678,932 (GRCm39) D217E possibly damaging Het
Gap43 T C 16: 42,160,871 (GRCm39) probably benign Het
Gigyf1 T C 5: 137,517,989 (GRCm39) probably benign Het
Gpc5 C T 14: 115,370,699 (GRCm39) R175* probably null Het
Gpi-ps T C 8: 5,690,896 (GRCm39) noncoding transcript Het
Kcna1 C A 6: 126,619,869 (GRCm39) Q150H probably damaging Het
Lama5 A T 2: 179,835,677 (GRCm39) C1225* probably null Het
Lrrc25 A T 8: 71,070,477 (GRCm39) D86V probably benign Het
Madd A T 2: 90,992,543 (GRCm39) V1043E probably benign Het
Mov10 A T 3: 104,711,437 (GRCm39) probably benign Het
Mzb1 T A 18: 35,782,250 (GRCm39) H46L possibly damaging Het
Nek10 A T 14: 14,843,856 (GRCm38) Q193L probably damaging Het
Nos3 A T 5: 24,572,621 (GRCm39) I187F probably damaging Het
Or4c1 T A 2: 89,133,526 (GRCm39) M137L probably benign Het
Or5p53 T A 7: 107,533,484 (GRCm39) Y252* probably null Het
Or6c69c A G 10: 129,911,143 (GRCm39) Y288C probably damaging Het
Pgap1 T C 1: 54,551,975 (GRCm39) T486A probably benign Het
Prdm9 C T 17: 15,783,109 (GRCm39) V58M probably damaging Het
Prkd2 A G 7: 16,581,583 (GRCm39) Y146C probably damaging Het
Psmd9 G T 5: 123,386,379 (GRCm39) R175I probably damaging Het
Pxdn A G 12: 30,049,188 (GRCm39) D618G probably damaging Het
Rgs6 A T 12: 82,665,393 (GRCm39) probably benign Het
Rrm2 G T 12: 24,761,438 (GRCm39) probably benign Het
Shank3 T C 15: 89,388,536 (GRCm39) V376A probably damaging Het
Slc5a10 A G 11: 61,610,666 (GRCm39) probably null Het
Slfn3 A T 11: 83,104,068 (GRCm39) Q313L possibly damaging Het
Sptbn1 A T 11: 30,060,783 (GRCm39) F2062L probably damaging Het
Tbc1d10a T C 11: 4,165,047 (GRCm39) V500A probably benign Het
Tcea1 T C 1: 4,966,570 (GRCm39) probably benign Het
Thsd7a T C 6: 12,348,192 (GRCm39) probably benign Het
Tm9sf4 C T 2: 153,029,570 (GRCm39) T173M probably benign Het
Tmtc2 T C 10: 105,107,387 (GRCm39) T709A probably benign Het
Zfp385b T C 2: 77,280,647 (GRCm39) E97G probably damaging Het
Zim1 A T 7: 6,685,873 (GRCm39) probably null Het
Other mutations in Cacng3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Cacng3 APN 7 122,271,169 (GRCm39) missense possibly damaging 0.81
IGL02576:Cacng3 APN 7 122,271,133 (GRCm39) missense probably benign 0.00
IGL03264:Cacng3 APN 7 122,271,180 (GRCm39) missense probably damaging 1.00
R0200:Cacng3 UTSW 7 122,271,008 (GRCm39) nonsense probably null
R0411:Cacng3 UTSW 7 122,367,795 (GRCm39) missense probably damaging 0.98
R0662:Cacng3 UTSW 7 122,367,582 (GRCm39) missense probably damaging 1.00
R1565:Cacng3 UTSW 7 122,367,624 (GRCm39) missense probably damaging 0.99
R2902:Cacng3 UTSW 7 122,353,750 (GRCm39) missense possibly damaging 0.70
R4761:Cacng3 UTSW 7 122,367,887 (GRCm39) missense probably benign 0.05
R4807:Cacng3 UTSW 7 122,353,732 (GRCm39) missense probably benign 0.05
R5847:Cacng3 UTSW 7 122,361,532 (GRCm39) missense possibly damaging 0.61
R6759:Cacng3 UTSW 7 122,361,547 (GRCm39) critical splice donor site probably null
R7817:Cacng3 UTSW 7 122,367,822 (GRCm39) missense probably damaging 1.00
R8344:Cacng3 UTSW 7 122,367,569 (GRCm39) missense possibly damaging 0.62
R9485:Cacng3 UTSW 7 122,361,435 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16