Incidental Mutation 'IGL02576:Cacng3'
ID 299203
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: 0.064) question?
Stock # IGL02576
Quality Score
Status
Chromosome 7
Chromosomal Location 122270967-122368616 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122271133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 46 (S46N)
Ref Sequence ENSEMBL: ENSMUSP00000138755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084615] [ENSMUST00000182095] [ENSMUST00000182563]
AlphaFold Q9JJV5
Predicted Effect probably benign
Transcript: ENSMUST00000084615
AA Change: S46N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081664
Gene: ENSMUSG00000066189
AA Change: S46N

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: S46N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138755
Gene: ENSMUSG00000066189
AA Change: S46N

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 benign
Transcript: ENSMUST00000182563
AA Change: S46N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138495
Gene: ENSMUSG00000066189
AA Change: S46N

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,032,678 (GRCm39) I232M probably benign Het
Ace G A 11: 105,864,937 (GRCm39) V537M probably damaging Het
Alg1 A G 16: 5,062,393 (GRCm39) E425G possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap65 A G 1: 74,942,617 (GRCm39) S1646P probably damaging Het
Cimap2 T C 4: 106,448,825 (GRCm39) D411G possibly damaging Het
Col20a1 C T 2: 180,655,198 (GRCm39) Q1152* probably null Het
D130043K22Rik A C 13: 25,040,853 (GRCm39) T92P possibly damaging Het
Drc3 T C 11: 60,261,377 (GRCm39) M176T probably benign Het
Esyt3 T C 9: 99,197,278 (GRCm39) R851G probably benign Het
Fbxo43 A G 15: 36,152,321 (GRCm39) V496A probably benign Het
Fut4 T A 9: 14,662,701 (GRCm39) M198L probably damaging Het
Galt C T 4: 41,755,953 (GRCm39) probably benign Het
Glipr1l1 A G 10: 111,896,224 (GRCm39) K4E possibly damaging Het
Gm9945 A G 11: 53,371,178 (GRCm39) probably benign Het
Hspa12a A C 19: 58,787,842 (GRCm39) I660R possibly damaging Het
Htr3b T C 9: 48,856,804 (GRCm39) I225V possibly damaging Het
Igf2r T C 17: 12,967,650 (GRCm39) D23G possibly damaging Het
Igsf5 A G 16: 96,187,781 (GRCm39) I158V probably benign Het
Itgae A G 11: 73,009,331 (GRCm39) Y505C possibly damaging Het
Kif16b A G 2: 142,704,465 (GRCm39) probably benign Het
Kif26b T C 1: 178,743,912 (GRCm39) V1336A probably benign Het
Kmt2d A G 15: 98,762,001 (GRCm39) S450P unknown Het
Lhfpl2 G A 13: 94,310,734 (GRCm39) M1I probably null Het
Lig4 A G 8: 10,021,116 (GRCm39) I888T probably damaging Het
Msh4 G A 3: 153,573,383 (GRCm39) T563M probably damaging Het
Muc5ac C T 7: 141,370,781 (GRCm39) A3238V probably benign Het
Myo15b A G 11: 115,780,879 (GRCm39) S1246G probably null Het
Or5h25 T C 16: 58,930,134 (GRCm39) I280V probably benign Het
Pecam1 G A 11: 106,562,600 (GRCm39) T599M probably damaging Het
Phf3 G A 1: 30,869,117 (GRCm39) P644S probably benign Het
Pkd1l1 A C 11: 8,794,560 (GRCm39) F2317C possibly damaging Het
Prdm4 A G 10: 85,736,801 (GRCm39) M613T possibly damaging Het
Prim2 A T 1: 33,523,798 (GRCm39) I371N probably damaging Het
Ptprs T C 17: 56,721,958 (GRCm39) D1316G probably damaging Het
Rnf19b C T 4: 128,967,315 (GRCm39) R285* probably null Het
Secisbp2 A G 13: 51,824,894 (GRCm39) N381D possibly damaging Het
Slc28a2 T C 2: 122,288,652 (GRCm39) I586T probably damaging Het
Spef1 T C 2: 131,016,562 (GRCm39) H11R possibly damaging Het
Taar4 T C 10: 23,836,909 (GRCm39) L173S probably damaging Het
Tas2r123 T C 6: 132,824,703 (GRCm39) F200S possibly damaging Het
Tex16 T A X: 111,028,653 (GRCm39) L384Q probably benign Het
Tox2 A G 2: 163,118,100 (GRCm39) Q168R probably damaging Het
Trim5 T A 7: 103,927,624 (GRCm39) E172V probably damaging Het
Txndc11 G A 16: 10,892,881 (GRCm39) probably benign Het
Vmn1r232 T A 17: 21,134,175 (GRCm39) I142F probably benign Het
Zdhhc25 A T 15: 88,485,472 (GRCm39) H269L probably benign Het
Znrf4 T C 17: 56,819,199 (GRCm39) D36G probably damaging Het
Other mutations in Cacng3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Cacng3 APN 7 122,271,169 (GRCm39) missense possibly damaging 0.81
IGL02361:Cacng3 APN 7 122,271,169 (GRCm39) missense possibly damaging 0.81
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