Incidental Mutation 'R5847:Cacng3'
ID 453677
Institutional Source Beutler Lab
Gene Symbol Cacng3
Ensembl Gene ENSMUSG00000066189
Gene Name calcium channel, voltage-dependent, gamma subunit 3
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 122270967-122368616 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122361532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 113 (F113S)
Ref Sequence ENSEMBL: ENSMUSP00000138755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084615] [ENSMUST00000182095] [ENSMUST00000182563]
AlphaFold Q9JJV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000084615
AA Change: F141S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081664
Gene: ENSMUSG00000066189
AA Change: F141S

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 possibly damaging
Transcript: ENSMUST00000182095
AA Change: F113S

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138755
Gene: ENSMUSG00000066189
AA Change: F113S

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
SMART Domains Protein: ENSMUSP00000138495
Gene: ENSMUSG00000066189

Pfam:PMP22_Claudin 6 99 1.4e-23 PFAM
Pfam:Claudin_2 18 112 2.6e-11 PFAM
Meta Mutation Damage Score 0.2806 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-02-10