Incidental Mutation 'R0019:Cacng6'
ID 15616
Institutional Source Beutler Lab
Gene Symbol Cacng6
Ensembl Gene ENSMUSG00000078815
Gene Name calcium channel, voltage-dependent, gamma subunit 6
Synonyms 2310033H20Rik
MMRRC Submission 038314-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R0019 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 3472711-3484183 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3480384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 152 (M152I)
Ref Sequence ENSEMBL: ENSMUSP00000138622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108647] [ENSMUST00000183200]
AlphaFold Q8VHW3
Predicted Effect probably benign
Transcript: ENSMUST00000108647
SMART Domains Protein: ENSMUSP00000104287
Gene: ENSMUSG00000078815

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:Claudin_2 47 240 1.8e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183200
AA Change: M152I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138622
Gene: ENSMUSG00000078815
AA Change: M152I

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:Claudin_2 47 240 7e-20 PFAM
Meta Mutation Damage Score 0.0996 question?
Coding Region Coverage
  • 1x: 83.5%
  • 3x: 78.2%
  • 10x: 64.4%
  • 20x: 48.4%
Validation Efficiency 91% (93/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Gene trapped(4)
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,924,142 (GRCm39) probably benign Het
Arhgef12 A T 9: 42,889,529 (GRCm39) W1029R probably damaging Het
Aunip T A 4: 134,250,823 (GRCm39) L256* probably null Het
Bahcc1 T A 11: 120,180,597 (GRCm39) M2607K probably damaging Het
Bltp3b A G 10: 89,611,831 (GRCm39) T5A probably damaging Het
Cep120 A G 18: 53,842,119 (GRCm39) probably benign Het
D130043K22Rik T A 13: 25,064,795 (GRCm39) V737D probably damaging Het
Dock10 A G 1: 80,583,642 (GRCm39) S187P probably damaging Het
Eogt C T 6: 97,111,234 (GRCm39) probably benign Het
Fasn A T 11: 120,698,824 (GRCm39) probably benign Het
Frem2 C T 3: 53,431,099 (GRCm39) V2745M probably damaging Het
Fshb T C 2: 106,887,690 (GRCm39) S110G probably benign Het
Gpi1 A G 7: 33,920,324 (GRCm39) Y144H probably damaging Het
Gsap T C 5: 21,475,620 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc3 T C 6: 58,862,050 (GRCm39) probably benign Het
Il1r2 C T 1: 40,164,210 (GRCm39) T359M probably damaging Het
Il6st T C 13: 112,637,682 (GRCm39) C563R possibly damaging Het
Irs1 T A 1: 82,264,977 (GRCm39) K1080* probably null Het
Itpr1 T C 6: 108,331,587 (GRCm39) V182A probably damaging Het
Kalrn C T 16: 34,018,884 (GRCm39) probably benign Het
Kcnj11 G A 7: 45,748,363 (GRCm39) A320V probably benign Het
Lrig1 T A 6: 94,584,330 (GRCm39) R905* probably null Het
Lrrc43 T C 5: 123,639,378 (GRCm39) L469P probably damaging Het
Med29 A T 7: 28,090,501 (GRCm39) probably benign Het
Mroh7 T C 4: 106,578,623 (GRCm39) I18M probably benign Het
Nalcn A C 14: 123,744,901 (GRCm39) C376G probably benign Het
Ncor2 C T 5: 125,196,545 (GRCm39) probably null Het
Nek1 T A 8: 61,542,768 (GRCm39) M786K probably benign Het
Nrxn2 A G 19: 6,559,987 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,231,080 (GRCm39) I430V probably benign Het
Pcolce2 A G 9: 95,577,017 (GRCm39) probably null Het
Pdcl A T 2: 37,241,932 (GRCm39) L273M probably damaging Het
Pml A T 9: 58,127,776 (GRCm39) S610R probably damaging Het
Polk C A 13: 96,641,124 (GRCm39) R144S probably damaging Het
Rlf A G 4: 121,003,769 (GRCm39) V1737A possibly damaging Het
Rubcnl T A 14: 75,285,703 (GRCm39) probably benign Het
Scn3a A T 2: 65,292,045 (GRCm39) V1567E probably damaging Het
Scyl2 A G 10: 89,495,183 (GRCm39) I296T probably benign Het
Slc15a3 A G 19: 10,833,404 (GRCm39) I474V probably damaging Het
Sstr1 T C 12: 58,259,935 (GRCm39) L186S probably damaging Het
Tmem108 A T 9: 103,366,539 (GRCm39) V484D possibly damaging Het
Trim69 A T 2: 122,004,958 (GRCm39) probably null Het
Trim80 T G 11: 115,338,768 (GRCm39) Y533D probably damaging Het
Unc13b T C 4: 43,096,990 (GRCm39) I121T possibly damaging Het
Usp40 T C 1: 87,906,133 (GRCm39) T701A probably benign Het
Xpr1 A G 1: 155,208,145 (GRCm39) probably benign Het
Ywhab T A 2: 163,858,090 (GRCm39) I219N probably damaging Het
Zfp219 G T 14: 52,246,485 (GRCm39) T169K probably damaging Het
Other mutations in Cacng6
AlleleSourceChrCoordTypePredicted EffectPPH Score
3-1:Cacng6 UTSW 7 3,479,029 (GRCm39) critical splice donor site probably null
R0207:Cacng6 UTSW 7 3,473,520 (GRCm39) splice site probably benign
R0558:Cacng6 UTSW 7 3,483,324 (GRCm39) nonsense probably null
R0987:Cacng6 UTSW 7 3,479,020 (GRCm39) missense probably damaging 1.00
R1346:Cacng6 UTSW 7 3,483,438 (GRCm39) missense possibly damaging 0.90
R1470:Cacng6 UTSW 7 3,473,404 (GRCm39) missense probably damaging 1.00
R1470:Cacng6 UTSW 7 3,473,404 (GRCm39) missense probably damaging 1.00
R2116:Cacng6 UTSW 7 3,479,020 (GRCm39) missense probably damaging 1.00
R5327:Cacng6 UTSW 7 3,483,376 (GRCm39) missense probably damaging 0.99
R6383:Cacng6 UTSW 7 3,473,509 (GRCm39) critical splice donor site probably null
R7935:Cacng6 UTSW 7 3,473,384 (GRCm39) missense possibly damaging 0.93
R8031:Cacng6 UTSW 7 3,473,401 (GRCm39) missense possibly damaging 0.89
R8884:Cacng6 UTSW 7 3,478,984 (GRCm39) missense probably damaging 1.00
R9160:Cacng6 UTSW 7 3,483,406 (GRCm39) missense probably benign 0.01
R9567:Cacng6 UTSW 7 3,483,281 (GRCm39) missense probably benign 0.00
Posted On 2012-12-21