Incidental Mutation 'R0019:Cacng6'
Institutional Source Beutler Lab
Gene Symbol Cacng6
Ensembl Gene ENSMUSG00000078815
Gene Namecalcium channel, voltage-dependent, gamma subunit 6
MMRRC Submission 038314-MU
Accession Numbers

Genbank: NM_133183; MGI: 1859168

Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #R0019 (G1)
Quality Score
Status Validated
Chromosomal Location3424195-3435667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 3431868 bp
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]
Predicted Effect probably benign
Transcript: ENSMUST00000108647
SMART Domains Protein: ENSMUSP00000104287
Gene: ENSMUSG00000078815

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

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: 114,786,081 probably benign Het
Arhgef12 A T 9: 42,978,233 W1029R probably damaging Het
Aunip T A 4: 134,523,512 L256* probably null Het
Bahcc1 T A 11: 120,289,771 M2607K probably damaging Het
Cep120 A G 18: 53,709,047 probably benign Het
D130043K22Rik T A 13: 24,880,812 V737D probably damaging Het
Dock10 A G 1: 80,605,925 S187P probably damaging Het
Eogt C T 6: 97,134,273 probably benign Het
Fasn A T 11: 120,807,998 probably benign Het
Frem2 C T 3: 53,523,678 V2745M probably damaging Het
Fshb T C 2: 107,057,345 S110G probably benign Het
Gpi1 A G 7: 34,220,899 Y144H probably damaging Het
Gsap T C 5: 21,270,622 probably benign Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Herc3 T C 6: 58,885,065 probably benign Het
Il1r2 C T 1: 40,125,050 T359M probably damaging Het
Il6st T C 13: 112,501,148 C563R possibly damaging Het
Irs1 T A 1: 82,287,256 K1080* probably null Het
Itpr1 T C 6: 108,354,626 V182A probably damaging Het
Kalrn C T 16: 34,198,514 probably benign Het
Kcnj11 G A 7: 46,098,939 A320V probably benign Het
Lrig1 T A 6: 94,607,349 R905* probably null Het
Lrrc43 T C 5: 123,501,315 L469P probably damaging Het
Med29 A T 7: 28,391,076 probably benign Het
Mroh7 T C 4: 106,721,426 I18M probably benign Het
Nalcn A C 14: 123,507,489 C376G probably benign Het
Ncor2 C T 5: 125,119,481 probably null Het
Nek1 T A 8: 61,089,734 M786K probably benign Het
Nrxn2 A G 19: 6,509,957 probably benign Het
Nxpe2 T C 9: 48,319,780 I430V probably benign Het
Pcolce2 A G 9: 95,694,964 probably null Het
Pdcl A T 2: 37,351,920 L273M probably damaging Het
Pml A T 9: 58,220,493 S610R probably damaging Het
Polk C A 13: 96,504,616 R144S probably damaging Het
Rlf A G 4: 121,146,572 V1737A possibly damaging Het
Rubcnl T A 14: 75,048,263 probably benign Het
Scn3a A T 2: 65,461,701 V1567E probably damaging Het
Scyl2 A G 10: 89,659,321 I296T probably benign Het
Slc15a3 A G 19: 10,856,040 I474V probably damaging Het
Sstr1 T C 12: 58,213,149 L186S probably damaging Het
Tmem108 A T 9: 103,489,340 V484D possibly damaging Het
Trim69 A T 2: 122,174,477 probably null Het
Trim80 T G 11: 115,447,942 Y533D probably damaging Het
Uhrf1bp1l A G 10: 89,775,969 T5A probably damaging Het
Unc13b T C 4: 43,096,990 I121T possibly damaging Het
Usp40 T C 1: 87,978,411 T701A probably benign Het
Xpr1 A G 1: 155,332,399 probably benign Het
Ywhab T A 2: 164,016,170 I219N probably damaging Het
Zfp219 G T 14: 52,009,028 T169K probably damaging Het
Other mutations in Cacng6
AlleleSourceChrCoordTypePredicted EffectPPH Score
3-1:Cacng6 UTSW 7 3430513 critical splice donor site probably null
R0207:Cacng6 UTSW 7 3425004 splice site probably benign
R0558:Cacng6 UTSW 7 3434808 nonsense probably null
R0987:Cacng6 UTSW 7 3430504 missense probably damaging 1.00
R1346:Cacng6 UTSW 7 3434922 missense possibly damaging 0.90
R1470:Cacng6 UTSW 7 3424888 missense probably damaging 1.00
R1470:Cacng6 UTSW 7 3424888 missense probably damaging 1.00
R2116:Cacng6 UTSW 7 3430504 missense probably damaging 1.00
R5327:Cacng6 UTSW 7 3434860 missense probably damaging 0.99
R6383:Cacng6 UTSW 7 3424993 critical splice donor site probably null
R8031:Cacng6 UTSW 7 3424885 missense not run
Posted On2012-12-21