Incidental Mutation 'R8884:Cacng6'
ID 677162
Institutional Source Beutler Lab
Gene Symbol Cacng6
Ensembl Gene ENSMUSG00000078815
Gene Name calcium channel, voltage-dependent, gamma subunit 6
Synonyms 2310033H20Rik
MMRRC Submission 068690-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8884 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 3472711-3484183 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3478984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 121 (T121I)
Ref Sequence ENSEMBL: ENSMUSP00000138622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108647] [ENSMUST00000183200]
AlphaFold Q8VHW3
Predicted Effect probably damaging
Transcript: ENSMUST00000108647
AA Change: T121I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104287
Gene: ENSMUSG00000078815
AA Change: T121I

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:Claudin_2 47 240 1.8e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183200
AA Change: T121I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138622
Gene: ENSMUSG00000078815
AA Change: T121I

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:Claudin_2 47 240 7e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (65/66)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,354 (GRCm39) F168Y probably damaging Het
4932438H23Rik T C 16: 90,852,737 (GRCm39) Y133C probably damaging Het
Aasdh A G 5: 77,039,641 (GRCm39) S223P possibly damaging Het
Abca8a T C 11: 109,964,941 (GRCm39) D453G possibly damaging Het
Acsl6 T A 11: 54,236,728 (GRCm39) F541I probably damaging Het
Agfg1 A T 1: 82,860,110 (GRCm39) K326* probably null Het
Aldh1l2 T C 10: 83,344,541 (GRCm39) N448S probably benign Het
Alx4 A G 2: 93,473,355 (GRCm39) K118E possibly damaging Het
Atp9b T A 18: 80,838,562 (GRCm39) T451S Het
B4galt6 A T 18: 20,822,072 (GRCm39) N307K probably benign Het
Cacna1s G A 1: 136,042,981 (GRCm39) M1569I probably benign Het
Cdc5l C A 17: 45,744,467 (GRCm39) probably benign Het
Cdh20 A T 1: 110,027,860 (GRCm39) D535V probably damaging Het
Chrnb3 T C 8: 27,883,946 (GRCm39) F228L possibly damaging Het
Clca3a1 A T 3: 144,719,757 (GRCm39) D404E probably benign Het
Commd8 G A 5: 72,325,514 (GRCm39) probably benign Het
Cpn1 T A 19: 43,954,615 (GRCm39) Q337L possibly damaging Het
Dctn6 T C 8: 34,557,933 (GRCm39) T180A probably benign Het
Ddx60 A G 8: 62,447,553 (GRCm39) E1180G possibly damaging Het
Dock4 T A 12: 40,856,884 (GRCm39) L1239Q probably damaging Het
Dop1b T C 16: 93,556,550 (GRCm39) I469T probably benign Het
Enpep A T 3: 129,115,052 (GRCm39) I240N possibly damaging Het
Fat3 G A 9: 15,941,280 (GRCm39) T1337I probably damaging Het
Fbxw13 T A 9: 109,010,469 (GRCm39) M390L probably benign Het
Fgr C T 4: 132,713,609 (GRCm39) P46S probably benign Het
Galnt1 T A 18: 24,400,641 (GRCm39) M249K probably benign Het
Gm40460 A T 7: 141,794,555 (GRCm39) C87* probably null Het
Hcn4 C T 9: 58,760,705 (GRCm39) R417C unknown Het
Insr T C 8: 3,205,679 (GRCm39) N1370S probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kif14 G A 1: 136,414,089 (GRCm39) E722K Het
Larp6 G A 9: 60,620,682 (GRCm39) G65E Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Muc16 G A 9: 18,555,496 (GRCm39) T3599I unknown Het
Muc5b T C 7: 141,403,156 (GRCm39) F706L unknown Het
Nbea A T 3: 55,712,720 (GRCm39) M2119K probably benign Het
Or13a18 C T 7: 140,190,616 (GRCm39) P171L probably damaging Het
Or13a24 A T 7: 140,154,224 (GRCm39) T53S probably benign Het
Paip1 G A 13: 119,574,553 (GRCm39) V83I probably damaging Het
Pdcd1lg2 G T 19: 29,423,318 (GRCm39) probably null Het
Pde7a G A 3: 19,281,858 (GRCm39) A464V probably benign Het
Pfkfb2 A G 1: 130,634,213 (GRCm39) F155L probably damaging Het
Pimreg A G 11: 71,936,513 (GRCm39) D192G possibly damaging Het
Prkd3 T C 17: 79,282,193 (GRCm39) D320G probably damaging Het
Rgs7 A G 1: 174,980,730 (GRCm39) V98A probably benign Het
Ric3 C T 7: 108,637,688 (GRCm39) G356D probably benign Het
Rsph4a T C 10: 33,781,840 (GRCm39) probably benign Het
Ryr2 G A 13: 11,794,152 (GRCm39) T942I probably benign Het
Sez6l T C 5: 112,622,910 (GRCm39) T214A probably damaging Het
Sipa1l1 T G 12: 82,409,871 (GRCm39) V595G probably damaging Het
Spata31h1 T A 10: 82,119,486 (GRCm39) H4508L probably damaging Het
Spta1 G T 1: 174,045,254 (GRCm39) probably null Het
Ssbp2 A G 13: 91,836,989 (GRCm39) probably benign Het
Syne1 T G 10: 5,181,822 (GRCm39) Q4171P possibly damaging Het
Tgfb2 G A 1: 186,364,907 (GRCm39) T232I probably damaging Het
Tmem175 A G 5: 108,794,327 (GRCm39) S486G probably benign Het
Tmprss15 A G 16: 78,821,657 (GRCm39) V466A probably benign Het
Treh C G 9: 44,595,800 (GRCm39) probably benign Het
Ttc14 A G 3: 33,854,696 (GRCm39) S8G unknown Het
Ttc32 T A 12: 9,088,083 (GRCm39) D103E probably benign Het
Vmn1r44 T C 6: 89,870,458 (GRCm39) L68P probably damaging Het
Vmn2r37 T G 7: 9,218,916 (GRCm39) L489F probably benign Het
Vmn2r52 T A 7: 9,892,734 (GRCm39) T802S probably damaging Het
Wsb2 T A 5: 117,508,769 (GRCm39) F68I probably benign Het
Zbtb8os T C 4: 129,236,924 (GRCm39) V113A probably benign Het
Zfp354a A T 11: 50,950,805 (GRCm39) probably benign Het
Other mutations in Cacng6
AlleleSourceChrCoordTypePredicted EffectPPH Score
3-1:Cacng6 UTSW 7 3,479,029 (GRCm39) critical splice donor site probably null
R0019:Cacng6 UTSW 7 3,480,384 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- CGGACATCAGTGATATGGCAAG -3'
(R):5'- ACCGTCACCTTCCAAATTGG -3'

Sequencing Primer
(F):5'- TACCATGTGGATTCCAAGGC -3'
(R):5'- GAGACATCCACAGAGGCTG -3'
Posted On 2021-08-02