Incidental Mutation 'R2287:Trpv6'
ID 244151
Institutional Source Beutler Lab
Gene Symbol Trpv6
Ensembl Gene ENSMUSG00000029868
Gene Name transient receptor potential cation channel, subfamily V, member 6
Synonyms Ecac2, CaT1, CAT, Cac
MMRRC Submission 040286-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R2287 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 41597558-41613339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41603045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 276 (N276H)
Ref Sequence ENSEMBL: ENSMUSP00000143854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031902] [ENSMUST00000201471]
AlphaFold Q91WD2
Predicted Effect probably damaging
Transcript: ENSMUST00000031902
AA Change: N276H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: N276H

DomainStartEndE-ValueType
ANK 44 74 2.39e2 SMART
ANK 78 107 6.17e-1 SMART
ANK 116 145 3.06e-5 SMART
ANK 162 191 1.85e-4 SMART
Blast:ANK 195 223 3e-10 BLAST
ANK 238 267 2.47e2 SMART
Pfam:Ion_trans 327 589 9.8e-18 PFAM
low complexity region 680 695 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194405
Predicted Effect probably damaging
Transcript: ENSMUST00000201471
AA Change: N276H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: N276H

DomainStartEndE-ValueType
ANK 44 74 2.39e2 SMART
ANK 78 107 6.17e-1 SMART
ANK 116 145 3.06e-5 SMART
ANK 162 191 1.85e-4 SMART
Blast:ANK 195 223 3e-10 BLAST
ANK 238 267 2.47e2 SMART
Pfam:Ion_trans 327 589 9.8e-18 PFAM
low complexity region 680 695 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired sperm motility and decreased fertilization by sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clec4f CTT CT 6: 83,630,247 (GRCm39) probably null Het
Dis3l T A 9: 64,214,779 (GRCm39) Q930L probably benign Het
Edem2 T C 2: 155,555,279 (GRCm39) K275E probably benign Het
Ehf T C 2: 103,097,469 (GRCm39) I193V possibly damaging Het
Gsdma3 A G 11: 98,528,830 (GRCm39) N428S possibly damaging Het
Gtf2h4 C A 17: 35,982,117 (GRCm39) probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Naalad2 A T 9: 18,246,317 (GRCm39) probably null Het
Ndufa8 C T 2: 35,926,554 (GRCm39) A161T probably benign Het
Nlrp14 A T 7: 106,781,869 (GRCm39) L355F probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pcnx4 T C 12: 72,622,172 (GRCm39) I1047T probably benign Het
Pcolce2 G A 9: 95,560,458 (GRCm39) W169* probably null Het
Plxdc2 A G 2: 16,517,001 (GRCm39) D94G probably benign Het
Rp1 A T 1: 4,416,182 (GRCm39) Y1643* probably null Het
Skint4 A G 4: 111,975,402 (GRCm39) T121A possibly damaging Het
Speg A G 1: 75,407,109 (GRCm39) I3133V possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trim34a T A 7: 103,910,262 (GRCm39) S355T probably damaging Het
Vps8 T C 16: 21,387,163 (GRCm39) V1175A probably damaging Het
Other mutations in Trpv6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01878:Trpv6 APN 6 41,603,801 (GRCm39) splice site probably benign
IGL02033:Trpv6 APN 6 41,604,551 (GRCm39) splice site probably benign
IGL02439:Trpv6 APN 6 41,602,421 (GRCm39) missense probably damaging 1.00
R0973:Trpv6 UTSW 6 41,602,122 (GRCm39) missense probably benign 0.01
R0973:Trpv6 UTSW 6 41,602,122 (GRCm39) missense probably benign 0.01
R0974:Trpv6 UTSW 6 41,602,122 (GRCm39) missense probably benign 0.01
R1385:Trpv6 UTSW 6 41,598,063 (GRCm39) missense probably benign 0.32
R1696:Trpv6 UTSW 6 41,598,702 (GRCm39) missense possibly damaging 0.95
R2095:Trpv6 UTSW 6 41,598,690 (GRCm39) missense probably damaging 0.99
R2298:Trpv6 UTSW 6 41,613,010 (GRCm39) missense possibly damaging 0.62
R2519:Trpv6 UTSW 6 41,601,550 (GRCm39) nonsense probably null
R3522:Trpv6 UTSW 6 41,604,339 (GRCm39) missense probably damaging 0.99
R4172:Trpv6 UTSW 6 41,602,432 (GRCm39) missense probably damaging 1.00
R4397:Trpv6 UTSW 6 41,602,172 (GRCm39) missense possibly damaging 0.82
R4568:Trpv6 UTSW 6 41,603,503 (GRCm39) missense probably damaging 1.00
R4571:Trpv6 UTSW 6 41,598,678 (GRCm39) missense probably damaging 1.00
R5547:Trpv6 UTSW 6 41,613,088 (GRCm39) missense possibly damaging 0.68
R6344:Trpv6 UTSW 6 41,602,356 (GRCm39) splice site probably null
R6989:Trpv6 UTSW 6 41,602,390 (GRCm39) missense probably damaging 1.00
R7427:Trpv6 UTSW 6 41,602,087 (GRCm39) missense probably benign
R7445:Trpv6 UTSW 6 41,598,276 (GRCm39) missense probably damaging 1.00
R7538:Trpv6 UTSW 6 41,603,101 (GRCm39) missense probably benign 0.01
R7960:Trpv6 UTSW 6 41,604,612 (GRCm39) missense probably benign 0.00
R8059:Trpv6 UTSW 6 41,601,520 (GRCm39) missense probably benign 0.00
R9159:Trpv6 UTSW 6 41,603,074 (GRCm39) missense probably benign
R9307:Trpv6 UTSW 6 41,602,378 (GRCm39) missense probably benign 0.31
R9635:Trpv6 UTSW 6 41,599,901 (GRCm39) missense possibly damaging 0.90
R9732:Trpv6 UTSW 6 41,603,862 (GRCm39) nonsense probably null
R9745:Trpv6 UTSW 6 41,600,003 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATTGGCTTGGGCATTGCAG -3'
(R):5'- ACAGGAGAGCACCCTTTGTC -3'

Sequencing Primer
(F):5'- CTCAGCATGAGGTCTAGACTACATG -3'
(R):5'- AGAAAGTGCTGGATTCTCTCTC -3'
Posted On 2014-10-30