Incidental Mutation 'R0973:Trpv6'
ID 82944
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 039102-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R0973 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 41597558-41613339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41602122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 396 (T396S)
Ref Sequence ENSEMBL: ENSMUSP00000143854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031902] [ENSMUST00000114732] [ENSMUST00000201471]
AlphaFold Q91WD2
Predicted Effect probably benign
Transcript: ENSMUST00000031902
AA Change: T396S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: T396S

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 probably benign
Transcript: ENSMUST00000114732
SMART Domains Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
EPH_lbd 34 227 2.18e-100 SMART
low complexity region 242 255 N/A INTRINSIC
Pfam:GCC2_GCC3 299 341 1.9e-9 PFAM
FN3 365 462 3.59e-3 SMART
FN3 481 562 3.73e-10 SMART
Pfam:EphA2_TM 589 660 3.4e-16 PFAM
Pfam:Pkinase 663 908 1.4e-29 PFAM
Pfam:Pkinase_Tyr 663 908 1.1e-67 PFAM
SAM 938 1005 1e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194405
Predicted Effect probably benign
Transcript: ENSMUST00000201471
AA Change: T396S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: T396S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (70/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Asic5 C T 3: 81,915,755 (GRCm39) probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cd46 T C 1: 194,724,300 (GRCm39) *366W probably null Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Cep152 A G 2: 125,436,819 (GRCm39) S574P probably benign Het
Cep250 A G 2: 155,806,209 (GRCm39) probably benign Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Dnah9 A T 11: 65,896,663 (GRCm39) probably null Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Gm12500 T C 3: 107,993,792 (GRCm39) probably null Het
Gm6327 T C 16: 12,578,977 (GRCm39) noncoding transcript Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Ift172 T C 5: 31,415,262 (GRCm39) probably benign Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Khsrp T C 17: 57,332,576 (GRCm39) T235A probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lgals8 A T 13: 12,466,276 (GRCm39) probably benign Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Mcpt8 T C 14: 56,321,257 (GRCm39) probably benign Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Naa25 T C 5: 121,576,779 (GRCm39) probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Pld2 T C 11: 70,447,907 (GRCm39) W857R probably damaging Het
Pm20d2 T A 4: 33,174,734 (GRCm39) probably benign Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Skint1 T G 4: 111,885,412 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Spag7 A G 11: 70,560,008 (GRCm39) probably benign Het
Sri A T 5: 8,109,381 (GRCm39) Q55L probably damaging Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Usp24 A G 4: 106,270,875 (GRCm39) probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H 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
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
R2287:Trpv6 UTSW 6 41,603,045 (GRCm39) missense probably damaging 1.00
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'- TGTAGCCCAGAATGCAGACTGGAC -3'
(R):5'- CTGGACCAGACACCTGTAAAGGAAC -3'

Sequencing Primer
(F):5'- CAACCGGAGGTCATCCTTAG -3'
(R):5'- CTGTAAAGGAACTGGTGAGCCTC -3'
Posted On 2013-11-08