Incidental Mutation 'R2015:Trpv3'
ID 222866
Institutional Source Beutler Lab
Gene Symbol Trpv3
Ensembl Gene ENSMUSG00000043029
Gene Name transient receptor potential cation channel, subfamily V, member 3
Synonyms VRL3, 1110036I10Rik, Nh
MMRRC Submission 040024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R2015 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 73158315-73191194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73170653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 178 (N178Y)
Ref Sequence ENSEMBL: ENSMUSP00000053755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049676]
AlphaFold Q8K424
PDB Structure Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000049676
AA Change: N178Y

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: N178Y

DomainStartEndE-ValueType
low complexity region 81 92 N/A INTRINSIC
low complexity region 109 122 N/A INTRINSIC
low complexity region 133 153 N/A INTRINSIC
ANK 167 201 1.21e2 SMART
ANK 214 243 3.54e-1 SMART
ANK 261 291 1.36e-2 SMART
ANK 340 370 6.71e-2 SMART
low complexity region 417 431 N/A INTRINSIC
Pfam:Ion_trans 437 689 3.9e-9 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,022,672 (GRCm39) M1022K probably benign Het
Abhd4 T A 14: 54,500,289 (GRCm39) H74Q probably damaging Het
Actg1 A G 11: 120,237,636 (GRCm39) S49P possibly damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Aire T C 10: 77,878,792 (GRCm39) D85G probably damaging Het
Akr1c18 T A 13: 4,195,308 (GRCm39) D50V probably damaging Het
Ankrd13a C A 5: 114,930,170 (GRCm39) A185E probably damaging Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Armc8 A T 9: 99,365,158 (GRCm39) C661* probably null Het
Bbs10 C T 10: 111,136,716 (GRCm39) Q610* probably null Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
Cdk14 T C 5: 5,430,082 (GRCm39) K15R probably benign Het
Cdr1 A G X: 60,228,420 (GRCm39) F249L probably benign Het
Cep250 A C 2: 155,823,373 (GRCm39) H1009P probably damaging Het
Cfap97d1 C A 11: 101,878,044 (GRCm39) H35Q probably damaging Het
Clasp2 A G 9: 113,740,568 (GRCm39) T495A possibly damaging Het
Col19a1 C G 1: 24,598,834 (GRCm39) G53A unknown Het
Cpne1 G A 2: 155,920,308 (GRCm39) R166C probably damaging Het
Dtx3l G A 16: 35,756,797 (GRCm39) H129Y probably benign Het
Ercc3 A G 18: 32,381,482 (GRCm39) T433A probably benign Het
Gm9936 T A 5: 114,995,482 (GRCm39) probably benign Het
Grina T C 15: 76,132,734 (GRCm39) V167A probably damaging Het
H2ac25 T A 11: 58,845,754 (GRCm39) L64Q probably damaging Het
Hcfc2 A G 10: 82,574,814 (GRCm39) N618D probably benign Het
Herpud1 T C 8: 95,118,834 (GRCm39) V196A probably benign Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Igll1 A G 16: 16,681,639 (GRCm39) S39P probably benign Het
Kdm5a T C 6: 120,408,951 (GRCm39) S1545P probably benign Het
Klra8 C A 6: 130,092,536 (GRCm39) C255F probably damaging Het
Krtap4-6 A T 11: 99,556,398 (GRCm39) C110S unknown Het
Lef1 T A 3: 130,905,236 (GRCm39) I39N probably damaging Het
Lnpep G A 17: 17,799,325 (GRCm39) T110I probably damaging Het
Lrp1 T A 10: 127,376,563 (GRCm39) T4282S probably benign Het
Lrp6 A G 6: 134,457,337 (GRCm39) probably null Het
Ly6g5b A C 17: 35,333,654 (GRCm39) S53A possibly damaging Het
M6pr T G 6: 122,290,332 (GRCm39) N98K probably damaging Het
Mal2 T C 15: 54,464,136 (GRCm39) *176Q probably null Het
Mansc1 T C 6: 134,587,274 (GRCm39) D301G possibly damaging Het
Marchf1 C A 8: 66,574,473 (GRCm39) N11K probably damaging Het
Mast3 T A 8: 71,240,007 (GRCm39) I338F probably benign Het
Mcm3 A G 1: 20,873,804 (GRCm39) L772P probably damaging Het
Mib2 C T 4: 155,742,337 (GRCm39) G176D probably damaging Het
Mier2 A T 10: 79,377,036 (GRCm39) probably null Het
Mogs C T 6: 83,094,631 (GRCm39) R483* probably null Het
Msl2 G T 9: 100,957,304 (GRCm39) probably benign Het
Naa16 A T 14: 79,582,499 (GRCm39) M530K probably damaging Het
Nde1 A T 16: 13,987,321 (GRCm39) probably benign Het
Ndufb10 T C 17: 24,941,503 (GRCm39) probably null Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Npffr2 T A 5: 89,730,751 (GRCm39) I227N probably damaging Het
Nup210l T A 3: 90,092,739 (GRCm39) L1231Q probably damaging Het
Or2f1 A G 6: 42,721,784 (GRCm39) E271G probably damaging Het
Or7a39 T C 10: 78,715,222 (GRCm39) I72T possibly damaging Het
Pclo C A 5: 14,571,515 (GRCm39) P300Q probably damaging Het
Pik3c2a T A 7: 115,950,166 (GRCm39) probably null Het
Plekha5 T A 6: 140,480,290 (GRCm39) probably null Het
Pls1 A G 9: 95,643,418 (GRCm39) V527A possibly damaging Het
Ppfia2 T C 10: 106,310,538 (GRCm39) M15T probably benign Het
Prkd2 T A 7: 16,581,602 (GRCm39) C152* probably null Het
Ptprq T G 10: 107,503,283 (GRCm39) K792Q probably damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Rbbp8 T C 18: 11,853,681 (GRCm39) M296T probably benign Het
Rfc3 T C 5: 151,571,003 (GRCm39) probably null Het
Rnf17 A G 14: 56,724,426 (GRCm39) N1090S probably benign Het
Sash1 A T 10: 8,605,177 (GRCm39) V1071D probably benign Het
Sdsl G A 5: 120,601,218 (GRCm39) T18M probably damaging Het
Sepsecs T A 5: 52,804,966 (GRCm39) Q365L probably benign Het
Sgta A T 10: 80,887,130 (GRCm39) V45E probably damaging Het
Slc25a46 A T 18: 31,742,778 (GRCm39) H29Q probably benign Het
Slc2a8 A C 2: 32,871,392 (GRCm39) V136G probably benign Het
Smg7 A T 1: 152,736,259 (GRCm39) N166K probably damaging Het
Spata21 C T 4: 140,834,640 (GRCm39) Q505* probably null Het
Strn4 T C 7: 16,566,953 (GRCm39) S458P possibly damaging Het
Tbc1d22a C T 15: 86,183,885 (GRCm39) T248M probably damaging Het
Trabd T A 15: 88,968,929 (GRCm39) M149K possibly damaging Het
Try5 C T 6: 41,291,585 (GRCm39) probably null Het
Tsg101 C T 7: 46,558,652 (GRCm39) probably null Het
Ube3b A G 5: 114,549,210 (GRCm39) E738G probably damaging Het
Unc13d A G 11: 115,959,581 (GRCm39) S631P probably damaging Het
Unc5d T C 8: 29,249,007 (GRCm39) T297A probably damaging Het
Usp18 A T 6: 121,245,509 (GRCm39) E1V probably damaging Het
Vapb C A 2: 173,613,391 (GRCm39) P97T probably benign Het
Vmn1r33 T A 6: 66,589,356 (GRCm39) D66V probably benign Het
Vmn2r19 T A 6: 123,292,954 (GRCm39) M332K probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vwde C A 6: 13,208,337 (GRCm39) G182C possibly damaging Het
Wdfy3 A C 5: 102,008,352 (GRCm39) S2778A probably null Het
Zbtb2 T A 10: 4,319,757 (GRCm39) I90F possibly damaging Het
Zfp518b C A 5: 38,829,345 (GRCm39) V887F probably benign Het
Zfp790 A G 7: 29,528,286 (GRCm39) T324A probably benign Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A possibly damaging Het
Other mutations in Trpv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Trpv3 APN 11 73,184,826 (GRCm39) critical splice donor site probably null
IGL01161:Trpv3 APN 11 73,187,544 (GRCm39) splice site probably benign
IGL02130:Trpv3 APN 11 73,170,596 (GRCm39) missense probably benign 0.00
IGL02957:Trpv3 APN 11 73,176,698 (GRCm39) missense probably damaging 1.00
IGL03334:Trpv3 APN 11 73,172,491 (GRCm39) splice site probably benign
R0103:Trpv3 UTSW 11 73,184,805 (GRCm39) missense probably damaging 1.00
R0103:Trpv3 UTSW 11 73,184,805 (GRCm39) missense probably damaging 1.00
R0546:Trpv3 UTSW 11 73,188,013 (GRCm39) missense probably damaging 1.00
R0685:Trpv3 UTSW 11 73,187,640 (GRCm39) splice site probably benign
R0969:Trpv3 UTSW 11 73,169,764 (GRCm39) nonsense probably null
R1748:Trpv3 UTSW 11 73,186,209 (GRCm39) missense possibly damaging 0.84
R1974:Trpv3 UTSW 11 73,174,514 (GRCm39) missense probably damaging 0.99
R3426:Trpv3 UTSW 11 73,176,767 (GRCm39) missense probably damaging 1.00
R3427:Trpv3 UTSW 11 73,176,767 (GRCm39) missense probably damaging 1.00
R3428:Trpv3 UTSW 11 73,176,767 (GRCm39) missense probably damaging 1.00
R3618:Trpv3 UTSW 11 73,186,281 (GRCm39) missense probably damaging 1.00
R3712:Trpv3 UTSW 11 73,169,780 (GRCm39) missense probably benign
R3916:Trpv3 UTSW 11 73,174,560 (GRCm39) missense possibly damaging 0.87
R3917:Trpv3 UTSW 11 73,174,560 (GRCm39) missense possibly damaging 0.87
R3961:Trpv3 UTSW 11 73,178,246 (GRCm39) nonsense probably null
R4242:Trpv3 UTSW 11 73,168,649 (GRCm39) missense probably benign 0.43
R4277:Trpv3 UTSW 11 73,187,264 (GRCm39) missense probably damaging 0.97
R4506:Trpv3 UTSW 11 73,186,150 (GRCm39) missense probably benign 0.40
R4629:Trpv3 UTSW 11 73,172,615 (GRCm39) missense probably damaging 0.99
R4656:Trpv3 UTSW 11 73,186,240 (GRCm39) missense probably damaging 1.00
R5059:Trpv3 UTSW 11 73,186,149 (GRCm39) missense probably benign 0.00
R5121:Trpv3 UTSW 11 73,168,660 (GRCm39) critical splice donor site probably null
R6113:Trpv3 UTSW 11 73,176,844 (GRCm39) missense probably benign 0.10
R6130:Trpv3 UTSW 11 73,187,309 (GRCm39) missense possibly damaging 0.49
R6342:Trpv3 UTSW 11 73,174,689 (GRCm39) missense probably damaging 1.00
R6850:Trpv3 UTSW 11 73,182,519 (GRCm39) missense probably damaging 1.00
R7180:Trpv3 UTSW 11 73,168,818 (GRCm39) missense probably benign
R7434:Trpv3 UTSW 11 73,179,087 (GRCm39) missense probably damaging 0.96
R7440:Trpv3 UTSW 11 73,168,800 (GRCm39) missense probably benign 0.37
R7741:Trpv3 UTSW 11 73,179,088 (GRCm39) missense probably damaging 0.99
R7750:Trpv3 UTSW 11 73,176,847 (GRCm39) missense probably damaging 0.99
R7785:Trpv3 UTSW 11 73,168,558 (GRCm39) missense probably benign 0.43
R8309:Trpv3 UTSW 11 73,170,747 (GRCm39) missense probably damaging 1.00
R8354:Trpv3 UTSW 11 73,182,448 (GRCm39) missense probably damaging 1.00
R8383:Trpv3 UTSW 11 73,180,127 (GRCm39) missense probably benign 0.30
R8443:Trpv3 UTSW 11 73,186,209 (GRCm39) missense possibly damaging 0.84
R8454:Trpv3 UTSW 11 73,182,448 (GRCm39) missense probably damaging 1.00
R8492:Trpv3 UTSW 11 73,179,035 (GRCm39) nonsense probably null
R8556:Trpv3 UTSW 11 73,178,291 (GRCm39) missense probably benign
R8701:Trpv3 UTSW 11 73,169,762 (GRCm39) missense possibly damaging 0.84
R9046:Trpv3 UTSW 11 73,176,698 (GRCm39) missense probably damaging 1.00
R9431:Trpv3 UTSW 11 73,178,225 (GRCm39) missense probably benign
R9492:Trpv3 UTSW 11 73,187,267 (GRCm39) missense probably damaging 0.99
R9748:Trpv3 UTSW 11 73,174,499 (GRCm39) missense possibly damaging 0.84
Z1186:Trpv3 UTSW 11 73,174,502 (GRCm39) missense probably benign
Z1186:Trpv3 UTSW 11 73,169,803 (GRCm39) missense probably benign
Z1186:Trpv3 UTSW 11 73,160,513 (GRCm39) missense probably benign
Z1187:Trpv3 UTSW 11 73,174,502 (GRCm39) missense probably benign
Z1187:Trpv3 UTSW 11 73,169,803 (GRCm39) missense probably benign
Z1187:Trpv3 UTSW 11 73,160,513 (GRCm39) missense probably benign
Z1188:Trpv3 UTSW 11 73,174,502 (GRCm39) missense probably benign
Z1188:Trpv3 UTSW 11 73,169,803 (GRCm39) missense probably benign
Z1188:Trpv3 UTSW 11 73,160,513 (GRCm39) missense probably benign
Z1189:Trpv3 UTSW 11 73,169,803 (GRCm39) missense probably benign
Z1189:Trpv3 UTSW 11 73,160,513 (GRCm39) missense probably benign
Z1189:Trpv3 UTSW 11 73,174,502 (GRCm39) missense probably benign
Z1190:Trpv3 UTSW 11 73,174,502 (GRCm39) missense probably benign
Z1190:Trpv3 UTSW 11 73,169,803 (GRCm39) missense probably benign
Z1190:Trpv3 UTSW 11 73,160,513 (GRCm39) missense probably benign
Z1191:Trpv3 UTSW 11 73,169,803 (GRCm39) missense probably benign
Z1191:Trpv3 UTSW 11 73,160,513 (GRCm39) missense probably benign
Z1191:Trpv3 UTSW 11 73,174,502 (GRCm39) missense probably benign
Z1192:Trpv3 UTSW 11 73,174,502 (GRCm39) missense probably benign
Z1192:Trpv3 UTSW 11 73,169,803 (GRCm39) missense probably benign
Z1192:Trpv3 UTSW 11 73,160,513 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGCTTCCAAGGTGTGAGGC -3'
(R):5'- ATAGCCAAAGTGCCTCTGTG -3'

Sequencing Primer
(F):5'- TGAGGCTGCAGCTTCCACTG -3'
(R):5'- CCTCTGTGAGGCAAGATGG -3'
Posted On 2014-08-25