Incidental Mutation 'R1748:Trpv3'
ID 194140
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 039780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R1748 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 73158315-73191194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73186209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 667 (V667I)
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 possibly damaging
Transcript: ENSMUST00000049676
AA Change: V667I

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: V667I

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,152,338 (GRCm39) Q1403K probably benign Het
Adamts12 G A 15: 11,241,548 (GRCm39) M373I probably damaging Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aire T C 10: 77,879,314 (GRCm39) H15R probably damaging Het
Aldh3b2 T C 19: 4,027,572 (GRCm39) F38L probably damaging Het
Alk A C 17: 72,910,416 (GRCm39) C97G probably benign Het
Ano8 T C 8: 71,931,602 (GRCm39) probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arsk T A 13: 76,210,529 (GRCm39) H506L probably benign Het
Asgr2 G T 11: 69,987,658 (GRCm39) R52L probably damaging Het
Atp2a1 A G 7: 126,058,780 (GRCm39) I145T possibly damaging Het
Atrnl1 A G 19: 57,703,134 (GRCm39) T1051A probably damaging Het
Cacna1e A T 1: 154,362,315 (GRCm39) V424D possibly damaging Het
Capn3 T C 2: 120,327,494 (GRCm39) V574A probably benign Het
Capzb C A 4: 138,984,679 (GRCm39) D67E probably damaging Het
Ccdc68 A T 18: 70,089,062 (GRCm39) T202S probably benign Het
Ccser2 T C 14: 36,618,270 (GRCm39) K123R probably damaging Het
Ccser2 T A 14: 36,618,271 (GRCm39) K123* probably null Het
Ces2h T C 8: 105,744,473 (GRCm39) I316T probably benign Het
Chd3 T G 11: 69,255,523 (GRCm39) K122Q possibly damaging Het
Col12a1 T C 9: 79,580,279 (GRCm39) T1533A probably benign Het
Cr2 T A 1: 194,838,213 (GRCm39) K1084* probably null Het
Ddx28 A G 8: 106,737,314 (GRCm39) L248P probably benign Het
Depdc5 A G 5: 33,075,286 (GRCm39) E488G probably benign Het
Dld T C 12: 31,384,745 (GRCm39) T305A probably benign Het
Dok5 T A 2: 170,683,373 (GRCm39) F211L probably damaging Het
Duox2 T C 2: 122,117,532 (GRCm39) D934G probably benign Het
Eif3a G A 19: 60,755,236 (GRCm39) T982I unknown Het
Erbb2 G T 11: 98,326,161 (GRCm39) R979L probably benign Het
Espl1 G T 15: 102,206,964 (GRCm39) V143L possibly damaging Het
Fanci T C 7: 79,080,236 (GRCm39) L598P probably damaging Het
Fat2 T A 11: 55,147,473 (GRCm39) E3923V probably damaging Het
Fhod3 A T 18: 24,903,550 (GRCm39) K95* probably null Het
Gpr108 G T 17: 57,543,217 (GRCm39) T484K probably damaging Het
Hao1 T A 2: 134,340,238 (GRCm39) N351I possibly damaging Het
Hepacam A T 9: 37,295,189 (GRCm39) N308I possibly damaging Het
Herc2 T C 7: 55,798,571 (GRCm39) probably null Het
Hltf T C 3: 20,130,685 (GRCm39) I301T probably benign Het
Igsf10 A T 3: 59,226,514 (GRCm39) N2386K probably damaging Het
Ikbke G T 1: 131,186,937 (GRCm39) T585K probably benign Het
Iqgap3 A G 3: 88,021,287 (GRCm39) T448A possibly damaging Het
Kl T C 5: 150,904,450 (GRCm39) S401P possibly damaging Het
Lama4 T C 10: 38,941,615 (GRCm39) V684A probably benign Het
Lgals8 A T 13: 12,469,824 (GRCm39) F45Y probably damaging Het
Lgalsl G A 11: 20,776,491 (GRCm39) R134C probably benign Het
Lmcd1 T C 6: 112,306,875 (GRCm39) V349A probably benign Het
Lrp1b T A 2: 41,618,718 (GRCm39) N119Y possibly damaging Het
Lrrc73 T A 17: 46,566,621 (GRCm39) I157N probably damaging Het
Map3k8 A G 18: 4,334,766 (GRCm39) Y293H probably damaging Het
Mybphl A T 3: 108,282,400 (GRCm39) probably null Het
Naa12 T C 18: 80,255,161 (GRCm39) S152P probably benign Het
Ndrg1 A G 15: 66,802,930 (GRCm39) M140T possibly damaging Het
Or2n1e T A 17: 38,585,997 (GRCm39) C112S possibly damaging Het
Or8b38 A G 9: 37,972,796 (GRCm39) Y60C probably damaging Het
Pbx2 T C 17: 34,812,951 (GRCm39) S76P possibly damaging Het
Plcl2 T A 17: 50,913,826 (GRCm39) S278R probably benign Het
Polr3d A T 14: 70,676,915 (GRCm39) L393* probably null Het
Prmt6 T C 3: 110,157,683 (GRCm39) Q202R probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sag T A 1: 87,759,662 (GRCm39) I300N probably damaging Het
Sap25 T A 5: 137,640,180 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,695 (GRCm39) L177P probably damaging Het
Sh3pxd2b A T 11: 32,372,203 (GRCm39) N457Y possibly damaging Het
Siae T A 9: 37,542,902 (GRCm39) probably null Het
Slc36a1 T C 11: 55,119,150 (GRCm39) L375P probably damaging Het
Smg8 A G 11: 86,976,594 (GRCm39) V329A probably damaging Het
Tas2r113 A T 6: 132,870,695 (GRCm39) Y241F probably damaging Het
Tm9sf3 T G 19: 41,244,668 (GRCm39) S70R probably benign Het
Tmem144 C T 3: 79,732,594 (GRCm39) S228N probably damaging Het
Tmem45a C A 16: 56,642,701 (GRCm39) V157F possibly damaging Het
Tpbg G T 9: 85,726,429 (GRCm39) V133L probably damaging Het
Ube2c T C 2: 164,613,241 (GRCm39) F53S probably damaging Het
Vmn1r78 T A 7: 11,887,250 (GRCm39) V287D probably damaging Het
Vmn2r114 T A 17: 23,527,035 (GRCm39) D499V probably benign Het
Zpld2 C G 4: 133,927,610 (GRCm39) C381S probably damaging Het
Zpld2 T A 4: 133,929,430 (GRCm39) T292S 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
R1974:Trpv3 UTSW 11 73,174,514 (GRCm39) missense probably damaging 0.99
R2015:Trpv3 UTSW 11 73,170,653 (GRCm39) missense probably damaging 0.97
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'- GCCTCACTGATTGAGAAGTGCTCC -3'
(R):5'- AGAAGCCTGTGTCTCCCCTCTATG -3'

Sequencing Primer
(F):5'- TTGAGAAGTGCTCCAAGGAC -3'
(R):5'- CTTAAGCAAAGTCTCAGGATGC -3'
Posted On 2014-05-23