Incidental Mutation 'R3428:Trpv3'
ID 267968
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 040646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R3428 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73158315-73191194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73176767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 382 (Y382F)
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: Y382F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: Y382F

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
Meta Mutation Damage Score 0.3912 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (34/34)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C A 8: 25,157,620 (GRCm39) C110F probably damaging Het
Adamts14 C T 10: 61,060,153 (GRCm39) E452K probably benign Het
Adrb3 T C 8: 27,718,209 (GRCm39) D80G probably damaging Het
Alg5 T A 3: 54,643,006 (GRCm39) M1K probably null Het
Ap1g1 A G 8: 110,570,080 (GRCm39) E398G probably damaging Het
Arhgap17 A T 7: 122,922,854 (GRCm39) L85Q probably damaging Het
Bbs9 T A 9: 22,479,183 (GRCm39) probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bicd1 T C 6: 149,414,400 (GRCm39) L371P probably damaging Het
Cand2 A C 6: 115,766,668 (GRCm39) R424S probably benign Het
Eng G T 2: 32,547,545 (GRCm39) V29F probably damaging Het
Gm5828 T A 1: 16,838,838 (GRCm39) noncoding transcript Het
Hspg2 T C 4: 137,282,601 (GRCm39) L3447P probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kmt2a T A 9: 44,759,416 (GRCm39) N844I probably benign Het
Lyzl4 T C 9: 121,413,195 (GRCm39) I78V probably null Het
Mtg2 A G 2: 179,726,065 (GRCm39) H225R possibly damaging Het
Or10a5 G A 7: 106,635,923 (GRCm39) R187K probably benign Het
Pfpl T A 19: 12,407,677 (GRCm39) S643T probably benign Het
Prelid1 T G 13: 55,470,007 (GRCm39) V2G probably benign Het
Psma2 A T 13: 14,791,362 (GRCm39) K2N probably benign Het
Sec24d C T 3: 123,137,572 (GRCm39) probably benign Het
Setd1a G T 7: 127,384,493 (GRCm39) probably benign Het
Slc20a1 A T 2: 129,042,202 (GRCm39) N149I probably benign Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav6-7-dv9 A G 14: 53,947,788 (GRCm39) T97A probably benign Het
Ubr2 T C 17: 47,279,365 (GRCm39) Y681C probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r125 A G 4: 156,702,436 (GRCm39) D74G probably benign Het
Yipf2 T C 9: 21,500,941 (GRCm39) probably benign 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
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
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'- TGGCACCCATAACCCTTTG -3'
(R):5'- TAGCCTGTATCTGGACCCTG -3'

Sequencing Primer
(F):5'- CCTTTGGGGTGGGAACATATTC -3'
(R):5'- TCACCAATACGGGACTTAGGG -3'
Posted On 2015-02-18