|Institutional Source||Beutler Lab|
|Gene Name||transient receptor potential cation channel, subfamily V, member 3|
|Synonyms||Nh, VRL3, 1110036I10Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.087)|
|Stock #||R4506 (G1)|
|Chromosomal Location||73267388-73300363 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 73295324 bp|
|Amino Acid Change||Asparagine to Serine at position 647 (N647S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053755 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049676]|
|PDB Structure||Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 [X-RAY DIFFRACTION]|
|Predicted Effect||probably benign
AA Change: N647S
PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
AA Change: N647S
|Meta Mutation Damage Score||0.1689|
|Coding Region Coverage||
|Validation Efficiency||98% (42/43)|
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||
|Other mutations in Trpv3||
(F):5'- ACACACGAGTTGTCTGGGTG -3'
(R):5'- TGCTGTGCAAAACCTCACG -3'
(F):5'- TGGCCAGACAGCATTGC -3'
(R):5'- ACCTCACGATGACGAGCTG -3'