Mutagenetix > Incidental Mutations

Incidental Mutation 'R1974:Trpv3'

221457

Institutional Source

Beutler Lab

Gene Symbol

Trpv3

Ensembl Gene

ENSMUSG00000043029

Gene Name

transient receptor potential cation channel, subfamily V, member 3

Synonyms

Nh, VRL3, 1110036I10Rik

MMRRC Submission

039987-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73267388-73300363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73283688 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 294 (S294P)

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 damaging
Transcript: ENSMUST00000049676
AA Change: S294P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: S294P

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,267	L739Q	probably damaging	Het
4933436I01Rik	A	T	X: 67,920,049	Y401*	probably null	Het
Abcg3	A	G	5: 104,963,638	V321A	probably benign	Het
Acad10	C	A	5: 121,626,185	V894L	possibly damaging	Het
Adam9	A	G	8: 24,992,224	I255T	probably damaging	Het
AF529169	T	G	9: 89,601,203	T714P	probably damaging	Het
Ago3	T	C	4: 126,346,751	Y785C	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Akap4	A	G	X: 7,077,356	S633G	probably benign	Het
Alox15	T	A	11: 70,349,973	T194S	probably benign	Het
Amh	T	C	10: 80,806,416	S207P	probably benign	Het
Apc	T	A	18: 34,300,004	C415S	possibly damaging	Het
Atg14	G	A	14: 47,545,841	R346C	probably damaging	Het
Atp5j2	A	T	5: 145,184,579	L64Q	probably damaging	Het
Barhl2	C	G	5: 106,457,313	E177Q	probably benign	Het
C1qtnf5	T	C	9: 44,108,775	V232A	probably damaging	Het
Calr	T	C	8: 84,844,157	I290V	probably benign	Het
Cdh19	G	C	1: 110,890,159	Q618E	possibly damaging	Het
Celsr2	G	T	3: 108,414,214	D427E	probably damaging	Het
Cep250	T	C	2: 155,989,504	S1294P	probably damaging	Het
Chrna7	T	A	7: 63,099,286	T483S	probably damaging	Het
Clmn	A	T	12: 104,791,862	W132R	probably damaging	Het
Cpsf2	G	A	12: 101,990,047	D370N	probably benign	Het
Crnn	T	C	3: 93,149,287	V460A	probably benign	Het
Daam1	T	A	12: 71,988,929	I957N	probably damaging	Het
Defb9	T	C	8: 21,881,889	K36R	probably benign	Het
Dock10	T	A	1: 80,510,426	I2007F	possibly damaging	Het
Dpm1	A	T	2: 168,217,747	V143D	probably damaging	Het
Dync1h1	T	C	12: 110,625,732	V1110A	possibly damaging	Het
Erlec1	T	G	11: 30,939,604	K373N	possibly damaging	Het
Fam160b1	T	C	19: 57,385,377	F690L	probably damaging	Het
Fbxo40	C	T	16: 36,969,941	G269E	probably benign	Het
Fbxw7	T	A	3: 84,954,935	C70S	possibly damaging	Het
Fnbp1	G	T	2: 31,053,047	R280S	probably null	Het
Gapvd1	G	A	2: 34,700,841	R940C	probably damaging	Het
Gfod2	T	C	8: 105,717,510	K134E	possibly damaging	Het
Gm13757	A	T	2: 88,446,509	I143N	probably damaging	Het
Gpi1	A	T	7: 34,220,803		probably null	Het
Grik2	A	T	10: 49,132,827	N721K	possibly damaging	Het
Gsn	G	T	2: 35,301,471	G455V	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Hpse	A	G	5: 100,692,238	S338P	probably damaging	Het
Hyal2	T	C	9: 107,572,172	C376R	probably damaging	Het
Inf2	A	G	12: 112,608,337	T781A	unknown	Het
Iscu	A	G	5: 113,777,018		probably benign	Het
Kcna4	G	A	2: 107,296,220	G433D	possibly damaging	Het
Kir3dl2	T	A	X: 136,456,275	N146I	probably benign	Het
Klrg1	T	A	6: 122,282,762	Q17L	possibly damaging	Het
Krt82	T	G	15: 101,545,162	Q263P	probably benign	Het
Mfrp	T	C	9: 44,106,372	C554R	probably damaging	Het
Mst1r	T	A	9: 107,915,933		probably null	Het
Mst1r	T	C	9: 107,914,763	Y833H	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nipal4	T	C	11: 46,151,383	N157S	probably damaging	Het
Notch2	G	A	3: 98,072,755	G195D	probably damaging	Het
Nrcam	A	T	12: 44,563,993	H492L	probably benign	Het
Olfr433	A	T	1: 174,042,588	I213F	probably damaging	Het
Papln	G	A	12: 83,782,037	R817H	probably damaging	Het
Pcnx2	T	C	8: 125,887,371	E447G	probably benign	Het
Pdp2	T	C	8: 104,593,906	V129A	probably benign	Het
Plch2	A	G	4: 154,984,953	F1072S	possibly damaging	Het
Prag1	T	A	8: 36,102,927	D221E	probably damaging	Het
Prkg1	T	C	19: 31,585,695	D102G	probably damaging	Het
Psme4	T	A	11: 30,819,011	D662E	probably benign	Het
Ptprn	T	C	1: 75,254,820		probably null	Het
Ptprz1	A	G	6: 22,986,311	D370G	probably damaging	Het
Qser1	A	G	2: 104,760,541	S1637P	probably damaging	Het
Sema6a	T	A	18: 47,270,629	H642L	probably benign	Het
Slc30a5	A	T	13: 100,813,953	F209I	probably benign	Het
Slc4a3	G	T	1: 75,552,191	E508*	probably null	Het
Stpg2	C	T	3: 139,309,183	R370*	probably null	Het
Tas2r113	T	A	6: 132,893,833	F275I	probably benign	Het
Tmem132d	T	G	5: 128,269,199	K86N	probably damaging	Het
Tpgs2	A	T	18: 25,140,536	F189L	probably damaging	Het
Trmt6	A	G	2: 132,811,048	S104P	probably damaging	Het
Ugt2b36	A	G	5: 87,080,868		probably null	Het
Vmn1r170	A	T	7: 23,606,481	M103L	probably benign	Het
Vmn2r107	T	A	17: 20,355,617		probably null	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Vmn2r77	T	C	7: 86,800,756	V70A	probably benign	Het

Other mutations in Trpv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Trpv3	APN	11	73294000	critical splice donor site	probably null
IGL01161:Trpv3	APN	11	73296718	splice site	probably benign
IGL02130:Trpv3	APN	11	73279770	missense	probably benign	0.00
IGL02957:Trpv3	APN	11	73285872	missense	probably damaging	1.00
IGL03334:Trpv3	APN	11	73281665	splice site	probably benign
R0103:Trpv3	UTSW	11	73293979	missense	probably damaging	1.00
R0103:Trpv3	UTSW	11	73293979	missense	probably damaging	1.00
R0546:Trpv3	UTSW	11	73297187	missense	probably damaging	1.00
R0685:Trpv3	UTSW	11	73296814	splice site	probably benign
R0969:Trpv3	UTSW	11	73278938	nonsense	probably null
R1748:Trpv3	UTSW	11	73295383	missense	possibly damaging	0.84
R2015:Trpv3	UTSW	11	73279827	missense	probably damaging	0.97
R3426:Trpv3	UTSW	11	73285941	missense	probably damaging	1.00
R3427:Trpv3	UTSW	11	73285941	missense	probably damaging	1.00
R3428:Trpv3	UTSW	11	73285941	missense	probably damaging	1.00
R3618:Trpv3	UTSW	11	73295455	missense	probably damaging	1.00
R3712:Trpv3	UTSW	11	73278954	missense	probably benign
R3916:Trpv3	UTSW	11	73283734	missense	possibly damaging	0.87
R3917:Trpv3	UTSW	11	73283734	missense	possibly damaging	0.87
R3961:Trpv3	UTSW	11	73287420	nonsense	probably null
R4242:Trpv3	UTSW	11	73277823	missense	probably benign	0.43
R4277:Trpv3	UTSW	11	73296438	missense	probably damaging	0.97
R4506:Trpv3	UTSW	11	73295324	missense	probably benign	0.40
R4629:Trpv3	UTSW	11	73281789	missense	probably damaging	0.99
R4656:Trpv3	UTSW	11	73295414	missense	probably damaging	1.00
R5059:Trpv3	UTSW	11	73295323	missense	probably benign	0.00
R5121:Trpv3	UTSW	11	73277834	critical splice donor site	probably null
R6113:Trpv3	UTSW	11	73286018	missense	probably benign	0.10
R6130:Trpv3	UTSW	11	73296483	missense	possibly damaging	0.49
R6342:Trpv3	UTSW	11	73283863	missense	probably damaging	1.00
R6850:Trpv3	UTSW	11	73291693	missense	probably damaging	1.00
R7180:Trpv3	UTSW	11	73277992	missense	probably benign
R7434:Trpv3	UTSW	11	73288261	missense	probably damaging	0.96
R7440:Trpv3	UTSW	11	73277974	missense	probably benign	0.37
R7741:Trpv3	UTSW	11	73288262	missense	probably damaging	0.99
R7750:Trpv3	UTSW	11	73286021	missense	probably damaging	0.99
R7785:Trpv3	UTSW	11	73277732	missense	probably benign	0.43
R8309:Trpv3	UTSW	11	73279921	missense	probably damaging	1.00
R8354:Trpv3	UTSW	11	73291622	missense	probably damaging	1.00
R8383:Trpv3	UTSW	11	73289301	missense	probably benign	0.30
R8443:Trpv3	UTSW	11	73295383	missense	possibly damaging	0.84
R8454:Trpv3	UTSW	11	73291622	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTCACTGAGCAAAGGGGAG -3'
(R):5'- AGAAGTGCACCACGTTTCCC -3'

Sequencing Primer
(F):5'- CTGTGATGGCCAGCATCTG -3'
(R):5'- AGCCCCCACATCTGCTG -3'

Posted On

2014-08-25