Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Trpv3'

61135

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

038870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0685 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

73267388-73300363 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 73296814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000049676

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

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
1700020N01Rik	A	G	10: 21,593,438	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450		probably benign	Het
Aoc3	A	G	11: 101,336,447	D382G	possibly damaging	Het
Apob	C	A	12: 8,010,742	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542		probably null	Het
Clstn1	G	A	4: 149,646,855	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192	V3633A	probably damaging	Het
Elp4	C	A	2: 105,792,277	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318		probably benign	Het
Gm884	T	C	11: 103,616,888		probably benign	Het
Gm9955	G	T	18: 24,709,257		probably benign	Het
Gstm5	T	A	3: 107,897,319	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702		probably benign	Het
Hectd2	T	A	19: 36,569,431	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,680,559	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kiz	C	A	2: 146,856,058		probably benign	Het
Lcmt2	C	A	2: 121,139,240	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957		probably benign	Het
Lin37	T	C	7: 30,555,874	E187G	probably damaging	Het
Mcmdc2	T	A	1: 9,911,814		probably null	Het
Mctp1	T	C	13: 76,825,799		probably null	Het
Mdp1	C	A	14: 55,659,269	G112*	probably null	Het
Mmp15	T	C	8: 95,372,134	Y530H	possibly damaging	Het
Mtss1l	T	C	8: 110,727,397		probably null	Het
Muc5ac	T	C	7: 141,807,709	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855	Q1237K	possibly damaging	Het
Olfr1160	T	C	2: 88,006,418	E111G	probably damaging	Het
Olfr495	A	T	7: 108,395,263	T48S	possibly damaging	Het
Orc6	T	G	8: 85,301,154	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991	D443G	possibly damaging	Het
Psen1	C	A	12: 83,714,820	S132*	probably null	Het
Psme4	A	G	11: 30,878,415	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482		probably benign	Het
Reep3	A	G	10: 67,021,739		probably benign	Het
Rexo4	A	T	2: 26,958,574		probably benign	Het
Rnf6	A	C	5: 146,211,658	S183R	probably damaging	Het
Scai	A	T	2: 39,103,737	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710	C772R	possibly damaging	Het
Skint7	T	C	4: 111,980,345	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854	R281Q	probably benign	Het
Tars	T	C	15: 11,385,173	K644R	probably benign	Het
Tctex1d1	T	C	4: 103,002,538	Y96H	probably damaging	Het
Tinag	C	A	9: 76,952,003	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725	V1670A	possibly damaging	Het
Uhrf1	G	T	17: 56,310,742	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638		probably benign	Het
Zcwpw1	A	G	5: 137,799,592	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717	H232L	probably damaging	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
R0969:Trpv3	UTSW	11	73278938	nonsense	probably null
R1748:Trpv3	UTSW	11	73295383	missense	possibly damaging	0.84
R1974:Trpv3	UTSW	11	73283688	missense	probably damaging	0.99
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
R8492:Trpv3	UTSW	11	73288209	nonsense	probably null
R8556:Trpv3	UTSW	11	73287465	missense	probably benign
R8701:Trpv3	UTSW	11	73278936	missense	possibly damaging	0.84
R9046:Trpv3	UTSW	11	73285872	missense	probably damaging	1.00
R9431:Trpv3	UTSW	11	73287399	missense	probably benign
R9492:Trpv3	UTSW	11	73296441	missense	probably damaging	0.99
R9748:Trpv3	UTSW	11	73283673	missense	possibly damaging	0.84
Z1186:Trpv3	UTSW	11	73269687	missense	probably benign
Z1186:Trpv3	UTSW	11	73278977	missense	probably benign
Z1186:Trpv3	UTSW	11	73283676	missense	probably benign
Z1187:Trpv3	UTSW	11	73269687	missense	probably benign
Z1187:Trpv3	UTSW	11	73278977	missense	probably benign
Z1187:Trpv3	UTSW	11	73283676	missense	probably benign
Z1188:Trpv3	UTSW	11	73269687	missense	probably benign
Z1188:Trpv3	UTSW	11	73278977	missense	probably benign
Z1188:Trpv3	UTSW	11	73283676	missense	probably benign
Z1189:Trpv3	UTSW	11	73269687	missense	probably benign
Z1189:Trpv3	UTSW	11	73278977	missense	probably benign
Z1189:Trpv3	UTSW	11	73283676	missense	probably benign
Z1190:Trpv3	UTSW	11	73269687	missense	probably benign
Z1190:Trpv3	UTSW	11	73278977	missense	probably benign
Z1190:Trpv3	UTSW	11	73283676	missense	probably benign
Z1191:Trpv3	UTSW	11	73269687	missense	probably benign
Z1191:Trpv3	UTSW	11	73278977	missense	probably benign
Z1191:Trpv3	UTSW	11	73283676	missense	probably benign
Z1192:Trpv3	UTSW	11	73269687	missense	probably benign
Z1192:Trpv3	UTSW	11	73278977	missense	probably benign
Z1192:Trpv3	UTSW	11	73283676	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGACGTGGGTAGGATCAGCAAAC -3'
(R):5'- TGGTACTGAGGCTAGAACCAAGGAC -3'

Sequencing Primer
(F):5'- GAGGTTGGAGCATCCCTG -3'
(R):5'- GGCTAGAACCAAGGACCTAAGC -3'

Posted On

2013-07-30