Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Trpv3'

669084

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73267388-73300363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73278936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 111 (E111G)

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: E111G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: E111G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	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
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
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'- GAACACAAACATGGGCATCG -3'
(R):5'- CAATATCCAAGGTGCCTCATGC -3'

Sequencing Primer
(F):5'- CAAACATGGGCATCGGCAAAG -3'
(R):5'- GAGCAGGGTTCAAGCCAACC -3'

Posted On

2021-04-30