Mutagenetix > Incidental Mutation

Incidental Mutation 'R4277:Trpv3'

322746

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

041078-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R4277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73158315-73191194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73187264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 699 (T699A)

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: T699A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: T699A

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

Meta Mutation Damage Score

0.1949

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (33/33)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,397,955 (GRCm39)		probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Cdh20	T	A	1: 109,993,418 (GRCm39)	I291K	probably benign	Het
Cdhr3	T	G	12: 33,110,232 (GRCm39)	S351R	probably null	Het
Dnah10	T	C	5: 124,809,394 (GRCm39)	S221P	probably benign	Het
Dstyk	G	A	1: 132,383,151 (GRCm39)		probably null	Het
Ern1	T	C	11: 106,298,007 (GRCm39)	I705V	probably benign	Het
Folh1	A	G	7: 86,412,123 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,205,728 (GRCm39)	Y260H	possibly damaging	Het
Jmjd8	A	G	17: 26,048,787 (GRCm39)		probably benign	Het
Ldhc	G	A	7: 46,515,890 (GRCm39)	A62T	probably benign	Het
Ndufs1	C	T	1: 63,209,256 (GRCm39)	V36I	possibly damaging	Het
Nsun4	C	T	4: 115,891,479 (GRCm39)	G300D	probably damaging	Het
Nsun5	A	G	5: 135,398,914 (GRCm39)	Y26C	probably damaging	Het
Ntn4	T	C	10: 93,577,072 (GRCm39)	I580T	possibly damaging	Het
Or7d10	A	G	9: 19,831,685 (GRCm39)	Y60C	possibly damaging	Het
Rasal2	A	T	1: 156,984,696 (GRCm39)	I992N	possibly damaging	Het
Rasgrp4	T	A	7: 28,852,019 (GRCm39)		probably benign	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spp2	T	C	1: 88,338,873 (GRCm39)	F79L	probably damaging	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vegfa	A	G	17: 46,342,392 (GRCm39)	V142A	probably benign	Het
Vnn1	A	T	10: 23,774,410 (GRCm39)	D151V	possibly damaging	Het

Other mutations in Trpv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R3428: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
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'- CCAGACATACTATTCATGTCAAGCTG -3'
(R):5'- AGACACAGGGATGCTCCAAC -3'

Sequencing Primer
(F):5'- ACTATTCATGTCAAGCTGAAAGC -3'
(R):5'- AGGGATGCTCCAACCTCCTG -3'

Posted On

2015-06-20