Mutagenetix > Incidental Mutation

Incidental Mutation 'R4242:Trpv3'

320255

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

041059-MU

Accession Numbers

Essential gene?

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

Stock #

R4242 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73158315-73191194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73168649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 72 (I72T)

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
AA Change: I72T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: I72T

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

0.0630

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (35/35)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	C	T	5: 105,109,079 (GRCm39)	R406H	probably benign	Het
Blcap	T	A	2: 157,402,343 (GRCm39)		probably benign	Het
Chd1	C	T	17: 15,990,289 (GRCm39)	R1614*	probably null	Het
Col6a2	C	T	10: 76,443,940 (GRCm39)		probably null	Het
Csnk1e	A	G	15: 79,309,095 (GRCm39)	F277S	probably damaging	Het
Dock5	T	C	14: 68,065,939 (GRCm39)	T355A	probably benign	Het
Dst	G	A	1: 34,045,297 (GRCm39)	C148Y	possibly damaging	Het
Faim2	T	A	15: 99,398,082 (GRCm39)	I289F	probably damaging	Het
Gm4841	A	G	18: 60,403,755 (GRCm39)	S113P	probably benign	Het
Heatr5b	A	G	17: 79,064,351 (GRCm39)	S1879P	probably benign	Het
Igll1	C	A	16: 16,681,564 (GRCm39)	G64C	probably benign	Het
Klhdc7a	G	A	4: 139,694,032 (GRCm39)	P305L	probably benign	Het
Klhl13	T	A	X: 23,181,414 (GRCm39)	D2V	probably damaging	Het
Kmt2e	T	C	5: 23,707,820 (GRCm39)		probably benign	Het
Lrmda	C	A	14: 22,077,303 (GRCm39)	Y13*	probably null	Het
Mad2l1bp	T	C	17: 46,463,913 (GRCm39)	E37G	possibly damaging	Het
Mphosph8	T	C	14: 56,911,771 (GRCm39)	S265P	probably benign	Het
Mpl	T	A	4: 118,313,968 (GRCm39)	D99V	probably damaging	Het
Notch3	C	T	17: 32,362,719 (GRCm39)	G1302D	possibly damaging	Het
Odaph	A	G	5: 92,142,749 (GRCm39)	I104V	probably benign	Het
Or10a48	A	G	7: 108,424,666 (GRCm39)	V180A	probably benign	Het
Or2a25	A	T	6: 42,888,480 (GRCm39)	I8F	possibly damaging	Het
Pde6c	G	A	19: 38,151,293 (GRCm39)	G608S	probably damaging	Het
Phf20	A	G	2: 156,149,374 (GRCm39)		probably benign	Het
Pkdrej	C	T	15: 85,702,345 (GRCm39)	R1197Q	probably damaging	Het
Prex2	C	T	1: 11,226,528 (GRCm39)	H764Y	probably benign	Het
Rtel1	T	C	2: 180,991,727 (GRCm39)	F375S	probably damaging	Het
Spanxn4	T	C	12: 62,734,983 (GRCm39)		noncoding transcript	Het
Taf1	T	C	X: 100,588,109 (GRCm39)	I457T	probably benign	Het
Tle3	A	T	9: 61,314,705 (GRCm39)	M233L	probably benign	Het
Vmn1r237	A	G	17: 21,534,925 (GRCm39)	H216R	possibly damaging	Het
Xpnpep3	T	A	15: 81,311,857 (GRCm39)	F188I	probably benign	Het
Zfp69	G	A	4: 120,791,672 (GRCm39)		probably benign	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
R4277:Trpv3	UTSW	11	73,187,264 (GRCm39)	missense	probably damaging	0.97
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'- TAGGCTAGGACAGATGGCAC -3'
(R):5'- GGGTCTCTGTCACATCATCCTG -3'

Sequencing Primer
(F):5'- TGGCACAAAGTCTAGGGCTC -3'
(R):5'- TGTCACATCATCCTGAGGAGACTG -3'

Posted On

2015-06-12