Mutagenetix > Incidental Mutation

Incidental Mutation 'R6342:Trpv3'

513925

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

044496-MU

Accession Numbers

Essential gene?

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

Stock #

R6342 (G1)

Quality Score

122.008

Status

Validated

Chromosome

Chromosomal Location

73158315-73191194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73174689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 352 (G352D)

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: G352D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: G352D

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (31/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa9	T	C	3: 95,204,101 (GRCm39)	*346W	probably null	Het
Ap4b1	T	C	3: 103,720,684 (GRCm39)	V118A	possibly damaging	Het
Atrnl1	T	C	19: 57,626,942 (GRCm39)	S183P	probably damaging	Het
Cadm3	T	C	1: 173,168,675 (GRCm39)	T298A	possibly damaging	Het
Crtc1	A	C	8: 70,892,207 (GRCm39)	M1R	probably null	Het
Dalrd3	A	T	9: 108,448,322 (GRCm39)	K291*	probably null	Het
Dhrs9	C	T	2: 69,223,531 (GRCm39)	T93M	probably benign	Het
Dnmt1	G	T	9: 20,821,089 (GRCm39)	S1267*	probably null	Het
Dsg1b	T	C	18: 20,523,300 (GRCm39)	I109T	probably damaging	Het
Epha3	C	A	16: 63,403,863 (GRCm39)	R745L	probably damaging	Het
Evi2	A	G	11: 79,406,784 (GRCm39)	S264P	probably benign	Het
Grin2a	A	T	16: 9,397,198 (GRCm39)	L963Q	probably damaging	Het
Klhdc7a	T	A	4: 139,694,370 (GRCm39)	R192S	probably benign	Het
Kynu	G	T	2: 43,571,463 (GRCm39)	D460Y	probably benign	Het
Lrfn2	G	A	17: 49,404,028 (GRCm39)	G717D	probably benign	Het
Lrp3	C	T	7: 34,901,731 (GRCm39)	D696N	probably benign	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or51a5	T	C	7: 102,771,563 (GRCm39)	T143A	probably damaging	Het
Rad17	A	T	13: 100,755,644 (GRCm39)	I579N	probably damaging	Het
Rif1	T	A	2: 52,009,168 (GRCm39)	Y2316N	probably damaging	Het
Ros1	T	A	10: 52,031,351 (GRCm39)	D430V	probably damaging	Het
Rp9	A	T	9: 22,361,154 (GRCm39)	H44Q	probably damaging	Het
Rtl1	T	C	12: 109,558,735 (GRCm39)	T1035A	possibly damaging	Het
Slc2a5	A	C	4: 150,223,983 (GRCm39)	D225A	possibly damaging	Het
Tlx3	A	T	11: 33,152,567 (GRCm39)	V176E	possibly damaging	Het
Ubr4	C	A	4: 139,156,850 (GRCm39)	H2292N	possibly damaging	Het
Wee2	A	G	6: 40,421,189 (GRCm39)	H93R	probably benign	Het
Xirp2	T	G	2: 67,341,994 (GRCm39)	L1412V	possibly damaging	Het
Zfat	T	C	15: 68,052,831 (GRCm39)	H321R	probably damaging	Het
Zfp623	C	A	15: 75,819,837 (GRCm39)	C264*	probably null	Het
Zfp687	G	C	3: 94,919,188 (GRCm39)	P195A	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
R4242:Trpv3	UTSW	11	73,168,649 (GRCm39)	missense	probably benign	0.43
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
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'- GCAGCTGCTGATGGAGAATG -3'
(R):5'- AACTCAGGGGTGCAGGATTG -3'

Sequencing Primer
(F):5'- GACATCACTTCCCAGGATTCCCG -3'
(R):5'- CAGGGGTGCAGGATTGATGTC -3'

Posted On

2018-04-27