Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02130:Trpv3'

281006

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpv3

Ensembl Gene

ENSMUSG00000043029

Gene Name

transient receptor potential cation channel, subfamily V, member 3

Synonyms

Nh, VRL3, 1110036I10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02130

Quality Score

Status

Chromosome

Chromosomal Location

73267388-73300363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73279770 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 159 (M159L)

Ref Sequence

ENSEMBL: ENSMUSP00000053755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049676]

PDB Structure

Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000049676
AA Change: M159L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029
AA Change: M159L

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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l1	A	T	12: 33,342,142	K239M	probably damaging	Het
Cep164	T	C	9: 45,779,792	E1230G	possibly damaging	Het
Fas	A	G	19: 34,315,295	T101A	probably benign	Het
Fcnb	A	G	2: 28,084,789		probably null	Het
Gm14325	A	G	2: 177,834,652		probably benign	Het
Gm4877	A	T	6: 42,520,057		noncoding transcript	Het
Heyl	T	C	4: 123,246,271	S208P	probably benign	Het
Ighv10-3	A	T	12: 114,523,501	L100H	probably damaging	Het
Irs1	T	C	1: 82,289,467	S343G	probably damaging	Het
Lrriq4	T	A	3: 30,650,747	V293E	probably damaging	Het
Mbd3l1	A	T	9: 18,484,727	R49S	probably damaging	Het
Mdga1	A	G	17: 29,857,669	I43T	possibly damaging	Het
N4bp3	T	C	11: 51,643,946	E430G	possibly damaging	Het
Olfml3	A	G	3: 103,736,967	Y129H	probably benign	Het
Olfr1233	C	A	2: 89,339,583	V240F	probably damaging	Het
Olfr870	A	G	9: 20,171,358	I71T	probably damaging	Het
Prex2	T	A	1: 11,160,162	V804E	probably damaging	Het
Prex2	T	C	1: 11,112,799	V424A	probably damaging	Het
Rnf103	T	C	6: 71,509,564	L393S	probably damaging	Het
Rnf20	T	C	4: 49,644,481		probably benign	Het
Slc25a16	A	G	10: 62,944,358	I299V	probably benign	Het
Tmprss2	A	T	16: 97,590,889	C5S	probably damaging	Het
Vmn2r45	A	T	7: 8,483,557	M244K	possibly 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
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
R8701:Trpv3	UTSW	11	73278936	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

Posted On

2015-04-16