Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01084:Trpv3'

52248

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

VRL3, 1110036I10Rik, Nh

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL01084

Quality Score

Status

Chromosome

Chromosomal Location

73158315-73191194 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 73184826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000049676

SMART Domains

Protein: ENSMUSP00000053755
Gene: ENSMUSG00000043029

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,546,901 (GRCm39)	Q284K	probably damaging	Het
Adgrd1	A	T	5: 129,216,656 (GRCm39)	N341I	probably benign	Het
Arhgap40	T	C	2: 158,385,138 (GRCm39)	F457S	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Catsper1	G	A	19: 5,387,800 (GRCm39)	V360M	probably damaging	Het
Cdc42bpa	T	A	1: 179,969,839 (GRCm39)		probably benign	Het
Cep250	C	T	2: 155,840,313 (GRCm39)	H2424Y	probably benign	Het
Cln3	T	C	7: 126,174,426 (GRCm39)	E304G	probably damaging	Het
Eml2	T	A	7: 18,924,663 (GRCm39)	C177*	probably null	Het
Epha5	G	A	5: 84,218,946 (GRCm39)	R917*	probably null	Het
Gabra2	A	G	5: 71,163,576 (GRCm39)	F244L	probably damaging	Het
Gars1	C	A	6: 55,032,812 (GRCm39)	D261E	probably benign	Het
Gata3os	A	G	2: 9,887,884 (GRCm39)		probably benign	Het
Keg1	A	G	19: 12,691,976 (GRCm39)	K98E	probably damaging	Het
Kif13a	A	G	13: 46,904,110 (GRCm39)		probably benign	Het
Matn1	A	G	4: 130,679,245 (GRCm39)	K300E	probably benign	Het
Mesp1	A	G	7: 79,442,831 (GRCm39)	S149P	probably benign	Het
Mmp10	T	C	9: 7,505,651 (GRCm39)	V305A	possibly damaging	Het
Muc5b	T	C	7: 141,397,186 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,924,884 (GRCm39)	T1181A	probably damaging	Het
Or1r1	A	T	11: 73,875,353 (GRCm39)	L27Q	probably damaging	Het
Or5d35	T	C	2: 87,855,347 (GRCm39)	S94P	probably benign	Het
Or9i16	G	T	19: 13,864,866 (GRCm39)	T236N	probably damaging	Het
Osbpl11	T	C	16: 33,047,221 (GRCm39)		probably benign	Het
Prune2	T	C	19: 17,095,573 (GRCm39)	V359A	probably benign	Het
Ptch1	T	A	13: 63,691,451 (GRCm39)	E267D	probably damaging	Het
Rbl2	A	G	8: 91,848,941 (GRCm39)	E1049G	probably damaging	Het
Ruvbl2	A	T	7: 45,071,947 (GRCm39)		probably null	Het
Sec23b	A	G	2: 144,406,509 (GRCm39)	I101M	possibly damaging	Het
Srms	A	C	2: 180,848,177 (GRCm39)		probably null	Het
Svep1	T	A	4: 58,111,419 (GRCm39)	T1067S	possibly damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem127	T	C	2: 127,099,006 (GRCm39)	V180A	probably damaging	Het
Trpm7	A	G	2: 126,687,992 (GRCm39)		probably null	Het
Tti1	C	T	2: 157,824,379 (GRCm39)	V1025I	probably damaging	Het
Vmn2r80	A	G	10: 79,030,433 (GRCm39)	Y753C	probably damaging	Het
Vps13d	A	G	4: 144,881,525 (GRCm39)	L1350S	probably benign	Het
Zfp287	G	T	11: 62,604,716 (GRCm39)	Y730*	probably null	Het
Zfp583	A	G	7: 6,320,184 (GRCm39)	F276S	probably damaging	Het
Zfp638	T	C	6: 83,921,780 (GRCm39)	Y636H	probably benign	Het

Other mutations in Trpv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21