Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Trpv2'

589770

Institutional Source

Beutler Lab

Gene Symbol

Trpv2

Ensembl Gene

ENSMUSG00000018507

Gene Name

transient receptor potential cation channel, subfamily V, member 2

Synonyms

Vrl1, OTRPC2, VRL-1

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62465312-62491131 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 62481832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018651] [ENSMUST00000102643]

AlphaFold

Q9WTR1

Predicted Effect

probably null
Transcript: ENSMUST00000018651

SMART Domains

Protein: ENSMUSP00000018651
Gene: ENSMUSG00000018507

Domain	Start	End	E-Value	Type
Blast:ANK	70	99	2e-8	BLAST
ANK	111	143	9.33e2	SMART
ANK	158	187	1.83e-3	SMART
ANK	204	233	1.46e2	SMART
Blast:ANK	241	274	1e-10	BLAST
ANK	289	319	3.04e0	SMART
Pfam:Ion_trans	387	652	2.3e-12	PFAM
Blast:PHB	674	726	4e-19	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000102643

SMART Domains

Protein: ENSMUSP00000099703
Gene: ENSMUSG00000018507

Domain	Start	End	E-Value	Type
Blast:ANK	70	99	2e-8	BLAST
ANK	111	143	9.33e2	SMART
ANK	158	187	1.83e-3	SMART
ANK	204	233	1.46e2	SMART
Blast:ANK	241	274	1e-10	BLAST
ANK	289	319	3.04e0	SMART
transmembrane domain	388	410	N/A	INTRINSIC
Pfam:Ion_trans	434	640	8.9e-10	PFAM
Blast:PHB	674	726	4e-19	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage migration, binding, and phagocytosis with increased susceptiblity and mortality following bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	possibly damaging	Het

Other mutations in Trpv2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Trpv2	APN	11	62,483,681 (GRCm39)	missense	probably damaging	1.00
IGL02223:Trpv2	APN	11	62,472,081 (GRCm39)	missense	probably benign	0.00
Playtar	UTSW	11	62,481,086 (GRCm39)	missense	probably damaging	1.00
PIT4576001:Trpv2	UTSW	11	62,472,027 (GRCm39)	missense	probably damaging	1.00
R0008:Trpv2	UTSW	11	62,481,086 (GRCm39)	missense	probably damaging	1.00
R0357:Trpv2	UTSW	11	62,481,130 (GRCm39)	missense	probably damaging	1.00
R0506:Trpv2	UTSW	11	62,473,732 (GRCm39)	missense	probably benign	0.06
R0586:Trpv2	UTSW	11	62,483,596 (GRCm39)	missense	probably benign	0.01
R0690:Trpv2	UTSW	11	62,475,502 (GRCm39)	critical splice donor site	probably null
R1519:Trpv2	UTSW	11	62,480,652 (GRCm39)	critical splice donor site	probably null
R1556:Trpv2	UTSW	11	62,483,059 (GRCm39)	missense	probably damaging	1.00
R1770:Trpv2	UTSW	11	62,487,787 (GRCm39)	missense	probably benign	0.12
R1772:Trpv2	UTSW	11	62,485,052 (GRCm39)	splice site	probably benign
R2143:Trpv2	UTSW	11	62,483,612 (GRCm39)	missense	probably benign	0.05
R4743:Trpv2	UTSW	11	62,483,627 (GRCm39)	missense	probably benign	0.00
R4795:Trpv2	UTSW	11	62,472,006 (GRCm39)	missense	possibly damaging	0.89
R5321:Trpv2	UTSW	11	62,475,397 (GRCm39)	missense	probably damaging	1.00
R6856:Trpv2	UTSW	11	62,475,441 (GRCm39)	missense	probably benign	0.00
R7024:Trpv2	UTSW	11	62,475,287 (GRCm39)	missense	probably benign	0.03
R7168:Trpv2	UTSW	11	62,473,914 (GRCm39)	missense	probably benign	0.19
R7488:Trpv2	UTSW	11	62,480,576 (GRCm39)	missense	probably damaging	1.00
R8215:Trpv2	UTSW	11	62,481,757 (GRCm39)	missense	probably damaging	0.99
R8878:Trpv2	UTSW	11	62,481,112 (GRCm39)	missense	probably benign
R9037:Trpv2	UTSW	11	62,475,231 (GRCm39)	missense	probably damaging	0.99
R9619:Trpv2	UTSW	11	62,480,562 (GRCm39)	missense	probably damaging	1.00
R9664:Trpv2	UTSW	11	62,475,385 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTGGGCAGCTAGTTACTG -3'
(R):5'- CTGCAGTGCCAGAAACACAG -3'

Sequencing Primer
(F):5'- CAGCTAGTTACTGGGGATGGGAC -3'
(R):5'- TCATAGCAGTAAGTGTGCCAG -3'

Posted On

2019-10-24