Mutagenetix > Incidental Mutation

Incidental Mutation 'R7024:Trpv2'

545850

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

045125-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R7024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62465312-62491131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62475287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 233 (S233R)

Ref Sequence

ENSEMBL: ENSMUSP00000099703 (fasta)

Gene Model

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

AlphaFold

Q9WTR1

Predicted Effect

probably benign
Transcript: ENSMUST00000018651
AA Change: S233R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000018651
Gene: ENSMUSG00000018507
AA Change: S233R

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 benign
Transcript: ENSMUST00000102643
AA Change: S233R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099703
Gene: ENSMUSG00000018507
AA Change: S233R

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,108 (GRCm39)	S128P	probably damaging	Het
Abcc1	G	C	16: 14,231,247 (GRCm39)		probably null	Het
Atg2a	G	A	19: 6,300,249 (GRCm39)	G686S	possibly damaging	Het
Atrnl1	A	T	19: 57,626,882 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,440,884 (GRCm39)		probably benign	Het
Camsap3	A	G	8: 3,658,242 (GRCm39)	E688G	probably damaging	Het
Cc2d2a	T	A	5: 43,891,271 (GRCm39)	S1402R	probably benign	Het
Ccnb1	A	G	13: 100,922,888 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,292,519 (GRCm39)	H339Y	probably damaging	Het
Ciart	T	A	3: 95,786,392 (GRCm39)	T94S	probably benign	Het
Col6a5	T	A	9: 105,789,674 (GRCm39)	K1540*	probably null	Het
Csmd3	A	T	15: 47,574,387 (GRCm39)	V1969E	probably damaging	Het
Dgka	T	G	10: 128,556,356 (GRCm39)	N710T	probably damaging	Het
Dock6	A	G	9: 21,731,666 (GRCm39)	V1212A	probably benign	Het
Dync2i2	A	G	2: 29,928,278 (GRCm39)	V116A	possibly damaging	Het
En1	C	T	1: 120,531,051 (GRCm39)	P97L	unknown	Het
Esd	T	A	14: 74,982,102 (GRCm39)	F172L	probably damaging	Het
Gfer	C	A	17: 24,914,942 (GRCm39)	D34Y	probably damaging	Het
Gm2832	G	A	14: 41,001,696 (GRCm39)	M68I		Het
Hmgcr	A	G	13: 96,795,418 (GRCm39)	S384P	probably benign	Het
Hsp90aa1	T	C	12: 110,660,546 (GRCm39)	T299A	possibly damaging	Het
Igsf10	A	G	3: 59,239,122 (GRCm39)	M353T	probably benign	Het
Ino80b	T	C	6: 83,099,306 (GRCm39)	T211A	probably benign	Het
Lamb2	C	A	9: 108,366,687 (GRCm39)	T1607K	probably benign	Het
Lhfpl5	A	G	17: 28,801,957 (GRCm39)	E218G	probably benign	Het
Lpo	C	A	11: 87,707,269 (GRCm39)	C248F	probably damaging	Het
Lrrc3	C	T	10: 77,736,825 (GRCm39)	D204N	probably damaging	Het
Mavs	C	A	2: 131,085,051 (GRCm39)	L160I	probably benign	Het
Morn4	C	T	19: 42,066,483 (GRCm39)	D35N	possibly damaging	Het
Mroh8	G	A	2: 157,063,183 (GRCm39)	H813Y	probably benign	Het
Myf6	T	C	10: 107,330,390 (GRCm39)	E59G	probably damaging	Het
Nhsl3	T	A	4: 129,119,201 (GRCm39)	E173V	probably null	Het
Nlrp10	T	A	7: 108,524,405 (GRCm39)	E358D	possibly damaging	Het
Odad2	A	C	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Optn	T	C	2: 5,057,648 (GRCm39)		probably null	Het
Or12e8	A	G	2: 87,188,066 (GRCm39)	T93A	probably benign	Het
Or13a19	T	C	7: 139,902,759 (GRCm39)	I49T	possibly damaging	Het
Or1e1d-ps1	T	A	11: 73,819,332 (GRCm39)	L94*	probably null	Het
Or1o1	T	C	17: 37,717,095 (GRCm39)	F219L	probably benign	Het
Or5g9	T	A	2: 85,551,952 (GRCm39)	F68I	probably damaging	Het
Or7g28	T	C	9: 19,272,579 (GRCm39)	E24G	possibly damaging	Het
Plxna4	T	A	6: 32,169,204 (GRCm39)	H1331L	probably damaging	Het
Poli	A	T	18: 70,649,920 (GRCm39)	M357K	possibly damaging	Het
Psd4	T	G	2: 24,284,555 (GRCm39)	C140G	possibly damaging	Het
Rab3gap1	T	A	1: 127,818,835 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,681,826 (GRCm39)	N41S	probably benign	Het
Rps6kc1	A	G	1: 190,532,407 (GRCm39)	S532P	probably benign	Het
S100a3	T	A	3: 90,509,747 (GRCm39)		probably null	Het
Sfrp5	T	C	19: 42,190,204 (GRCm39)	K83E	possibly damaging	Het
Slco1a4	T	C	6: 141,780,434 (GRCm39)	I119V	probably benign	Het
Snx15	T	A	19: 6,170,626 (GRCm39)	Q271L	probably damaging	Het
Sorcs2	C	A	5: 36,178,605 (GRCm39)	S1128I	probably damaging	Het
Tbc1d7	A	T	13: 43,308,211 (GRCm39)	F85I	probably damaging	Het
Thoc7	A	G	14: 13,953,528 (GRCm38)	Y46H	probably damaging	Het
Top1mt	T	A	15: 75,539,297 (GRCm39)	Y366F	probably damaging	Het
Vav1	C	A	17: 57,586,268 (GRCm39)	T24N	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy4	G	T	14: 32,686,583 (GRCm39)		probably null	Het
Wdr3	A	G	3: 100,062,313 (GRCm39)	S201P	probably benign	Het
Wfs1	C	T	5: 37,124,294 (GRCm39)	D866N	probably damaging	Het
Wnk1	A	T	6: 119,942,687 (GRCm39)		probably benign	Het
Xpot	G	T	10: 121,438,304 (GRCm39)	Q762K	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	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
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
R7633:Trpv2	UTSW	11	62,481,832 (GRCm39)	critical splice donor site	probably null
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'- TTGATCTGCCTCAGGGACAC -3'
(R):5'- GCCTTGATGGTTGCAGATATCC -3'

Sequencing Primer
(F):5'- GAGACATAGTTTCCCTGTGAAGCC -3'
(R):5'- CAGATATCCTCAAGCTGTACAGTGG -3'

Posted On

2019-05-13