Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Trpv1'

636271

Institutional Source

Beutler Lab

Gene Symbol

Trpv1

Ensembl Gene

ENSMUSG00000005952

Gene Name

transient receptor potential cation channel, subfamily V, member 1

Synonyms

OTRPC1, VR-1, capsaicin receptor, Vr1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73234292-73261242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73254251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 721 (F721S)

Ref Sequence

ENSEMBL: ENSMUSP00000099585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006106] [ENSMUST00000102526] [ENSMUST00000108470] [ENSMUST00000138853]

AlphaFold

Q704Y3

Predicted Effect

probably damaging
Transcript: ENSMUST00000006106
AA Change: F661S

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

SMART Domains

Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952
AA Change: F661S

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
ANK	154	186	1.6e2	SMART
ANK	201	230	5.62e-4	SMART
ANK	248	277	2.3e0	SMART
Blast:ANK	285	321	4e-8	BLAST
Blast:ANK	334	370	6e-9	BLAST
PDB:3J5R\|D	339	660	N/A	PDB
Blast:PHB	658	704	1e-8	BLAST
PDB:3SUI\|B	708	742	1e-15	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000102526
AA Change: F721S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: F721S

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
ANK	154	186	1.6e2	SMART
ANK	201	230	5.62e-4	SMART
ANK	248	277	2.3e0	SMART
Blast:ANK	285	321	5e-8	BLAST
ANK	333	363	6.17e-1	SMART
Pfam:Ion_trans	432	695	3e-12	PFAM
Blast:PHB	718	764	1e-8	BLAST
PDB:3SUI\|B	768	802	1e-15	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000108470
AA Change: F353S

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

SMART Domains

Protein: ENSMUSP00000104110
Gene: ENSMUSG00000005952
AA Change: F353S

Domain	Start	End	E-Value	Type
Blast:ANK	26	62	4e-9	BLAST
Pfam:Ion_trans	111	315	1.8e-8	PFAM
Blast:PHB	350	396	6e-9	BLAST
PDB:3SUI\|B	400	434	1e-15	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000138853
AA Change: F413S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116400
Gene: ENSMUSG00000005952
AA Change: F413S

Domain	Start	End	E-Value	Type
ANK	25	55	6.17e-1	SMART
Pfam:Ion_trans	171	375	1.8e-8	PFAM
Blast:PHB	410	456	6e-9	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice demonstrate abnormal nociception, abnormal anxiety- and conditioning-related behaviors, increased sensitivity to DOCA-salt-induced renal damage, resistance to diet-induced obesity, altered taste sensitivity, and impaired febrile response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Trpv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Trpv1	APN	11	73260362	missense	probably damaging	0.99
IGL01348:Trpv1	APN	11	73238252	splice site	probably null
IGL01568:Trpv1	APN	11	73238443	missense	probably benign	0.01
IGL01638:Trpv1	APN	11	73253329	missense	probably damaging	0.98
IGL02092:Trpv1	APN	11	73246079	splice site	probably benign
IGL02167:Trpv1	APN	11	73254797	missense	probably damaging	1.00
IGL02649:Trpv1	APN	11	73250786	missense	probably damaging	1.00
IGL03396:Trpv1	APN	11	73253056	missense	probably benign	0.01
IGL03402:Trpv1	APN	11	73239637	missense	possibly damaging	0.73
R0112:Trpv1	UTSW	11	73253272	missense	probably damaging	1.00
R0433:Trpv1	UTSW	11	73253008	splice site	probably benign
R0482:Trpv1	UTSW	11	73239429	missense	probably damaging	1.00
R0494:Trpv1	UTSW	11	73260442	missense	probably benign
R1401:Trpv1	UTSW	11	73240126	splice site	probably null
R2032:Trpv1	UTSW	11	73238385	missense	probably benign
R2199:Trpv1	UTSW	11	73240251	missense	probably damaging	0.96
R2263:Trpv1	UTSW	11	73241682	missense	probably damaging	1.00
R2939:Trpv1	UTSW	11	73254849	missense	probably damaging	0.99
R2940:Trpv1	UTSW	11	73254849	missense	probably damaging	0.99
R3743:Trpv1	UTSW	11	73254302	missense	probably damaging	1.00
R3805:Trpv1	UTSW	11	73253053	missense	probably damaging	0.99
R4073:Trpv1	UTSW	11	73250780	missense	probably damaging	0.96
R4294:Trpv1	UTSW	11	73240464	missense	probably damaging	1.00
R4650:Trpv1	UTSW	11	73238263	missense	probably benign	0.04
R4700:Trpv1	UTSW	11	73251284	missense	possibly damaging	0.47
R5114:Trpv1	UTSW	11	73241748	missense	probably damaging	1.00
R5153:Trpv1	UTSW	11	73238516	missense	probably benign	0.32
R5319:Trpv1	UTSW	11	73239589	missense	probably damaging	0.99
R5516:Trpv1	UTSW	11	73245983	missense	probably benign	0.44
R5845:Trpv1	UTSW	11	73240581	missense	probably damaging	1.00
R6134:Trpv1	UTSW	11	73244317	missense	probably benign	0.01
R6232:Trpv1	UTSW	11	73250810	missense	possibly damaging	0.88
R6383:Trpv1	UTSW	11	73246036	missense	probably damaging	1.00
R7200:Trpv1	UTSW	11	73239586	missense	probably damaging	1.00
R7319:Trpv1	UTSW	11	73250794	missense	probably benign	0.01
R7323:Trpv1	UTSW	11	73260337	missense	possibly damaging	0.82
R7361:Trpv1	UTSW	11	73260377	missense	probably damaging	0.99
R7373:Trpv1	UTSW	11	73240673	missense	probably damaging	1.00
R7444:Trpv1	UTSW	11	73244204	missense	possibly damaging	0.89
R7488:Trpv1	UTSW	11	73238529	missense	probably benign	0.00
R7513:Trpv1	UTSW	11	73240541	missense	probably damaging	1.00
R7762:Trpv1	UTSW	11	73254222	missense	probably benign	0.01
R7991:Trpv1	UTSW	11	73241757	missense	possibly damaging	0.93
R8261:Trpv1	UTSW	11	73254767	critical splice acceptor site	probably null
R8753:Trpv1	UTSW	11	73244256	missense	probably damaging	1.00
R9176:Trpv1	UTSW	11	73239655	missense	probably benign	0.37
R9183:Trpv1	UTSW	11	73244213	missense	possibly damaging	0.87
R9190:Trpv1	UTSW	11	73254322	critical splice donor site	probably null
R9222:Trpv1	UTSW	11	73250855	missense	possibly damaging	0.87
R9241:Trpv1	UTSW	11	73260356	missense	probably benign	0.01
R9508:Trpv1	UTSW	11	73254264	missense
R9727:Trpv1	UTSW	11	73239521	missense	probably damaging	1.00
X0067:Trpv1	UTSW	11	73244201	critical splice acceptor site	probably null
Z1176:Trpv1	UTSW	11	73240188	missense	probably damaging	1.00
Z1176:Trpv1	UTSW	11	73240507	missense	probably damaging	1.00
Z1177:Trpv1	UTSW	11	73254773	missense	probably damaging	1.00
Z1186:Trpv1	UTSW	11	73240601	missense	possibly damaging	0.90
Z1186:Trpv1	UTSW	11	73254291	missense	probably benign	0.12
Z1187:Trpv1	UTSW	11	73240601	missense	possibly damaging	0.90
Z1187:Trpv1	UTSW	11	73254291	missense	probably benign	0.12
Z1188:Trpv1	UTSW	11	73240601	missense	possibly damaging	0.90
Z1188:Trpv1	UTSW	11	73254291	missense	probably benign	0.12
Z1189:Trpv1	UTSW	11	73240601	missense	possibly damaging	0.90
Z1189:Trpv1	UTSW	11	73254291	missense	probably benign	0.12
Z1190:Trpv1	UTSW	11	73240601	missense	possibly damaging	0.90
Z1190:Trpv1	UTSW	11	73254291	missense	probably benign	0.12
Z1191:Trpv1	UTSW	11	73240601	missense	possibly damaging	0.90
Z1191:Trpv1	UTSW	11	73254291	missense	probably benign	0.12
Z1192:Trpv1	UTSW	11	73240601	missense	possibly damaging	0.90
Z1192:Trpv1	UTSW	11	73254291	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TTCCTGGAATTAGCAGGCAGAC -3'
(R):5'- TATGTCTAGCCTCAGGGAGC -3'

Sequencing Primer
(F):5'- ACAGAAAGGCTTGGCTGGTCTC -3'
(R):5'- GAGCCCTGAGCCTGATCTCTAC -3'

Posted On

2020-07-13