Mutagenetix > Incidental Mutation

Incidental Mutation 'R4700:Trpv1'

355948

Institutional Source

Beutler Lab

Gene Symbol

Trpv1

Ensembl Gene

ENSMUSG00000005952

Gene Name

transient receptor potential cation channel, subfamily V, member 1

Synonyms

VR-1, capsaicin receptor, Vr1, OTRPC1

MMRRC Submission

041948-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R4700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73125118-73152068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73142110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 214 (M214L)

Ref Sequence

ENSEMBL: ENSMUSP00000104110 (fasta)

Gene Model

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

AlphaFold

Q704Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000006106
AA Change: M522L

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

SMART Domains

Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952
AA Change: M522L

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 benign
Transcript: ENSMUST00000102526
AA Change: M582L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: M582L

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

possibly damaging
Transcript: ENSMUST00000108470
AA Change: M214L

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104110
Gene: ENSMUSG00000005952
AA Change: M214L

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

noncoding transcript
Transcript: ENSMUST00000128113

Predicted Effect

probably benign
Transcript: ENSMUST00000138853
AA Change: M274L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116400
Gene: ENSMUSG00000005952
AA Change: M274L

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

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (127/131)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,742,795 (GRCm39)		probably benign	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abca14	T	A	7: 119,911,928 (GRCm39)		probably null	Het
Abca8a	A	C	11: 109,961,308 (GRCm39)	V538G	probably damaging	Het
Acy1	C	T	9: 106,310,782 (GRCm39)	G329R	probably benign	Het
Adamts17	T	C	7: 66,691,636 (GRCm39)	C607R	probably damaging	Het
Adamts20	A	T	15: 94,292,503 (GRCm39)	C202*	probably null	Het
Adcy5	A	G	16: 35,099,586 (GRCm39)	N712S	possibly damaging	Het
Ahnak	A	G	19: 8,982,045 (GRCm39)	K1110E	probably benign	Het
Anks6	T	A	4: 47,033,127 (GRCm39)	H578L	possibly damaging	Het
Appl1	C	A	14: 26,647,928 (GRCm39)	L626F	probably benign	Het
Arl1	A	G	10: 88,566,499 (GRCm39)		probably benign	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Carm1	A	G	9: 21,498,480 (GRCm39)	N466S	probably benign	Het
Cbl	A	G	9: 44,084,677 (GRCm39)	S153P	probably damaging	Het
Ccdc159	A	G	9: 21,839,027 (GRCm39)		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc7	T	C	5: 107,121,707 (GRCm39)	F207L	probably benign	Het
Celsr2	T	C	3: 108,304,547 (GRCm39)	R2271G	probably benign	Het
Cep162	T	C	9: 87,088,915 (GRCm39)	Q989R	probably damaging	Het
Cep89	A	G	7: 35,137,862 (GRCm39)	T749A	probably benign	Het
Clcn5	T	C	X: 7,032,591 (GRCm39)		probably null	Het
Clu	A	T	14: 66,217,313 (GRCm39)	Y382F	probably benign	Het
Cnih4	A	G	1: 180,993,808 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,126,509 (GRCm39)	L1340P	probably damaging	Het
Ddx4	T	C	13: 112,750,269 (GRCm39)	T421A	probably damaging	Het
Dennd5a	T	C	7: 109,520,405 (GRCm39)	E484G	probably benign	Het
Dsg4	G	T	18: 20,589,965 (GRCm39)	V372L	possibly damaging	Het
Dyrk2	T	C	10: 118,704,191 (GRCm39)	D21G	probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Epb41l4a	A	T	18: 33,935,560 (GRCm39)		probably null	Het
F10	G	T	8: 13,089,621 (GRCm39)	V67F	possibly damaging	Het
Fat3	A	G	9: 15,942,469 (GRCm39)	I1301T	probably damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Flt4	C	A	11: 49,517,271 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,990,312 (GRCm39)	T1128I	unknown	Het
Fos	T	C	12: 85,522,936 (GRCm39)	S283P	probably benign	Het
Fryl	T	C	5: 73,222,881 (GRCm39)	Y1900C	possibly damaging	Het
Fsip2	C	A	2: 82,817,373 (GRCm39)	Q4369K	probably benign	Het
Gad2	A	T	2: 22,563,982 (GRCm39)	H395L	probably damaging	Het
Grm2	T	A	9: 106,531,130 (GRCm39)	I120F	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,227,751 (GRCm39)	I1974N	probably damaging	Het
Il23r	T	C	6: 67,450,834 (GRCm39)	N215S	probably damaging	Het
Jph1	T	A	1: 17,161,928 (GRCm39)	M245L	possibly damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lsg1	A	G	16: 30,384,267 (GRCm39)	I521T	probably damaging	Het
Ltc4s	C	T	11: 50,127,908 (GRCm39)	G83R	probably damaging	Het
Map2	A	G	1: 66,449,796 (GRCm39)	E173G	probably damaging	Het
Med29	T	A	7: 28,086,352 (GRCm39)	D152V	possibly damaging	Het
Megf8	A	G	7: 25,062,940 (GRCm39)	D2432G	probably damaging	Het
Mrpl38	G	A	11: 116,025,978 (GRCm39)		probably benign	Het
Myh7	A	G	14: 55,225,778 (GRCm39)	I521T	possibly damaging	Het
Mylk	G	T	16: 34,742,805 (GRCm39)	V1106L	probably benign	Het
Myo15b	A	T	11: 115,752,761 (GRCm39)	D753V	possibly damaging	Het
Myo1g	T	C	11: 6,466,785 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,613,247 (GRCm39)		probably null	Het
Naip5	A	G	13: 100,359,922 (GRCm39)	V438A	possibly damaging	Het
Nav3	A	G	10: 109,600,796 (GRCm39)	V1277A	probably benign	Het
Nek10	T	A	14: 14,842,841 (GRCm38)	V182E	possibly damaging	Het
Ngly1	T	C	14: 16,281,809 (GRCm38)	V355A	probably benign	Het
Nol6	T	C	4: 41,118,944 (GRCm39)	E683G	possibly damaging	Het
Obsl1	A	T	1: 75,480,085 (GRCm39)	V487E	probably damaging	Het
Oc90	T	A	15: 65,753,354 (GRCm39)	R322W	possibly damaging	Het
Or1q1	C	A	2: 36,887,515 (GRCm39)	A231D	probably benign	Het
Or4f60	A	G	2: 111,902,097 (GRCm39)	V277A	possibly damaging	Het
Or52e4	A	T	7: 104,705,483 (GRCm39)	H10L	possibly damaging	Het
Or8b4	A	G	9: 37,830,217 (GRCm39)	E93G	possibly damaging	Het
Osbp2	T	C	11: 3,662,160 (GRCm39)	H231R	probably damaging	Het
Pate6	A	T	9: 35,701,021 (GRCm39)	C22S	probably damaging	Het
Pdzph1	T	C	17: 59,281,541 (GRCm39)	H247R	probably damaging	Het
Pidd1	T	C	7: 141,022,162 (GRCm39)	N209S	probably damaging	Het
Pknox1	C	T	17: 31,822,286 (GRCm39)	A351V	probably damaging	Het
Plxnd1	C	A	6: 115,935,576 (GRCm39)	V1737F	probably damaging	Het
Prkdc	A	T	16: 15,519,976 (GRCm39)	K1138M	probably damaging	Het
Rad54l2	T	C	9: 106,631,224 (GRCm39)	D21G	possibly damaging	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Scgb2b6	T	C	7: 31,318,908 (GRCm39)		noncoding transcript	Het
Sdc1	A	G	12: 8,840,541 (GRCm39)	E106G	possibly damaging	Het
Slc10a5	T	G	3: 10,400,360 (GRCm39)	Q100P	probably damaging	Het
Slc10a5	C	A	3: 10,400,359 (GRCm39)	Q100H	probably damaging	Het
Slc5a9	A	T	4: 111,748,134 (GRCm39)	L226Q	possibly damaging	Het
Slfn1	T	C	11: 83,012,475 (GRCm39)	V197A	probably benign	Het
Spire1	T	C	18: 67,645,935 (GRCm39)	M244V	probably benign	Het
St3gal3	C	T	4: 117,817,232 (GRCm39)	V141I	probably benign	Het
St6galnac4	G	T	2: 32,477,172 (GRCm39)		probably benign	Het
Svep1	T	C	4: 58,097,323 (GRCm39)	K1407E	possibly damaging	Het
Tbc1d32	A	G	10: 56,100,745 (GRCm39)	C78R	probably damaging	Het
Tcstv5	T	C	13: 120,411,378 (GRCm39)	Y76C	probably benign	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmeff1	A	T	4: 48,636,869 (GRCm39)	Y189F	possibly damaging	Het
Tmem131l	C	T	3: 83,806,519 (GRCm39)	A1433T	probably benign	Het
Tnfrsf8	T	C	4: 145,029,692 (GRCm39)	Y36C	probably damaging	Het
Trp53i11	G	T	2: 93,030,245 (GRCm39)	R184L	probably damaging	Het
Tsnax	T	A	8: 125,755,533 (GRCm39)	S132T	probably benign	Het
Ttc28	T	C	5: 111,424,909 (GRCm39)	L1547P	probably damaging	Het
Ttc3	A	G	16: 94,240,100 (GRCm39)		probably null	Het
Tubal3	T	A	13: 3,983,514 (GRCm39)	D431E	probably damaging	Het
Ugt2b36	A	T	5: 87,240,301 (GRCm39)		probably null	Het
Vmn1r23	A	T	6: 57,903,190 (GRCm39)	I196K	probably benign	Het
Vmn1r55	A	C	7: 5,149,586 (GRCm39)	L279R	probably damaging	Het
Vmn1r55	G	T	7: 5,149,587 (GRCm39)	L279M	probably damaging	Het
Vmn2r89	G	A	14: 51,694,942 (GRCm39)	G474E	probably damaging	Het
Vps26b	T	C	9: 26,926,511 (GRCm39)	K163E	probably damaging	Het
Zfp142	A	G	1: 74,609,431 (GRCm39)	F1352L	probably damaging	Het
Zfp422	C	T	6: 116,603,844 (GRCm39)	E52K	possibly damaging	Het
Zfp423	T	A	8: 88,508,338 (GRCm39)		probably null	Het
Zfp493	T	C	13: 67,934,736 (GRCm39)	F230L	probably damaging	Het
Zfp760	T	C	17: 21,941,388 (GRCm39)	C188R	probably benign	Het
Zfyve28	G	T	5: 34,375,189 (GRCm39)	T275K	probably damaging	Het
Znhit3	T	C	11: 84,807,155 (GRCm39)	N5D	probably benign	Het

Other mutations in Trpv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Trpv1	APN	11	73,151,188 (GRCm39)	missense	probably damaging	0.99
IGL01348:Trpv1	APN	11	73,129,078 (GRCm39)	splice site	probably null
IGL01568:Trpv1	APN	11	73,129,269 (GRCm39)	missense	probably benign	0.01
IGL01638:Trpv1	APN	11	73,144,155 (GRCm39)	missense	probably damaging	0.98
IGL02092:Trpv1	APN	11	73,136,905 (GRCm39)	splice site	probably benign
IGL02167:Trpv1	APN	11	73,145,623 (GRCm39)	missense	probably damaging	1.00
IGL02649:Trpv1	APN	11	73,141,612 (GRCm39)	missense	probably damaging	1.00
IGL03396:Trpv1	APN	11	73,143,882 (GRCm39)	missense	probably benign	0.01
IGL03402:Trpv1	APN	11	73,130,463 (GRCm39)	missense	possibly damaging	0.73
R0112:Trpv1	UTSW	11	73,144,098 (GRCm39)	missense	probably damaging	1.00
R0433:Trpv1	UTSW	11	73,143,834 (GRCm39)	splice site	probably benign
R0482:Trpv1	UTSW	11	73,130,255 (GRCm39)	missense	probably damaging	1.00
R0494:Trpv1	UTSW	11	73,151,268 (GRCm39)	missense	probably benign
R1401:Trpv1	UTSW	11	73,130,952 (GRCm39)	splice site	probably null
R2032:Trpv1	UTSW	11	73,129,211 (GRCm39)	missense	probably benign
R2199:Trpv1	UTSW	11	73,131,077 (GRCm39)	missense	probably damaging	0.96
R2263:Trpv1	UTSW	11	73,132,508 (GRCm39)	missense	probably damaging	1.00
R2939:Trpv1	UTSW	11	73,145,675 (GRCm39)	missense	probably damaging	0.99
R2940:Trpv1	UTSW	11	73,145,675 (GRCm39)	missense	probably damaging	0.99
R3743:Trpv1	UTSW	11	73,145,128 (GRCm39)	missense	probably damaging	1.00
R3805:Trpv1	UTSW	11	73,143,879 (GRCm39)	missense	probably damaging	0.99
R4073:Trpv1	UTSW	11	73,141,606 (GRCm39)	missense	probably damaging	0.96
R4294:Trpv1	UTSW	11	73,131,290 (GRCm39)	missense	probably damaging	1.00
R4650:Trpv1	UTSW	11	73,129,089 (GRCm39)	missense	probably benign	0.04
R5114:Trpv1	UTSW	11	73,132,574 (GRCm39)	missense	probably damaging	1.00
R5153:Trpv1	UTSW	11	73,129,342 (GRCm39)	missense	probably benign	0.32
R5319:Trpv1	UTSW	11	73,130,415 (GRCm39)	missense	probably damaging	0.99
R5516:Trpv1	UTSW	11	73,136,809 (GRCm39)	missense	probably benign	0.44
R5845:Trpv1	UTSW	11	73,131,407 (GRCm39)	missense	probably damaging	1.00
R6134:Trpv1	UTSW	11	73,135,143 (GRCm39)	missense	probably benign	0.01
R6232:Trpv1	UTSW	11	73,141,636 (GRCm39)	missense	possibly damaging	0.88
R6383:Trpv1	UTSW	11	73,136,862 (GRCm39)	missense	probably damaging	1.00
R7200:Trpv1	UTSW	11	73,130,412 (GRCm39)	missense	probably damaging	1.00
R7319:Trpv1	UTSW	11	73,141,620 (GRCm39)	missense	probably benign	0.01
R7323:Trpv1	UTSW	11	73,151,163 (GRCm39)	missense	possibly damaging	0.82
R7361:Trpv1	UTSW	11	73,151,203 (GRCm39)	missense	probably damaging	0.99
R7373:Trpv1	UTSW	11	73,131,499 (GRCm39)	missense	probably damaging	1.00
R7444:Trpv1	UTSW	11	73,135,030 (GRCm39)	missense	possibly damaging	0.89
R7488:Trpv1	UTSW	11	73,129,355 (GRCm39)	missense	probably benign	0.00
R7513:Trpv1	UTSW	11	73,131,367 (GRCm39)	missense	probably damaging	1.00
R7762:Trpv1	UTSW	11	73,145,048 (GRCm39)	missense	probably benign	0.01
R7991:Trpv1	UTSW	11	73,132,583 (GRCm39)	missense	possibly damaging	0.93
R8213:Trpv1	UTSW	11	73,145,077 (GRCm39)	missense	probably damaging	1.00
R8261:Trpv1	UTSW	11	73,145,593 (GRCm39)	critical splice acceptor site	probably null
R8753:Trpv1	UTSW	11	73,135,082 (GRCm39)	missense	probably damaging	1.00
R9176:Trpv1	UTSW	11	73,130,481 (GRCm39)	missense	probably benign	0.37
R9183:Trpv1	UTSW	11	73,135,039 (GRCm39)	missense	possibly damaging	0.87
R9190:Trpv1	UTSW	11	73,145,148 (GRCm39)	critical splice donor site	probably null
R9222:Trpv1	UTSW	11	73,141,681 (GRCm39)	missense	possibly damaging	0.87
R9241:Trpv1	UTSW	11	73,151,182 (GRCm39)	missense	probably benign	0.01
R9508:Trpv1	UTSW	11	73,145,090 (GRCm39)	missense
R9727:Trpv1	UTSW	11	73,130,347 (GRCm39)	missense	probably damaging	1.00
X0067:Trpv1	UTSW	11	73,135,027 (GRCm39)	critical splice acceptor site	probably null
Z1176:Trpv1	UTSW	11	73,131,333 (GRCm39)	missense	probably damaging	1.00
Z1176:Trpv1	UTSW	11	73,131,014 (GRCm39)	missense	probably damaging	1.00
Z1177:Trpv1	UTSW	11	73,145,599 (GRCm39)	missense	probably damaging	1.00
Z1186:Trpv1	UTSW	11	73,145,117 (GRCm39)	missense	probably benign	0.12
Z1186:Trpv1	UTSW	11	73,131,427 (GRCm39)	missense	possibly damaging	0.90
Z1187:Trpv1	UTSW	11	73,145,117 (GRCm39)	missense	probably benign	0.12
Z1187:Trpv1	UTSW	11	73,131,427 (GRCm39)	missense	possibly damaging	0.90
Z1188:Trpv1	UTSW	11	73,145,117 (GRCm39)	missense	probably benign	0.12
Z1188:Trpv1	UTSW	11	73,131,427 (GRCm39)	missense	possibly damaging	0.90
Z1189:Trpv1	UTSW	11	73,145,117 (GRCm39)	missense	probably benign	0.12
Z1189:Trpv1	UTSW	11	73,131,427 (GRCm39)	missense	possibly damaging	0.90
Z1190:Trpv1	UTSW	11	73,145,117 (GRCm39)	missense	probably benign	0.12
Z1190:Trpv1	UTSW	11	73,131,427 (GRCm39)	missense	possibly damaging	0.90
Z1191:Trpv1	UTSW	11	73,145,117 (GRCm39)	missense	probably benign	0.12
Z1191:Trpv1	UTSW	11	73,131,427 (GRCm39)	missense	possibly damaging	0.90
Z1192:Trpv1	UTSW	11	73,145,117 (GRCm39)	missense	probably benign	0.12
Z1192:Trpv1	UTSW	11	73,131,427 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCTGGACATGGAGGTTTTCTTC -3'
(R):5'- TCTGTCACCTGCAAGCATG -3'

Sequencing Primer
(F):5'- CCTTCATGATGTCCGAGCTGAAAAC -3'
(R):5'- AAGCATGCACCTGTCTTCTTCAC -3'

Posted On

2015-10-21