Mutagenetix > Incidental Mutations

Incidental Mutation 'R0112:Trpv1'

20528

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

038398-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R0112 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

73234292-73261242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73253272 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 618 (M618K)

Ref Sequence

ENSEMBL: ENSMUSP00000006106 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000006106
AA Change: M618K

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

SMART Domains

Protein: ENSMUSP00000006106
Gene: ENSMUSG00000005952
AA Change: M618K

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: M678K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099585
Gene: ENSMUSG00000005952
AA Change: M678K

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: M310K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104110
Gene: ENSMUSG00000005952
AA Change: M310K

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

possibly damaging
Transcript: ENSMUST00000138853
AA Change: M370K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116400
Gene: ENSMUSG00000005952
AA Change: M370K

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

0.7671

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,803	Y179F	probably benign	Het
Abcd4	A	G	12: 84,612,899		probably benign	Het
Abhd12b	C	T	12: 70,181,017	T191M	probably benign	Het
Adcy5	A	G	16: 35,156,178	E27G	possibly damaging	Het
Adgb	G	A	10: 10,407,158		probably benign	Het
Afdn	T	C	17: 13,884,637	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,651,626	R351L	probably damaging	Het
Axin2	T	C	11: 108,939,397	S348P	possibly damaging	Het
BC030499	T	C	11: 78,291,681		probably benign	Het
Bfsp1	A	C	2: 143,827,643		probably null	Het
Brd1	A	G	15: 88,730,383	V103A	probably benign	Het
Ccdc13	C	A	9: 121,813,481	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,173,761	K577R	probably damaging	Het
Csmd2	G	T	4: 128,496,029	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,629,523	M484K	probably benign	Het
Defb3	T	A	8: 19,293,407	L12Q	probably null	Het
Defb7	G	T	8: 19,495,170		probably null	Het
Dhx35	T	A	2: 158,840,620	M491K	probably damaging	Het
Dnah17	T	C	11: 118,074,434	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,679	E853D	probably benign	Het
Dner	C	A	1: 84,583,053	A23S	probably benign	Het
Dock5	A	C	14: 67,819,641	S539A	probably benign	Het
Dsg2	T	A	18: 20,583,042	F317I	probably benign	Het
Enox1	A	T	14: 77,699,198	I539F	possibly damaging	Het
Eogt	G	A	6: 97,135,284		probably benign	Het
Fbxo22	A	G	9: 55,223,346	T300A	probably benign	Het
Fes	T	C	7: 80,384,005	D166G	probably damaging	Het
Fn1	A	G	1: 71,609,653	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,540,495		probably benign	Het
Foxh1	T	C	15: 76,669,010	H168R	probably benign	Het
Galnt14	T	G	17: 73,574,984		probably benign	Het
Gdf6	A	G	4: 9,844,482	D2G	probably damaging	Het
Gp6	C	A	7: 4,370,184	A247S	probably benign	Het
Gp6	G	C	7: 4,371,627	P232A	probably benign	Het
Grin2c	A	G	11: 115,251,134	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,670,448	T198A	possibly damaging	Het
Helz	T	C	11: 107,672,948		probably benign	Het
Htr1d	A	G	4: 136,443,000	E180G	probably benign	Het
Igsf10	A	G	3: 59,326,008	V1768A	probably benign	Het
Ints10	A	T	8: 68,827,302	T694S	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lipc	T	A	9: 70,820,427	Y131F	probably damaging	Het
Litaf	G	T	16: 10,966,511	T45K	probably damaging	Het
Lmo7	A	T	14: 101,887,193	R363*	probably null	Het
Lrrc37a	A	T	11: 103,500,913	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,358,276	A943T	probably damaging	Het
Mtor	A	G	4: 148,480,923	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,351,447	Y384*	probably null	Het
Nat2	C	T	8: 67,501,726	Q163*	probably null	Het
Nell2	A	G	15: 95,431,681		probably benign	Het
Nphp3	C	T	9: 104,037,348	H102Y	possibly damaging	Het
Olfr1383	A	T	11: 49,524,134	H137L	possibly damaging	Het
Olfr1442	C	T	19: 12,674,757	T184I	probably benign	Het
Olfr686	A	T	7: 105,203,659	M228K	probably benign	Het
Olr1	T	C	6: 129,488,906	S46G	possibly damaging	Het
Parg	C	A	14: 32,202,433	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,195,715		probably benign	Het
Ripk4	A	G	16: 97,743,561	C629R	probably benign	Het
Rnf145	A	G	11: 44,564,151	T620A	probably benign	Het
Samd9l	T	G	6: 3,376,031	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,327,951		probably benign	Het
Slc19a1	T	C	10: 77,042,165	I178T	probably benign	Het
Slco1b2	A	T	6: 141,671,111	Y390F	probably benign	Het
Speg	A	G	1: 75,385,032	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,264,837		probably benign	Het
Tmem131l	G	A	3: 83,940,587	Q324*	probably null	Het
Trf	A	G	9: 103,226,956		probably benign	Het
Trp53	T	G	11: 69,588,679	Y202D	probably damaging	Het
Trrap	C	A	5: 144,822,761	Y2250*	probably null	Het
Ttc3	A	G	16: 94,385,322		probably benign	Het
Ubtfl1	T	G	9: 18,409,787	S204A	probably benign	Het
Uck2	A	T	1: 167,227,771	Y203N	probably damaging	Het
Utrn	A	T	10: 12,686,465	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,894,184	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,471,635	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,843,125	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,243,604	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,136,891	S17C	probably damaging	Het
Zfp811	C	T	17: 32,797,764	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,814,863		probably benign	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
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
R8213:Trpv1	UTSW	11	73254251	missense	probably damaging	1.00
R8261:Trpv1	UTSW	11	73254767	critical splice acceptor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- CAGGCCAGGTAACTCTTACAACAGC -3'
(R):5'- ATGATGGACAACAGGGATGCCCAC -3'

Sequencing Primer
(F):5'- GGTAACTCTTACAACAGCCTGTATTC -3'
(R):5'- TCTACCAAGGGAGCTGATGATG -3'

Posted On

2013-04-11