Mutagenetix > Incidental Mutations

Incidental Mutation 'R0346:Trpv4'

34261

Institutional Source

Beutler Lab

Gene Symbol

Trpv4

Ensembl Gene

ENSMUSG00000014158

Gene Name

transient receptor potential cation channel, subfamily V, member 4

Synonyms

VROAC, 0610033B08Rik, Trp12, VR-OAC, VRL-2, OTRPC4

MMRRC Submission

038553-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114622152-114658421 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 114630529 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071968] [ENSMUST00000112217] [ENSMUST00000112219] [ENSMUST00000112222] [ENSMUST00000112225]

Predicted Effect

probably benign
Transcript: ENSMUST00000071968

SMART Domains

Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
low complexity region	130	144	N/A	INTRINSIC
Blast:ANK	190	225	2e-11	BLAST
ANK	237	266	2.54e-2	SMART
ANK	284	313	5.58e1	SMART
Blast:ANK	320	356	3e-12	BLAST
ANK	369	398	3.49e0	SMART
low complexity region	415	425	N/A	INTRINSIC
Blast:ANK	442	467	1e-6	BLAST
Pfam:Ion_trans	468	730	9.9e-13	PFAM
Blast:PHB	753	804	5e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112217

SMART Domains

Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
low complexity region	130	144	N/A	INTRINSIC
Blast:ANK	190	225	1e-11	BLAST
ANK	237	266	2.54e-2	SMART
ANK	284	313	5.58e1	SMART
Blast:ANK	320	356	2e-12	BLAST
ANK	369	397	1.02e3	SMART
transmembrane domain	409	431	N/A	INTRINSIC
Pfam:Ion_trans	455	658	3.3e-8	PFAM
Blast:PHB	693	744	4e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112219

SMART Domains

Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
low complexity region	130	144	N/A	INTRINSIC
Blast:ANK	190	225	2e-11	BLAST
ANK	237	266	4.86e1	SMART
Blast:ANK	273	309	2e-12	BLAST
ANK	322	350	1.02e3	SMART
transmembrane domain	362	384	N/A	INTRINSIC
Pfam:Ion_trans	408	611	3e-8	PFAM
Blast:PHB	646	697	4e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112222

SMART Domains

Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
low complexity region	130	144	N/A	INTRINSIC
Blast:ANK	190	225	2e-11	BLAST
ANK	237	266	4.86e1	SMART
Blast:ANK	273	309	2e-12	BLAST
ANK	322	351	3.49e0	SMART
low complexity region	368	378	N/A	INTRINSIC
Blast:ANK	395	420	1e-6	BLAST
Pfam:Ion_trans	468	671	3.4e-8	PFAM
Blast:PHB	706	757	5e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112225

SMART Domains

Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
low complexity region	130	144	N/A	INTRINSIC
Blast:ANK	190	225	2e-11	BLAST
ANK	237	266	2.54e-2	SMART
ANK	284	313	5.58e1	SMART
Blast:ANK	320	356	3e-12	BLAST
ANK	369	398	3.49e0	SMART
low complexity region	415	425	N/A	INTRINSIC
Blast:ANK	442	467	1e-6	BLAST
Pfam:Ion_trans	515	718	3.4e-8	PFAM
Blast:PHB	753	804	5e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141828

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,566,278	I4406L	probably damaging	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Add3	C	T	19: 53,216,956	R46*	probably null	Het
Alas1	A	T	9: 106,243,351	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,538,741	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,445,971	R365*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
AU021092	T	C	16: 5,216,854	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Caln1	C	A	5: 130,822,921	H184N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,938,952	V372A	probably damaging	Het
Ccng2	T	G	5: 93,270,894	I126S	probably damaging	Het
Cep85	A	T	4: 134,132,422	N643K	probably damaging	Het
Clvs2	G	C	10: 33,622,546	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,232,087		probably benign	Het
Cttn	A	T	7: 144,452,539		probably benign	Het
Dedd2	T	C	7: 25,211,269	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,503,925	D263G	probably damaging	Het
Dppa4	T	A	16: 48,289,324		probably benign	Het
Ear2	A	G	14: 44,102,906	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,188,108		probably benign	Het
Etl4	G	T	2: 20,759,652		probably null	Het
Fbxo15	T	A	18: 84,960,221		probably null	Het
Gm8765	T	C	13: 50,703,310	Y995H	probably benign	Het
Gm9970	A	G	5: 31,240,838		probably benign	Het
Hap1	A	G	11: 100,356,029	S17P	probably benign	Het
Hgd	C	T	16: 37,588,774		probably benign	Het
Inpp5f	T	A	7: 128,690,668	L16Q	probably damaging	Het
Islr2	G	A	9: 58,198,343	R545*	probably null	Het
Itgav	G	T	2: 83,792,609	C675F	probably damaging	Het
Kif13a	T	A	13: 46,814,219	I403L	possibly damaging	Het
Kif14	T	A	1: 136,468,160	I68N	probably damaging	Het
Kif26a	G	T	12: 112,179,348	K1764N	probably null	Het
Lrrd1	C	A	5: 3,850,215	F173L	probably benign	Het
Mroh4	G	C	15: 74,614,292		probably benign	Het
Mrvi1	T	C	7: 110,898,976	D404G	probably damaging	Het
Msh5	A	G	17: 35,029,888	V723A	probably benign	Het
Mybph	T	G	1: 134,197,754	I279S	probably damaging	Het
Myh4	A	T	11: 67,260,326	I1936L	probably benign	Het
Myo1h	A	T	5: 114,355,209	T704S	probably benign	Het
Nav2	C	A	7: 49,604,585	T2377K	probably benign	Het
Nipbl	T	G	15: 8,360,956	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 20,024,515	L559P	probably damaging	Het
Nup210l	T	A	3: 90,189,438	V1318E	probably damaging	Het
Olfr1427	A	T	19: 12,099,439	S67T	probably damaging	Het
Olfr18	A	G	9: 20,314,411	S170P	probably benign	Het
Olfr385	A	G	11: 73,589,457	Y94H	probably damaging	Het
Olfr765	C	A	10: 129,046,473	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,209,566	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,114,253	L966P	probably benign	Het
Prss35	A	G	9: 86,755,351	K58R	probably benign	Het
Ptafr	T	A	4: 132,580,079	L260*	probably null	Het
Pum1	A	T	4: 130,779,805	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf145	A	G	11: 44,555,164	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,208,491	K218N	possibly damaging	Het
Rps6	T	C	4: 86,855,981	T128A	probably benign	Het
Ryr1	G	T	7: 29,067,588		probably benign	Het
Scel	A	T	14: 103,529,984	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,858,673	D57E	probably benign	Het
Slc35d1	A	C	4: 103,190,847	L240R	probably damaging	Het
Smcr8	A	G	11: 60,779,750	I575V	probably benign	Het
Syk	G	A	13: 52,640,659	M476I	probably damaging	Het
Tbcel	A	T	9: 42,437,243		probably benign	Het
Tob2	C	A	15: 81,858,223	G65W	probably damaging	Het
Trim16	A	G	11: 62,840,694	N464D	probably benign	Het
Trim36	T	C	18: 46,199,709		probably benign	Het
Tsga10	T	A	1: 37,840,519	T64S	possibly damaging	Het
Ttc26	T	C	6: 38,409,435	C364R	probably damaging	Het
Vars2	A	T	17: 35,664,864		probably benign	Het
Vmn1r72	C	A	7: 11,669,694	V276L	probably benign	Het
Vps13a	T	A	19: 16,677,969	K1898N	probably benign	Het
Vps18	A	G	2: 119,297,164	M823V	probably damaging	Het
Washc2	T	C	6: 116,220,523		probably benign	Het
Zfp763	A	T	17: 33,019,747	H141Q	probably benign	Het

Other mutations in Trpv4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Trpv4	APN	5	114628625	missense	probably damaging	1.00
IGL01804:Trpv4	APN	5	114644786	missense	possibly damaging	0.77
IGL01955:Trpv4	APN	5	114622682	nonsense	probably null
IGL02115:Trpv4	APN	5	114625029	missense	probably damaging	1.00
IGL02375:Trpv4	APN	5	114636357	missense	probably benign	0.10
IGL02870:Trpv4	APN	5	114625056	missense	probably damaging	1.00
PIT4472001:Trpv4	UTSW	5	114626923	missense	probably damaging	0.99
R0045:Trpv4	UTSW	5	114636457	missense	probably benign
R0045:Trpv4	UTSW	5	114636457	missense	probably benign
R0217:Trpv4	UTSW	5	114634661	missense	possibly damaging	0.68
R0358:Trpv4	UTSW	5	114630432	missense	probably damaging	1.00
R1745:Trpv4	UTSW	5	114633154	missense	probably damaging	1.00
R1880:Trpv4	UTSW	5	114623626	missense	probably benign	0.00
R1881:Trpv4	UTSW	5	114623626	missense	probably benign	0.00
R2018:Trpv4	UTSW	5	114634605	missense	probably damaging	1.00
R2093:Trpv4	UTSW	5	114635504	missense	probably damaging	1.00
R2172:Trpv4	UTSW	5	114644710	missense	probably damaging	1.00
R2679:Trpv4	UTSW	5	114635552	missense	probably damaging	1.00
R3699:Trpv4	UTSW	5	114634800	missense	probably damaging	1.00
R4731:Trpv4	UTSW	5	114622753	missense	possibly damaging	0.81
R4732:Trpv4	UTSW	5	114622753	missense	possibly damaging	0.81
R4733:Trpv4	UTSW	5	114622753	missense	possibly damaging	0.81
R4822:Trpv4	UTSW	5	114630022	missense	possibly damaging	0.66
R4985:Trpv4	UTSW	5	114622732	missense	probably benign	0.00
R4987:Trpv4	UTSW	5	114622732	missense	probably benign	0.00
R5026:Trpv4	UTSW	5	114622654	makesense	probably null
R5105:Trpv4	UTSW	5	114626920	missense	probably damaging	1.00
R5236:Trpv4	UTSW	5	114622795	missense	possibly damaging	0.81
R5330:Trpv4	UTSW	5	114635543	missense	probably damaging	1.00
R5331:Trpv4	UTSW	5	114635543	missense	probably damaging	1.00
R5396:Trpv4	UTSW	5	114623614	missense	possibly damaging	0.77
R5423:Trpv4	UTSW	5	114636445	missense	probably benign	0.25
R5667:Trpv4	UTSW	5	114634556	missense	probably damaging	1.00
R5896:Trpv4	UTSW	5	114622647	utr 3 prime	probably benign
R6239:Trpv4	UTSW	5	114644826	missense	probably benign
R6762:Trpv4	UTSW	5	114625110	missense	probably benign	0.07
R6952:Trpv4	UTSW	5	114633202	missense	probably damaging	1.00
R7191:Trpv4	UTSW	5	114633140	missense	probably benign
R7343:Trpv4	UTSW	5	114636459	missense	probably benign	0.42
R7951:Trpv4	UTSW	5	114622810	missense	probably benign	0.33
R8551:Trpv4	UTSW	5	114630839	missense	possibly damaging	0.96
Z1177:Trpv4	UTSW	5	114634612	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGATCTGGAACAGAAGAGACGGTG -3'
(R):5'- AACGTGGTCTCCTATCTGTGTGCC -3'

Sequencing Primer
(F):5'- ggggagaggagggaggg -3'
(R):5'- TACTATCAGCCACTGGAGGG -3'

Posted On

2013-05-09