Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Trpv4'

250742

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

040432-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R2679 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

114622152-114658421 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114635552 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 250 (C250S)

Ref Sequence

ENSEMBL: ENSMUSP00000107844 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071968
AA Change: C250S

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

SMART Domains

Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: C250S

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

possibly damaging
Transcript: ENSMUST00000112217
AA Change: C250S

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: C250S

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 damaging
Transcript: ENSMUST00000112225
AA Change: C250S

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

SMART Domains

Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: C250S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212469

Meta Mutation Damage Score

0.2171

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	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
R0346:Trpv4	UTSW	5	114630529	splice site	probably benign
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
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'- TGTGAACTTTCTCCAGAGCTC -3'
(R):5'- TGTCATGCACCCCAAATCTC -3'

Sequencing Primer
(F):5'- CAGGTCTAAGTATGTGGGAGTCACC -3'
(R):5'- TCTCACATCAACCCTGCGC -3'

Posted On

2014-12-04