Mutagenetix > Incidental Mutation

Incidental Mutation 'R5330:Trpv4'

423132

Institutional Source

Beutler Lab

Gene Symbol

Trpv4

Ensembl Gene

ENSMUSG00000014158

Gene Name

transient receptor potential cation channel, subfamily V, member 4

Synonyms

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

MMRRC Submission

042912-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R5330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114760213-114796482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114773604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 253 (Y253H)

Ref Sequence

ENSEMBL: ENSMUSP00000107844 (fasta)

Gene Model

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

AlphaFold

Q9EPK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000071968
AA Change: Y253H

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

SMART Domains

Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: Y253H

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 damaging
Transcript: ENSMUST00000112217
AA Change: Y253H

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

SMART Domains

Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: Y253H

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: Y253H

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

SMART Domains

Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: Y253H

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

0.2361

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (95/96)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Abca16	T	A	7: 120,102,600 (GRCm39)	I833N	probably benign	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Aktip	A	T	8: 91,853,352 (GRCm39)	F122I	probably damaging	Het
Ankrd27	T	A	7: 35,315,351 (GRCm39)	L500*	probably null	Het
Blm	T	C	7: 80,108,684 (GRCm39)	E55G	possibly damaging	Het
Carmil1	A	T	13: 24,209,929 (GRCm39)		probably null	Het
Cdca7	T	C	2: 72,315,042 (GRCm39)	C311R	probably damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctnnd2	C	T	15: 30,332,261 (GRCm39)	T48I	probably damaging	Het
Cyp2b10	T	A	7: 25,613,414 (GRCm39)	Y203*	probably null	Het
Dchs1	A	T	7: 105,403,809 (GRCm39)	V2911E	probably damaging	Het
Dnah12	G	A	14: 26,495,787 (GRCm39)	E1472K	probably damaging	Het
Dnah3	T	C	7: 119,542,871 (GRCm39)	T3514A	probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm10313	T	A	8: 46,708,490 (GRCm39)		noncoding transcript	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377 (GRCm39)	T211A	probably benign	Het
Herc4	G	T	10: 63,143,578 (GRCm39)	E703*	probably null	Het
Hivep2	A	G	10: 14,007,164 (GRCm39)	K1254R	probably damaging	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Lct	A	T	1: 128,226,266 (GRCm39)	D1374E	probably benign	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mark4	G	A	7: 19,170,908 (GRCm39)	P321S	probably damaging	Het
Med18	A	G	4: 132,190,377 (GRCm39)		probably benign	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nob1	T	G	8: 108,142,881 (GRCm39)	T267P	probably damaging	Het
Nos3	A	G	5: 24,574,902 (GRCm39)	E307G	probably damaging	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Pcdh17	T	A	14: 84,770,486 (GRCm39)	V988E	probably damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Phlpp2	A	G	8: 110,660,667 (GRCm39)	D774G	probably damaging	Het
Pibf1	T	C	14: 99,378,082 (GRCm39)	Y403H	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Ptprk	A	T	10: 28,463,076 (GRCm39)	D189V	probably damaging	Het
Relb	C	T	7: 19,340,630 (GRCm39)	G509S	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Sel1l3	A	T	5: 53,343,351 (GRCm39)	Y314N	possibly damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Snta1	C	A	2: 154,219,940 (GRCm39)	E403*	probably null	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Spata31d1a	A	T	13: 59,848,217 (GRCm39)	C1304S	possibly damaging	Het
Srebf2	T	A	15: 82,080,409 (GRCm39)	I834N	possibly damaging	Het
Steap1	G	T	5: 5,790,422 (GRCm39)	H175Q	probably damaging	Het
Sult2a8	T	C	7: 14,147,679 (GRCm39)	E204G	possibly damaging	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tecta	A	C	9: 42,249,152 (GRCm39)	D1903E	probably damaging	Het
Tmem222	A	C	4: 133,004,935 (GRCm39)	M34R	possibly damaging	Het
Tnik	A	G	3: 28,596,167 (GRCm39)	T187A	probably damaging	Het
Trpv5	G	A	6: 41,637,266 (GRCm39)	R358C	probably benign	Het
Ttll13	T	C	7: 79,910,257 (GRCm39)	V800A	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Vmn2r58	G	A	7: 41,513,384 (GRCm39)	Q420*	probably null	Het
Zranb3	G	A	1: 127,887,457 (GRCm39)	P990L	probably damaging	Het
Zswim9	T	A	7: 12,993,912 (GRCm39)	D748V	probably damaging	Het

Other mutations in Trpv4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Trpv4	APN	5	114,766,686 (GRCm39)	missense	probably damaging	1.00
IGL01804:Trpv4	APN	5	114,782,847 (GRCm39)	missense	possibly damaging	0.77
IGL01955:Trpv4	APN	5	114,760,743 (GRCm39)	nonsense	probably null
IGL02115:Trpv4	APN	5	114,763,090 (GRCm39)	missense	probably damaging	1.00
IGL02375:Trpv4	APN	5	114,774,418 (GRCm39)	missense	probably benign	0.10
IGL02870:Trpv4	APN	5	114,763,117 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Trpv4	UTSW	5	114,764,984 (GRCm39)	missense	probably damaging	0.99
R0045:Trpv4	UTSW	5	114,774,518 (GRCm39)	missense	probably benign
R0045:Trpv4	UTSW	5	114,774,518 (GRCm39)	missense	probably benign
R0217:Trpv4	UTSW	5	114,772,722 (GRCm39)	missense	possibly damaging	0.68
R0346:Trpv4	UTSW	5	114,768,590 (GRCm39)	splice site	probably benign
R0358:Trpv4	UTSW	5	114,768,493 (GRCm39)	missense	probably damaging	1.00
R1745:Trpv4	UTSW	5	114,771,215 (GRCm39)	missense	probably damaging	1.00
R1880:Trpv4	UTSW	5	114,761,687 (GRCm39)	missense	probably benign	0.00
R1881:Trpv4	UTSW	5	114,761,687 (GRCm39)	missense	probably benign	0.00
R2018:Trpv4	UTSW	5	114,772,666 (GRCm39)	missense	probably damaging	1.00
R2093:Trpv4	UTSW	5	114,773,565 (GRCm39)	missense	probably damaging	1.00
R2172:Trpv4	UTSW	5	114,782,771 (GRCm39)	missense	probably damaging	1.00
R2679:Trpv4	UTSW	5	114,773,613 (GRCm39)	missense	probably damaging	1.00
R3699:Trpv4	UTSW	5	114,772,861 (GRCm39)	missense	probably damaging	1.00
R4731:Trpv4	UTSW	5	114,760,814 (GRCm39)	missense	possibly damaging	0.81
R4732:Trpv4	UTSW	5	114,760,814 (GRCm39)	missense	possibly damaging	0.81
R4733:Trpv4	UTSW	5	114,760,814 (GRCm39)	missense	possibly damaging	0.81
R4822:Trpv4	UTSW	5	114,768,083 (GRCm39)	missense	possibly damaging	0.66
R4985:Trpv4	UTSW	5	114,760,793 (GRCm39)	missense	probably benign	0.00
R4987:Trpv4	UTSW	5	114,760,793 (GRCm39)	missense	probably benign	0.00
R5026:Trpv4	UTSW	5	114,760,715 (GRCm39)	makesense	probably null
R5105:Trpv4	UTSW	5	114,764,981 (GRCm39)	missense	probably damaging	1.00
R5236:Trpv4	UTSW	5	114,760,856 (GRCm39)	missense	possibly damaging	0.81
R5331:Trpv4	UTSW	5	114,773,604 (GRCm39)	missense	probably damaging	1.00
R5396:Trpv4	UTSW	5	114,761,675 (GRCm39)	missense	possibly damaging	0.77
R5423:Trpv4	UTSW	5	114,774,506 (GRCm39)	missense	probably benign	0.25
R5667:Trpv4	UTSW	5	114,772,617 (GRCm39)	missense	probably damaging	1.00
R5896:Trpv4	UTSW	5	114,760,708 (GRCm39)	utr 3 prime	probably benign
R6239:Trpv4	UTSW	5	114,782,887 (GRCm39)	missense	probably benign
R6762:Trpv4	UTSW	5	114,763,171 (GRCm39)	missense	probably benign	0.07
R6952:Trpv4	UTSW	5	114,771,263 (GRCm39)	missense	probably damaging	1.00
R7191:Trpv4	UTSW	5	114,771,201 (GRCm39)	missense	probably benign
R7343:Trpv4	UTSW	5	114,774,520 (GRCm39)	missense	probably benign	0.42
R7951:Trpv4	UTSW	5	114,760,871 (GRCm39)	missense	probably benign	0.33
R8551:Trpv4	UTSW	5	114,768,900 (GRCm39)	missense	possibly damaging	0.96
R8803:Trpv4	UTSW	5	114,772,816 (GRCm39)	missense	probably benign	0.08
R8871:Trpv4	UTSW	5	114,768,511 (GRCm39)	missense	probably benign	0.00
R9228:Trpv4	UTSW	5	114,772,622 (GRCm39)	missense	probably benign	0.02
R9250:Trpv4	UTSW	5	114,764,941 (GRCm39)	missense	probably damaging	1.00
R9291:Trpv4	UTSW	5	114,768,068 (GRCm39)	missense	probably benign
R9304:Trpv4	UTSW	5	114,782,702 (GRCm39)	nonsense	probably null
R9383:Trpv4	UTSW	5	114,796,474 (GRCm39)	start gained	probably benign
R9654:Trpv4	UTSW	5	114,764,887 (GRCm39)	missense	probably benign	0.26
R9697:Trpv4	UTSW	5	114,771,285 (GRCm39)	missense	possibly damaging	0.94
R9712:Trpv4	UTSW	5	114,771,211 (GRCm39)	nonsense	probably null
Z1177:Trpv4	UTSW	5	114,772,673 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAACTTTCTCCAGAGCTCTG -3'
(R):5'- TGTCATGCACCCCAAATCTC -3'

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

Posted On

2016-08-04