Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Trpv4'

700001

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

Accession Numbers

Essential gene?

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

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114760213-114796482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114772622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 369 (D369E)

Ref Sequence

ENSEMBL: ENSMUSP00000071859 (fasta)

Gene Model

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

AlphaFold

Q9EPK8

Predicted Effect

probably benign
Transcript: ENSMUST00000071968
AA Change: D369E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: D369E

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
AA Change: D369E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: D369E

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

possibly damaging
Transcript: ENSMUST00000112219
AA Change: D322E

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158
AA Change: D322E

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
AA Change: D322E

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: D322E

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
AA Change: D369E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: D369E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,718,274 (GRCm39)	A56T	probably benign	Het
4930438A08Rik	A	T	11: 58,178,296 (GRCm39)	I119F		Het
Abca12	A	T	1: 71,332,599 (GRCm39)	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,138,809 (GRCm39)	Y157*	probably null	Het
Adcy7	G	A	8: 89,044,675 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,026,798 (GRCm39)	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,275,279 (GRCm39)	V493A	probably benign	Het
Ahctf1	T	C	1: 179,611,685 (GRCm39)	T562A	probably benign	Het
Amotl1	T	A	9: 14,504,320 (GRCm39)	N296I	possibly damaging	Het
Ankar	A	G	1: 72,713,210 (GRCm39)	V693A	probably benign	Het
Ankrd16	T	C	2: 11,786,318 (GRCm39)	V189A	probably benign	Het
Bmp1	A	G	14: 70,757,338 (GRCm39)	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,248,476 (GRCm39)	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,927 (GRCm39)	E127D	probably benign	Het
Cd109	A	T	9: 78,577,042 (GRCm39)	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,842,124 (GRCm39)	I2N	unknown	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chuk	A	T	19: 44,095,789 (GRCm39)	W15R	probably damaging	Het
Cpvl	C	T	6: 53,951,779 (GRCm39)	M1I	probably null	Het
Cyfip1	A	G	7: 55,549,758 (GRCm39)	M642V	probably damaging	Het
Dhh	T	A	15: 98,795,757 (GRCm39)	R133*	probably null	Het
Dnmt3b	G	A	2: 153,507,980 (GRCm39)	V212M	probably benign	Het
Dync2li1	A	G	17: 84,957,137 (GRCm39)	S301G	probably benign	Het
Epas1	A	C	17: 87,133,990 (GRCm39)	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,352,824 (GRCm39)	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,431,320 (GRCm39)	F18L	unknown	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gpld1	A	T	13: 25,136,900 (GRCm39)	S73C	probably damaging	Het
Hddc3	A	G	7: 79,993,328 (GRCm39)	I52V	probably benign	Het
Hmgcll1	A	T	9: 75,991,732 (GRCm39)	T252S	probably damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Jph2	A	G	2: 163,180,606 (GRCm39)	V675A	probably benign	Het
Kifap3	T	C	1: 163,689,666 (GRCm39)	F550S	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kplce	C	T	3: 92,775,951 (GRCm39)	G244D	probably benign	Het
L1td1	T	C	4: 98,625,932 (GRCm39)	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,212,155 (GRCm39)	M255I	unknown	Het
Layn	T	A	9: 50,968,837 (GRCm39)	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,072,418 (GRCm39)	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,382,807 (GRCm39)	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,352,900 (GRCm39)	L243S	possibly damaging	Het
Midn	T	A	10: 79,990,275 (GRCm39)	H315Q	probably damaging	Het
Mtrex	A	T	13: 113,050,888 (GRCm39)		probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myh2	T	C	11: 67,077,522 (GRCm39)	S886P	probably benign	Het
Nemf	T	C	12: 69,388,093 (GRCm39)	I396V	probably damaging	Het
Nemp1	T	G	10: 127,525,227 (GRCm39)	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,428,227 (GRCm39)	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,531,631 (GRCm39)	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422 (GRCm39)	I989N	probably benign	Het
Or12e7	T	A	2: 87,287,907 (GRCm39)	C133S	possibly damaging	Het
Palld	A	T	8: 62,173,571 (GRCm39)	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,144,512 (GRCm39)	D201G	probably damaging	Het
Per2	A	G	1: 91,366,081 (GRCm39)	C339R	probably damaging	Het
Phactr4	T	C	4: 132,097,874 (GRCm39)	T455A	possibly damaging	Het
Phc2	T	C	4: 128,617,062 (GRCm39)	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,640,063 (GRCm39)	K13*	probably null	Het
Ptafr	T	C	4: 132,306,613 (GRCm39)	M1T	probably null	Het
Rbms1	G	A	2: 60,610,087 (GRCm39)	P208S	probably benign	Het
Scg3	T	A	9: 75,558,955 (GRCm39)	I419F	probably damaging	Het
Scn1a	T	C	2: 66,130,099 (GRCm39)	T219A	probably benign	Het
Sec14l4	A	G	11: 3,989,977 (GRCm39)	D92G	probably damaging	Het
Senp3	G	T	11: 69,569,085 (GRCm39)	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,172,857 (GRCm39)	D142G	probably damaging	Het
Skint2	T	C	4: 112,483,039 (GRCm39)	M148T	possibly damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Snai2	T	A	16: 14,524,792 (GRCm39)	D99E	probably damaging	Het
Spg7	A	G	8: 123,807,408 (GRCm39)	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,360,337 (GRCm39)	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,116,612 (GRCm39)	F637L	probably benign	Het
Tcam1	A	G	11: 106,177,292 (GRCm39)	N428S	probably damaging	Het
Tctn3	C	T	19: 40,596,692 (GRCm39)	R276K	probably benign	Het
Timm29	G	A	9: 21,504,656 (GRCm39)	R108H	probably damaging	Het
Tlr9	A	T	9: 106,102,752 (GRCm39)	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tns3	T	C	11: 8,400,094 (GRCm39)	K1169E	probably damaging	Het
Trim72	A	C	7: 127,608,315 (GRCm39)	D271A	possibly damaging	Het
Ttn	A	G	2: 76,583,192 (GRCm39)	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,223,652 (GRCm39)	P207S	probably damaging	Het
Unc5d	A	T	8: 29,165,448 (GRCm39)	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,086,076 (GRCm39)	P4L	unknown	Het
Vmn1r201	A	G	13: 22,659,670 (GRCm39)	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,064,697 (GRCm39)	I63T	probably benign	Het
Zfyve28	T	C	5: 34,374,788 (GRCm39)	T409A	probably benign	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
R5330:Trpv4	UTSW	5	114,773,604 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCGGGAGAATGACATTATGTG -3'
(R):5'- CGCACATCGTCAACTACCTG -3'

Sequencing Primer
(F):5'- GGTTTTAGATAAAGCAGAGCTATAGC -3'
(R):5'- CCTCACAAGAAAGCTGACATGAGG -3'

Posted On

2022-02-07