Mutagenetix > Incidental Mutation

Incidental Mutation 'R7343:Trpv4'

570001

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

045433-MU

Accession Numbers

Essential gene?

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

Stock #

R7343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114760213-114796482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 114774520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 188 (P188R)

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: P188R

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: P188R

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: P188R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: P188R

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
AA Change: P188R

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158
AA Change: P188R

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: P188R

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

SMART Domains

Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: P188R

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: P188R

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: P188R

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	C	6: 83,139,353 (GRCm39)	N426T	probably benign	Het
6430548M08Rik	A	G	8: 120,872,327 (GRCm39)	D85G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abcg3	A	T	5: 105,116,100 (GRCm39)	F245I	probably benign	Het
Abhd17a	G	T	10: 80,419,991 (GRCm39)	F231L	possibly damaging	Het
Adgra1	A	T	7: 139,456,058 (GRCm39)	D562V	probably damaging	Het
Akap7	C	A	10: 25,165,567 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,096,364 (GRCm39)	D2413G	probably damaging	Het
Akr1c18	A	T	13: 4,187,236 (GRCm39)	C193S	probably damaging	Het
Aloxe3	A	T	11: 69,023,569 (GRCm39)	M231L	probably benign	Het
Apoh	A	G	11: 108,286,674 (GRCm39)	T33A	probably benign	Het
Atp13a5	T	C	16: 29,140,567 (GRCm39)	N330D	probably benign	Het
C1ql3	T	G	2: 13,015,589 (GRCm39)	M24L	probably benign	Het
Cacna1d	T	C	14: 29,845,014 (GRCm39)	N712S	probably benign	Het
Cbs	T	C	17: 31,838,113 (GRCm39)	M379V	possibly damaging	Het
Ccdc167	T	C	17: 29,924,517 (GRCm39)	D28G	probably damaging	Het
Ccp110	A	T	7: 118,323,798 (GRCm39)	Q679L	probably benign	Het
Ccz1	A	T	5: 143,935,000 (GRCm39)	L310H	probably damaging	Het
Cerkl	A	T	2: 79,259,104 (GRCm39)	D44E	probably damaging	Het
Cfap221	T	A	1: 119,922,828 (GRCm39)	E38V	possibly damaging	Het
Chia1	T	A	3: 106,039,331 (GRCm39)	*474R	probably null	Het
Clint1	C	T	11: 45,774,590 (GRCm39)	T32M	probably damaging	Het
Clk3	A	T	9: 57,668,239 (GRCm39)	F227L	probably damaging	Het
Col5a3	C	T	9: 20,705,242 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,426,873 (GRCm39)	I501T	probably benign	Het
Dag1	G	A	9: 108,086,292 (GRCm39)	A283V	possibly damaging	Het
Ddr2	A	T	1: 169,809,647 (GRCm39)	W777R	probably damaging	Het
Deaf1	A	T	7: 140,902,871 (GRCm39)	V151D	probably damaging	Het
Dido1	A	T	2: 180,316,914 (GRCm39)	V631E	possibly damaging	Het
Dpp4	G	A	2: 62,189,245 (GRCm39)	Q429*	probably null	Het
Dscaml1	A	G	9: 45,664,214 (GRCm39)	R2030G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E2f8	T	A	7: 48,517,713 (GRCm39)	M697L	probably damaging	Het
Eef2kmt	C	A	16: 5,065,299 (GRCm39)	G303W	probably damaging	Het
Eif2ak1	A	G	5: 143,814,489 (GRCm39)	Y182C	probably damaging	Het
Epha6	G	T	16: 59,780,793 (GRCm39)	A636E	probably damaging	Het
Fancd2	G	A	6: 113,513,900 (GRCm39)	V95I	probably benign	Het
Fbln5	A	T	12: 101,727,075 (GRCm39)	C292S	probably damaging	Het
Fgfr4	A	G	13: 55,306,968 (GRCm39)	Y219C	probably damaging	Het
Frem1	T	G	4: 82,912,359 (GRCm39)	K670T	probably damaging	Het
Fsip2	A	T	2: 82,809,711 (GRCm39)	H2010L	probably benign	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gbe1	A	G	16: 70,157,903 (GRCm39)	T101A	probably benign	Het
Gm5114	T	A	7: 39,058,180 (GRCm39)	I480F	probably damaging	Het
Gm7145	A	T	1: 117,913,842 (GRCm39)	R241S	probably damaging	Het
Gnal	G	A	18: 67,268,596 (GRCm39)	V161I	probably benign	Het
Gtpbp1	T	C	15: 79,575,243 (GRCm39)	C46R	probably benign	Het
Gucy2c	A	T	6: 136,679,746 (GRCm39)	L971Q	probably damaging	Het
Hsp90b1	T	C	10: 86,528,047 (GRCm39)	E740G	probably damaging	Het
Lingo2	G	A	4: 35,709,450 (GRCm39)	L177F	possibly damaging	Het
Mfsd6l	A	G	11: 68,447,874 (GRCm39)	T242A	possibly damaging	Het
Mmadhc	C	T	2: 50,181,457 (GRCm39)	R71K	probably damaging	Het
Mrm3	G	T	11: 76,140,726 (GRCm39)	V245L	probably damaging	Het
Nav3	T	A	10: 109,739,619 (GRCm39)	I117F	probably damaging	Het
Noc3l	A	T	19: 38,783,468 (GRCm39)	V636D	probably damaging	Het
Nwd1	A	T	8: 73,438,410 (GRCm39)	Q1486L	probably damaging	Het
Or10aa1	A	T	1: 173,870,419 (GRCm39)	K301M	probably damaging	Het
Or2y10	A	G	11: 49,455,329 (GRCm39)	T194A	possibly damaging	Het
Or3a10	G	T	11: 73,935,726 (GRCm39)	R125S	possibly damaging	Het
Or4c11c	T	G	2: 88,662,190 (GRCm39)	I243R	probably damaging	Het
Or6c5b	C	G	10: 129,245,852 (GRCm39)	L206V	possibly damaging	Het
Pax9	T	A	12: 56,742,647 (GRCm39)	M1K	probably null	Het
Pcdha1	T	C	18: 37,063,702 (GRCm39)	V122A	probably damaging	Het
Pgpep1l	A	T	7: 67,887,469 (GRCm39)	S44T	probably damaging	Het
Pla2g3	C	T	11: 3,443,022 (GRCm39)	L452F	possibly damaging	Het
Plbd2	G	A	5: 120,631,214 (GRCm39)	R188W	probably damaging	Het
Ppp1r42	G	A	1: 10,039,082 (GRCm39)	P346L	probably benign	Het
Prdm8	T	A	5: 98,332,375 (GRCm39)	V92D	probably damaging	Het
Ripor2	C	A	13: 24,885,427 (GRCm39)	S554*	probably null	Het
Rps19	T	C	7: 24,584,571 (GRCm39)	V4A	probably damaging	Het
Rrm2b	T	A	15: 37,944,817 (GRCm39)	I159F	probably benign	Het
Rusc1	C	A	3: 88,999,057 (GRCm39)	G242W	probably damaging	Het
Sarm1	A	G	11: 78,388,083 (GRCm39)	S68P	possibly damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Slc22a4	A	G	11: 53,877,364 (GRCm39)	F509S	possibly damaging	Het
Slc39a12	G	A	2: 14,456,811 (GRCm39)	A600T	probably damaging	Het
Spta1	A	T	1: 174,050,915 (GRCm39)	H1798L	probably damaging	Het
Sulf2	T	G	2: 165,919,536 (GRCm39)	D804A	possibly damaging	Het
Suz12	A	T	11: 79,910,529 (GRCm39)	E316D	probably benign	Het
Tbrg4	A	G	11: 6,570,065 (GRCm39)	S270P	probably benign	Het
Tecta	T	C	9: 42,248,628 (GRCm39)	T1925A	probably damaging	Het
Thrap3	A	T	4: 126,072,223 (GRCm39)	F390I	probably damaging	Het
Tpr	C	A	1: 150,269,245 (GRCm39)	A70E	unknown	Het
Txlna	A	C	4: 129,525,953 (GRCm39)	L298R	probably damaging	Het
Ubr4	T	C	4: 139,140,749 (GRCm39)	S1223P	probably benign	Het
Ucp1	A	T	8: 84,021,881 (GRCm39)	T238S	probably damaging	Het
Ush2a	A	G	1: 188,147,943 (GRCm39)	S957G	probably benign	Het
Usp34	A	G	11: 23,438,868 (GRCm39)	N3496D		Het
Vmn2r50	T	C	7: 9,784,277 (GRCm39)		probably null	Het
Wdr54	A	G	6: 83,131,921 (GRCm39)	V130A	probably benign	Het
Zfp692	A	T	11: 58,202,331 (GRCm39)	E362V	probably damaging	Het
Zfp811	A	G	17: 33,016,487 (GRCm39)	Y518H	probably damaging	Het
Zfp994	A	C	17: 22,419,049 (GRCm39)	C633W	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
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'- TGTATCGCAAAGGCTTGGG -3'
(R):5'- ATTGCCATAAGTCCACGGACAC -3'

Sequencing Primer
(F):5'- TCGCAAAGGCTTGGGATCTC -3'
(R):5'- CCGTCAGAAACAGAAGACAGCTG -3'

Posted On

2019-09-13