Mutagenetix > Incidental Mutation

Incidental Mutation 'R4731:Trpv4'

358816

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

042021-MU

Accession Numbers

Essential gene?

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

Stock #

R4731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114760213-114796482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114760814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 732 (D732G)

Ref Sequence

ENSEMBL: ENSMUSP00000107838 (fasta)

Gene Model

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

AlphaFold

Q9EPK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071968
AA Change: D839G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: D839G

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: D779G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: D779G

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: D732G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158
AA Change: D732G

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

possibly damaging
Transcript: ENSMUST00000112222
AA Change: D792G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: D792G

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

possibly damaging
Transcript: ENSMUST00000112225
AA Change: D839G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: D839G

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

0.1265

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (117/118)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	A	7: 26,900,468 (GRCm39)	M149K	probably damaging	Het
Adamts12	A	T	15: 11,270,748 (GRCm39)	S668C	probably damaging	Het
Adcy8	A	G	15: 64,626,711 (GRCm39)	V709A	possibly damaging	Het
Aim2	T	A	1: 173,291,442 (GRCm39)	D282E	possibly damaging	Het
Akap9	T	A	5: 4,012,266 (GRCm39)	S990T	possibly damaging	Het
Aloxe3	A	T	11: 69,019,480 (GRCm39)	D131V	probably null	Het
Ankrd28	A	C	14: 31,477,698 (GRCm39)	C115G	probably benign	Het
Anxa2	A	T	9: 69,393,812 (GRCm39)	M217L	probably benign	Het
Asah2	T	C	19: 31,972,758 (GRCm39)	N659S	probably benign	Het
Btaf1	A	G	19: 36,958,478 (GRCm39)	D665G	probably benign	Het
Cdc42bpg	T	A	19: 6,361,221 (GRCm39)	V282E	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdipt	T	A	7: 126,577,530 (GRCm39)	L92H	probably damaging	Het
Cep104	T	A	4: 154,072,883 (GRCm39)	D380E	probably damaging	Het
Cfap74	T	A	4: 155,548,059 (GRCm39)		probably benign	Het
Chd1	A	T	17: 17,598,079 (GRCm39)	E55D	probably benign	Het
Cldnd2	T	A	7: 43,091,613 (GRCm39)	C65S	possibly damaging	Het
Clec9a	G	T	6: 129,393,299 (GRCm39)	A108S	probably benign	Het
Cog7	T	C	7: 121,563,467 (GRCm39)	D215G	probably benign	Het
Col9a3	G	A	2: 180,252,474 (GRCm39)	E373K	probably damaging	Het
Deptor	C	A	15: 55,044,406 (GRCm39)	H191N	probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dnah7c	T	A	1: 46,809,333 (GRCm39)	N3550K	probably damaging	Het
Dnah8	A	G	17: 30,994,035 (GRCm39)	K3384R	probably null	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,323,056 (GRCm39)	N521K	probably benign	Het
Efhb	G	A	17: 53,733,272 (GRCm39)	T533I	probably damaging	Het
Ercc4	A	T	16: 12,965,471 (GRCm39)	H701L	probably damaging	Het
Ern1	A	T	11: 106,325,676 (GRCm39)		probably benign	Het
Etfb	T	C	7: 43,093,624 (GRCm39)	V17A	probably damaging	Het
Evc	T	A	5: 37,481,141 (GRCm39)	M235L	probably benign	Het
Fbxw22	T	C	9: 109,207,937 (GRCm39)	I445V	probably benign	Het
Fmnl2	A	G	2: 53,007,081 (GRCm39)	T764A	possibly damaging	Het
Fto	T	A	8: 92,136,342 (GRCm39)	D205E	probably damaging	Het
Galntl6	G	A	8: 58,880,847 (GRCm39)	P147L	probably damaging	Het
Gm6871	T	C	7: 41,196,173 (GRCm39)	I39V	probably benign	Het
Gpr83	A	G	9: 14,777,470 (GRCm39)		probably benign	Het
Gucy1a2	A	T	9: 3,759,424 (GRCm39)	H410L	probably benign	Het
Helb	T	C	10: 119,930,193 (GRCm39)		probably null	Het
Ifi214	T	C	1: 173,354,157 (GRCm39)	Q171R	probably benign	Het
Ifit1bl1	T	C	19: 34,571,721 (GRCm39)	I245M	probably benign	Het
Igdcc3	A	G	9: 65,089,279 (GRCm39)	T492A	probably damaging	Het
Ighv13-1	T	C	12: 114,231,252 (GRCm39)		probably benign	Het
Igkv4-50	T	C	6: 69,677,984 (GRCm39)	K40R	probably benign	Het
Igkv8-18	T	A	6: 70,333,280 (GRCm39)	I74N	probably damaging	Het
Iho1	A	G	9: 108,282,584 (GRCm39)	V368A	probably benign	Het
Kbtbd7	T	C	14: 79,666,240 (GRCm39)	*691Q	probably null	Het
Khnyn	T	A	14: 56,123,946 (GRCm39)		probably null	Het
Kif26a	G	A	12: 112,142,007 (GRCm39)	A754T	probably benign	Het
Llgl1	T	A	11: 60,597,051 (GRCm39)	L194*	probably null	Het
Map3k12	G	T	15: 102,409,717 (GRCm39)	T686N	probably benign	Het
Myo18a	C	A	11: 77,720,585 (GRCm39)	P741Q	probably benign	Het
Ncaph2	G	A	15: 89,240,030 (GRCm39)		probably benign	Het
Nfkb2	A	G	19: 46,297,403 (GRCm39)	Q406R	possibly damaging	Het
Or10g9b	A	T	9: 39,917,564 (GRCm39)	I227N	probably damaging	Het
Or11g2	T	A	14: 50,856,026 (GRCm39)	C116S	probably benign	Het
Or1ad6	G	A	11: 50,860,093 (GRCm39)	V83M	possibly damaging	Het
Or2i1	T	C	17: 37,507,915 (GRCm39)	T315A	probably damaging	Het
Or2n1e	T	A	17: 38,586,438 (GRCm39)	Y259N	probably damaging	Het
Or8b12	A	T	9: 37,657,831 (GRCm39)	T134S	probably benign	Het
Ostm1	C	T	10: 42,554,975 (GRCm39)		probably benign	Het
Pabpc1	A	T	15: 36,599,528 (GRCm39)	V389E	probably benign	Het
Pank4	A	T	4: 155,055,847 (GRCm39)	M291L	probably benign	Het
Pex6	A	G	17: 47,033,214 (GRCm39)	D579G	probably benign	Het
Pex6	A	G	17: 47,035,633 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,601,764 (GRCm39)	T73M	probably damaging	Het
Pkp4	G	A	2: 59,165,276 (GRCm39)		probably null	Het
Plekhg1	T	A	10: 3,907,506 (GRCm39)	S808T	probably benign	Het
Plk5	A	T	10: 80,194,631 (GRCm39)	H118L	probably damaging	Het
Pnlip	T	C	19: 58,664,919 (GRCm39)	I249T	probably benign	Het
Ptov1	T	C	7: 44,516,533 (GRCm39)	D134G	probably benign	Het
Ptprb	T	C	10: 116,155,238 (GRCm39)	V664A	probably benign	Het
Ptprz1	T	A	6: 23,002,609 (GRCm39)	S1566R	probably benign	Het
Pum1	T	C	4: 130,445,504 (GRCm39)	S158P	probably benign	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Ros1	A	C	10: 52,018,325 (GRCm39)	W778G	probably damaging	Het
Ryr2	A	T	13: 11,592,795 (GRCm39)	M4653K	possibly damaging	Het
Sacm1l	G	A	9: 123,419,895 (GRCm39)	V553I	probably benign	Het
Samd4b	G	A	7: 28,106,088 (GRCm39)	R377W	probably benign	Het
Selenoo	A	G	15: 88,983,531 (GRCm39)	Q524R	probably benign	Het
Slc30a3	T	C	5: 31,250,638 (GRCm39)	S22G	probably benign	Het
Slc35g2	A	C	9: 100,434,555 (GRCm39)	V372G	probably benign	Het
Slc5a8	T	C	10: 88,761,649 (GRCm39)		probably null	Het
Slc7a7	T	C	14: 54,646,190 (GRCm39)	Y91C	probably damaging	Het
Slc7a9	T	A	7: 35,152,988 (GRCm39)	Y135*	probably null	Het
Slfn1	A	T	11: 83,012,661 (GRCm39)	E259V	probably damaging	Het
Slmap	T	C	14: 26,189,690 (GRCm39)	N156S	probably damaging	Het
Smim29	A	G	17: 27,784,244 (GRCm39)		probably benign	Het
Sorbs1	T	A	19: 40,303,133 (GRCm39)	R485S	probably benign	Het
Sptbn2	T	A	19: 4,792,508 (GRCm39)	F1388I	probably damaging	Het
Stac2	C	T	11: 97,930,521 (GRCm39)	G349E	probably damaging	Het
Tigd2	T	A	6: 59,188,400 (GRCm39)	H422Q	probably benign	Het
Tle1	T	C	4: 72,043,256 (GRCm39)	N538D	possibly damaging	Het
Tmtc1	A	C	6: 148,186,478 (GRCm39)		probably null	Het
Tns3	C	T	11: 8,400,986 (GRCm39)	R1104H	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Trank1	T	C	9: 111,219,478 (GRCm39)	F2072L	probably damaging	Het
Trim6	T	C	7: 103,881,855 (GRCm39)	Y369H	probably damaging	Het
Trpc7	A	G	13: 56,952,366 (GRCm39)	S541P	probably damaging	Het
Tsc2	C	A	17: 24,822,249 (GRCm39)	V1141F	possibly damaging	Het
Tspoap1	T	A	11: 87,656,473 (GRCm39)	V257E	probably benign	Het
Ttn	A	T	2: 76,773,355 (GRCm39)	M2395K	unknown	Het
Ubd	A	C	17: 37,506,593 (GRCm39)	T160P	probably benign	Het
Ubr7	A	G	12: 102,735,485 (GRCm39)	T315A	probably benign	Het
Ugt2b36	G	T	5: 87,229,397 (GRCm39)	Y156*	probably null	Het
Ulk4	G	A	9: 121,092,704 (GRCm39)	R178*	probably null	Het
Urod	G	A	4: 116,848,870 (GRCm39)	A92V	possibly damaging	Het
Utp20	T	C	10: 88,590,382 (GRCm39)	D2364G	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,254 (GRCm39)	M11K	possibly damaging	Het
Vstm4	A	G	14: 32,639,859 (GRCm39)	K96E	possibly damaging	Het
Wwp1	T	C	4: 19,661,990 (GRCm39)	D172G	probably benign	Het
Zfhx3	A	G	8: 109,682,716 (GRCm39)	Q3385R	unknown	Het
Zfp229	C	T	17: 21,964,267 (GRCm39)	H166Y	possibly damaging	Het
Zfp738	A	T	13: 67,818,033 (GRCm39)	C653S	probably damaging	Het
Zp2	C	A	7: 119,737,343 (GRCm39)	V282L	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
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
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'- CACCGGACAAATGCCTAAATGTAG -3'
(R):5'- TCTTCCCTGTGTACACCAGG -3'

Sequencing Primer
(F):5'- CCTAAATGTAGGTGGGAGCG -3'
(R):5'- AGGGCAGGCATCTTGACTTCTC -3'

Posted On

2015-11-11