Mutagenetix > Incidental Mutation

Incidental Mutation 'R5396:Trpv4'

429660

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

044394-MU

Accession Numbers

Essential gene?

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

Stock #

R5396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114760213-114796482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114761675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 818 (R818C)

Ref Sequence

ENSEMBL: ENSMUSP00000107844 (fasta)

Gene Model

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

AlphaFold

Q9EPK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071968
AA Change: R818C

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: R818C

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: R758C

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107836
Gene: ENSMUSG00000014158
AA Change: R758C

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: R711C

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107838
Gene: ENSMUSG00000014158
AA Change: R711C

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: R771C

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: R771C

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: R818C

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: R818C

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	C	2: 127,028,873 (GRCm39)	T109A	probably damaging	Het
A430005L14Rik	GCC	G	4: 154,045,410 (GRCm39)		probably null	Het
Actr1a	T	C	19: 46,384,103 (GRCm39)	D5G	possibly damaging	Het
Adra2c	A	G	5: 35,438,217 (GRCm39)	T330A	probably benign	Het
Ahcyl2	C	T	6: 29,859,697 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,984,539 (GRCm39)	V1941A	probably damaging	Het
Akr1b7	G	A	6: 34,389,411 (GRCm39)		probably null	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ank2	A	G	3: 126,746,875 (GRCm39)	V570A	probably damaging	Het
Ano4	T	C	10: 88,948,702 (GRCm39)	E302G	probably damaging	Het
Bop1	A	T	15: 76,339,489 (GRCm39)	H285Q	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Catsperb	A	T	12: 101,560,543 (GRCm39)	I845L	possibly damaging	Het
Ccdc28b	G	T	4: 129,513,238 (GRCm39)	Q184K	probably damaging	Het
Cd101	A	G	3: 100,926,126 (GRCm39)	S198P	probably damaging	Het
Cdc7	A	T	5: 107,117,163 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,884,269 (GRCm39)	D1268G	probably benign	Het
Celsr3	C	T	9: 108,705,781 (GRCm39)	R755W	probably damaging	Het
Chrnb1	T	A	11: 69,684,979 (GRCm39)	N117I	probably damaging	Het
Chst11	C	A	10: 83,027,083 (GRCm39)	P170Q	probably damaging	Het
Clca3b	A	G	3: 144,552,932 (GRCm39)	Y98H	probably damaging	Het
Crnkl1	A	G	2: 145,770,132 (GRCm39)	V237A	possibly damaging	Het
Ctnnbl1	G	A	2: 157,659,752 (GRCm39)		probably null	Het
Dbndd1	C	A	8: 124,236,582 (GRCm39)	R95S	probably damaging	Het
Ddx3y	A	G	Y: 1,265,965 (GRCm39)	V344A	probably damaging	Het
Defb30	A	T	14: 63,273,559 (GRCm39)		probably null	Het
Dennd10	T	C	19: 60,823,274 (GRCm39)	L303P	probably benign	Het
Dnah17	C	T	11: 118,018,108 (GRCm39)	R129Q	probably benign	Het
Dnhd1	A	T	7: 105,362,891 (GRCm39)	M3818L	probably benign	Het
Dusp4	G	T	8: 35,284,458 (GRCm39)	D258Y	probably damaging	Het
E2f1	A	T	2: 154,406,368 (GRCm39)	F103I	probably benign	Het
Elavl2	T	C	4: 91,149,055 (GRCm39)	Y248C	probably damaging	Het
Ephb3	T	C	16: 21,037,855 (GRCm39)	V310A	possibly damaging	Het
Erbin	A	G	13: 103,993,917 (GRCm39)		probably null	Het
Etv4	A	T	11: 101,666,167 (GRCm39)	H120Q	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,608 (GRCm39)	F474L	probably benign	Het
Flot2	T	A	11: 77,940,314 (GRCm39)	C20*	probably null	Het
Fsip2	G	A	2: 82,821,262 (GRCm39)	G5665D	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Glrp1	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	1: 88,431,066 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,427,955 (GRCm39)	L202*	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hnf1b	A	T	11: 83,746,863 (GRCm39)	M160L	probably damaging	Het
Inhbe	T	C	10: 127,186,470 (GRCm39)	T237A	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kmt2c	A	T	5: 25,499,732 (GRCm39)		probably null	Het
Kyat3	A	G	3: 142,440,367 (GRCm39)	K364E	probably benign	Het
Lars1	T	A	18: 42,350,024 (GRCm39)	T927S	probably benign	Het
Mfap1b	A	T	2: 121,304,371 (GRCm39)	M8K	probably benign	Het
Mroh8	G	A	2: 157,070,576 (GRCm39)	P592S	possibly damaging	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1x6	C	T	11: 50,939,297 (GRCm39)	A121V	probably damaging	Het
Or4c110	A	T	2: 88,832,540 (GRCm39)	L31M	probably benign	Het
Or51a24	T	C	7: 103,734,098 (GRCm39)	Y63C	probably benign	Het
Pcdha8	T	A	18: 37,126,787 (GRCm39)	V423E	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pde8a	T	C	7: 80,983,170 (GRCm39)	V791A	probably damaging	Het
Pds5a	A	G	5: 65,795,920 (GRCm39)	S657P	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Rad51d	A	G	11: 82,781,196 (GRCm39)	V17A	possibly damaging	Het
Sdc1	A	T	12: 8,841,743 (GRCm39)		probably null	Het
Sdcbp2	T	A	2: 151,429,057 (GRCm39)	I152N	probably damaging	Het
Slc4a4	G	T	5: 89,194,076 (GRCm39)	M141I	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spata6	T	C	4: 111,656,315 (GRCm39)	C320R	probably damaging	Het
Spata6l	T	C	19: 28,905,089 (GRCm39)	H325R	possibly damaging	Het
Ssu2	T	A	6: 112,357,957 (GRCm39)	T129S	probably damaging	Het
Stat5a	T	A	11: 100,771,409 (GRCm39)	W631R	probably damaging	Het
Sult1c2	T	A	17: 54,143,939 (GRCm39)	N122I	possibly damaging	Het
Synpo2	G	A	3: 122,911,331 (GRCm39)	Q105*	probably null	Het
Tert	G	A	13: 73,787,362 (GRCm39)	V783I	probably damaging	Het
Ticam1	G	T	17: 56,578,117 (GRCm39)	T326K	probably benign	Het
Tmem63b	T	C	17: 45,980,888 (GRCm39)	M269V	possibly damaging	Het
Tmem86a	T	A	7: 46,702,794 (GRCm39)	V73E	possibly damaging	Het
Tstd2	A	G	4: 46,135,542 (GRCm39)	S4P	probably benign	Het
Ttn	A	T	2: 76,644,715 (GRCm39)	V4686E	probably damaging	Het
Ubash3b	A	G	9: 40,954,769 (GRCm39)		probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Usp33	A	G	3: 152,089,824 (GRCm39)	E780G	possibly damaging	Het
Vapb	T	A	2: 173,613,336 (GRCm39)	Y78*	probably null	Het
Vps13b	G	A	15: 35,887,094 (GRCm39)	R3227Q	probably damaging	Het
Vps33a	A	T	5: 123,696,693 (GRCm39)	I320N	probably damaging	Het
Wnt5a	T	C	14: 28,244,727 (GRCm39)	C305R	probably damaging	Het
Zbtb38	A	G	9: 96,569,696 (GRCm39)	C463R	probably damaging	Het
Zc3h12d	G	A	10: 7,742,090 (GRCm39)	C263Y	probably damaging	Het
Zfp971	G	A	2: 177,675,526 (GRCm39)	R375Q	probably damaging	Het
Znrf1	T	A	8: 112,345,826 (GRCm39)		probably null	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
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'- ATCCAGCATCATGAAACAGGG -3'
(R):5'- TGCTGACTCAGAGAGATGACC -3'

Sequencing Primer
(F):5'- CATCATGAAACAGGGAGGGTTG -3'
(R):5'- ACCCTGGCAAGAGTGAAA -3'

Posted On

2016-09-06