Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Trpv4'

730242

Institutional Source

Beutler Lab

Gene Symbol

Trpv4

Ensembl Gene

ENSMUSG00000014158

Gene Name

transient receptor potential cation channel, subfamily V, member 4

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114622152-114658421 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 114633150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 439 (Y439*)

Ref Sequence

ENSEMBL: ENSMUSP00000071859 (fasta)

Gene Model

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

AlphaFold

Q9EPK8

Predicted Effect

probably null
Transcript: ENSMUST00000071968
AA Change: Y439*

SMART Domains

Protein: ENSMUSP00000071859
Gene: ENSMUSG00000014158
AA Change: Y439*

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

SMART Domains

Protein: ENSMUSP00000107836
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	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 null
Transcript: ENSMUST00000112222
AA Change: Y392*

SMART Domains

Protein: ENSMUSP00000107840
Gene: ENSMUSG00000014158
AA Change: Y392*

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 null
Transcript: ENSMUST00000112225
AA Change: Y439*

SMART Domains

Protein: ENSMUSP00000107844
Gene: ENSMUSG00000014158
AA Change: Y439*

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: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	Het

Other mutations in Trpv4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Trpv4	APN	5	114628625	missense	probably damaging	1.00
IGL01804:Trpv4	APN	5	114644786	missense	possibly damaging	0.77
IGL01955:Trpv4	APN	5	114622682	nonsense	probably null
IGL02115:Trpv4	APN	5	114625029	missense	probably damaging	1.00
IGL02375:Trpv4	APN	5	114636357	missense	probably benign	0.10
IGL02870:Trpv4	APN	5	114625056	missense	probably damaging	1.00
PIT4472001:Trpv4	UTSW	5	114626923	missense	probably damaging	0.99
R0045:Trpv4	UTSW	5	114636457	missense	probably benign
R0045:Trpv4	UTSW	5	114636457	missense	probably benign
R0217:Trpv4	UTSW	5	114634661	missense	possibly damaging	0.68
R0346:Trpv4	UTSW	5	114630529	splice site	probably benign
R0358:Trpv4	UTSW	5	114630432	missense	probably damaging	1.00
R1745:Trpv4	UTSW	5	114633154	missense	probably damaging	1.00
R1880:Trpv4	UTSW	5	114623626	missense	probably benign	0.00
R1881:Trpv4	UTSW	5	114623626	missense	probably benign	0.00
R2018:Trpv4	UTSW	5	114634605	missense	probably damaging	1.00
R2093:Trpv4	UTSW	5	114635504	missense	probably damaging	1.00
R2172:Trpv4	UTSW	5	114644710	missense	probably damaging	1.00
R2679:Trpv4	UTSW	5	114635552	missense	probably damaging	1.00
R3699:Trpv4	UTSW	5	114634800	missense	probably damaging	1.00
R4731:Trpv4	UTSW	5	114622753	missense	possibly damaging	0.81
R4732:Trpv4	UTSW	5	114622753	missense	possibly damaging	0.81
R4733:Trpv4	UTSW	5	114622753	missense	possibly damaging	0.81
R4822:Trpv4	UTSW	5	114630022	missense	possibly damaging	0.66
R4985:Trpv4	UTSW	5	114622732	missense	probably benign	0.00
R4987:Trpv4	UTSW	5	114622732	missense	probably benign	0.00
R5026:Trpv4	UTSW	5	114622654	makesense	probably null
R5105:Trpv4	UTSW	5	114626920	missense	probably damaging	1.00
R5236:Trpv4	UTSW	5	114622795	missense	possibly damaging	0.81
R5330:Trpv4	UTSW	5	114635543	missense	probably damaging	1.00
R5331:Trpv4	UTSW	5	114635543	missense	probably damaging	1.00
R5396:Trpv4	UTSW	5	114623614	missense	possibly damaging	0.77
R5423:Trpv4	UTSW	5	114636445	missense	probably benign	0.25
R5667:Trpv4	UTSW	5	114634556	missense	probably damaging	1.00
R5896:Trpv4	UTSW	5	114622647	utr 3 prime	probably benign
R6239:Trpv4	UTSW	5	114644826	missense	probably benign
R6762:Trpv4	UTSW	5	114625110	missense	probably benign	0.07
R6952:Trpv4	UTSW	5	114633202	missense	probably damaging	1.00
R7191:Trpv4	UTSW	5	114633140	missense	probably benign
R7343:Trpv4	UTSW	5	114636459	missense	probably benign	0.42
R7951:Trpv4	UTSW	5	114622810	missense	probably benign	0.33
R8551:Trpv4	UTSW	5	114630839	missense	possibly damaging	0.96
R8803:Trpv4	UTSW	5	114634755	missense	probably benign	0.08
R8871:Trpv4	UTSW	5	114630450	missense	probably benign	0.00
R9228:Trpv4	UTSW	5	114634561	missense	probably benign	0.02
R9250:Trpv4	UTSW	5	114626880	missense	probably damaging	1.00
R9291:Trpv4	UTSW	5	114630007	missense	probably benign
R9304:Trpv4	UTSW	5	114644641	nonsense	probably null
R9383:Trpv4	UTSW	5	114658413	start gained	probably benign
R9654:Trpv4	UTSW	5	114626826	missense	probably benign	0.26
R9697:Trpv4	UTSW	5	114633224	missense	possibly damaging	0.94
Z1177:Trpv4	UTSW	5	114634612	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAACTGTTTCCGGACCAGG -3'
(R):5'- TGGCAGGTCTTTCAGCACATC -3'

Sequencing Primer
(F):5'- CTGGGCCACACAGTAAATATATG -3'
(R):5'- ACATCATCCGACGTGAGGTGAC -3'

Posted On

2022-10-06