Mutagenetix > Incidental Mutation

Incidental Mutation 'R1615:Oxgr1'

177073

Institutional Source

Beutler Lab

Gene Symbol

Oxgr1

Ensembl Gene

ENSMUSG00000044819

Gene Name

oxoglutarate (alpha-ketoglutarate) receptor 1

Synonyms

P2Y15, Cysltr3, LOC239283, Gpr99, Gpr80

MMRRC Submission

039652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120256997-120279847 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120260185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 7 (S7R)

Ref Sequence

ENSEMBL: ENSMUSP00000055137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058213]

AlphaFold

Q6IYF8

Predicted Effect

probably benign
Transcript: ENSMUST00000058213
AA Change: S7R

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055137
Gene: ENSMUSG00000044819
AA Change: S7R

Domain	Start	End	E-Value	Type
Pfam:7tm_1	50	302	3.8e-35	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced leukotriene E4 ligand (LTE4)-induced ear edema at low and intermediate doses and abnormal acid-base balance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,743,625 (GRCm39)	C328S	probably benign	Het
Adgrv1	G	T	13: 81,572,407 (GRCm39)	T4918K	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Amer3	T	C	1: 34,627,252 (GRCm39)	M497T	probably damaging	Het
Arid2	C	T	15: 96,269,535 (GRCm39)	T1216M	possibly damaging	Het
Birc6	A	G	17: 74,916,404 (GRCm39)		probably null	Het
Bzw2	A	G	12: 36,169,126 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,763,573 (GRCm39)	H319R	probably benign	Het
Dnah11	A	G	12: 118,014,457 (GRCm39)	I2010T	probably damaging	Het
Dnhd1	A	G	7: 105,352,413 (GRCm39)	Y2522C	probably benign	Het
Dnhd1	T	A	7: 105,362,913 (GRCm39)	I3825K	possibly damaging	Het
Dst	A	T	1: 34,238,452 (GRCm39)	D3718V	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Fbxw21	T	C	9: 108,972,794 (GRCm39)	Y380C	probably damaging	Het
Fhad1	G	A	4: 141,649,634 (GRCm39)	T836M	probably damaging	Het
Fhod1	C	T	8: 106,074,463 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,576,098 (GRCm39)	C637R	probably damaging	Het
Fmnl2	A	G	2: 53,008,436 (GRCm39)	K809E	probably damaging	Het
Grm1	G	T	10: 10,617,252 (GRCm39)	Y510*	probably null	Het
Hey1	A	T	3: 8,729,898 (GRCm39)	H186Q	possibly damaging	Het
Insyn1	C	T	9: 58,406,351 (GRCm39)	A87V	probably damaging	Het
Itga2b	C	T	11: 102,350,963 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Lmcd1	A	G	6: 112,250,911 (GRCm39)	D7G	probably benign	Het
Lrrc1	T	C	9: 77,342,400 (GRCm39)	D358G	possibly damaging	Het
Lyn	A	G	4: 3,748,765 (GRCm39)	K248E	probably benign	Het
Map4k4	A	G	1: 40,045,990 (GRCm39)		probably benign	Het
Map4k5	A	T	12: 69,891,187 (GRCm39)	L160H	probably damaging	Het
Mtcl2	T	G	2: 156,862,663 (GRCm39)	H1422P	probably damaging	Het
Myo6	C	T	9: 80,215,007 (GRCm39)	R1247C	probably damaging	Het
Myo9a	A	G	9: 59,695,739 (GRCm39)	E347G	possibly damaging	Het
Ndfip1	C	T	18: 38,593,672 (GRCm39)	P213S	probably benign	Het
Neurl3	T	C	1: 36,308,470 (GRCm39)	E114G	possibly damaging	Het
Nlrp14	A	T	7: 106,795,370 (GRCm39)	I877F	probably benign	Het
Obscn	A	G	11: 58,990,651 (GRCm39)	S1733P	probably benign	Het
Plcb1	A	T	2: 135,204,364 (GRCm39)		probably benign	Het
Prkag2	G	T	5: 25,080,176 (GRCm39)	N120K	possibly damaging	Het
Rnf43	C	T	11: 87,622,485 (GRCm39)	R529*	probably null	Het
Saraf	A	G	8: 34,632,442 (GRCm39)	K174E	possibly damaging	Het
Scrib	T	C	15: 75,938,054 (GRCm39)	Q264R	probably benign	Het
Sh3rf3	T	A	10: 58,966,899 (GRCm39)	M747K	probably benign	Het
Shf	T	C	2: 122,179,913 (GRCm39)	H421R	probably damaging	Het
Slc35g3	A	G	11: 69,651,368 (GRCm39)	S228P	probably damaging	Het
Slit1	A	G	19: 41,639,110 (GRCm39)		probably benign	Het
Srrm4	A	G	5: 116,585,359 (GRCm39)		probably benign	Het
Stfa1	T	G	16: 36,100,829 (GRCm39)	V23G	probably damaging	Het
Swap70	A	G	7: 109,872,498 (GRCm39)	D371G	probably benign	Het
Tada2a	T	C	11: 83,993,926 (GRCm39)	D186G	probably damaging	Het
Tdpoz3	C	A	3: 93,733,618 (GRCm39)	Q98K	probably benign	Het
Tgfbrap1	A	G	1: 43,091,145 (GRCm39)	V660A	probably benign	Het
Tnn	A	G	1: 159,945,978 (GRCm39)	Y947H	possibly damaging	Het
Trim60	A	T	8: 65,453,162 (GRCm39)	C362*	probably null	Het
Vmn1r81	T	A	7: 11,994,441 (GRCm39)	N56Y	probably damaging	Het
Vsig8	A	G	1: 172,387,280 (GRCm39)	D52G	probably damaging	Het
Wdfy4	G	A	14: 32,764,469 (GRCm39)	R2140C	probably damaging	Het

Other mutations in Oxgr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02167:Oxgr1	APN	14	120,259,342 (GRCm39)	missense	probably damaging	0.97
IGL02678:Oxgr1	APN	14	120,259,580 (GRCm39)	missense	probably damaging	1.00
IGL03387:Oxgr1	APN	14	120,260,199 (GRCm39)	nonsense	probably null
IGL03394:Oxgr1	APN	14	120,260,022 (GRCm39)	missense	possibly damaging	0.65
R2919:Oxgr1	UTSW	14	120,260,221 (GRCm39)	start gained	probably benign
R4223:Oxgr1	UTSW	14	120,260,025 (GRCm39)	missense	probably damaging	1.00
R4409:Oxgr1	UTSW	14	120,259,572 (GRCm39)	missense	possibly damaging	0.67
R4783:Oxgr1	UTSW	14	120,259,776 (GRCm39)	missense	probably benign
R5213:Oxgr1	UTSW	14	120,259,552 (GRCm39)	nonsense	probably null
R5226:Oxgr1	UTSW	14	120,259,665 (GRCm39)	missense	probably damaging	1.00
R6416:Oxgr1	UTSW	14	120,259,860 (GRCm39)	missense	probably damaging	0.99
R6491:Oxgr1	UTSW	14	120,259,419 (GRCm39)	missense	probably benign	0.01
R6670:Oxgr1	UTSW	14	120,259,669 (GRCm39)	missense	probably damaging	1.00
R6904:Oxgr1	UTSW	14	120,259,431 (GRCm39)	missense	possibly damaging	0.90
R7089:Oxgr1	UTSW	14	120,259,614 (GRCm39)	missense	probably damaging	1.00
R7819:Oxgr1	UTSW	14	120,260,281 (GRCm39)	critical splice acceptor site	probably null
R9672:Oxgr1	UTSW	14	120,259,454 (GRCm39)	missense	probably damaging	1.00
R9731:Oxgr1	UTSW	14	120,260,094 (GRCm39)	missense	probably benign	0.00
R9803:Oxgr1	UTSW	14	120,259,563 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AAGCCGAAGCGGATGAACTTGCAC -3'
(R):5'- TGTCAGAGCCATGCCTACGAGTTG -3'

Sequencing Primer
(F):5'- AGCATGATGACTGTACTGCC -3'
(R):5'- CCATGCCTACGAGTTGATTGTTG -3'

Posted On

2014-04-24