Mutagenetix > Incidental Mutation

Incidental Mutation 'R5973:Or52e2'

471546

Institutional Source

Beutler Lab

Gene Symbol

Or52e2

Ensembl Gene

ENSMUSG00000051362

Gene Name

olfactory receptor family 52 subfamily E member 2

Synonyms

GA_x6K02T2PBJ9-5871256-5870303, MOR32-3, Olfr589

MMRRC Submission

044156-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R5973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102803999-102804952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102804081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 291 (V291A)

Ref Sequence

ENSEMBL: ENSMUSP00000151739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061055] [ENSMUST00000218483]

AlphaFold

Q8VGV8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061055
AA Change: V291A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060166
Gene: ENSMUSG00000051362
AA Change: V291A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	3.1e-132	PFAM
Pfam:7TM_GPCR_Srsx	37	171	1.5e-7	PFAM
Pfam:7tm_1	43	293	1.1e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218483
AA Change: V291A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,364,928 (GRCm39)	I1536N	probably damaging	Het
Actr1b	A	G	1: 36,741,162 (GRCm39)	S140P	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc7	A	T	5: 122,566,366 (GRCm39)	T92S	probably benign	Het
Ash2l	G	A	8: 26,307,642 (GRCm39)	T585M	possibly damaging	Het
Asxl1	T	C	2: 153,243,931 (GRCm39)	F1495L	probably damaging	Het
Atp5pf	T	C	16: 84,625,328 (GRCm39)		probably null	Het
Bcl2a1c	A	G	9: 114,159,465 (GRCm39)	N81S	probably benign	Het
Bfsp2	A	C	9: 103,309,856 (GRCm39)		probably null	Het
Casq1	A	G	1: 172,047,068 (GRCm39)	Y64H	probably damaging	Het
Ceacam16	A	G	7: 19,590,262 (GRCm39)	V227A	probably damaging	Het
Cers6	T	A	2: 68,898,969 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,686,671 (GRCm39)		probably benign	Het
Clpb	G	A	7: 101,313,204 (GRCm39)	V63I	probably benign	Het
Dnah11	G	T	12: 118,074,687 (GRCm39)	D1388E	probably benign	Het
Dst	T	C	1: 34,195,938 (GRCm39)	L405P	probably damaging	Het
Dstyk	A	G	1: 132,362,149 (GRCm39)	E193G	probably damaging	Het
Dusp2	A	T	2: 127,179,208 (GRCm39)	S188C	probably damaging	Het
Ep400	T	C	5: 110,877,697 (GRCm39)	I810V	unknown	Het
Faim2	C	T	15: 99,419,132 (GRCm39)	G79D	probably benign	Het
Fpgt	A	T	3: 154,793,040 (GRCm39)	I329K	probably damaging	Het
Fut8	A	G	12: 77,411,771 (GRCm39)	T78A	probably benign	Het
Gm15130	A	G	2: 110,965,714 (GRCm39)		probably benign	Het
Gm17087	A	C	17: 8,785,529 (GRCm39)	I58R	probably benign	Het
Grk2	T	C	19: 4,337,925 (GRCm39)	D485G	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hmcn1	A	G	1: 150,439,568 (GRCm39)	S5539P	probably damaging	Het
Hmcn2	G	A	2: 31,310,335 (GRCm39)	V3310M	probably damaging	Het
Impdh1	A	T	6: 29,207,161 (GRCm39)	L61Q	probably damaging	Het
Inhbb	A	T	1: 119,345,806 (GRCm39)	V161D	possibly damaging	Het
Kansl2	C	T	15: 98,427,306 (GRCm39)	V192M	probably damaging	Het
Krt1c	T	C	15: 101,724,747 (GRCm39)	K288E	probably damaging	Het
Lyar	A	G	5: 38,385,290 (GRCm39)	K110R	probably damaging	Het
Lyrm9	C	A	11: 78,726,961 (GRCm39)	H35N	probably damaging	Het
Mab21l1	A	G	3: 55,690,533 (GRCm39)	D40G	probably benign	Het
Maml2	A	C	9: 13,532,915 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,162,401 (GRCm39)	H69R	probably benign	Het
Morc2b	G	T	17: 33,356,446 (GRCm39)	A442E	probably damaging	Het
Moxd2	A	T	6: 40,855,744 (GRCm39)	L615Q	probably damaging	Het
Msh2	G	A	17: 88,016,011 (GRCm39)	G548S	probably damaging	Het
Napg	G	A	18: 63,128,054 (GRCm39)	S279N	possibly damaging	Het
Ncor1	A	T	11: 62,240,136 (GRCm39)		probably null	Het
Nkiras2	G	T	11: 100,516,866 (GRCm39)	R128L	probably damaging	Het
Npy4r	T	C	14: 33,868,664 (GRCm39)	D208G	probably benign	Het
Or10ak11	C	T	4: 118,687,413 (GRCm39)	V75I	probably benign	Het
Or8b42	G	T	9: 38,341,627 (GRCm39)	L16F	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,560 (GRCm39)	T184A	probably benign	Het
Plxna4	T	C	6: 32,228,000 (GRCm39)		probably null	Het
Pnldc1	C	T	17: 13,113,260 (GRCm39)	E328K	probably benign	Het
Pon1	T	A	6: 5,185,334 (GRCm39)	L55F	probably damaging	Het
Pramel51	T	C	12: 88,142,683 (GRCm39)	I312V	probably benign	Het
Prkci	G	T	3: 31,092,605 (GRCm39)	D296Y	probably damaging	Het
Prkd1	T	C	12: 50,435,038 (GRCm39)	H563R	probably damaging	Het
Ptpru	T	C	4: 131,546,236 (GRCm39)	N266S	probably benign	Het
Rapgef6	A	T	11: 54,530,609 (GRCm39)	I589F	probably damaging	Het
Rcan3	A	T	4: 135,145,853 (GRCm39)	S127T	probably benign	Het
Sh3tc2	A	G	18: 62,110,975 (GRCm39)	D277G	probably benign	Het
Sipa1l3	G	A	7: 29,098,949 (GRCm39)	A440V	probably benign	Het
Slc13a2	A	C	11: 78,291,358 (GRCm39)	I372S	probably damaging	Het
Slco1a7	T	A	6: 141,700,182 (GRCm39)	T117S	probably benign	Het
Spns1	A	T	7: 125,969,495 (GRCm39)	I528N	probably damaging	Het
Sult6b2	T	C	6: 142,736,021 (GRCm39)	K191R	probably benign	Het
Swt1	A	G	1: 151,278,700 (GRCm39)		probably null	Het
Tcn2	A	T	11: 3,877,546 (GRCm39)	L34*	probably null	Het
Tmem131l	C	T	3: 83,829,553 (GRCm39)	A1035T	possibly damaging	Het
Trpc4	A	G	3: 54,223,263 (GRCm39)	E733G	probably damaging	Het
Uap1l1	A	T	2: 25,254,642 (GRCm39)	H184Q	possibly damaging	Het
Vil1	T	G	1: 74,455,192 (GRCm39)	V48G	possibly damaging	Het
Vps39	A	T	2: 120,159,186 (GRCm39)	H367Q	probably damaging	Het
Wars2	A	G	3: 99,094,962 (GRCm39)	T86A	probably benign	Het
Wdr90	A	G	17: 26,064,107 (GRCm39)	S1872P	probably damaging	Het
Wdr90	A	G	17: 26,065,381 (GRCm39)	L1625P	probably damaging	Het
Xaf1	A	T	11: 72,194,256 (GRCm39)	M46L	probably damaging	Het
Zfp1005	A	G	2: 150,109,855 (GRCm39)	T182A	unknown	Het

Other mutations in Or52e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01955:Or52e2	APN	7	102,804,061 (GRCm39)	nonsense	probably null
IGL02059:Or52e2	APN	7	102,804,310 (GRCm39)	missense	probably benign	0.14
IGL02336:Or52e2	APN	7	102,804,772 (GRCm39)	missense	probably benign	0.09
IGL03355:Or52e2	APN	7	102,804,408 (GRCm39)	missense	probably damaging	1.00
PIT4508001:Or52e2	UTSW	7	102,804,520 (GRCm39)	missense	probably benign
R0900:Or52e2	UTSW	7	102,804,520 (GRCm39)	missense	probably benign
R2250:Or52e2	UTSW	7	102,804,157 (GRCm39)	missense	probably damaging	1.00
R3500:Or52e2	UTSW	7	102,804,297 (GRCm39)	missense	probably damaging	1.00
R4756:Or52e2	UTSW	7	102,804,332 (GRCm39)	missense	probably benign	0.24
R4776:Or52e2	UTSW	7	102,804,621 (GRCm39)	missense	probably benign	0.40
R5022:Or52e2	UTSW	7	102,804,942 (GRCm39)	missense	probably benign
R5151:Or52e2	UTSW	7	102,804,593 (GRCm39)	missense	probably damaging	0.99
R5231:Or52e2	UTSW	7	102,804,175 (GRCm39)	missense	probably damaging	1.00
R5870:Or52e2	UTSW	7	102,804,948 (GRCm39)	missense	probably benign	0.00
R6567:Or52e2	UTSW	7	102,804,135 (GRCm39)	missense	possibly damaging	0.94
R7095:Or52e2	UTSW	7	102,804,537 (GRCm39)	missense	probably damaging	1.00
R8214:Or52e2	UTSW	7	102,804,613 (GRCm39)	missense	probably damaging	1.00
R8915:Or52e2	UTSW	7	102,804,411 (GRCm39)	missense	probably damaging	1.00
R8921:Or52e2	UTSW	7	102,804,660 (GRCm39)	missense	probably benign
R9258:Or52e2	UTSW	7	102,804,409 (GRCm39)	nonsense	probably null
R9679:Or52e2	UTSW	7	102,804,652 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGAATGGTGACTTAGCTTCCTATTG -3'
(R):5'- TGCAAGTGTCAAGGCCAATG -3'

Sequencing Primer
(F):5'- GGAAAGTGACTTTTACTGCAGAAC -3'
(R):5'- GTGTCAAGGCCAATGTAATTTATGGC -3'

Posted On

2017-03-31