Mutagenetix > Incidental Mutation

Incidental Mutation 'R9679:Or52e2'

728412

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R9679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102803999-102804952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102804652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 101 (I101V)

Ref Sequence

ENSEMBL: ENSMUSP00000151739 (fasta)

Gene Model

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

AlphaFold

Q8VGV8

Predicted Effect

probably benign
Transcript: ENSMUST00000061055
AA Change: I101V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060166
Gene: ENSMUSG00000051362
AA Change: I101V

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

probably benign
Transcript: ENSMUST00000218483
AA Change: I101V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	A	12: 113,509,542 (GRCm39)	N638K	probably benign	Het
Arid5a	A	G	1: 36,357,648 (GRCm39)	K188E	possibly damaging	Het
Atp11a	T	C	8: 12,909,388 (GRCm39)	I1082T	possibly damaging	Het
Bdp1	T	A	13: 100,180,285 (GRCm39)	I1845F	probably damaging	Het
Ccdc87	A	C	19: 4,891,299 (GRCm39)	E597A	probably benign	Het
Cfap53	A	T	18: 74,492,656 (GRCm39)	Q460L	possibly damaging	Het
Clcn1	G	A	6: 42,263,753 (GRCm39)	S18N	probably damaging	Het
Cntnap3	C	A	13: 64,899,562 (GRCm39)	C977F	probably damaging	Het
Colec11	C	A	12: 28,644,829 (GRCm39)	V222L	probably benign	Het
Dchs2	G	T	3: 83,261,697 (GRCm39)	S2655I	probably damaging	Het
Dnah8	A	G	17: 31,037,115 (GRCm39)	T4227A	probably benign	Het
Dock5	G	A	14: 68,018,450 (GRCm39)	R1242W	probably damaging	Het
Ebf3	T	A	7: 136,832,964 (GRCm39)	N237I	possibly damaging	Het
F2rl3	T	A	8: 73,489,661 (GRCm39)	L296Q	probably damaging	Het
Fbn2	A	G	18: 58,201,433 (GRCm39)	I1328T	probably damaging	Het
Fes	T	C	7: 80,033,050 (GRCm39)	E258G	probably benign	Het
Gins4	G	A	8: 23,717,132 (GRCm39)	A212V	probably damaging	Het
Il15	T	C	8: 83,071,094 (GRCm39)	Y7C	probably benign	Het
Il9r	T	G	11: 32,140,853 (GRCm39)	H395P	probably benign	Het
Jade1	T	C	3: 41,567,569 (GRCm39)	S546P	probably damaging	Het
Krt72	C	T	15: 101,685,152 (GRCm39)	G469D	probably damaging	Het
Limd1	T	A	9: 123,308,457 (GRCm39)	M52K	probably damaging	Het
Mamdc2	T	C	19: 23,351,380 (GRCm39)	N182S	probably benign	Het
Mrpl14	A	G	17: 46,009,240 (GRCm39)	N113S	probably damaging	Het
Ms4a14	A	G	19: 11,280,048 (GRCm39)	S837P	possibly damaging	Het
Mtrex	A	G	13: 113,032,055 (GRCm39)	S586P	probably damaging	Het
Muc21	A	G	17: 35,930,491 (GRCm39)	S1232P	unknown	Het
Myh11	A	T	16: 14,095,436 (GRCm39)	Y109N		Het
Nfrkb	C	T	9: 31,321,385 (GRCm39)	T694M	probably benign	Het
Nlrp4b	T	G	7: 10,449,184 (GRCm39)	S462R	probably benign	Het
Or4k37	A	G	2: 111,159,345 (GRCm39)	T194A	probably benign	Het
Or5g9	T	A	2: 85,552,482 (GRCm39)	H244Q	probably damaging	Het
Or5h19	A	G	16: 58,856,521 (GRCm39)	L193P	possibly damaging	Het
Or6c76	A	G	10: 129,611,882 (GRCm39)	Y33C	probably damaging	Het
Rasip1	T	C	7: 45,277,327 (GRCm39)	V45A	possibly damaging	Het
Rgs22	A	G	15: 36,087,587 (GRCm39)	S568P	probably benign	Het
Sephs1	T	A	2: 4,898,105 (GRCm39)	L172Q	probably damaging	Het
Slc16a3	T	C	11: 120,847,223 (GRCm39)	L137P	probably damaging	Het
Slc22a4	T	C	11: 53,881,599 (GRCm39)	Y373C	probably damaging	Het
Snx1	T	C	9: 65,998,002 (GRCm39)	D410G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stam2	G	T	2: 52,606,582 (GRCm39)	A101D	probably damaging	Het
Surf4	A	G	2: 26,814,364 (GRCm39)	F179S	probably benign	Het
Taf8	C	T	17: 47,801,101 (GRCm39)	R294Q	unknown	Het
Tnr	A	G	1: 159,719,608 (GRCm39)	T962A	probably benign	Het
Tpx2	T	A	2: 152,711,618 (GRCm39)	I51K	possibly damaging	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,394,369 (GRCm39)	Y2305N		Het
Vil1	C	A	1: 74,469,833 (GRCm39)	Q740K	probably benign	Het
Vmn1r236	T	C	17: 21,507,286 (GRCm39)	F135L	possibly damaging	Het
Vmn1r57	A	C	7: 5,224,230 (GRCm39)	I252L	probably benign	Het
Vmn2r77	T	C	7: 86,460,741 (GRCm39)	L689P	probably benign	Het
Wdr1	A	G	5: 38,685,216 (GRCm39)	L585P	probably damaging	Het
Wdr6	T	C	9: 108,450,358 (GRCm39)	I1057V	probably benign	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
R5973:Or52e2	UTSW	7	102,804,081 (GRCm39)	missense	possibly damaging	0.93
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

Predicted Primers

PCR Primer
(F):5'- ATGGGGAATGATGTGATGCCC -3'
(R):5'- GCTCTCTTAGGAAACTTAACCATC -3'

Sequencing Primer
(F):5'- CCACAGAAGGGCAGTCTCAAAATTAG -3'
(R):5'- CTTGTTTGTGATCAAAACTGAGAGC -3'

Posted On

2022-10-06