Mutagenetix > Incidental Mutation

Incidental Mutation 'R7095:Or52e2'

550421

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

045243-MU

Accession Numbers

Essential gene?

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

Stock #

R7095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102803999-102804952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102804537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 139 (T139I)

Ref Sequence

ENSEMBL: ENSMUSP00000151739 (fasta)

Gene Model

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

AlphaFold

Q8VGV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000061055
AA Change: T139I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060166
Gene: ENSMUSG00000051362
AA Change: T139I

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 damaging
Transcript: ENSMUST00000218483
AA Change: T139I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6485

Coding Region Coverage

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

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,268,403 (GRCm39)	V809A	possibly damaging	Het
Adam32	T	A	8: 25,404,086 (GRCm39)	D242V	probably damaging	Het
Adamts9	T	A	6: 92,864,672 (GRCm39)	H763L	probably benign	Het
Aff1	A	G	5: 103,990,951 (GRCm39)	D967G	probably damaging	Het
Anpep	A	T	7: 79,491,950 (GRCm39)	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,125,553 (GRCm39)	S28*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bod1l	A	G	5: 41,952,411 (GRCm39)		probably null	Het
Capn5	G	A	7: 97,775,038 (GRCm39)	T534I	probably benign	Het
Cbx2	T	C	11: 118,918,885 (GRCm39)	I150T	probably damaging	Het
Cdh11	A	G	8: 103,384,899 (GRCm39)	V392A	probably damaging	Het
Cenpf	A	T	1: 189,391,373 (GRCm39)	C803S	probably benign	Het
Cep135	A	G	5: 76,741,905 (GRCm39)	T114A	probably benign	Het
Chd2	A	T	7: 73,121,629 (GRCm39)	D994E	probably damaging	Het
Chtf18	C	A	17: 25,941,652 (GRCm39)	W584C	probably damaging	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dgkh	C	A	14: 78,865,224 (GRCm39)	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,607,110 (GRCm39)	H117P	probably benign	Het
Dzip3	A	T	16: 48,748,153 (GRCm39)	N908K	probably benign	Het
Erc2	A	T	14: 27,620,550 (GRCm39)	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,132,786 (GRCm39)	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,615,378 (GRCm39)	L816F	probably damaging	Het
Fat2	A	G	11: 55,202,157 (GRCm39)	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,779,574 (GRCm39)	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,805,824 (GRCm39)		probably benign	Het
Gsk3a	A	T	7: 24,933,279 (GRCm39)	Y177N	probably damaging	Het
Haus5	T	C	7: 30,358,997 (GRCm39)	T222A	probably benign	Het
Igfbp7	G	T	5: 77,549,337 (GRCm39)	Q189K	probably benign	Het
Inppl1	A	T	7: 101,476,663 (GRCm39)	Y771*	probably null	Het
Iqck	A	T	7: 118,514,814 (GRCm39)	Y234F	probably damaging	Het
Irs1	G	T	1: 82,267,819 (GRCm39)	C132*	probably null	Het
Jmjd1c	T	G	10: 67,055,411 (GRCm39)	V277G	probably benign	Het
Klhl22	G	A	16: 17,610,614 (GRCm39)	V622M	probably damaging	Het
Kri1	C	T	9: 21,190,728 (GRCm39)	E378K		Het
Lilra6	C	T	7: 3,916,196 (GRCm39)	G221D	probably damaging	Het
Mecom	T	C	3: 30,035,103 (GRCm39)	E191G	probably damaging	Het
Mgrn1	T	A	16: 4,745,528 (GRCm39)		probably null	Het
Mical1	C	T	10: 41,355,206 (GRCm39)		probably null	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,301,260 (GRCm39)	H535L		Het
Mtarc1	A	G	1: 184,527,437 (GRCm39)	L297P	probably damaging	Het
Mtfr2	C	A	10: 20,228,666 (GRCm39)	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,992,272 (GRCm39)	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,067,635 (GRCm39)	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,063,792 (GRCm39)	A67T	probably damaging	Het
Noc3l	T	A	19: 38,800,789 (GRCm39)	H231L	probably benign	Het
Odf1	T	C	15: 38,219,803 (GRCm39)	Y44H	possibly damaging	Het
Or52s1b	C	T	7: 102,822,253 (GRCm39)	R197H	probably benign	Het
Or5j3	C	T	2: 86,129,021 (GRCm39)	P287L	probably benign	Het
Otol1	G	T	3: 69,926,027 (GRCm39)	E67D	probably benign	Het
Otud7b	A	G	3: 96,062,554 (GRCm39)	S598G	probably benign	Het
Ppwd1	T	A	13: 104,342,134 (GRCm39)	T607S	probably benign	Het
Prag1	A	G	8: 36,569,714 (GRCm39)	N99S	probably benign	Het
Ralgds	C	A	2: 28,439,320 (GRCm39)	Q737K	possibly damaging	Het
Scyl2	T	C	10: 89,505,549 (GRCm39)	H98R	probably damaging	Het
Secisbp2	A	C	13: 51,831,290 (GRCm39)	Q575H	probably benign	Het
Slc9a5	A	T	8: 106,084,268 (GRCm39)	H497L	probably benign	Het
Sufu	T	A	19: 46,464,027 (GRCm39)	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,818,843 (GRCm39)	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,576,196 (GRCm39)	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,734,368 (GRCm39)	S348P	probably benign	Het
Tmem219	A	T	7: 126,490,928 (GRCm39)	F176L	probably damaging	Het
Trav6-2	A	G	14: 52,905,291 (GRCm39)	D104G	probably damaging	Het
Uba7	A	G	9: 107,860,538 (GRCm39)	K927R	probably benign	Het
Vps54	T	G	11: 21,221,720 (GRCm39)	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,000,196 (GRCm39)		probably null	Het
Xpo7	G	A	14: 70,942,146 (GRCm39)	R73W	probably damaging	Het
Zfp532	A	T	18: 65,815,969 (GRCm39)	M781L	probably benign	Het
Zfp930	T	A	8: 69,681,193 (GRCm39)	I295K	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
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'- ACATTGGCCTTGACACTTGC -3'
(R):5'- TGGCTATGTTGGCTACCATTGAC -3'

Sequencing Primer
(F):5'- ATTGGCCTTGACACTTGCACAAG -3'
(R):5'- ATTGACTTGGGCCTCTCAACAG -3'

Posted On

2019-05-15