Mutagenetix > Incidental Mutation

Incidental Mutation 'R8432:Or52e8'

653804

Institutional Source

Beutler Lab

Gene Symbol

Or52e8

Ensembl Gene

ENSMUSG00000094531

Gene Name

olfactory receptor family 52 subfamily E member 8

Synonyms

MOR32-12, Olfr671, GA_x6K02T2PBJ9-7604826-7603885

MMRRC Submission

067882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8432 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104621683-104625202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 104625199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 2 (T2P)

Ref Sequence

ENSEMBL: ENSMUSP00000148008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078710] [ENSMUST00000210963] [ENSMUST00000217091]

AlphaFold

A0A1B0GSN5

Predicted Effect

probably benign
Transcript: ENSMUST00000078710

SMART Domains

Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.4e-117	PFAM
Pfam:7TM_GPCR_Srsx	37	308	3.7e-7	PFAM
Pfam:7tm_1	43	293	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210963
AA Change: T2P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217091
AA Change: T2P

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	A	G	9: 122,197,317 (GRCm39)	Y168C	probably damaging	Het
Agbl1	A	C	7: 76,774,434 (GRCm39)	R1119S	unknown	Het
Agpat5	A	T	8: 18,896,777 (GRCm39)	N68Y	probably benign	Het
Ap4b1	G	A	3: 103,728,135 (GRCm39)	R551Q	probably benign	Het
Arhgef28	T	C	13: 98,088,091 (GRCm39)	I1122V	probably benign	Het
Arhgef40	T	A	14: 52,226,857 (GRCm39)	D300E	probably benign	Het
Atxn7	T	C	14: 14,013,635 (GRCm38)	V112A	probably benign	Het
AY358078	T	A	14: 52,059,635 (GRCm39)	L324H	unknown	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bnip5	C	T	17: 29,118,545 (GRCm39)	R629H	probably benign	Het
Cacng2	A	G	15: 77,897,522 (GRCm39)	Y96H	probably damaging	Het
Cd2ap	A	T	17: 43,109,484 (GRCm39)		probably null	Het
Cdh5	A	T	8: 104,839,698 (GRCm39)	E56D	probably damaging	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Cpne3	A	T	4: 19,535,227 (GRCm39)	S268R	probably benign	Het
Cubn	T	A	2: 13,386,610 (GRCm39)	I1552F	probably benign	Het
Dhrs7	G	A	12: 72,711,581 (GRCm39)		probably benign	Het
Dnah7a	G	C	1: 53,657,195 (GRCm39)	I860M	possibly damaging	Het
Dync1h1	A	T	12: 110,584,576 (GRCm39)	M660L	probably benign	Het
Ecd	T	A	14: 20,370,998 (GRCm39)	T574S	probably benign	Het
Efna5	A	G	17: 62,958,017 (GRCm39)	Y80H	probably damaging	Het
Ercc5	A	T	1: 44,206,841 (GRCm39)	K585*	probably null	Het
Erich4	A	G	7: 25,314,533 (GRCm39)	S127P	probably benign	Het
Gckr	A	T	5: 31,466,447 (GRCm39)	Q474L	possibly damaging	Het
Gid8	A	G	2: 180,356,654 (GRCm39)	N97S	probably benign	Het
Gm28042	G	T	2: 119,869,077 (GRCm39)	C557F	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Gzf1	A	G	2: 148,532,115 (GRCm39)	T581A	probably benign	Het
Heatr5b	A	T	17: 79,110,930 (GRCm39)	Y973N	probably damaging	Het
Herc2	A	G	7: 55,804,860 (GRCm39)	E2296G	probably benign	Het
Hydin	A	T	8: 111,324,583 (GRCm39)	N4648I	probably benign	Het
Mlip	A	T	9: 77,098,011 (GRCm39)	D157E	possibly damaging	Het
Mrpl19	A	G	6: 81,939,136 (GRCm39)	V222A	probably damaging	Het
Myo18b	A	G	5: 112,912,378 (GRCm39)	V1896A	probably benign	Het
Myo9a	G	A	9: 59,687,548 (GRCm39)	V218M	probably damaging	Het
Nepn	A	T	10: 52,267,880 (GRCm39)	T49S	probably benign	Het
Nsd1	T	G	13: 55,395,516 (GRCm39)	M1142R	possibly damaging	Het
Or8b40	A	G	9: 38,027,272 (GRCm39)	Y65C	probably damaging	Het
Otulinl	A	T	15: 27,664,818 (GRCm39)	M46K	possibly damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Pgm2l1	A	G	7: 99,909,260 (GRCm39)	D242G	possibly damaging	Het
Pkdrej	T	G	15: 85,701,494 (GRCm39)	I1481L	probably benign	Het
Prkag1	T	C	15: 98,713,425 (GRCm39)	I87V	possibly damaging	Het
Psma1	A	T	7: 113,873,080 (GRCm39)	I74N	probably damaging	Het
Rap1gds1	T	C	3: 138,647,548 (GRCm39)	S547G	probably damaging	Het
Rbm19	T	G	5: 120,313,991 (GRCm39)	F868V	probably damaging	Het
Riok1	T	C	13: 38,221,468 (GRCm39)	V11A	probably benign	Het
Smpd3	T	A	8: 106,984,309 (GRCm39)		probably null	Het
Taar3	A	T	10: 23,826,053 (GRCm39)	I200L	probably benign	Het
Taf12	A	G	4: 132,019,228 (GRCm39)	Y139C	probably damaging	Het
Taf15	AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG	AGAAGTGG	11: 83,395,851 (GRCm39)		probably benign	Het
Tc2n	A	T	12: 101,615,363 (GRCm39)	N487K	probably benign	Het
Tex15	A	C	8: 34,066,572 (GRCm39)	I2001L	probably damaging	Het
Tmem168	A	G	6: 13,602,535 (GRCm39)	F277S	probably benign	Het
Trim67	TGCCGCCGCCGCCGC	TGCCGCCGCCGC	8: 125,520,801 (GRCm39)		probably benign	Het
Tspan1	G	T	4: 116,021,151 (GRCm39)	Q116K	probably benign	Het
Ttc24	G	A	3: 87,977,366 (GRCm39)	R325C	probably benign	Het
Ttn	C	T	2: 76,693,900 (GRCm39)	E323K		Het
Xirp2	A	T	2: 67,340,962 (GRCm39)	M1068L	probably benign	Het
Zbtb38	A	C	9: 96,568,291 (GRCm39)	M931R	possibly damaging	Het
Zfp931	A	G	2: 177,711,346 (GRCm39)	*65Q	probably null	Het

Other mutations in Or52e8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Or52e8	APN	7	104,625,193 (GRCm39)	splice site	probably null
IGL02154:Or52e8	APN	7	104,625,188 (GRCm39)	start codon destroyed	probably null	0.14
IGL02308:Or52e8	APN	7	104,624,665 (GRCm39)	missense	possibly damaging	0.84
IGL02794:Or52e8	APN	7	104,624,596 (GRCm39)	missense	probably benign
R0919:Or52e8	UTSW	7	104,624,519 (GRCm39)	nonsense	probably null
R1819:Or52e8	UTSW	7	104,624,605 (GRCm39)	missense	probably benign	0.01
R1972:Or52e8	UTSW	7	104,625,106 (GRCm39)	missense	possibly damaging	0.63
R2025:Or52e8	UTSW	7	104,624,451 (GRCm39)	missense	probably benign	0.01
R4910:Or52e8	UTSW	7	104,624,686 (GRCm39)	missense	possibly damaging	0.88
R5442:Or52e8	UTSW	7	104,624,435 (GRCm39)	missense	possibly damaging	0.80
R5554:Or52e8	UTSW	7	104,625,189 (GRCm39)	start codon destroyed	probably null	0.99
R5932:Or52e8	UTSW	7	104,624,862 (GRCm39)	missense	probably damaging	1.00
R6683:Or52e8	UTSW	7	104,625,175 (GRCm39)	missense	probably benign
R6962:Or52e8	UTSW	7	104,624,580 (GRCm39)	missense	probably benign	0.00
R7000:Or52e8	UTSW	7	104,624,338 (GRCm39)	missense	probably damaging	1.00
R7059:Or52e8	UTSW	7	104,625,224 (GRCm39)	splice site	probably null
R7276:Or52e8	UTSW	7	104,624,857 (GRCm39)	missense	possibly damaging	0.62
R7425:Or52e8	UTSW	7	104,624,268 (GRCm39)	nonsense	probably null
R7688:Or52e8	UTSW	7	104,624,332 (GRCm39)	missense	possibly damaging	0.60
R8043:Or52e8	UTSW	7	104,625,080 (GRCm39)	nonsense	probably null
R8074:Or52e8	UTSW	7	104,624,934 (GRCm39)	missense	probably damaging	1.00
R8705:Or52e8	UTSW	7	104,624,446 (GRCm39)	missense	possibly damaging	0.95
R8757:Or52e8	UTSW	7	104,624,325 (GRCm39)	missense	probably damaging	1.00
R8759:Or52e8	UTSW	7	104,624,325 (GRCm39)	missense	probably damaging	1.00
R9489:Or52e8	UTSW	7	104,624,856 (GRCm39)	missense	probably damaging	1.00
R9597:Or52e8	UTSW	7	104,624,413 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AGACTGTGTTCAGCTTGGATC -3'
(R):5'- AGTGCACTAATGGTGGCTCG -3'

Sequencing Primer
(F):5'- TCAGCTTGGATCACAAATAAAACAG -3'
(R):5'- CACTAATGGTGGCTCGATACCTG -3'

Posted On

2020-10-20