Mutagenetix > Incidental Mutation

Incidental Mutation 'R8757:Or52e8'

671690

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

068621-MU

Accession Numbers

Essential gene?

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

Stock #

R8757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104621683-104625202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104624325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 293 (N293S)

Ref Sequence

ENSEMBL: ENSMUSP00000148008 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000078710
AA Change: N289S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531
AA Change: N289S

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 damaging
Transcript: ENSMUST00000210963
AA Change: N293S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217091
AA Change: N293S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,697,112 (GRCm39)	V237A	probably benign	Het
Abca15	G	A	7: 120,006,631 (GRCm39)	V1632M	probably damaging	Het
Adam20	A	T	8: 41,248,943 (GRCm39)	H351L	probably benign	Het
Ak9	T	C	10: 41,299,036 (GRCm39)	V1579A	unknown	Het
Apol7e	T	C	15: 77,602,065 (GRCm39)	V221A	probably benign	Het
Arid5b	T	C	10: 67,933,640 (GRCm39)	H754R	probably damaging	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm39)	R80S	probably benign	Het
Cers3	G	A	7: 66,435,850 (GRCm39)	V270M	probably damaging	Het
Ces3a	A	G	8: 105,784,129 (GRCm39)	H443R	probably damaging	Het
Cnot7	A	G	8: 40,947,080 (GRCm39)	V269A	probably benign	Het
Cntn1	T	G	15: 92,153,801 (GRCm39)	F485V	possibly damaging	Het
Copa	A	G	1: 171,947,081 (GRCm39)	I1068M	probably benign	Het
Dchs2	G	A	3: 83,261,567 (GRCm39)	V2612M	possibly damaging	Het
Dgkz	T	C	2: 91,775,922 (GRCm39)	T114A	probably benign	Het
Dock2	A	T	11: 34,586,067 (GRCm39)	D538E	probably benign	Het
Epn3	C	A	11: 94,386,848 (GRCm39)	G174V	possibly damaging	Het
Evx2	C	T	2: 74,486,226 (GRCm39)	A388T	probably benign	Het
Fancd2	T	C	6: 113,537,054 (GRCm39)	M553T	possibly damaging	Het
Ficd	G	T	5: 113,876,575 (GRCm39)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,708,005 (GRCm39)	S377P	probably benign	Het
Gm19410	A	T	8: 36,276,119 (GRCm39)	Q1592L	possibly damaging	Het
Gm4792	T	A	10: 94,131,049 (GRCm39)	T87S	unknown	Het
Gm8947	C	A	1: 151,068,809 (GRCm39)	T214K	probably benign	Het
H6pd	C	T	4: 150,066,758 (GRCm39)	V551I	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Heyl	C	T	4: 123,127,666 (GRCm39)	R3W	probably damaging	Het
Htr4	T	A	18: 62,545,335 (GRCm39)	V40E	probably damaging	Het
Ighg1	A	T	12: 113,292,657 (GRCm39)	L304*	probably null	Het
Igkv1-135	T	A	6: 67,587,470 (GRCm39)	W114R	possibly damaging	Het
Itga8	T	C	2: 12,266,940 (GRCm39)	D165G	probably damaging	Het
Kmt2a	A	T	9: 44,754,210 (GRCm39)	V1210E	unknown	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Lrrc37a	A	G	11: 103,348,766 (GRCm39)	V2643A	unknown	Het
Map4k5	A	G	12: 69,897,598 (GRCm39)		probably benign	Het
Mecom	A	T	3: 30,292,268 (GRCm39)	D14E		Het
Myo3a	G	T	2: 22,448,319 (GRCm39)	K969N	possibly damaging	Het
Nat3	T	C	8: 68,000,202 (GRCm39)	I27T	probably damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Nr2c1	T	C	10: 94,031,119 (GRCm39)	L560P	probably damaging	Het
Pik3cg	T	C	12: 32,255,006 (GRCm39)	D327G	probably damaging	Het
Ppihl	A	T	5: 44,070,999 (GRCm39)	N119I	probably benign	Het
Ppp1r13l	G	T	7: 19,103,981 (GRCm39)	G154V	probably damaging	Het
Psmc5	A	G	11: 106,153,687 (GRCm39)	D382G	probably benign	Het
Ptprz1	C	A	6: 22,972,716 (GRCm39)	Q209K	possibly damaging	Het
Rev1	A	C	1: 38,098,353 (GRCm39)	L730R	probably damaging	Het
Rin3	G	A	12: 102,339,861 (GRCm39)	V684I	probably damaging	Het
Ror1	T	A	4: 100,298,080 (GRCm39)	F484L	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,497,134 (GRCm39)	C136Y	probably damaging	Het
Sf3a2	T	A	10: 80,640,138 (GRCm39)	H316Q	unknown	Het
Slc18b1	T	C	10: 23,692,198 (GRCm39)		silent	Het
Sp100	T	C	1: 85,590,285 (GRCm39)	V93A	possibly damaging	Het
Spta1	C	T	1: 174,040,940 (GRCm39)	L1247F	probably damaging	Het
Syne1	T	A	10: 5,144,618 (GRCm39)	N21I	probably damaging	Het
Tbck	G	T	3: 132,392,587 (GRCm39)	M9I	probably benign	Het
Tln2	T	C	9: 67,274,500 (GRCm39)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,398,633 (GRCm39)		probably benign	Het
Ttf2	A	G	3: 100,857,648 (GRCm39)	L759P	probably damaging	Het
Ubqlnl	T	A	7: 103,799,206 (GRCm39)	H97L	probably damaging	Het
Zfp800	T	C	6: 28,244,270 (GRCm39)	I232V	probably benign	Het
Zfp831	A	G	2: 174,487,874 (GRCm39)	T850A	probably benign	Het
Zpld2	T	C	4: 133,930,282 (GRCm39)	T8A	unknown	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
R8432:Or52e8	UTSW	7	104,625,199 (GRCm39)	missense	probably benign
R8705:Or52e8	UTSW	7	104,624,446 (GRCm39)	missense	possibly damaging	0.95
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'- ACAGTAAGTTTGTCTCTTTCCCAG -3'
(R):5'- CAACATCATGTTTGGTCTTAGCAAC -3'

Sequencing Primer
(F):5'- CCCAGTTTTCTATGGACTAGACAC -3'
(R):5'- CTATGTCAGGATCCTCTATGCAGTG -3'

Posted On

2021-04-30