Mutagenetix > Incidental Mutation

Incidental Mutation 'R1493:Or52e18'

165548

Institutional Source

Beutler Lab

Gene Symbol

Or52e18

Ensembl Gene

ENSMUSG00000044705

Gene Name

olfactory receptor family 52 subfamily E member 18

Synonyms

Olfr670, MOR32-8, GA_x6K02T2PBJ9-7589577-7588639

MMRRC Submission

039544-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1493 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104608999-104609937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104609709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 77 (T77S)

Ref Sequence

ENSEMBL: ENSMUSP00000151138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050482] [ENSMUST00000214216]

AlphaFold

Q7TRP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000050482
AA Change: T77S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060289
Gene: ENSMUSG00000044705
AA Change: T77S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	3.7e-121	PFAM
Pfam:7TM_GPCR_Srsx	37	211	4.5e-7	PFAM
Pfam:7tm_1	43	293	3.9e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214216
AA Change: T77S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Abca15	A	T	7: 119,981,513 (GRCm39)	D989V	probably benign	Het
Abcg8	T	C	17: 85,004,107 (GRCm39)	S472P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
Adprm	A	G	11: 66,932,702 (GRCm39)	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,307,790 (GRCm39)	S343L	probably benign	Het
Arfgef3	A	G	10: 18,506,627 (GRCm39)	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,798 (GRCm39)	E339D	probably benign	Het
Axdnd1	T	A	1: 156,174,271 (GRCm39)	M799L	probably benign	Het
Cars2	A	T	8: 11,567,817 (GRCm39)		probably null	Het
Cd7	T	C	11: 120,928,967 (GRCm39)	T95A	probably damaging	Het
Cep290	A	T	10: 100,398,043 (GRCm39)	T2200S	probably benign	Het
Cep44	A	G	8: 56,985,870 (GRCm39)	S299P	probably damaging	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Ehbp1	T	A	11: 21,956,866 (GRCm39)	E1204V	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm4559	A	T	7: 141,828,050 (GRCm39)	C17*	probably null	Het
Helz	A	G	11: 107,504,751 (GRCm39)	I413V	probably benign	Het
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Hrh1	G	A	6: 114,457,838 (GRCm39)	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,708,870 (GRCm39)	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,504,641 (GRCm39)	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,758,202 (GRCm39)	S1124R	probably damaging	Het
Map3k5	A	G	10: 19,904,859 (GRCm39)	D387G	probably damaging	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Musk	C	T	4: 58,354,003 (GRCm39)	A352V	probably benign	Het
Myef2l	A	G	3: 10,153,944 (GRCm39)	K238E	probably damaging	Het
Nans	G	A	4: 46,500,761 (GRCm39)	E218K	probably damaging	Het
Niban1	T	A	1: 151,581,841 (GRCm39)	V479D	probably damaging	Het
Ninl	T	G	2: 150,822,015 (GRCm39)	D29A	probably damaging	Het
Nod1	A	G	6: 54,921,041 (GRCm39)	F426L	probably damaging	Het
Notch4	T	A	17: 34,786,656 (GRCm39)	C265*	probably null	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or51h1	T	C	7: 102,308,220 (GRCm39)	L64P	probably damaging	Het
Orai3	G	A	7: 127,373,077 (GRCm39)	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,711,551 (GRCm39)	Y271C	probably benign	Het
Rfc4	T	C	16: 22,936,758 (GRCm39)	I116V	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Rnmt	G	A	18: 68,446,778 (GRCm39)	D268N	probably damaging	Het
Rsph1	C	T	17: 31,484,873 (GRCm39)	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sgo2b	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Shmt2	A	G	10: 127,354,812 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,430,076 (GRCm39)	T353A	possibly damaging	Het
Stk25	T	C	1: 93,553,322 (GRCm39)	T260A	probably benign	Het
Tasor	A	G	14: 27,171,926 (GRCm39)	S425G	probably damaging	Het
Thap12	A	G	7: 98,364,645 (GRCm39)	H271R	probably benign	Het
Tmprss13	A	G	9: 45,247,405 (GRCm39)	T256A	probably benign	Het
Tpo	A	T	12: 30,181,808 (GRCm39)	I29N	possibly damaging	Het
Trpc2	A	T	7: 101,739,783 (GRCm39)	N569I	probably damaging	Het
Unc13c	T	C	9: 73,546,350 (GRCm39)	T1607A	probably benign	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Vps18	A	G	2: 119,127,613 (GRCm39)	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,204,866 (GRCm39)	I409F	probably damaging	Het
Zfp735	G	A	11: 73,601,305 (GRCm39)	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,246,809 (GRCm39)	S88P	probably damaging	Het

Other mutations in Or52e18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Or52e18	APN	7	104,609,923 (GRCm39)	missense	probably damaging	0.96
IGL01100:Or52e18	APN	7	104,609,202 (GRCm39)	missense	probably benign	0.07
IGL01351:Or52e18	APN	7	104,609,946 (GRCm39)	start gained	probably benign
IGL01478:Or52e18	APN	7	104,609,555 (GRCm39)	missense	probably damaging	0.97
IGL01835:Or52e18	APN	7	104,609,669 (GRCm39)	missense	probably benign	0.01
IGL02326:Or52e18	APN	7	104,609,853 (GRCm39)	missense	probably benign	0.12
IGL02434:Or52e18	APN	7	104,609,281 (GRCm39)	nonsense	probably null
IGL02434:Or52e18	APN	7	104,609,279 (GRCm39)	missense	probably benign	0.05
IGL02968:Or52e18	APN	7	104,609,451 (GRCm39)	missense	possibly damaging	0.90
R0055:Or52e18	UTSW	7	104,609,703 (GRCm39)	missense	possibly damaging	0.46
R0055:Or52e18	UTSW	7	104,609,703 (GRCm39)	missense	possibly damaging	0.46
R0345:Or52e18	UTSW	7	104,609,388 (GRCm39)	missense	probably damaging	1.00
R0401:Or52e18	UTSW	7	104,609,150 (GRCm39)	missense	probably damaging	1.00
R0646:Or52e18	UTSW	7	104,609,018 (GRCm39)	missense	probably benign	0.02
R1532:Or52e18	UTSW	7	104,609,472 (GRCm39)	missense	probably benign
R1557:Or52e18	UTSW	7	104,609,747 (GRCm39)	missense	probably damaging	0.99
R4072:Or52e18	UTSW	7	104,609,923 (GRCm39)	missense	probably damaging	0.96
R4074:Or52e18	UTSW	7	104,609,923 (GRCm39)	missense	probably damaging	0.96
R4075:Or52e18	UTSW	7	104,609,923 (GRCm39)	missense	probably damaging	0.96
R4076:Or52e18	UTSW	7	104,609,923 (GRCm39)	missense	probably damaging	0.96
R4229:Or52e18	UTSW	7	104,609,801 (GRCm39)	missense	probably benign	0.18
R4230:Or52e18	UTSW	7	104,609,801 (GRCm39)	missense	probably benign	0.18
R5374:Or52e18	UTSW	7	104,609,203 (GRCm39)	missense	probably damaging	1.00
R6006:Or52e18	UTSW	7	104,609,870 (GRCm39)	missense	probably damaging	0.99
R6891:Or52e18	UTSW	7	104,609,192 (GRCm39)	missense	probably damaging	1.00
R7465:Or52e18	UTSW	7	104,609,124 (GRCm39)	missense	probably benign	0.23
R8105:Or52e18	UTSW	7	104,609,629 (GRCm39)	missense	probably benign	0.15
R8117:Or52e18	UTSW	7	104,609,356 (GRCm39)	missense	probably damaging	1.00
R8356:Or52e18	UTSW	7	104,609,934 (GRCm39)	missense	probably benign	0.00
R8510:Or52e18	UTSW	7	104,609,321 (GRCm39)	nonsense	probably null
R9145:Or52e18	UTSW	7	104,609,204 (GRCm39)	missense	probably damaging	1.00
R9168:Or52e18	UTSW	7	104,609,001 (GRCm39)	makesense	probably null
R9234:Or52e18	UTSW	7	104,609,651 (GRCm39)	missense	probably damaging	1.00
R9706:Or52e18	UTSW	7	104,609,195 (GRCm39)	missense	probably damaging	0.99
R9789:Or52e18	UTSW	7	104,609,657 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTGAGAATCTGACTGTACCGCAGAG -3'
(R):5'- AGTTCAAATGGAACTGAATTCCACCCC -3'

Sequencing Primer
(F):5'- CTGACTGTACCGCAGAGGATTG -3'
(R):5'- GAACTGAATTCCACCCCTCTTTTTTC -3'

Posted On

2014-03-28