Mutagenetix > Incidental Mutation

Incidental Mutation 'R6006:Or52e18'

479481

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

044183-MU

Accession Numbers

Essential gene?

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

Stock #

R6006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104608999-104609937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 104609870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 23 (E23A)

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: E23A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060289
Gene: ENSMUSG00000044705
AA Change: E23A

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: E23A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.3%

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
Abcb10	A	G	8: 124,694,804 (GRCm39)	I296T	probably benign	Het
Abcb4	C	A	5: 8,996,026 (GRCm39)	T894K	probably damaging	Het
Acad12	C	T	5: 121,737,299 (GRCm39)	V491I	possibly damaging	Het
Actr8	T	A	14: 29,706,099 (GRCm39)		probably null	Het
Adam7	A	C	14: 68,748,845 (GRCm39)	D467E	probably damaging	Het
Adamts18	A	T	8: 114,433,606 (GRCm39)	C1043S	probably damaging	Het
Adgrb3	T	G	1: 25,865,612 (GRCm39)	D77A	possibly damaging	Het
Arhgap20	T	A	9: 51,761,426 (GRCm39)	D1056E	probably benign	Het
Bco1	A	G	8: 117,840,330 (GRCm39)		probably null	Het
Btn2a2	A	T	13: 23,670,533 (GRCm39)	W67R	probably damaging	Het
Camkmt	A	T	17: 85,759,666 (GRCm39)	N269Y	possibly damaging	Het
Cand1	A	G	10: 119,045,933 (GRCm39)	F991L	possibly damaging	Het
Cchcr1	A	G	17: 35,835,597 (GRCm39)	K234E	possibly damaging	Het
Cd14	T	C	18: 36,859,335 (GRCm39)	D40G	possibly damaging	Het
Cdc73	A	T	1: 143,493,177 (GRCm39)	F386I	probably damaging	Het
Cdk14	C	T	5: 5,299,211 (GRCm39)	M1I	probably null	Het
Cnpy3	A	C	17: 47,047,790 (GRCm39)	S220A	probably benign	Het
Col22a1	A	G	15: 71,845,685 (GRCm39)	V359A	probably damaging	Het
Col6a3	C	A	1: 90,696,105 (GRCm39)	C2654F	unknown	Het
Colgalt2	A	G	1: 152,348,912 (GRCm39)	T186A	probably damaging	Het
Cpsf4l	A	G	11: 113,590,753 (GRCm39)	V199A	probably benign	Het
Dhtkd1	G	A	2: 5,908,836 (GRCm39)	Q753*	probably null	Het
Ep400	A	G	5: 110,852,825 (GRCm39)	S1307P	unknown	Het
Fer1l6	T	C	15: 58,518,893 (GRCm39)	V1675A	probably damaging	Het
Glis1	T	C	4: 107,425,103 (GRCm39)	L238P	probably damaging	Het
Ift70a1	A	G	2: 75,811,832 (GRCm39)	Y84H	probably benign	Het
Iqgap3	T	A	3: 87,998,854 (GRCm39)	D318E	probably damaging	Het
Lats1	T	C	10: 7,581,359 (GRCm39)	F715L	probably damaging	Het
Mlxip	T	C	5: 123,583,721 (GRCm39)	F428S	possibly damaging	Het
Morc3	T	G	16: 93,663,381 (GRCm39)	I528R	possibly damaging	Het
Mtx1	C	T	3: 89,117,613 (GRCm39)	G60D	probably damaging	Het
Mug2	G	C	6: 122,060,459 (GRCm39)	Q1398H	probably null	Het
Mup8	T	C	4: 60,220,403 (GRCm39)	I110V	probably benign	Het
Nfkb1	A	T	3: 135,309,522 (GRCm39)	L12*	probably null	Het
Numa1	G	A	7: 101,641,926 (GRCm39)		probably null	Het
Pbk	C	T	14: 66,054,094 (GRCm39)	P213L	probably damaging	Het
Pdcd1lg2	T	A	19: 29,431,905 (GRCm39)	H224Q	possibly damaging	Het
Pkp1	C	G	1: 135,805,406 (GRCm39)		probably null	Het
Rela	A	G	19: 5,689,967 (GRCm39)	N139S	probably damaging	Het
Rgs3	G	A	4: 62,542,143 (GRCm39)	R39Q	probably damaging	Het
S1pr3	A	G	13: 51,573,731 (GRCm39)	E304G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Setmar	T	C	6: 108,053,387 (GRCm39)	S294P	possibly damaging	Het
Smc2	A	G	4: 52,459,024 (GRCm39)	N473S	probably benign	Het
Ssr1	TCTCTTTC	T	13: 38,169,972 (GRCm39)		probably null	Het
Tigd2	A	G	6: 59,187,762 (GRCm39)	I210V	possibly damaging	Het
Tmprss9	T	A	10: 80,719,555 (GRCm39)	F93L	possibly damaging	Het
U2surp	T	C	9: 95,361,360 (GRCm39)	Y633C	probably damaging	Het
Usp18	A	T	6: 121,239,781 (GRCm39)	E292V	possibly damaging	Het
Usp32	A	C	11: 84,883,277 (GRCm39)		probably null	Het
Utp18	T	C	11: 93,776,449 (GRCm39)	D12G	probably benign	Het
Vmn1r216	C	A	13: 23,283,928 (GRCm39)	H204N	probably benign	Het
Wdr97	T	C	15: 76,241,372 (GRCm39)	V626A	probably damaging	Het
Wwc1	A	T	11: 35,761,809 (GRCm39)	V619E	probably null	Het
Wwc1	T	C	11: 35,780,100 (GRCm39)	D285G	probably damaging	Het
Zfp3	A	T	11: 70,662,590 (GRCm39)	Q183L	probably benign	Het
Zfp955a	A	G	17: 33,460,660 (GRCm39)	C491R	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
R1493:Or52e18	UTSW	7	104,609,709 (GRCm39)	missense	probably damaging	0.97
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
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'- ACATCTGGGTCACACATCCC -3'
(R):5'- AGGGCCTTTATCATAATAGGTGTG -3'

Sequencing Primer
(F):5'- GCCCAGCATCTTGGGAATTG -3'
(R):5'- ATCATAATAGGTGTGTTTGTGTGC -3'

Posted On

2017-06-26