Mutagenetix > Incidental Mutation

Incidental Mutation 'R1557:Or52e18'

170345

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

039596-MU

Accession Numbers

Essential gene?

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

Stock #

R1557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104608999-104609937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104609747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 64 (F64S)

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: F64S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060289
Gene: ENSMUSG00000044705
AA Change: F64S

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: F64S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (75/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	C	1: 53,221,025 (GRCm39)	D68E	possibly damaging	Het
Abca3	T	C	17: 24,618,954 (GRCm39)	V870A	possibly damaging	Het
Aldh3a2	A	T	11: 61,139,885 (GRCm39)	F416I	probably damaging	Het
Armc6	A	T	8: 70,678,098 (GRCm39)	L77Q	possibly damaging	Het
Asb17	A	G	3: 153,556,570 (GRCm39)	I226V	probably benign	Het
Aspm	A	G	1: 139,396,406 (GRCm39)	I862V	probably benign	Het
Atr	T	A	9: 95,753,502 (GRCm39)	D701E	probably damaging	Het
Baz1b	C	T	5: 135,247,097 (GRCm39)	L849F	possibly damaging	Het
Cbr1	T	C	16: 93,405,677 (GRCm39)	V97A	probably benign	Het
Cep295	G	A	9: 15,243,306 (GRCm39)	Q1669*	probably null	Het
Cfap54	T	C	10: 92,820,089 (GRCm39)	T1242A	possibly damaging	Het
Chrm3	T	A	13: 9,928,350 (GRCm39)	T229S	possibly damaging	Het
Cimip4	C	A	15: 78,270,474 (GRCm39)	R98M	probably damaging	Het
Cnga3	A	G	1: 37,300,066 (GRCm39)	Y300C	probably damaging	Het
Col14a1	A	C	15: 55,251,975 (GRCm39)	I544L	unknown	Het
Crocc	T	C	4: 140,752,776 (GRCm39)	E1208G	probably damaging	Het
Cyp2j8	A	T	4: 96,358,713 (GRCm39)		probably benign	Het
Dcbld2	T	C	16: 58,285,713 (GRCm39)	I624T	possibly damaging	Het
Ddah1	A	C	3: 145,597,227 (GRCm39)	I258L	probably benign	Het
Dnah6	G	A	6: 73,026,114 (GRCm39)	Q3460*	probably null	Het
Dync2h1	T	A	9: 7,140,911 (GRCm39)	D1372V	probably damaging	Het
Egln1	G	A	8: 125,674,980 (GRCm39)	R272*	probably null	Het
Elf1	A	G	14: 79,804,620 (GRCm39)	D95G	possibly damaging	Het
Fkbp5	A	G	17: 28,621,729 (GRCm39)	F374L	probably damaging	Het
Fli1	T	C	9: 32,372,540 (GRCm39)		probably benign	Het
Gabbr2	T	C	4: 46,846,436 (GRCm39)	T158A	probably damaging	Het
Gp2	A	C	7: 119,049,302 (GRCm39)	Y412D	probably damaging	Het
Hmcn1	A	G	1: 150,610,283 (GRCm39)	V1462A	possibly damaging	Het
Ide	T	C	19: 37,258,160 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,134,648 (GRCm39)	K372R	possibly damaging	Het
Kcnj16	A	G	11: 110,916,067 (GRCm39)	D243G	possibly damaging	Het
Kif7	A	G	7: 79,363,905 (GRCm39)	M1T	probably null	Het
Klri2	A	T	6: 129,709,174 (GRCm39)	L226Q	probably damaging	Het
Kremen1	T	C	11: 5,165,373 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,788 (GRCm39)		probably benign	Het
Lmln	C	A	16: 32,908,581 (GRCm39)	R336S	probably benign	Het
Lrch4	T	A	5: 137,635,818 (GRCm39)	D266E	probably benign	Het
Lrrc28	C	T	7: 67,209,677 (GRCm39)	R174H	probably damaging	Het
Mib1	T	A	18: 10,798,474 (GRCm39)	D778E	probably damaging	Het
Msra	T	C	14: 64,360,775 (GRCm39)	I125V	possibly damaging	Het
Or10c1	A	G	17: 37,522,244 (GRCm39)	F167L	probably damaging	Het
Or4k37	T	A	2: 111,158,964 (GRCm39)	S67T	probably damaging	Het
Or4p19	A	T	2: 88,242,555 (GRCm39)	V149E	possibly damaging	Het
Or6c75	C	A	10: 129,337,491 (GRCm39)	T246N	probably damaging	Het
Or8d23	A	G	9: 38,841,955 (GRCm39)	M163V	possibly damaging	Het
Pes1	T	A	11: 3,926,824 (GRCm39)	Y369N	probably damaging	Het
Pgam2	T	C	11: 5,751,773 (GRCm39)	D221G	possibly damaging	Het
Prl2c5	T	C	13: 13,365,265 (GRCm39)	V137A	possibly damaging	Het
Rasal1	T	A	5: 120,814,914 (GRCm39)	D721E	possibly damaging	Het
Sass6	G	T	3: 116,412,381 (GRCm39)	E385D	possibly damaging	Het
Sema5a	A	G	15: 32,460,418 (GRCm39)	R60G	probably benign	Het
Sesn1	T	C	10: 41,779,762 (GRCm39)	S399P	probably damaging	Het
Skic2	G	A	17: 35,067,398 (GRCm39)	L47F	probably damaging	Het
Slc10a2	C	T	8: 5,141,755 (GRCm39)	V210M	probably damaging	Het
Slc8a3	C	T	12: 81,362,331 (GRCm39)	G163S	probably damaging	Het
Sorbs2	T	C	8: 46,212,234 (GRCm39)		probably benign	Het
Speer4f1	T	C	5: 17,684,490 (GRCm39)	W173R	probably damaging	Het
Spon2	C	A	5: 33,374,108 (GRCm39)	G92W	probably damaging	Het
Sycp2	A	T	2: 178,037,009 (GRCm39)		probably benign	Het
Tfb1m	A	G	17: 3,605,241 (GRCm39)	V84A	probably damaging	Het
Tmem18	G	T	12: 30,637,198 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,210 (GRCm39)	L290S	possibly damaging	Het
Tube1	T	G	10: 39,021,711 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,156 (GRCm39)		probably null	Het
Unc93b1	T	A	19: 3,992,403 (GRCm39)	Y269N	probably benign	Het
Usp16	T	C	16: 87,259,030 (GRCm39)		probably null	Het
Vmn1r38	A	T	6: 66,753,370 (GRCm39)	S249T	probably benign	Het
Vmn1r42	T	A	6: 89,821,733 (GRCm39)	M279L	possibly damaging	Het
Zdhhc23	T	A	16: 43,791,829 (GRCm39)	T315S	possibly damaging	Het
Zfp472	T	C	17: 33,194,900 (GRCm39)	F12L	probably benign	Het
Zfr2	T	C	10: 81,083,225 (GRCm39)	S634P	probably benign	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
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

2014-04-13