Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Or52e18'

537214

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

044985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104608999-104609937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104609192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 249 (I249T)

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: I249T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060289
Gene: ENSMUSG00000044705
AA Change: I249T

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: I249T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.1625

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agbl5	G	T	5: 31,052,522 (GRCm39)	R61L	probably damaging	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Btn2a2	T	C	13: 23,667,014 (GRCm39)	D197G	probably benign	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Eral1	C	T	11: 77,966,559 (GRCm39)	V234I	possibly damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Gzf1	A	T	2: 148,526,689 (GRCm39)	K387*	probably null	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kcna4	C	T	2: 107,126,652 (GRCm39)	S462F	probably damaging	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Ltf	T	C	9: 110,854,181 (GRCm39)	V332A	probably benign	Het
Mapkap1	T	C	2: 34,453,153 (GRCm39)	F349L	probably damaging	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or2g1	A	G	17: 38,106,395 (GRCm39)	Q20R	probably benign	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	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
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
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'- CATCTCTCTGAAATGGCTTATGTC -3'
(R):5'- ACACATGGGGATTGCTCGTC -3'

Sequencing Primer
(F):5'- TCTTCCAAAAGATGCTTAAAACCTG -3'
(R):5'- GGATTGCTCGTCTGGCC -3'

Posted On

2018-10-18