Mutagenetix > Incidental Mutation

Incidental Mutation 'R0055:Or52e18'

58969

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

038349-MU

Accession Numbers

Essential gene?

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

Stock #

R0055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104608999-104609937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104609703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 79 (T79S)

Ref Sequence

ENSEMBL: ENSMUSP00000151138 (fasta)

Gene Model

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

AlphaFold

Q7TRP3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050482
AA Change: T79S

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060289
Gene: ENSMUSG00000044705
AA Change: T79S

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

possibly damaging
Transcript: ENSMUST00000214216
AA Change: T79S

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.3204

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (59/60)

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
A2ml1	T	C	6: 128,547,057 (GRCm39)		probably benign	Het
Atp6v1h	A	T	1: 5,154,677 (GRCm39)	T2S	probably benign	Het
Bcl11b	G	A	12: 107,932,036 (GRCm39)	P179S	probably benign	Het
Cacna1a	C	T	8: 85,306,687 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,502,004 (GRCm39)		probably null	Het
Ccdc61	T	C	7: 18,626,461 (GRCm39)	D128G	probably damaging	Het
Cd55	A	G	1: 130,387,313 (GRCm39)		probably benign	Het
Cdk7	C	A	13: 100,855,812 (GRCm39)	E99*	probably null	Het
Cfap96	A	T	8: 46,421,198 (GRCm39)	S108R	probably damaging	Het
Cox8a	A	T	19: 7,194,874 (GRCm39)	S2T	probably damaging	Het
Cracdl	A	C	1: 37,663,337 (GRCm39)	S854A	probably benign	Het
Dennd5a	A	G	7: 109,498,998 (GRCm39)	I955T	possibly damaging	Het
Dop1a	A	C	9: 86,394,705 (GRCm39)	E602A	probably benign	Het
Ephx4	T	C	5: 107,560,944 (GRCm39)	L32S	probably damaging	Het
Fbxo21	T	A	5: 118,138,555 (GRCm39)	D493E	probably benign	Het
Frmd4b	A	T	6: 97,300,610 (GRCm39)		probably benign	Het
Fzd1	A	T	5: 4,806,037 (GRCm39)	M515K	possibly damaging	Het
Gli2	A	G	1: 118,818,138 (GRCm39)		probably benign	Het
Gm12887	T	A	4: 121,473,666 (GRCm39)	K61N	probably damaging	Het
Grin2a	A	T	16: 9,487,671 (GRCm39)	V409D	probably damaging	Het
Grin2b	T	C	6: 135,900,201 (GRCm39)	I227V	probably benign	Het
Helz2	T	G	2: 180,870,614 (GRCm39)	D2879A	possibly damaging	Het
Itpr2	T	C	6: 146,224,631 (GRCm39)	N1453S	probably benign	Het
Itpr3	C	A	17: 27,317,296 (GRCm39)	S817Y	probably damaging	Het
Lin7c	T	A	2: 109,726,798 (GRCm39)		probably benign	Het
Ly75	T	C	2: 60,152,262 (GRCm39)	E1097G	probably benign	Het
Mcm10	T	C	2: 4,996,218 (GRCm39)	N882D	probably damaging	Het
Mettl13	A	T	1: 162,373,750 (GRCm39)	L167Q	probably damaging	Het
Morn2	A	T	17: 80,602,942 (GRCm39)	M1L	probably benign	Het
Mybph	G	T	1: 134,121,590 (GRCm39)	V88L	probably damaging	Het
Nefm	T	A	14: 68,358,648 (GRCm39)		probably benign	Het
Nf1	A	G	11: 79,362,377 (GRCm39)	E1497G	probably damaging	Het
Or2j3	T	C	17: 38,615,702 (GRCm39)	S217G	possibly damaging	Het
Or4k37	T	A	2: 111,158,870 (GRCm39)	Y35*	probably null	Het
Or51ah3	A	G	7: 103,210,244 (GRCm39)	K187E	probably damaging	Het
Phf8-ps	A	T	17: 33,285,696 (GRCm39)	W369R	probably damaging	Het
Plcd3	C	G	11: 102,968,411 (GRCm39)	W382S	probably damaging	Het
Plxna1	T	A	6: 89,306,721 (GRCm39)	I1370F	possibly damaging	Het
Qng1	T	C	13: 58,531,980 (GRCm39)	D192G	probably damaging	Het
Rarb	G	A	14: 16,509,066 (GRCm38)	R106C	probably damaging	Het
Rps6ka5	G	A	12: 100,644,839 (GRCm39)	T37I	probably damaging	Het
Runx1	G	T	16: 92,441,029 (GRCm39)		probably benign	Het
Scube1	A	G	15: 83,518,937 (GRCm39)	V301A	probably damaging	Het
Sema3a	A	T	5: 13,450,004 (GRCm39)	N27I	possibly damaging	Het
Slc15a3	G	T	19: 10,820,406 (GRCm39)	E8*	probably null	Het
Slc22a5	T	C	11: 53,782,032 (GRCm39)	S112G	probably benign	Het
Slc25a45	T	C	19: 5,930,495 (GRCm39)	F3L	probably damaging	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slfn10-ps	A	G	11: 82,921,126 (GRCm39)		noncoding transcript	Het
Slit2	C	A	5: 48,439,068 (GRCm39)	C1077*	probably null	Het
Spn	A	G	7: 126,735,494 (GRCm39)	F82L	possibly damaging	Het
Tbccd1	A	G	16: 22,660,655 (GRCm39)	W54R	probably damaging	Het
Ucp1	G	T	8: 84,017,233 (GRCm39)	E8*	probably null	Het
Unc80	A	T	1: 66,545,782 (GRCm39)		probably benign	Het
Vsnl1	A	T	12: 11,436,987 (GRCm39)		probably null	Het
Zdhhc11	C	T	13: 74,130,805 (GRCm39)	Q295*	probably null	Het
Zfp457	T	A	13: 67,442,098 (GRCm39)	H63L	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
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
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

2013-07-11