Mutagenetix > Incidental Mutations

Incidental Mutation 'R7355:Olfr118'

570913

Institutional Source

Beutler Lab

Gene Symbol

Olfr118

Ensembl Gene

ENSMUSG00000080990

Gene Name

olfactory receptor 118

Synonyms

MOR263-13, GA_x6K02T2PSCP-2131124-2132089

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37666988-37673476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37672410 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 129 (Y129C)

Ref Sequence

ENSEMBL: ENSMUSP00000150176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122036] [ENSMUST00000215811] [ENSMUST00000216551]

Predicted Effect

probably benign
Transcript: ENSMUST00000122036
AA Change: Y129C

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: Y129C

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	32	173	2e-6	PFAM
Pfam:7tm_4	37	314	2.1e-57	PFAM
Pfam:7TM_GPCR_Srsx	41	311	5.8e-6	PFAM
Pfam:7tm_1	47	296	1.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215811
AA Change: Y129C

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216551
AA Change: Y129C

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,267,647	R1469W	probably benign	Het
Acad10	G	T	5: 121,630,717	Y728*	probably null	Het
Adamts17	T	C	7: 67,075,304	V160A		Het
AI481877	T	C	4: 59,076,155	D596G	probably benign	Het
Astn1	A	T	1: 158,664,276		probably null	Het
Atp8a2	T	C	14: 60,045,004	K104E	possibly damaging	Het
Axl	T	C	7: 25,774,106	Y365C	probably benign	Het
Btbd16	A	T	7: 130,821,443	Y409F	probably benign	Het
Caln1	A	T	5: 130,414,891	T22S	probably benign	Het
Camk1	C	A	6: 113,338,346	G164C	probably damaging	Het
Cd96	T	C	16: 46,041,292	T512A	possibly damaging	Het
Ceacam5	A	G	7: 17,747,387	D353G	probably damaging	Het
Cep162	C	A	9: 87,253,955	E12*	probably null	Het
Cfh	A	T	1: 140,136,815	V365E	probably damaging	Het
Chd7	A	G	4: 8,752,196	H231R	unknown	Het
Cntnap3	T	C	13: 64,771,962	T694A	probably benign	Het
Colq	C	A	14: 31,545,109	G158V	probably damaging	Het
Ctif	G	A	18: 75,610,685	H139Y	probably damaging	Het
D630003M21Rik	A	T	2: 158,200,224	F934Y	probably damaging	Het
Dclre1a	T	A	19: 56,547,135	T6S	possibly damaging	Het
Dnmbp	T	C	19: 43,901,741	D529G	probably benign	Het
Fat2	T	A	11: 55,256,551	Q3955L	probably benign	Het
Gjd4	A	G	18: 9,280,860	S73P	probably damaging	Het
Gm14025	G	T	2: 129,037,229	Q926K	unknown	Het
Gm19410	C	A	8: 35,807,072	Q1460K	probably benign	Het
Golga5	A	T	12: 102,472,235	I70F	possibly damaging	Het
Gon4l	T	A	3: 88,863,520	I502N	probably damaging	Het
Gtf2ird2	C	G	5: 134,216,649	A583G	probably benign	Het
Hectd1	A	C	12: 51,791,298	W694G	possibly damaging	Het
Ifit1bl2	C	T	19: 34,619,661	G185D	probably damaging	Het
Igfbp6	G	A	15: 102,147,940	A145T	probably benign	Het
Junb	C	T	8: 84,978,384	A16T	probably benign	Het
Kcnh4	C	T	11: 100,752,443	V333I	possibly damaging	Het
Ly6c1	T	C	15: 75,047,407	T45A	possibly damaging	Het
Mon2	T	A	10: 123,009,516	Q1428L	probably benign	Het
Nfatc2ip	C	T	7: 126,387,611		probably null	Het
Olfml3	C	A	3: 103,736,079	G329W	probably damaging	Het
Olfr1012	C	T	2: 85,753,679	P106L	probably benign	Het
Olfr1118	T	C	2: 87,309,410	V207A	probably benign	Het
Olfr215	T	A	6: 116,582,955		probably benign	Het
Pcsk7	A	G	9: 45,909,374	M35V	probably benign	Het
Phf14	A	G	6: 12,081,007	N921S	probably benign	Het
Pla2g4e	G	A	2: 120,181,501	S396F	possibly damaging	Het
Ppp4r4	A	T	12: 103,604,582	K766*	probably null	Het
Pprc1	T	C	19: 46,065,346	V1105A	unknown	Het
Prdm9	T	G	17: 15,545,235	N428H	probably benign	Het
Prkcg	C	T	7: 3,323,509	T497I	possibly damaging	Het
Prkcz	A	G	4: 155,357,496	W60R	probably damaging	Het
Ptprn2	T	C	12: 116,858,951	F217L	probably benign	Het
Pum2	T	A	12: 8,713,906	Y283*	probably null	Het
Rest	A	G	5: 77,268,028	M30V	probably benign	Het
Rfxank	C	T	8: 70,135,307	R150H	probably damaging	Het
Ros1	T	A	10: 52,166,079	Q250L	probably damaging	Het
Sgk2	A	G	2: 163,013,067	D366G	probably benign	Het
Siglec1	A	T	2: 131,080,451	L568Q	probably benign	Het
Slain1	AT	ATT	14: 103,702,576		probably null	Het
Slc10a5	A	T	3: 10,334,315	Y428*	probably null	Het
Slc25a54	T	C	3: 109,102,769	W195R	probably damaging	Het
Slf1	A	G	13: 77,091,303	I414T	probably damaging	Het
Snx4	C	T	16: 33,266,866	P127L	probably damaging	Het
Spdl1	A	T	11: 34,823,364	L166H	not run	Het
Tapt1	C	T	5: 44,177,117	V511I	probably benign	Het
Tbata	A	G	10: 61,174,320		probably benign	Het
Tbx4	T	A	11: 85,912,009	V264E	probably damaging	Het
Tecta	A	T	9: 42,367,142	Y1023*	probably null	Het
Thop1	A	G	10: 81,075,631	D117G	probably damaging	Het
Trip12	A	G	1: 84,814,883	L13P	probably damaging	Het
Unc13b	T	A	4: 43,237,754	V637E	probably damaging	Het
Yipf3	T	A	17: 46,250,640	M168K	probably damaging	Het
Zcchc6	T	C	13: 59,821,802	N93S	probably benign	Het
Zfp119a	A	T	17: 55,866,287	C185*	probably null	Het
Zfyve21	A	T	12: 111,825,051	I157F	possibly damaging	Het
Zfyve26	A	T	12: 79,240,054	D2253E	probably damaging	Het

Other mutations in Olfr118

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Olfr118	APN	17	37672887	missense	probably damaging	1.00
IGL02456:Olfr118	APN	17	37672449	missense	possibly damaging	0.90
IGL02750:Olfr118	APN	17	37672609	nonsense	probably null
IGL03083:Olfr118	APN	17	37672660	nonsense	probably null
IGL03339:Olfr118	APN	17	37672557	missense	possibly damaging	0.87
R0032:Olfr118	UTSW	17	37672487	missense	probably damaging	1.00
R1457:Olfr118	UTSW	17	37672925	nonsense	probably null
R1542:Olfr118	UTSW	17	37672251	missense	probably damaging	1.00
R1771:Olfr118	UTSW	17	37672663	missense	probably damaging	1.00
R1893:Olfr118	UTSW	17	37672856	nonsense	probably null
R2395:Olfr118	UTSW	17	37672696	nonsense	probably null
R3619:Olfr118	UTSW	17	37672640	missense	probably benign	0.05
R3917:Olfr118	UTSW	17	37672793	missense	probably damaging	1.00
R3937:Olfr118	UTSW	17	37672967	missense	probably benign	0.01
R5600:Olfr118	UTSW	17	37672285	missense	possibly damaging	0.91
R6415:Olfr118	UTSW	17	37672557	missense	possibly damaging	0.87
R6462:Olfr118	UTSW	17	37672220	missense	probably damaging	1.00
R7861:Olfr118	UTSW	17	37672517	missense	possibly damaging	0.91
R7913:Olfr118	UTSW	17	37672108	missense	probably benign
R7952:Olfr118	UTSW	17	37672817	missense	probably damaging	1.00
R7969:Olfr118	UTSW	17	37672656	missense	probably damaging	1.00
RF003:Olfr118	UTSW	17	37672858	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAACTTGTCTCTCCTGGAG -3'
(R):5'- GCCTCATTTTGGGATGTATCGC -3'

Sequencing Primer
(F):5'- TCCTGGAGATCGGCTACACTTG -3'
(R):5'- TTGGGATGTATCGCCACAAGC -3'

Posted On

2019-09-13