Mutagenetix > Incidental Mutations

Incidental Mutation 'R1893:Olfr118'

211756

Institutional Source

Beutler Lab

Gene Symbol

Olfr118

Ensembl Gene

ENSMUSG00000080990

Gene Name

olfactory receptor 118

Synonyms

MOR263-13, GA_x6K02T2PSCP-2131124-2132089

MMRRC Submission

039913-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37666988-37673476 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 37672856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 278 (K278*)

Ref Sequence

ENSEMBL: ENSMUSP00000151212 (fasta)

Gene Model

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

AlphaFold

Q7TRJ6

Predicted Effect

probably null
Transcript: ENSMUST00000122036
AA Change: K278*

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: K278*

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 null
Transcript: ENSMUST00000215811
AA Change: K278*

Predicted Effect

probably null
Transcript: ENSMUST00000216551
AA Change: K278*

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,267,809	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,514,799	R347Q	probably benign	Het
Abca15	A	T	7: 120,340,553	M293L	possibly damaging	Het
Abcb7	A	T	X: 104,342,536	H97Q	probably damaging	Het
Aldh1l2	G	T	10: 83,492,536	N772K	probably damaging	Het
Ascc2	T	A	11: 4,672,305	L457Q	probably benign	Het
Aspm	T	A	1: 139,479,867	I2164N	probably damaging	Het
Cabs1	A	G	5: 87,980,035	T182A	probably benign	Het
Carmil1	T	C	13: 24,024,463	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 94,913,543	T41M	probably damaging	Het
Clec2h	T	C	6: 128,670,832	V48A	probably benign	Het
Cpb2	G	A	14: 75,255,963	V27I	probably benign	Het
Cr2	T	C	1: 195,155,187	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,452,606	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,326,667	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,096,567	S336L	possibly damaging	Het
D230025D16Rik	G	T	8: 105,246,501	V248F	probably damaging	Het
Dnah10	T	C	5: 124,754,317	V803A	probably benign	Het
Dnah17	T	A	11: 118,066,968	T2745S	probably benign	Het
E330021D16Rik	A	G	6: 136,401,827	S2P	possibly damaging	Het
Ep300	T	A	15: 81,631,646		probably benign	Het
Epha3	A	G	16: 63,568,399	S829P	probably damaging	Het
Fads3	C	A	19: 10,056,504	H418N	probably benign	Het
Fat1	T	C	8: 45,023,856	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,279,803	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,375,671	R337H	probably benign	Het
Gbp2	G	T	3: 142,630,172		probably benign	Het
Gja10	G	A	4: 32,601,541	S281L	probably benign	Het
Gm5422	G	A	10: 31,249,613		noncoding transcript	Het
Gmpr	T	A	13: 45,520,947	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,834,362	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,757,314	V111A	probably benign	Het
Hipk3	G	A	2: 104,433,256	R905W	probably damaging	Het
Hpn	T	A	7: 31,099,348	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,900,680	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,831,883	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,387,695		probably null	Het
Klhl1	A	T	14: 96,240,206		probably null	Het
Lrrn1	A	T	6: 107,568,122	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,768,033	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,001,557	V579E	probably benign	Het
Mapre2	A	G	18: 23,853,717	K62R	probably damaging	Het
Mdga1	A	T	17: 29,849,226	Y305N	probably damaging	Het
Mgl2	T	A	11: 70,134,167		probably null	Het
Mnx1	C	T	5: 29,477,830	G149D	unknown	Het
Mtbp	T	A	15: 55,557,668	S17T	probably benign	Het
Neu3	T	C	7: 99,823,420	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,223		probably null	Het
Odf3l1	A	G	9: 56,849,214	Y173H	probably benign	Het
Olfr466	T	A	13: 65,152,992	M256K	possibly damaging	Het
Olfr522	T	C	7: 140,162,821	N43S	probably damaging	Het
Olfr981	A	T	9: 40,022,974	I194F	possibly damaging	Het
Osr2	A	G	15: 35,300,462	T55A	possibly damaging	Het
Palld	A	G	8: 61,516,621	V981A	probably damaging	Het
Pbx1	A	T	1: 168,203,410	M213K	possibly damaging	Het
Pcdhb12	C	A	18: 37,437,083	H427Q	probably benign	Het
Perm1	C	T	4: 156,217,883	R295C	probably benign	Het
Polm	T	C	11: 5,835,574	T162A	possibly damaging	Het
Prox1	A	G	1: 190,160,518		probably benign	Het
Ptpn7	A	T	1: 135,134,903	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Rab21	T	C	10: 115,290,900	T181A	probably benign	Het
Rab38	A	T	7: 88,490,716	T198S	probably benign	Het
Rnase4	C	G	14: 51,104,938	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,416,448	W645R	probably damaging	Het
Rnf8	A	G	17: 29,621,550	I51M	probably damaging	Het
Sbpl	T	A	17: 23,953,267	D226V	unknown	Het
Sdf4	T	G	4: 156,000,748	I180S	probably benign	Het
Simc1	A	G	13: 54,539,715	K99R	probably damaging	Het
Slc2a4	T	C	11: 69,946,572	Q49R	probably damaging	Het
Slco1a4	T	C	6: 141,834,616		probably null	Het
Slco5a1	C	A	1: 12,894,472	C527F	probably damaging	Het
Sox6	T	A	7: 115,544,568	N405I	probably benign	Het
Sphkap	G	A	1: 83,278,966	P354L	probably benign	Het
Spi1	A	G	2: 91,114,357	D149G	probably benign	Het
Sptan1	T	A	2: 30,020,460	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,044	V37E	possibly damaging	Het
Sult2a6	T	C	7: 14,225,889	T240A	probably benign	Het
Tacc2	A	G	7: 130,625,325	S1247G	probably benign	Het
Taf4	T	C	2: 179,933,030	D594G	probably damaging	Het
Tap1	T	G	17: 34,194,941	D643E	probably damaging	Het
Ticam1	T	C	17: 56,271,894	N67S	probably benign	Het
Tlr6	A	G	5: 64,953,213	F784L	probably damaging	Het
Tmprss15	A	G	16: 79,071,418	V202A	probably benign	Het
Trp53bp2	T	C	1: 182,431,628	V82A	probably benign	Het
Ube2o	C	T	11: 116,548,835	V170I	possibly damaging	Het
Vmn1r177	G	A	7: 23,866,148	T101I	probably benign	Het
Vmn2r68	A	T	7: 85,234,659	Y79*	probably null	Het
Wdr35	A	C	12: 8,985,994	Y255S	probably benign	Het
Zfp507	A	T	7: 35,802,627		probably benign	Het
Zfp688	G	A	7: 127,419,237	R239C	probably damaging	Het
Zfp74	T	A	7: 29,936,045		probably null	Het
Zfp932	A	G	5: 110,009,203	N223D	possibly 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
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
R7355:Olfr118	UTSW	17	37672410	missense	probably benign	0.02
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
R8879:Olfr118	UTSW	17	37672411	nonsense	probably null
R8923:Olfr118	UTSW	17	37672811	missense	probably benign	0.00
R9253:Olfr118	UTSW	17	37672746	missense	probably benign	0.00
RF003:Olfr118	UTSW	17	37672858	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCTGCAATCTTTGTGGC -3'
(R):5'- TGCACATTTTCATTAGCCAGCAG -3'

Sequencing Primer
(F):5'- GGCCGTAGTTCTCTGCATATCTAG -3'
(R):5'- AGCTCTGCAAGGTTCTGTTAC -3'

Posted On

2014-06-30