Mutagenetix > Incidental Mutation

Incidental Mutation 'R7952:Olfr118'

649640

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: 0.066) question?

Stock #

R7952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37666988-37673476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37672817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 265 (Y265H)

Ref Sequence

ENSEMBL: ENSMUSP00000150176 (fasta)

Gene Model

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

AlphaFold

Q7TRJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000122036
AA Change: Y265H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: Y265H

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 damaging
Transcript: ENSMUST00000215811
AA Change: Y265H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216551
AA Change: Y265H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

98% (47/48)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,752,338	S516P	possibly damaging	Het
Adora1	A	G	1: 134,203,286	S216P	possibly damaging	Het
Arhgap17	G	T	7: 123,286,691	S739R	probably benign	Het
Bphl	A	G	13: 34,046,797	T75A	probably benign	Het
Ccdc73	G	A	2: 104,945,456		probably null	Het
Cela3b	T	C	4: 137,421,908	I262V	probably benign	Het
Chpf	T	C	1: 75,478,942	N55S	probably benign	Het
Chst8	A	G	7: 34,675,494	Y307H	probably damaging	Het
Cmtm2b	G	T	8: 104,330,571	E188*	probably null	Het
Cmya5	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	13: 93,097,004		probably benign	Het
Cxadr	C	T	16: 78,334,235	T213M	possibly damaging	Het
D3Ertd751e	T	A	3: 41,748,661		probably null	Het
Dhx32	T	C	7: 133,748,996	Y115C	probably benign	Het
Dopey2	C	A	16: 93,749,960	T284K	possibly damaging	Het
Dync2h1	A	G	9: 7,129,802	V1732A	possibly damaging	Het
Egf	C	T	3: 129,739,996	R65Q	probably damaging	Het
Fat4	T	G	3: 38,891,721	S1588A	probably damaging	Het
Fmnl3	A	G	15: 99,322,637	V588A	probably damaging	Het
Galnt3	C	T	2: 66,097,842	E237K	probably benign	Het
Gm7682	T	C	5: 94,447,043	V254A	probably benign	Het
Grik2	T	C	10: 49,422,537	I363V	probably benign	Het
Grik3	C	T	4: 125,704,547	T769I	probably damaging	Het
Hpd	A	T	5: 123,178,264	D141E	possibly damaging	Het
Hrc	A	T	7: 45,336,268	D281V	probably damaging	Het
Igfn1	A	T	1: 135,963,955	I2274K	probably damaging	Het
Iqgap3	A	G	3: 88,098,370	I502V	probably benign	Het
Kcnh8	A	T	17: 52,959,465	Q835L	probably benign	Het
Kmt2d	C	T	15: 98,850,768	G2892R	unknown	Het
Lama4	T	G	10: 39,030,490	I284S	probably benign	Het
Madd	C	A	2: 91,162,541	G1011V	probably damaging	Het
Mroh2b	T	C	15: 4,951,211	F1421L	probably damaging	Het
Nadk	G	T	4: 155,577,067	D17Y	probably benign	Het
Nedd9	C	A	13: 41,316,955	D241Y	probably damaging	Het
Notch2	T	C	3: 98,100,236	V434A	probably benign	Het
Ofcc1	C	T	13: 40,280,305	R108Q	probably benign	Het
Olfr578	A	G	7: 102,984,514	F217L	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prss55	A	G	14: 64,075,683	Y251H	probably damaging	Het
Rec8	T	C	14: 55,625,303	V573A	possibly damaging	Het
Ryr2	T	C	13: 11,646,427		probably null	Het
Sec31b	A	G	19: 44,520,540	S667P	probably benign	Het
Smim17	A	G	7: 6,424,850	D45G	possibly damaging	Het
Sspo	A	G	6: 48,487,329	T3906A	probably damaging	Het
Tanc2	G	T	11: 105,896,597	G908W	probably damaging	Het
Tcf7l2	A	T	19: 55,898,557	M1L	probably benign	Het
Tcrg-C4	T	A	13: 19,349,570	S121R		Het
Tpx2	C	T	2: 152,893,594	A714V	probably damaging	Het
Trmt1	G	A	8: 84,689,340	R9H	possibly damaging	Het
Unc13a	A	T	8: 71,658,487	V360E	possibly damaging	Het
Vmn1r225	T	A	17: 20,502,327	I10N	probably damaging	Het
Xkr4	A	G	1: 3,670,619	S244P	possibly damaging	Het
Zkscan14	G	T	5: 145,195,898	H274Q	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
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
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
R9778:Olfr118	UTSW	17	37672254	missense	probably damaging	0.97
R9789:Olfr118	UTSW	17	37672168	missense	probably damaging	1.00
RF003:Olfr118	UTSW	17	37672858	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGCGATACATCCCAAAATGAG -3'
(R):5'- GCTCTGCAAGGTTCTGTTACC -3'

Sequencing Primer
(F):5'- CCCAAAATGAGGCTGCAATCTTTG -3'
(R):5'- GTTACCTATTTATTGCCCGAGATG -3'

Posted On

2020-09-15