Mutagenetix > Incidental Mutation

Incidental Mutation 'R9789:Olfr118'

734575

Institutional Source

Beutler Lab

Gene Symbol

Olfr118

Ensembl Gene

ENSMUSG00000080990

Gene Name

olfactory receptor 118

Synonyms

MOR263-13, GA_x6K02T2PSCP-2131124-2132089

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37666988-37673476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37672168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 48 (N48K)

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: N48K

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

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: N48K

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: N48K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216551
AA Change: N48K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,184,583	S1038R	probably benign	Het
Aar2	T	C	2: 156,550,825	F45L	probably damaging	Het
Abcg2	A	G	6: 58,664,548	Y122C	probably damaging	Het
Arfgef1	A	T	1: 10,173,202	W1041R	probably damaging	Het
Ash1l	A	G	3: 88,966,066	N52S	probably benign	Het
Asrgl1	T	A	19: 9,116,610	T185S	probably damaging	Het
Astl	T	A	2: 127,350,226	S234T	probably damaging	Het
Atp5j2	T	C	5: 145,183,846	Y87C	probably damaging	Het
Atxn7l1	A	T	12: 33,346,063	R264W	probably damaging	Het
Axin2	T	C	11: 108,949,354	Y828H	probably damaging	Het
Bnipl	T	C	3: 95,245,829	D145G	possibly damaging	Het
C8b	A	T	4: 104,782,994	M165L	probably benign	Het
Cd109	T	C	9: 78,634,662	L87P	possibly damaging	Het
Cdk17	C	T	10: 93,225,029	P232S	probably damaging	Het
Cnot1	T	C	8: 95,729,144	E1995G	probably damaging	Het
Csf2rb2	G	A	15: 78,284,996	A653V	probably benign	Het
Cutc	A	G	19: 43,768,260	N264D	probably benign	Het
Cxcr4	C	T	1: 128,589,147	W259*	probably null	Het
Dnah8	T	C	17: 30,761,130		probably null	Het
Dsp	T	C	13: 38,183,961	I652T	probably benign	Het
Dstyk	A	T	1: 132,454,121	M538L	probably benign	Het
Eppk1	T	A	15: 76,109,019	I1221F	probably benign	Het
Ern2	T	A	7: 122,170,262	Y847F	probably damaging	Het
Exosc7	T	A	9: 123,130,925	V197D	probably damaging	Het
Gabra1	T	C	11: 42,133,525	Y441C	probably damaging	Het
Garem1	G	A	18: 21,129,928	P610S	possibly damaging	Het
Garem2	T	A	5: 30,114,332	V264E	probably damaging	Het
Gata2	G	A	6: 88,200,290	G101S	probably benign	Het
Gcnt4	A	G	13: 96,946,921	T242A	probably benign	Het
Ghitm	A	C	14: 37,130,762	Y120*	probably null	Het
Gimap7	A	G	6: 48,723,536	S19G	probably damaging	Het
Gm5475	G	A	15: 100,427,000	G103E	unknown	Het
Gstcd	A	T	3: 133,084,596	C137S	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417		probably benign	Het
Hfm1	T	C	5: 106,917,480	D111G	probably benign	Het
Ighg2b	A	G	12: 113,306,684	I238T		Het
Il2ra	A	C	2: 11,680,350	M166L	probably benign	Het
Itga1	A	T	13: 115,035,284	L95*	probably null	Het
Itpr3	A	G	17: 27,089,941	T373A	probably benign	Het
Klhl28	A	G	12: 64,950,097	V490A	probably damaging	Het
Kntc1	A	T	5: 123,760,643	N200I	possibly damaging	Het
L3mbtl4	A	G	17: 68,459,799	K167R	probably benign	Het
Lgals1	A	T	15: 78,929,730	T63S	probably benign	Het
Lnpep	C	A	17: 17,575,334	C305F	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mcmbp	A	G	7: 128,709,859	I310T	possibly damaging	Het
Mical2	G	A	7: 112,346,789	R986H	probably damaging	Het
Muc5b	A	T	7: 141,861,593	S2759C	possibly damaging	Het
Myh7	A	G	14: 54,991,927	V138A	possibly damaging	Het
Ncr1	T	G	7: 4,341,301		probably null	Het
Ndufa10	A	T	1: 92,469,888	D145E	possibly damaging	Het
Neo1	T	A	9: 58,894,024		probably null	Het
Ninl	A	T	2: 150,949,781	S941T	probably benign	Het
Nrm	T	A	17: 35,861,519		probably null	Het
Nup214	T	C	2: 32,017,215	V1018A	possibly damaging	Het
Odf1	A	G	15: 38,219,472	I15V	probably benign	Het
Olfr1023	C	T	2: 85,886,994	H65Y	probably damaging	Het
Olfr1406	C	T	1: 173,183,891	R181H	probably benign	Het
Olfr32	T	A	2: 90,138,660	T160S	probably benign	Het
Olfr376	A	T	11: 73,374,884	N48I	probably damaging	Het
Olfr490	A	T	7: 108,286,691	V145D	probably benign	Het
Olfr670	A	T	7: 104,960,450	I94N	probably damaging	Het
Olfr850	C	A	9: 19,478,086	D55Y	probably benign	Het
Osgin2	A	T	4: 15,998,957	Y222N	probably damaging	Het
Pcdhga10	T	C	18: 37,749,310	V708A	probably benign	Het
Pfn3	T	C	13: 55,415,087	D27G	possibly damaging	Het
Plch2	A	G	4: 155,010,865		probably null	Het
Plin2	C	A	4: 86,658,677	Q270H	probably damaging	Het
Polk	A	G	13: 96,493,895	F386S	probably damaging	Het
Prkar1a	G	A	11: 109,665,952	G286E	probably damaging	Het
Prodh	A	T	16: 18,080,185	L276Q	probably damaging	Het
Ranbp10	T	C	8: 105,786,674	N202S	probably damaging	Het
Rapgef6	C	A	11: 54,649,271	T724K	probably benign	Het
Rnf144a	T	A	12: 26,327,575	K56N	probably benign	Het
Rpa1	T	A	11: 75,313,112	K303I	probably damaging	Het
Slc16a9	A	C	10: 70,282,510	N220H	possibly damaging	Het
Slc28a3	T	C	13: 58,576,850	I197V	probably benign	Het
Slc35d1	A	T	4: 103,214,749	F19I		Het
Sohlh2	A	T	3: 55,192,300	E164D	probably damaging	Het
Sord	A	T	2: 122,263,284	K295*	probably null	Het
Spata31d1b	A	G	13: 59,712,382	Y23C	probably benign	Het
Stard9	T	A	2: 120,679,936	Y333N	probably damaging	Het
Tas2r107	A	G	6: 131,659,790	F99L	probably damaging	Het
Thap12	C	T	7: 98,703,385		probably benign	Het
Tmprss9	A	T	10: 80,895,159	T840S	probably benign	Het
Trim16	T	A	11: 62,829,200		probably null	Het
Ttc16	C	T	2: 32,774,793		probably null	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Unc80	A	T	1: 66,612,212	Y1572F	possibly damaging	Het
Usp42	G	T	5: 143,720,305	A320D	possibly damaging	Het
Vmn2r94	T	C	17: 18,243,776	T751A	probably damaging	Het
Zbtb41	C	T	1: 139,440,346	L591F	probably damaging	Het
Zdhhc5	T	A	2: 84,694,318	E219D	probably damaging	Het
Zfp248	A	T	6: 118,429,051	F526I	probably damaging	Het
Zfp322a	T	C	13: 23,356,388	K395E	possibly damaging	Het
Zfp423	G	A	8: 87,780,249	P1156S	probably benign	Het
Zfp644	T	C	5: 106,638,265	T139A	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
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
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
R9778:Olfr118	UTSW	17	37672254	missense	probably damaging	0.97
RF003:Olfr118	UTSW	17	37672858	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATCTAATGATTTGCTGTCCTTTC -3'
(R):5'- TGTAGCGGTCAAAGGCCATG -3'

Sequencing Primer
(F):5'- CTTTCAGGAGATGAGTGTCAACTGC -3'
(R):5'- TGGCTGCCAATAGACAGC -3'

Posted On

2022-11-14