Mutagenetix > Incidental Mutation

Incidental Mutation 'R9253:Olfr118'

701687

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: 0.065) question?

Stock #

R9253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37666988-37673476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37672746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 241 (H241L)

Ref Sequence

ENSEMBL: ENSMUSP00000150176 (fasta)

Gene Model

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

AlphaFold

Q7TRJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000122036
AA Change: H241L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: H241L

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: H241L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000216551
AA Change: H241L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.1533

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 58,969,941	N685D	probably damaging	Het
Adh4	A	T	3: 138,424,099	I229F	probably damaging	Het
Aldh3b1	T	A	19: 3,915,315	S399C	probably damaging	Het
Arhgef28	C	T	13: 97,988,271	G501D	probably benign	Het
Asb1	C	A	1: 91,540,829	T6N	unknown	Het
Asb18	C	T	1: 89,954,463	V382I	probably benign	Het
AU041133	T	C	10: 82,151,386	I291T	probably benign	Het
B4galnt2	C	T	11: 95,868,350		silent	Het
Bcl7c	T	C	7: 127,707,231		probably benign	Het
Brinp1	T	C	4: 68,792,846	N375S	possibly damaging	Het
C6	A	G	15: 4,735,197	Q125R	probably benign	Het
Card14	T	C	11: 119,321,933	S108P	probably benign	Het
Clec4a2	C	A	6: 123,123,649	T21N	probably damaging	Het
Cntnap2	C	T	6: 46,001,178	L256F	probably benign	Het
Cobll1	G	A	2: 65,151,159	T29I	probably benign	Het
Coq4	A	T	2: 29,795,421	D149V	probably damaging	Het
Dync1i1	T	C	6: 5,769,698	L91S	probably benign	Het
Fat2	T	A	11: 55,310,571	D559V	probably damaging	Het
Gm4779	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	X: 101,793,311		probably benign	Het
Gm996	T	C	2: 25,577,160	H913R	possibly damaging	Het
Gsdmc	A	T	15: 63,804,558	V12E	probably damaging	Het
H2-Ab1	T	C	17: 34,267,404	S146P	probably damaging	Het
Heatr5b	A	G	17: 78,827,994	V236A	probably benign	Het
Hfe2	T	C	3: 96,528,394	S323P	probably benign	Het
Hmgcr	C	T	13: 96,660,137	C215Y	probably damaging	Het
L3mbtl1	G	T	2: 162,947,712	A57S	probably benign	Het
Lilr4b	G	A	10: 51,481,767	V186I	probably damaging	Het
Map1a	T	C	2: 121,302,342	V1213A	probably benign	Het
Marf1	T	C	16: 14,117,308	E1532G	probably damaging	Het
Mcm6	T	C	1: 128,351,527	Y174C	probably damaging	Het
Miga2	T	A	2: 30,371,227	V178E	probably benign	Het
Myh11	T	A	16: 14,256,495	I174F		Het
Ndufv1	G	T	19: 4,009,412	A211E	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nrp1	T	C	8: 128,502,663	V874A	possibly damaging	Het
Nsf	C	T	11: 103,913,316	G197S	probably null	Het
Olfr1395	T	C	11: 49,148,995	M246T	probably damaging	Het
Pacs2	A	G	12: 113,050,517	D196G	probably benign	Het
Pbxip1	A	G	3: 89,443,705	D118G	probably benign	Het
Pcdhb11	A	T	18: 37,421,476		probably benign	Het
Pgk2	C	T	17: 40,208,342	G65D	probably damaging	Het
Plcd3	T	C	11: 103,079,634	D193G	probably benign	Het
Plcl2	T	G	17: 50,608,099	M712R	probably damaging	Het
Plxna1	G	A	6: 89,357,540	Q36*	probably null	Het
Plxnb2	A	G	15: 89,167,812	V68A	probably benign	Het
Polr2b	A	G	5: 77,345,377	I1069V	probably benign	Het
Rbfox1	A	G	16: 7,294,109	T200A	probably benign	Het
Rspry1	T	A	8: 94,622,993	V3D	probably damaging	Het
Serpinb6d	T	C	13: 33,671,222	M293T	probably damaging	Het
Slc4a8	A	G	15: 100,783,032	R72G	probably benign	Het
Smarca5	A	C	8: 80,719,715	L452W	probably damaging	Het
Srcin1	T	C	11: 97,525,551	K952E	probably damaging	Het
Synpo2l	G	T	14: 20,666,670	Q79K	possibly damaging	Het
Tmem174	T	C	13: 98,637,295	E9G	possibly damaging	Het
Tmem270	T	C	5: 134,901,790	T206A	probably damaging	Het
Ttn	T	A	2: 76,732,607	T28668S	possibly damaging	Het
Vmn1r118	A	T	7: 20,911,892	S152R	possibly damaging	Het
Vmn2r25	T	A	6: 123,840,001	Q207L	probably damaging	Het
Vmn2r81	T	A	10: 79,293,748	S824R	probably damaging	Het
Vps54	G	A	11: 21,308,771	V733I	probably benign	Het
Zfp518b	G	T	5: 38,672,258	D801E	probably benign	Het
Zgrf1	C	A	3: 127,598,779	P1316Q	probably damaging	Het
Zzef1	C	A	11: 72,848,637		probably benign	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
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'- ATAGACCACTTCTTCTGTGACC -3'
(R):5'- TGCCCGAGATGTCTTCAGAC -3'

Sequencing Primer
(F):5'- GTGACCTTCCACCTGTCCTGG -3'
(R):5'- CCGAGATGTCTTCAGACTCAGAG -3'

Posted On

2022-03-25