Mutagenetix > Incidental Mutation

Incidental Mutation 'R7913:Olfr118'

610696

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: 0.065) question?

Stock #

R7913 (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 37672108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 28 (E28D)

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: E28D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113988
Gene: ENSMUSG00000080990
AA Change: E28D

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: E28D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216551
AA Change: E28D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (65/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	A	G	10: 91,060,271	V324A	probably damaging	Het
Aqp8	T	A	7: 123,464,272	I115N	possibly damaging	Het
Atrn	G	A	2: 130,970,211	C692Y	probably damaging	Het
Card10	A	T	15: 78,781,103	S717T	possibly damaging	Het
Cep78	T	C	19: 15,970,577	S408G	probably benign	Het
Col24a1	G	T	3: 145,431,866	G895*	probably null	Het
Cs	A	T	10: 128,350,441	K34N	possibly damaging	Het
Dchs1	T	C	7: 105,759,228	E1799G	possibly damaging	Het
Dlg5	A	T	14: 24,137,124		probably null	Het
Dpy19l4	A	T	4: 11,265,859	Y696*	probably null	Het
Dync1h1	A	T	12: 110,628,734	N1360I	probably benign	Het
Fgd2	G	T	17: 29,374,045	R423L	probably damaging	Het
Fmo4	T	C	1: 162,794,172	D490G	possibly damaging	Het
Gm13083	T	A	4: 143,615,045	Y15N	possibly damaging	Het
Gm5113	A	T	7: 30,178,223		probably benign	Het
Grid1	T	A	14: 35,569,697	W854R	probably damaging	Het
H2-M1	T	C	17: 36,670,237		probably null	Het
Hivep1	T	A	13: 42,156,366	M694K	probably benign	Het
Hsd17b6	T	C	10: 127,997,776	T79A	possibly damaging	Het
Hspa4	A	C	11: 53,262,307	V761G	probably benign	Het
Ifi203	T	C	1: 173,926,957	Y736C	probably damaging	Het
Mettl9	T	A	7: 121,076,301	L308Q	probably damaging	Het
Miox	A	G	15: 89,336,582	D230G	probably damaging	Het
Ncapd3	T	A	9: 27,048,226	C319*	probably null	Het
Ncs1	C	A	2: 31,287,284		probably null	Het
Nell1	T	A	7: 50,279,522	H392Q	possibly damaging	Het
Nlrp1b	C	A	11: 71,217,711	E321D	possibly damaging	Het
Nlrp9b	A	T	7: 20,045,800	H796L	probably benign	Het
Nudt16l1	C	A	16: 4,939,381	Q53K	possibly damaging	Het
Nyap1	A	G	5: 137,734,969	S601P	probably damaging	Het
Odf2l	C	T	3: 145,153,483	Q634*	probably null	Het
Olfr1023	T	A	2: 85,887,730	L310H	probably damaging	Het
Olfr1150-ps1	A	G	2: 87,846,693	I141V	probably benign	Het
Olfr1477	T	A	19: 13,503,207	V288E	probably damaging	Het
Olfr205	C	T	16: 59,329,243	D89N	possibly damaging	Het
Olfr381	A	G	11: 73,486,398	V142A	probably benign	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,709,168		probably benign	Het
Pik3c2b	T	C	1: 133,090,061		probably null	Het
Prl3c1	A	G	13: 27,199,410	I40V	probably benign	Het
R3hdm4	C	T	10: 79,911,945	A229T	probably damaging	Het
Rab3gap2	T	C	1: 185,262,816	S851P	possibly damaging	Het
Ralgapb	A	T	2: 158,465,939	I1056F	probably damaging	Het
Sec16b	T	C	1: 157,529,329	Y36H	probably benign	Het
Setd3	A	T	12: 108,107,665	V451D	probably benign	Het
Slc35e1	T	C	8: 72,484,662	K334R	probably damaging	Het
Synj1	A	T	16: 90,991,427	N184K	possibly damaging	Het
Syt1	T	C	10: 108,642,248	D105G	probably benign	Het
Taar7e	T	A	10: 24,038,004	C131S	possibly damaging	Het
Tead4	A	G	6: 128,243,368		probably null	Het
Tescl	C	A	7: 24,333,651	R83L	probably damaging	Het
Ufd1	G	T	16: 18,814,866	V14F	probably benign	Het
Ugt1a10	T	A	1: 88,055,755	Y92N	probably benign	Het
Vmn2r52	C	A	7: 10,162,950	V532L	probably benign	Het
Vmn2r67	G	A	7: 85,151,828	T300I	possibly damaging	Het
Wt1	T	G	2: 105,166,860	S381A	probably damaging	Het
Zbtb44	C	T	9: 31,054,208	Q305*	probably null	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
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
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'- GACTGCAGAGAAGGATTCTGTCTC -3'
(R):5'- ATCTCACTTACAAGGTTCTGCAAC -3'

Sequencing Primer
(F):5'- CTCTGATGTAACTGATGCTCTTACAG -3'
(R):5'- CTGCAACATCTTCGGTATGACAG -3'

Posted On

2019-12-20