Mutagenetix > Incidental Mutation

Incidental Mutation 'R1595:Olfr119'

175765

Institutional Source

Beutler Lab

Gene Symbol

Olfr119

Ensembl Gene

ENSMUSG00000059964

Gene Name

olfactory receptor 119

Synonyms

MOR263-7, GA_x6K02T2PSCP-2159633-2160598

MMRRC Submission

039632-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37696564-37702124 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37701113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 148 (A148S)

Ref Sequence

ENSEMBL: ENSMUSP00000150099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080483] [ENSMUST00000213732]

AlphaFold

Q7TRJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000080483
AA Change: A148S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092919
Gene: ENSMUSG00000059964
AA Change: A148S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	5.6e-59	PFAM
Pfam:7TM_GPCR_Srsx	41	311	1.7e-5	PFAM
Pfam:7tm_1	47	296	3.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213732
AA Change: A148S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.0901

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

97% (77/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,177,300		probably null	Het
Abcc10	G	T	17: 46,322,238	P556H	probably damaging	Het
Abcc9	A	T	6: 142,633,095	D914E	probably benign	Het
Adgrf4	A	G	17: 42,667,873	V193A	probably benign	Het
Adm	A	T	7: 110,629,091	T160S	probably damaging	Het
Ammecr1l	T	C	18: 31,772,120		probably null	Het
Angpt2	T	C	8: 18,698,113	D377G	probably damaging	Het
Ankfn1	A	G	11: 89,422,767		probably null	Het
Arhgap30	T	G	1: 171,408,341	M761R	probably benign	Het
Asb4	T	G	6: 5,390,692	N28K	probably damaging	Het
Ccdc144b	C	T	3: 36,018,997	A379T	probably damaging	Het
Cd177	A	T	7: 24,744,964	D696E	probably benign	Het
Cd200	G	A	16: 45,394,851	T123I	probably benign	Het
Cfap70	A	G	14: 20,447,536	V50A	probably benign	Het
Chaf1b	T	C	16: 93,905,099		probably null	Het
Chgb	A	C	2: 132,793,737	D533A	probably benign	Het
Col12a1	A	G	9: 79,602,254	Y3041H	probably damaging	Het
Crot	T	C	5: 8,974,186	N337D	probably benign	Het
Csad	G	A	15: 102,177,782	A51V	probably damaging	Het
Cyp2b9	A	G	7: 26,200,907	Y380C	possibly damaging	Het
Dpysl2	G	T	14: 66,815,503	A299E	probably damaging	Het
Efcc1	A	G	6: 87,731,458	E189G	probably damaging	Het
Egfr	T	C	11: 16,906,847	I940T	probably damaging	Het
Etnk2	T	G	1: 133,373,179	L228R	possibly damaging	Het
Fitm2	A	G	2: 163,469,690	I201T	probably benign	Het
Foxo1	A	T	3: 52,345,954	M513L	probably benign	Het
Galnt16	A	T	12: 80,590,636	K379I	probably damaging	Het
Gm5689	T	C	18: 42,173,389	M7T	probably benign	Het
Gtf2a1	T	A	12: 91,589,549	N6Y	probably damaging	Het
Kcnc1	G	A	7: 46,427,586	V271M	probably benign	Het
Klhdc8b	T	A	9: 108,451,163	D30V	probably damaging	Het
Lrrc7	G	A	3: 158,177,277	Q448*	probably null	Het
Med29	T	C	7: 28,392,503	D54G	probably damaging	Het
Mfn2	T	C	4: 147,894,696	T60A	probably benign	Het
Mroh1	T	C	15: 76,433,530		probably benign	Het
Mxd1	A	T	6: 86,651,471	V149E	possibly damaging	Het
Naip6	A	T	13: 100,299,094	Y974N	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Nhsl1	G	T	10: 18,526,348	K1107N	probably damaging	Het
Nlrc3	T	C	16: 3,965,302	E81G	probably benign	Het
Olfr311	G	T	11: 58,841,652	M179I	probably benign	Het
Osbpl5	C	T	7: 143,703,218	V392M	possibly damaging	Het
Pcdhb22	T	A	18: 37,520,453	V401E	probably damaging	Het
Pcm1	T	A	8: 41,309,635	H1444Q	probably damaging	Het
Pdlim2	A	G	14: 70,164,744	Y308H	probably damaging	Het
Phf14	T	G	6: 11,988,753	L664R	possibly damaging	Het
Phkb	T	C	8: 86,026,553		probably benign	Het
Ptchd3	T	A	11: 121,830,594	F98I	probably damaging	Het
Ptprt	C	T	2: 161,810,549		probably null	Het
Rbp3	A	T	14: 33,956,198	H701L	possibly damaging	Het
Rgl1	T	C	1: 152,675,023		probably benign	Het
Satb1	A	T	17: 51,782,701	S373T	possibly damaging	Het
Scn3a	T	A	2: 65,498,979	Y769F	probably damaging	Het
Senp7	A	G	16: 56,184,768	I922V	probably damaging	Het
Serpina3g	A	G	12: 104,239,272	E90G	probably benign	Het
Sh3rf2	C	T	18: 42,111,288	T273I	probably damaging	Het
Slc15a3	A	G	19: 10,854,311	T350A	probably benign	Het
Socs5	T	C	17: 87,134,195	C188R	probably damaging	Het
Tacr1	A	G	6: 82,403,742	T45A	probably benign	Het
Th	A	G	7: 142,897,008	V117A	probably benign	Het
Thpo	C	A	16: 20,728,456	D81Y	probably damaging	Het
Tmem229b-ps	A	G	10: 53,475,289		noncoding transcript	Het
Trpc4	A	G	3: 54,315,815	E724G	probably benign	Het
Ttn	T	C	2: 76,746,633	T24639A	probably damaging	Het
Ulk4	A	G	9: 121,044,838	S1176P	probably damaging	Het
Urgcp	T	C	11: 5,717,447	D297G	probably damaging	Het
Vmn1r168	G	A	7: 23,541,195	G159D	probably damaging	Het
Vmn1r67	A	T	7: 10,447,670	N226I	probably benign	Het
Vmn2r27	T	C	6: 124,231,615	E57G	probably benign	Het
Zdhhc14	G	T	17: 5,493,556	R37L	probably benign	Het
Zfp512b	G	A	2: 181,588,436	T499I	probably damaging	Het
Zmym2	A	T	14: 56,920,730	K575N	probably benign	Het

Other mutations in Olfr119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02209:Olfr119	APN	17	37700992	missense	probably damaging	1.00
IGL03339:Olfr119	APN	17	37700791	missense	probably damaging	0.99
R0092:Olfr119	UTSW	17	37700805	missense	probably damaging	0.98
R0207:Olfr119	UTSW	17	37701058	nonsense	probably null
R0378:Olfr119	UTSW	17	37701041	missense	probably damaging	1.00
R0408:Olfr119	UTSW	17	37701299	missense	probably benign
R0483:Olfr119	UTSW	17	37701297	missense	probably benign	0.01
R1901:Olfr119	UTSW	17	37701421	missense	probably damaging	1.00
R1902:Olfr119	UTSW	17	37701421	missense	probably damaging	1.00
R2845:Olfr119	UTSW	17	37700823	missense	probably damaging	1.00
R2846:Olfr119	UTSW	17	37700823	missense	probably damaging	1.00
R4356:Olfr119	UTSW	17	37700899	missense	probably damaging	0.97
R4381:Olfr119	UTSW	17	37700899	missense	probably damaging	0.97
R6744:Olfr119	UTSW	17	37701445	nonsense	probably null
R7674:Olfr119	UTSW	17	37700682	missense	probably benign	0.03
R7677:Olfr119	UTSW	17	37701066	missense	probably damaging	1.00
R7994:Olfr119	UTSW	17	37701435	missense	probably damaging	0.99
R8305:Olfr119	UTSW	17	37701498	missense	probably benign	0.10
R8512:Olfr119	UTSW	17	37701180	missense	probably damaging	1.00
R9300:Olfr119	UTSW	17	37700924	missense	probably damaging	1.00
R9760:Olfr119	UTSW	17	37701543	missense	probably damaging	1.00
Z1177:Olfr119	UTSW	17	37701053	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGTCTCTCCTGGAGATTGGCTACAC -3'
(R):5'- AGATATGCAGAGAACTGCTGCCAC -3'

Sequencing Primer
(F):5'- AGATTGGCTACACTTGCTCTG -3'
(R):5'- CACAAAAATTGCAGCCTCATTTTGG -3'

Posted On

2014-04-24