Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Olfr1234'

564245

Institutional Source

Beutler Lab

Gene Symbol

Olfr1234

Ensembl Gene

ENSMUSG00000075090

Gene Name

olfactory receptor 1234

Synonyms

MOR231-2, GA_x6K02T2Q125-50805620-50804676

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89360013-89364865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89362494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 312 (Y312N)

Ref Sequence

ENSEMBL: ENSMUSP00000107168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099783] [ENSMUST00000111543] [ENSMUST00000137692]

AlphaFold

A2AVK5

Predicted Effect

probably benign
Transcript: ENSMUST00000099783
AA Change: Y312N

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097371
Gene: ENSMUSG00000075090
AA Change: Y312N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	5.9e-32	PFAM
Pfam:7tm_4	137	278	1.5e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111543
AA Change: Y312N

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107168
Gene: ENSMUSG00000075090
AA Change: Y312N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.2e-46	PFAM
Pfam:7tm_1	39	285	7.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137692
AA Change: Y312N

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,863,035	Y790H	probably damaging	Het
Bend3	A	C	10: 43,493,671	S7R	probably benign	Het
Ccdc106	A	G	7: 5,060,326	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,556,001	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,311,867	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cecr2	T	C	6: 120,762,529	S1406P	probably benign	Het
Cep290	A	G	10: 100,546,498	T208A	probably damaging	Het
Cep85l	A	C	10: 53,296,255	C569W	probably damaging	Het
Ces5a	G	A	8: 93,499,526	T527I	probably benign	Het
Clca2	T	A	3: 145,090,847	I200F	probably damaging	Het
Cmas	G	A	6: 142,770,586	D251N	probably damaging	Het
Ctcfl	G	T	2: 173,118,475	A105E	probably benign	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dctn6	A	T	8: 34,090,808	I170N	probably damaging	Het
Dnah2	T	C	11: 69,431,094	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,591,931	V465I	possibly damaging	Het
Dzip1	T	C	14: 118,885,646	T646A	probably benign	Het
Etv4	T	A	11: 101,784,325		probably null	Het
Exoc3l2	T	C	7: 19,484,703	V549A	unknown	Het
Ficd	G	T	5: 113,738,819	A352S	probably damaging	Het
Fry	T	G	5: 150,466,786	I179S		Het
Galntl5	A	G	5: 25,195,300	H109R	probably benign	Het
Garem1	C	A	18: 21,148,754	G182W	probably damaging	Het
Gm10696	T	C	3: 94,176,360	E48G	probably benign	Het
Gm13078	T	A	4: 143,726,279	D93E	probably benign	Het
Gm5916	A	T	9: 36,120,989	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,479,201	F271I	probably benign	Het
Hivep2	G	T	10: 14,129,101	S481I	probably benign	Het
Homez	T	A	14: 54,857,420	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,319,896		probably null	Het
Igll1	A	G	16: 16,861,093	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,578,053		probably null	Het
Kif5b	A	G	18: 6,225,340	V230A	probably damaging	Het
Ldlr	T	A	9: 21,745,744	V719E	probably benign	Het
Lsm7	G	A	10: 80,853,731	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,892,238	D90E	probably benign	Het
Mmrn1	A	G	6: 60,976,114	K460E	probably damaging	Het
Myh10	A	C	11: 68,790,689	N1061H	probably damaging	Het
Nepn	A	G	10: 52,400,993	Q275R	probably benign	Het
Noc3l	A	T	19: 38,812,356	D227E	probably benign	Het
Nploc4	G	T	11: 120,428,550	S61R	probably benign	Het
Nr4a2	T	C	2: 57,112,369	Y24C	probably damaging	Het
Nup160	T	A	2: 90,723,355	I1143N	probably damaging	Het
Olfr1097	A	G	2: 86,890,612	S188P	probably damaging	Het
Olfr294	G	T	7: 86,615,665	H327N	probably benign	Het
Olfr895	T	A	9: 38,268,708	M57K	probably damaging	Het
Papola	T	A	12: 105,809,345	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgap1	A	T	1: 54,493,207		probably null	Het
Pitrm1	A	G	13: 6,556,597	H229R	probably damaging	Het
Plcl1	A	G	1: 55,698,218	Q906R	probably benign	Het
Ppfia3	T	C	7: 45,341,743	N1018S	probably benign	Het
Prkd1	A	G	12: 50,388,342	V534A	possibly damaging	Het
Pygm	A	T	19: 6,385,896	I126F	probably benign	Het
Rag1	T	C	2: 101,642,070	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 91,884,518	Q560*	probably null	Het
Rbp3	A	T	14: 33,962,583	I1190F	possibly damaging	Het
Reln	T	C	5: 21,978,923	K1693E	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsph3a	A	G	17: 7,946,170	T121A	probably benign	Het
Rufy3	A	G	5: 88,614,947	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,672,246	Q3548*	probably null	Het
Sardh	A	T	2: 27,218,812	V637D	probably benign	Het
Spata16	T	C	3: 26,667,867	V179A	probably benign	Het
Tbc1d30	G	A	10: 121,288,965	T319I	probably damaging	Het
Tlr2	T	A	3: 83,837,606	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,252,040		probably null	Het
Vmn1r113	T	A	7: 20,787,445	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,249,866	Y210S	probably damaging	Het
Zbbx	A	T	3: 75,039,898	H670Q	probably benign	Het

Other mutations in Olfr1234

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Olfr1234	APN	2	89362828	missense	probably damaging	0.97
R0945:Olfr1234	UTSW	2	89363255	missense	probably damaging	0.98
R1018:Olfr1234	UTSW	2	89363179	missense	possibly damaging	0.95
R1419:Olfr1234	UTSW	2	89363322	missense	probably damaging	1.00
R1872:Olfr1234	UTSW	2	89362589	missense	probably damaging	1.00
R1929:Olfr1234	UTSW	2	89363009	missense	probably benign	0.01
R2143:Olfr1234	UTSW	2	89363103	missense	probably damaging	1.00
R3499:Olfr1234	UTSW	2	89362950	missense	probably benign	0.07
R3776:Olfr1234	UTSW	2	89362764	missense	possibly damaging	0.69
R4595:Olfr1234	UTSW	2	89363325	missense	probably damaging	0.98
R6287:Olfr1234	UTSW	2	89363019	nonsense	probably null
R7516:Olfr1234	UTSW	2	89363375	missense	probably benign	0.01
R7636:Olfr1234	UTSW	2	89363239	nonsense	probably null
R7975:Olfr1234	UTSW	2	89363069	missense	probably benign	0.23
R8240:Olfr1234	UTSW	2	89362552	missense	probably benign	0.01
R8514:Olfr1234	UTSW	2	89363229	missense	probably benign	0.06
R8680:Olfr1234	UTSW	2	89362721	missense	probably benign	0.00
R8780:Olfr1234	UTSW	2	89363308	missense	probably damaging	1.00
R8898:Olfr1234	UTSW	2	89362613	missense	possibly damaging	0.56
R9402:Olfr1234	UTSW	2	89362779	nonsense	probably null
R9434:Olfr1234	UTSW	2	89363348	missense	probably benign	0.02
R9451:Olfr1234	UTSW	2	89362899	missense	probably damaging	1.00
R9632:Olfr1234	UTSW	2	89362721	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGGCATCTAGAAGTGTTAATATTGC -3'
(R):5'- GCATCTTTCTATATGCAAGGCCTAC -3'

Sequencing Primer
(F):5'- GTTAATATTGCTAACTACACTGAGGG -3'
(R):5'- TTCTATATGCAAGGCCTACATCCAC -3'

Posted On

2019-06-26