Mutagenetix > Incidental Mutations

Incidental Mutation 'R4946:Olfr1289'

383391

Institutional Source

Beutler Lab

Gene Symbol

Olfr1289

Ensembl Gene

ENSMUSG00000061195

Gene Name

olfactory receptor 1289

Synonyms

GA_x6K02T2Q125-72534883-72535821, MOR245-6

MMRRC Submission

042543-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R4946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111480819-111484615 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111483966 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 207 (Y207H)

Ref Sequence

ENSEMBL: ENSMUSP00000146801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102551] [ENSMUST00000104889] [ENSMUST00000120021] [ENSMUST00000207494] [ENSMUST00000214816] [ENSMUST00000217611]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102551
AA Change: Y179H

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: Y179H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	17	289	6e-45	PFAM
Pfam:7TM_GPCR_Srsx	20	288	1.4e-7	PFAM
Pfam:7tm_1	27	273	7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104889

SMART Domains

Protein: ENSMUSP00000100485
Gene: ENSMUSG00000044039

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.3e-43	PFAM
Pfam:7tm_1	41	287	2.5e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120021
AA Change: Y207H

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207494
AA Change: Y179H

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000214816

Predicted Effect

probably benign
Transcript: ENSMUST00000217611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225425

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,086,474	D98G	probably damaging	Het
Adgre1	G	A	17: 57,443,918	V531I	probably benign	Het
Aldoart2	A	G	12: 55,566,016	Q242R	probably benign	Het
Ank2	A	T	3: 126,941,940		probably benign	Het
Ank3	C	T	10: 69,898,117	A737V	probably damaging	Het
Ankle2	A	G	5: 110,253,838	I789V	probably benign	Het
Ankrd13c	T	C	3: 158,005,773	V510A	probably damaging	Het
Arid1b	T	A	17: 5,342,843	M2216K	probably damaging	Het
Arrdc1	A	G	2: 24,925,848	V380A	probably benign	Het
B3galt1	C	A	2: 68,118,569	N209K	possibly damaging	Het
Cd300c2	A	T	11: 114,996,905	C224S	probably benign	Het
Cdk4	T	C	10: 127,064,890		probably null	Het
Cdk5rap1	T	C	2: 154,368,874	T115A	possibly damaging	Het
Clvs1	A	T	4: 9,281,831	R92*	probably null	Het
Cnga1	A	G	5: 72,604,764	V469A	probably damaging	Het
Ctns	A	G	11: 73,196,653	F16L	probably benign	Het
Dlg5	A	T	14: 24,154,361	C1299S	probably damaging	Het
Dnah3	T	A	7: 119,931,560	Y3690F	probably damaging	Het
Dnah5	A	G	15: 28,326,557	M1971V	probably damaging	Het
Dnah5	G	A	15: 28,387,904	V3170M	probably damaging	Het
Dpp8	T	C	9: 65,055,918	Y485H	probably benign	Het
Dsc2	T	C	18: 20,050,157	D68G	probably damaging	Het
Elavl1	A	T	8: 4,301,752	D121E	probably benign	Het
Ermap	A	G	4: 119,183,308	V311A	probably damaging	Het
Fam102b	A	G	3: 108,980,228	V240A	probably benign	Het
Fbxw11	C	T	11: 32,739,226	R437C	probably damaging	Het
Gas2l3	T	C	10: 89,413,772	M495V	probably benign	Het
Hacd1	C	T	2: 14,045,137		probably null	Het
Itgav	A	G	2: 83,788,983	R596G	probably benign	Het
Kars	T	C	8: 112,001,720	H215R	possibly damaging	Het
Kif26a	G	A	12: 112,177,794	R1494H	probably damaging	Het
Klf12	G	A	14: 100,022,957	S112L	possibly damaging	Het
Krt77	T	C	15: 101,869,563	Y19C	unknown	Het
Lrrc4c	A	G	2: 97,630,489	T487A	probably benign	Het
Lrrn1	A	G	6: 107,568,890	M550V	probably benign	Het
Lsr	C	A	7: 30,958,209	R442L	probably benign	Het
Lysmd2	A	C	9: 75,635,446	T112P	probably damaging	Het
Mctp2	A	T	7: 72,259,269	S99T	probably benign	Het
Mettl4	A	G	17: 94,740,532	V227A	probably benign	Het
Mill2	T	A	7: 18,856,683		probably null	Het
Mpp3	T	C	11: 102,005,022	N476D	probably benign	Het
Mtmr6	C	T	14: 60,280,189	P83L	possibly damaging	Het
Myh3	T	C	11: 67,093,538	I1067T	probably benign	Het
Myh9	C	A	15: 77,773,340	Q1068H	probably damaging	Het
Narf	T	A	11: 121,250,353	H304Q	possibly damaging	Het
Nfatc2ip	G	T	7: 126,396,612	P35Q	possibly damaging	Het
Npas3	C	A	12: 54,065,835	P426Q	probably damaging	Het
Olfr1508	G	A	14: 52,463,283	T242I	probably damaging	Het
Olfr432	T	G	1: 174,050,834	S154A	possibly damaging	Het
Olfr467	A	G	7: 107,815,382	H266R	possibly damaging	Het
Olfr640	T	A	7: 104,022,012	Q102L	probably damaging	Het
Pcdh10	A	T	3: 45,379,482	E77V	probably damaging	Het
Pcnt	C	T	10: 76,356,185	R2764Q	probably damaging	Het
Pgbd5	T	C	8: 124,370,585	D493G	possibly damaging	Het
Piezo2	G	T	18: 63,157,262	T142N	probably benign	Het
Plcb1	A	G	2: 135,345,095	I761V	probably benign	Het
Plekhg4	T	G	8: 105,381,996	D1196E	probably null	Het
Pparg	A	G	6: 115,451,028	K159E	probably damaging	Het
Psmb1	A	T	17: 15,498,216	M16K	probably benign	Het
Ptprq	T	C	10: 107,525,734	I2139V	probably benign	Het
Ralgapb	T	A	2: 158,440,967	S239T	probably damaging	Het
Serpina11	A	G	12: 103,984,664	V266A	probably damaging	Het
Sf3a2	C	G	10: 80,804,113		probably benign	Het
Smim18	T	C	8: 33,742,559	T11A	possibly damaging	Het
Snx6	G	A	12: 54,770,743	T7I	probably damaging	Het
Srcin1	T	A	11: 97,551,942	D75V	probably damaging	Het
Srsf12	T	A	4: 33,231,174	S223T	probably damaging	Het
Taf4b	G	T	18: 14,813,542	C474F	probably damaging	Het
Tango6	T	A	8: 106,718,090	C542*	probably null	Het
Tbc1d24	A	G	17: 24,208,536	S151P	possibly damaging	Het
Tssk6	T	C	8: 69,903,064	S253P	probably benign	Het
Ttc39c	G	A	18: 12,724,942	W300*	probably null	Het
Ttc6	T	A	12: 57,643,140	W539R	probably benign	Het
Ttn	C	A	2: 76,918,709	E3999*	probably null	Het
Ttn	T	C	2: 76,752,426	T22708A	probably damaging	Het
Vill	T	G	9: 119,068,440	L261R	probably damaging	Het
Vmn1r20	T	C	6: 57,432,174	S162P	probably damaging	Het
Zfp516	T	C	18: 82,956,094	I139T	probably benign	Het

Other mutations in Olfr1289

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Olfr1289	APN	2	111484101	missense	probably damaging	1.00
IGL01682:Olfr1289	APN	2	111483843	missense	probably damaging	1.00
IGL02028:Olfr1289	APN	2	111483471	missense	probably benign	0.01
IGL02731:Olfr1289	APN	2	111483528	missense	probably benign	0.00
IGL03035:Olfr1289	APN	2	111483823	missense	probably benign	0.04
R1214:Olfr1289	UTSW	2	111483892	missense	probably damaging	1.00
R1471:Olfr1289	UTSW	2	111484006	missense	probably damaging	1.00
R1714:Olfr1289	UTSW	2	111483663	missense	probably damaging	1.00
R2088:Olfr1289	UTSW	2	111484278	missense	probably damaging	1.00
R2136:Olfr1289	UTSW	2	111483616	missense	probably damaging	1.00
R2141:Olfr1289	UTSW	2	111483630	missense	probably benign	0.23
R3945:Olfr1289	UTSW	2	111483687	nonsense	probably null
R4276:Olfr1289	UTSW	2	111483504	missense	probably damaging	1.00
R4562:Olfr1289	UTSW	2	111483564	missense	probably benign	0.00
R4896:Olfr1289	UTSW	2	111483660	missense	possibly damaging	0.82
R5004:Olfr1289	UTSW	2	111483660	missense	possibly damaging	0.82
R5686:Olfr1289	UTSW	2	111484143	missense	probably damaging	1.00
R6032:Olfr1289	UTSW	2	111483850	missense	probably damaging	1.00
R6032:Olfr1289	UTSW	2	111483850	missense	probably damaging	1.00
R6960:Olfr1289	UTSW	2	111483726	missense	possibly damaging	0.70
R7293:Olfr1289	UTSW	2	111483354	splice site	probably null
R7642:Olfr1289	UTSW	2	111483478	missense	probably damaging	0.96
R8429:Olfr1289	UTSW	2	111483495	missense	possibly damaging	0.55
R8447:Olfr1289	UTSW	2	111483756	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTACAGTTATGCGTGGCAATG -3'
(R):5'- TGACTTGATGGGAAAGGGCC -3'

Sequencing Primer
(F):5'- ACAGTTATGCGTGGCAATGTATGTG -3'
(R):5'- GCATAAATGAAGATGCAAGGTCC -3'

Posted On

2016-04-27