Mutagenetix > Incidental Mutations

Incidental Mutation 'R5686:Olfr1289'

443337

Institutional Source

Beutler Lab

Gene Symbol

Olfr1289

Ensembl Gene

ENSMUSG00000061195

Gene Name

olfactory receptor 1289

Synonyms

GA_x6K02T2Q125-72534883-72535821, MOR245-6

MMRRC Submission

043319-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111480819-111484615 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111484143 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 238 (G238R)

Ref Sequence

ENSEMBL: ENSMUSP00000147119 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102551
AA Change: G238R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: G238R

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

probably damaging
Transcript: ENSMUST00000120021
AA Change: G266R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207494
AA Change: G238R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000214816

Predicted Effect

probably benign
Transcript: ENSMUST00000217611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225425

Meta Mutation Damage Score

0.8109

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,303,314	E839G	possibly damaging	Het
2410141K09Rik	T	C	13: 66,431,663	R254G	probably benign	Het
4932438A13Rik	T	A	3: 36,917,660	F514Y	probably benign	Het
Adgrf3	T	A	5: 30,197,306	T575S	probably damaging	Het
Akap9	T	A	5: 3,971,926	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,726,633	F926L	probably damaging	Het
BC035947	G	T	1: 78,497,930	T655K	probably benign	Het
Bcas1	T	C	2: 170,406,810	T64A	probably benign	Het
Brca2	A	G	5: 150,540,904	K1378E	probably benign	Het
Card6	A	T	15: 5,100,953	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,138,060	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,790,164	S212P	probably damaging	Het
Cdh8	T	C	8: 99,033,222	I632V	probably benign	Het
Col25a1	A	G	3: 130,564,154	E477G	probably damaging	Het
Cpne5	A	T	17: 29,184,017	C215S	possibly damaging	Het
Crim1	T	A	17: 78,374,083	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,616,404	N340K	probably benign	Het
Eif4e2	G	A	1: 87,226,238		probably null	Het
Ephb6	G	T	6: 41,619,704	R895L	possibly damaging	Het
Esrrg	T	A	1: 188,150,198	H217Q	probably benign	Het
Fgl1	T	A	8: 41,200,557	K100*	probably null	Het
Flt4	T	C	11: 49,630,603	V450A	probably benign	Het
G6pc2	A	T	2: 69,220,784	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684	M336T	probably damaging	Het
Gli1	T	A	10: 127,337,436	T118S	probably benign	Het
Gm5435	A	T	12: 82,496,026		noncoding transcript	Het
Got1l1	A	G	8: 27,198,059	L314P	probably damaging	Het
Hk3	T	A	13: 55,006,813	I740F	probably damaging	Het
Htr7	C	A	19: 35,969,871	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,324,179	T508A	probably damaging	Het
Il16	T	A	7: 83,648,728	N431I	probably benign	Het
Lax1	G	A	1: 133,680,176	P276S	probably damaging	Het
Lrp2	A	T	2: 69,511,061	V925E	possibly damaging	Het
Lrp3	T	A	7: 35,203,485	T479S	possibly damaging	Het
Metrn	G	A	17: 25,795,217	R212C	probably damaging	Het
Mlip	A	C	9: 77,347,693		probably null	Het
Mmp24	C	T	2: 155,799,777	T175I	probably damaging	Het
N6amt1	A	T	16: 87,354,335	D28V	probably damaging	Het
Olfr215	T	C	6: 116,582,929	T6A	probably benign	Het
Olfr380	A	T	11: 73,453,851	Y120*	probably null	Het
Olfr472	A	G	7: 107,902,912	H65R	probably damaging	Het
Olfr490	G	T	7: 108,286,742	A128E	probably damaging	Het
Olfr870	T	A	9: 20,170,969	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,532,993	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,151,428	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,425,237	L323P	probably damaging	Het
Psg21	G	T	7: 18,652,258		probably benign	Het
Rest	T	C	5: 77,281,726	V664A	probably benign	Het
Sco2	G	A	15: 89,371,972	R160*	probably null	Het
Sfswap	T	A	5: 129,514,818	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,678,566	M329K	probably benign	Het
Slco1a5	G	A	6: 142,236,307	P564S	probably damaging	Het
Stk38	A	G	17: 28,982,129	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 84,079,602	T441M	possibly damaging	Het
Tg	T	A	15: 66,688,889	N1033K	probably benign	Het
Thoc3	A	T	13: 54,467,873	I126N	probably damaging	Het
Tnc	T	C	4: 64,007,730		probably null	Het
Tnc	A	T	4: 64,008,795	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,211,218	V100E	probably damaging	Het
Usp43	G	A	11: 67,921,916		probably benign	Het
Vmn2r90	A	T	17: 17,713,450	Y424F	probably benign	Het
Vps33a	C	T	5: 123,547,001		probably null	Het
Xirp2	A	T	2: 67,482,298	K37I	probably damaging	Het
Zfp106	A	T	2: 120,533,507		probably null	Het
Zfp748	A	T	13: 67,542,528	C204*	probably null	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
R4946:Olfr1289	UTSW	2	111483966	missense	possibly damaging	0.93
R5004:Olfr1289	UTSW	2	111483660	missense	possibly damaging	0.82
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'- AGAGTAATCAAACTTGCCTGTGC -3'
(R):5'- CTACAGGAGATCTAAGACTTCACCC -3'

Sequencing Primer
(F):5'- TGCCTGTGCAGAGACATATAG -3'
(R):5'- CCCAAAAGCTTAAATTCCATTGTCTC -3'

Posted On

2016-11-09