Mutagenetix > Incidental Mutations

Incidental Mutation 'R5512:Olfr1287'

440073

Institutional Source

Beutler Lab

Gene Symbol

Olfr1287

Ensembl Gene

ENSMUSG00000095586

Gene Name

olfactory receptor 1287

Synonyms

MOR248-15, GA_x6K02T2Q125-72500603-72501520

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111449142-111450059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111449754 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 205 (V205I)

Ref Sequence

ENSEMBL: ENSMUSP00000074850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075390]

Predicted Effect

probably benign
Transcript: ENSMUST00000075390
AA Change: V205I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074850
Gene: ENSMUSG00000095586
AA Change: V205I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	6.7e-48	PFAM
Pfam:7tm_1	41	287	9.5e-20	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,350,660	V364A	possibly damaging	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Adgre5	T	C	8: 83,729,086	N198D	probably benign	Het
Adgrf4	G	T	17: 42,667,285	T389K	probably benign	Het
Apc	T	A	18: 34,310,909		probably benign	Het
Appl2	T	A	10: 83,605,818	I524F	probably damaging	Het
Arhgef37	G	A	18: 61,499,774	Q531*	probably null	Het
Atp7b	T	C	8: 22,012,739	T694A	probably benign	Het
Cacna1g	T	A	11: 94,444,142	I780F	probably damaging	Het
Calcoco2	T	C	11: 96,103,336	K95E	probably damaging	Het
Cars	T	C	7: 143,570,133	D388G	possibly damaging	Het
Ccdc150	A	C	1: 54,354,647	E690A	probably damaging	Het
Cdc73	G	T	1: 143,702,616	D3E	probably damaging	Het
Cdh23	C	A	10: 60,534,386		probably null	Het
Cep170b	T	C	12: 112,733,485	S143P	possibly damaging	Het
Cherp	T	C	8: 72,463,266	I607V	possibly damaging	Het
CN725425	T	A	15: 91,240,756	H166Q	probably benign	Het
Dcaf6	A	G	1: 165,399,835	V241A	possibly damaging	Het
Dot1l	C	T	10: 80,788,991	P881S	possibly damaging	Het
Dsg1c	A	T	18: 20,272,511	N327I	probably damaging	Het
Fam208b	A	T	13: 3,595,517	Y111N	probably damaging	Het
Fbxw7	G	A	3: 84,954,909	R182H	probably damaging	Het
Fkbp1b	A	T	12: 4,838,183	V24E	probably benign	Het
Fut11	T	C	14: 20,696,001	S304P	probably damaging	Het
Ggt1	C	T	10: 75,584,884	T361I	probably damaging	Het
Gimap7	G	T	6: 48,723,596	A39S	probably benign	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Gm17541	G	T	12: 4,689,452		probably benign	Het
Gmip	T	A	8: 69,817,890	V750E	probably benign	Het
Gna14	A	G	19: 16,608,128	E290G	probably benign	Het
Gpnmb	T	C	6: 49,045,464	V176A	possibly damaging	Het
Hhla1	T	C	15: 65,924,016	K447R	probably benign	Het
Hsd3b1	A	G	3: 98,853,205	Y157H	probably benign	Het
Iqgap2	G	A	13: 95,675,376	Q706*	probably null	Het
Krt222	A	C	11: 99,234,955	S283R	probably damaging	Het
Ldb2	G	A	5: 44,480,244	R241W	probably damaging	Het
Lrrc8d	C	G	5: 105,812,784	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,812,785	E354K	probably benign	Het
Masp2	A	T	4: 148,614,069	I536F	probably damaging	Het
Mptx1	A	G	1: 174,332,749	D207G	probably benign	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Napsa	A	G	7: 44,572,616	M1V	probably null	Het
Ncam1	A	T	9: 49,509,699		probably null	Het
Nckap5	G	A	1: 126,027,744	P425L	possibly damaging	Het
Nol8	A	G	13: 49,676,787	S1116G	probably benign	Het
Nrde2	G	T	12: 100,142,250	Q361K	probably benign	Het
Nudt13	G	A	14: 20,307,732	G133D	probably damaging	Het
Ofcc1	G	T	13: 40,206,810	Q248K	probably benign	Het
Olfm4	A	G	14: 80,021,347	D345G	probably benign	Het
Olfr720	C	A	14: 14,175,633	G150C	probably damaging	Het
Osbpl3	T	G	6: 50,309,360	K659N	probably damaging	Het
Pdk2	G	A	11: 95,039,466	T48M	probably damaging	Het
Phf11a	A	T	14: 59,287,550	D68E	probably benign	Het
Prrxl1	A	G	14: 32,600,044	H5R	probably damaging	Het
Purb	A	G	11: 6,475,702	V62A	probably damaging	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,261,049		probably benign	Het
Rtl1	C	T	12: 109,591,371	E1345K	unknown	Het
Sema3e	G	A	5: 14,230,180	A358T	probably damaging	Het
Slc29a2	A	G	19: 5,026,398	I105V	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc6a5	G	A	7: 49,941,825	V513I	probably damaging	Het
Slco4a1	T	A	2: 180,474,114	F681Y	possibly damaging	Het
Sp1	A	G	15: 102,431,010	N775S	possibly damaging	Het
Sspo	T	A	6: 48,455,671	V827D	probably damaging	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tars2	A	T	3: 95,750,416	C238S	probably damaging	Het
Tnks1bp1	C	A	2: 85,062,834	P373Q	probably benign	Het
Tnpo3	A	G	6: 29,575,046	L373P	probably damaging	Het
Unc45b	A	C	11: 82,915,072	D135A	possibly damaging	Het
Vmn1r235	A	T	17: 21,261,415	M1L	probably benign	Het
Vmn2r66	T	C	7: 85,007,941	I85M	probably damaging	Het
Vmn2r80	T	G	10: 79,168,232	L93W	probably benign	Het
Vwf	G	T	6: 125,673,887		probably benign	Het
Ythdf3	A	G	3: 16,183,922	R9G	probably damaging	Het
Zfp229	A	G	17: 21,745,036		probably null	Het
Zfp958	A	C	8: 4,625,838		probably null	Het

Other mutations in Olfr1287

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Olfr1287	APN	2	111449889	missense	probably benign	0.13
IGL01748:Olfr1287	APN	2	111449530	missense	probably damaging	1.00
IGL02264:Olfr1287	APN	2	111449862	missense	probably benign	0.05
IGL02371:Olfr1287	APN	2	111450009	missense	probably damaging	1.00
IGL02385:Olfr1287	APN	2	111449350	missense	probably damaging	1.00
IGL02704:Olfr1287	APN	2	111449147	missense	probably benign	0.00
R0368:Olfr1287	UTSW	2	111449788	missense	probably benign	0.07
R1520:Olfr1287	UTSW	2	111449274	missense	probably benign	0.00
R2036:Olfr1287	UTSW	2	111449626	missense	possibly damaging	0.80
R2890:Olfr1287	UTSW	2	111449289	missense	probably benign	0.12
R3757:Olfr1287	UTSW	2	111449257	missense	possibly damaging	0.95
R3801:Olfr1287	UTSW	2	111449565	missense	probably benign	0.07
R3958:Olfr1287	UTSW	2	111449885	missense	possibly damaging	0.50
R4077:Olfr1287	UTSW	2	111449503	missense	probably damaging	0.99
R4763:Olfr1287	UTSW	2	111449678	nonsense	probably null
R4955:Olfr1287	UTSW	2	111449605	missense	probably damaging	1.00
R4975:Olfr1287	UTSW	2	111449683	missense	probably benign	0.16
R5046:Olfr1287	UTSW	2	111449589	missense	probably benign	0.01
R5708:Olfr1287	UTSW	2	111450009	missense	probably damaging	1.00
R5771:Olfr1287	UTSW	2	111450061	splice site	probably null
R5780:Olfr1287	UTSW	2	111449833	missense	probably benign	0.03
R6981:Olfr1287	UTSW	2	111449352	missense	probably benign	0.00
R7073:Olfr1287	UTSW	2	111449286	missense	probably benign	0.22
R7633:Olfr1287	UTSW	2	111449622	missense	probably benign
R7963:Olfr1287	UTSW	2	111449626	missense	possibly damaging	0.80
R8121:Olfr1287	UTSW	2	111449160	missense	probably benign	0.20
RF037:Olfr1287	UTSW	2	111449551	missense	not run
RF039:Olfr1287	UTSW	2	111449551	missense	not run
Z1088:Olfr1287	UTSW	2	111449457	missense	probably benign	0.02
Z1176:Olfr1287	UTSW	2	111449784	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CATCATGGGCAGACAGAAGTGC -3'
(R):5'- AACCCAGGTGATGCTAACTGG -3'

Sequencing Primer
(F):5'- CAGAAGTGCATCTGGCTTGTTG -3'
(R):5'- TGCTAACTGGACACAGATAGATG -3'

Posted On

2016-11-08