Mutagenetix > Incidental Mutation

Incidental Mutation 'R1934:Olfr539'

215677

Institutional Source

Beutler Lab

Gene Symbol

Olfr539

Ensembl Gene

ENSMUSG00000059136

Gene Name

olfactory receptor 539

Synonyms

MOR253-4, GA_x6K02T2PBJ9-42813436-42814368

MMRRC Submission

039952-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R1934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140659930-140678580 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 140668038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 243 (C243*)

Ref Sequence

ENSEMBL: ENSMUSP00000151522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078967] [ENSMUST00000210973] [ENSMUST00000218865]

AlphaFold

Q8VGL9

Predicted Effect

probably null
Transcript: ENSMUST00000078967
AA Change: C250*

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: C250*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	316	6.5e-50	PFAM
Pfam:7tm_1	50	299	4.9e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210973
AA Change: C243*

Predicted Effect

probably null
Transcript: ENSMUST00000218865
AA Change: C243*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219853

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,649,833	L548P	probably damaging	Het
Abca6	A	G	11: 110,210,083		probably null	Het
Abcb5	A	G	12: 118,907,500		probably null	Het
Acacb	G	A	5: 114,198,282	A686T	probably benign	Het
Acot6	T	C	12: 84,106,593	V203A	probably benign	Het
Adam25	A	T	8: 40,754,885	Y396F	probably benign	Het
Adamts9	A	G	6: 92,943,121	L12P	possibly damaging	Het
Adamtsl2	A	T	2: 27,089,593	D258V	probably damaging	Het
Aox4	G	A	1: 58,245,936	V616I	probably benign	Het
Ap1m1	A	G	8: 72,255,793	I382V	probably damaging	Het
Arhgef2	G	A	3: 88,629,791	R8Q	probably damaging	Het
Arhgef37	T	G	18: 61,523,943	E17A	probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Arih1	T	C	9: 59,394,932	D431G	probably damaging	Het
Astn2	C	T	4: 65,435,189	V1115M	probably damaging	Het
Atg7	T	A	6: 114,701,235	M280K	probably damaging	Het
Birc3	T	C	9: 7,854,499	T397A	possibly damaging	Het
Ccdc110	A	G	8: 45,943,250	N726S	probably damaging	Het
Cdadc1	A	T	14: 59,589,860	S121T	possibly damaging	Het
Cdh16	A	G	8: 104,617,963	V7A	possibly damaging	Het
Cenpb	A	G	2: 131,179,264	S205P	probably benign	Het
Chsy1	T	C	7: 66,172,243	V742A	probably damaging	Het
Col12a1	G	A	9: 79,604,522	R133*	probably null	Het
Col18a1	A	C	10: 77,112,744	S311R	possibly damaging	Het
Col9a3	G	A	2: 180,607,134	V260M	probably damaging	Het
Coq2	T	A	5: 100,661,865	R17S	probably damaging	Het
Ctf1	A	G	7: 127,712,764	R4G	probably damaging	Het
Cwc27	T	C	13: 104,631,676	D437G	probably benign	Het
Cyp4f14	T	C	17: 32,906,315	N430D	probably damaging	Het
Dars2	A	G	1: 161,063,241		probably null	Het
Dgkz	A	T	2: 91,937,104	M848K	possibly damaging	Het
Dnhd1	T	G	7: 105,708,582	V3208G	probably benign	Het
Dsg1b	A	G	18: 20,395,906	Y233C	probably damaging	Het
Edem3	A	T	1: 151,804,283	D460V	probably damaging	Het
Ednra	A	G	8: 77,689,118	S167P	possibly damaging	Het
Eif3m	A	T	2: 105,001,279	V180D	probably damaging	Het
Fam217a	T	A	13: 34,910,881	R207S	probably damaging	Het
Fcgbp	G	A	7: 28,107,093	G2162D	probably damaging	Het
Fhod3	A	T	18: 25,090,278	I894F	probably benign	Het
Fpgs	A	T	2: 32,687,981	I143N	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,890	S70P	probably benign	Het
Frs2	T	C	10: 117,078,901	M38V	probably damaging	Het
Fsip2	A	G	2: 82,980,558	N2407S	possibly damaging	Het
Gabrg2	T	A	11: 41,920,470	T283S	probably benign	Het
Gas2l1	T	A	11: 5,061,408	T474S	probably benign	Het
Gli1	A	T	10: 127,331,239	M715K	possibly damaging	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm5800	T	A	14: 51,711,939	N183I	possibly damaging	Het
Gm8674	T	A	13: 49,901,435		noncoding transcript	Het
Gnat3	A	T	5: 18,019,510	I303F	possibly damaging	Het
Grin2d	C	T	7: 45,856,827	V547M	probably damaging	Het
Grpr	C	A	X: 163,549,141	V53L	probably benign	Het
Heatr5b	T	C	17: 78,795,918	I1169V	possibly damaging	Het
Icam5	A	G	9: 21,034,786	T305A	probably benign	Het
Itga11	T	A	9: 62,744,514	N309K	probably damaging	Het
Itgb6	T	C	2: 60,669,149	D100G	probably benign	Het
Kdm3b	A	G	18: 34,813,544	K862R	probably benign	Het
Kif7	T	C	7: 79,711,538	D135G	probably benign	Het
Lrp4	A	G	2: 91,480,432	D606G	probably damaging	Het
Lrrtm1	A	T	6: 77,244,966		probably null	Het
Metap1d	A	T	2: 71,522,583	H252L	possibly damaging	Het
Mfhas1	A	G	8: 35,591,097	K909E	possibly damaging	Het
Mrgprh	C	T	17: 12,876,951	T26I	probably damaging	Het
Myo15b	T	C	11: 115,863,484	S937P	probably benign	Het
Neto2	A	T	8: 85,670,404	I73N	possibly damaging	Het
Nod2	T	C	8: 88,663,719	I196T	probably benign	Het
Nvl	T	G	1: 181,099,128	T788P	probably damaging	Het
Olfr90	A	T	17: 37,086,014	D50E	possibly damaging	Het
Pax3	G	A	1: 78,103,480	T423I	possibly damaging	Het
Pde4dip	A	G	3: 97,692,691	V2403A	possibly damaging	Het
Phip	C	T	9: 82,903,182	V827I	probably benign	Het
Plcb3	A	G	19: 6,964,609	F285L	probably damaging	Het
Pnp2	A	G	14: 50,956,218	I16V	probably benign	Het
Pola2	A	G	19: 5,953,741	L202P	probably damaging	Het
Ppfia1	A	T	7: 144,505,110	N651K	probably benign	Het
Prss53	T	C	7: 127,886,748		probably null	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Rasgrf2	A	T	13: 91,983,706		probably null	Het
Rccd1	T	A	7: 80,320,524	N115I	possibly damaging	Het
Rpgrip1	A	T	14: 52,114,644	T26S	possibly damaging	Het
Rpn1	T	A	6: 88,093,859	V237E	probably damaging	Het
Sema4f	G	T	6: 82,930,927	P180Q	probably damaging	Het
Slc36a4	T	C	9: 15,720,789	V87A	probably damaging	Het
Slc5a4b	A	T	10: 76,081,473	V243E	possibly damaging	Het
Sos2	T	G	12: 69,648,541	I141L	probably damaging	Het
Srbd1	A	G	17: 86,102,893	V537A	probably damaging	Het
Sugp1	A	G	8: 70,056,575	E166G	possibly damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tshr	T	C	12: 91,537,181	S298P	probably damaging	Het
Tspan14	T	C	14: 40,934,252	Y6C	probably damaging	Het
Ttn	A	T	2: 76,747,040	V24503E	probably damaging	Het
Vcan	T	A	13: 89,702,926	N1305I	probably damaging	Het
Vmn2r81	A	G	10: 79,247,794	M1V	probably null	Het
Vps39	A	T	2: 120,318,077	V873E	probably damaging	Het
Vstm2a	A	T	11: 16,409,734	D270V	unknown	Het
Wdr24	A	T	17: 25,824,266	M21L	possibly damaging	Het
Wee1	A	G	7: 110,122,491	T48A	probably benign	Het
Zfp369	T	C	13: 65,297,151	C703R	probably damaging	Het
Zfp532	A	T	18: 65,685,611	D1114V	probably damaging	Het
Zfp758	A	G	17: 22,373,652	T46A	probably damaging	Het

Other mutations in Olfr539

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Olfr539	APN	7	140667941	missense	probably benign	0.01
IGL01610:Olfr539	APN	7	140667671	missense	probably damaging	1.00
IGL02959:Olfr539	APN	7	140667550	missense	probably damaging	1.00
IGL03406:Olfr539	APN	7	140667511	missense	probably damaging	1.00
R0671:Olfr539	UTSW	7	140667677	missense	probably damaging	1.00
R1771:Olfr539	UTSW	7	140668135	missense	probably benign
R1985:Olfr539	UTSW	7	140667821	missense	probably damaging	1.00
R2962:Olfr539	UTSW	7	140667949	missense	probably benign
R4239:Olfr539	UTSW	7	140667583	missense	probably benign	0.07
R4240:Olfr539	UTSW	7	140667583	missense	probably benign	0.07
R4360:Olfr539	UTSW	7	140667817	missense	probably damaging	0.98
R4841:Olfr539	UTSW	7	140667589	missense	probably damaging	1.00
R4842:Olfr539	UTSW	7	140667589	missense	probably damaging	1.00
R4851:Olfr539	UTSW	7	140667313	missense	probably benign
R5325:Olfr539	UTSW	7	140667792	missense	probably benign	0.33
R5766:Olfr539	UTSW	7	140667353	missense	probably benign	0.02
R6363:Olfr539	UTSW	7	140668082	missense	possibly damaging	0.93
R6836:Olfr539	UTSW	7	140668180	missense	possibly damaging	0.86
R7777:Olfr539	UTSW	7	140667941	missense	probably benign	0.01
R7920:Olfr539	UTSW	7	140667901	missense	possibly damaging	0.92
R8134:Olfr539	UTSW	7	140667767	missense	possibly damaging	0.90
R8712:Olfr539	UTSW	7	140668139	missense	possibly damaging	0.89
R9095:Olfr539	UTSW	7	140667900	missense	probably damaging	1.00
R9158:Olfr539	UTSW	7	140667634	missense	possibly damaging	0.76
R9603:Olfr539	UTSW	7	140667881	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGTCCCAAGGTTATCACC -3'
(R):5'- CCAAGGCAAGCTTGACATCC -3'

Sequencing Primer
(F):5'- AGGTTATCACCCACTTCTTCTGTGAG -3'
(R):5'- AAGGCAAGCTTGACATCCTTGTTC -3'

Posted On

2014-07-14