Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Olfr539'

669646

Institutional Source

Beutler Lab

Gene Symbol

Olfr539

Ensembl Gene

ENSMUSG00000059136

Gene Name

olfactory receptor 539

Synonyms

MOR253-4, GA_x6K02T2PBJ9-42813436-42814368

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140659930-140678580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140668139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 277 (S277L)

Ref Sequence

ENSEMBL: ENSMUSP00000151522 (fasta)

Gene Model

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

AlphaFold

Q8VGL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078967
AA Change: S284L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: S284L

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

possibly damaging
Transcript: ENSMUST00000218865
AA Change: S277L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,798,008	N617K	probably benign	Het
Adnp2	A	T	18: 80,130,970	C75S	probably damaging	Het
Agmo	T	C	12: 37,357,674	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,786,252	Y122C		Het
Ahnak2	T	C	12: 112,787,089	E71G		Het
Aldh5a1	A	G	13: 24,918,541	V313A	probably damaging	Het
Ankib1	C	A	5: 3,772,643	C21F	probably benign	Het
Aqr	A	G	2: 114,118,877	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,275,980	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,530,089	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,298,290	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,881,684	I113V	probably benign	Het
Catsper3	T	C	13: 55,805,844	M269T	probably benign	Het
Ccdc142	A	C	6: 83,102,252	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,933,755	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842		probably null	Het
Cebpz	A	G	17: 78,921,652	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,697	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,321,694		probably benign	Het
Ddx1	A	G	12: 13,243,858		probably benign	Het
Duox2	A	C	2: 122,289,345	Y867*	probably null	Het
Ereg	T	C	5: 91,089,154	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,518,950	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,952,377	R2H	unknown	Het
Galnt6	C	T	15: 100,694,620	V569I	probably benign	Het
Gm14226	G	A	2: 155,024,174	C17Y	unknown	Het
Gpr150	T	G	13: 76,056,523	D101A	probably damaging	Het
Grm1	A	T	10: 10,689,552	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 88,714,923	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,415,210	V64M	probably damaging	Het
Ifi206	A	T	1: 173,480,508	W641R		Het
Ifi214	T	A	1: 173,527,920	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,386,822	S636T	probably benign	Het
Klhl25	C	T	7: 75,865,672	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,806,350	E835G	probably benign	Het
March1	A	G	8: 66,468,348	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,018,713		probably benign	Het
Myrf	C	A	19: 10,215,070	R639L	probably benign	Het
Naip5	T	C	13: 100,223,096	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,546,344	I132V	probably benign	Het
Nprl3	C	T	11: 32,237,334	V333I	possibly damaging	Het
Olfr1318	A	T	2: 112,156,589	I213F	probably damaging	Het
Olfr1385	T	A	11: 49,494,844	S104T	probably benign	Het
Olfr1394	T	C	11: 49,160,470	M152T	probably benign	Het
Olfr300-ps1	T	C	7: 86,443,715	S245P	probably damaging	Het
Olfr32	A	T	2: 90,138,770	I123N	probably damaging	Het
Olfr648	T	C	7: 104,179,818	N197D	probably damaging	Het
Olfr680-ps1	C	A	7: 105,092,601	V73F	possibly damaging	Het
Olfr893	T	C	9: 38,209,803	V248A	probably benign	Het
Olfr974	T	C	9: 39,942,595	S112P	probably damaging	Het
Otx2	A	G	14: 48,659,064	M179T	probably damaging	Het
Pmfbp1	A	G	8: 109,538,677		probably benign	Het
Ppfia3	T	A	7: 45,361,705	T34S	probably benign	Het
Prkcsh	T	C	9: 22,013,079	Y502H	probably damaging	Het
Psd	T	C	19: 46,313,336	E937G	probably damaging	Het
Rbbp6	T	A	7: 123,001,753	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,270,757	M446K	probably damaging	Het
Sall3	T	C	18: 80,974,021	I231V	probably benign	Het
Slc12a9	C	T	5: 137,327,654	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,389,251	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,560,283	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,811,430	D418G	probably benign	Het
Sox6	T	C	7: 115,597,508	T296A	probably benign	Het
Ssu2	T	C	6: 112,384,438	E19G	probably damaging	Het
Tctn3	T	C	19: 40,611,726	N90S	probably damaging	Het
Tex24	A	G	8: 27,344,624	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,179,644	*128R	probably null	Het
Tti1	A	C	2: 157,993,010	L1010R	probably damaging	Het
Ttn	A	G	2: 76,737,338	L27737P	probably damaging	Het
Ubqln5	T	A	7: 104,129,115	K167N	probably benign	Het
Unkl	A	G	17: 25,231,715	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,036,680	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,591,135	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,635,950	T62K	probably benign	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
R1934:Olfr539	UTSW	7	140668038	nonsense	probably null
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
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'- TCTGACTCTTGTGGCAGATGC -3'
(R):5'- AGACTGCTGTTGGGAAAGC -3'

Sequencing Primer
(F):5'- TGTAGGCATCAACTTCATGCTAACC -3'
(R):5'- CTGTTGGGAAAGCATGTTTAGGAAC -3'

Posted On

2021-04-30