Mutagenetix > Incidental Mutation

Incidental Mutation 'R1985:Olfr539'

220473

Institutional Source

Beutler Lab

Gene Symbol

Olfr539

Ensembl Gene

ENSMUSG00000059136

Gene Name

olfactory receptor 539

Synonyms

MOR253-4, GA_x6K02T2PBJ9-42813436-42814368

MMRRC Submission

039997-MU

Accession Numbers

Essential gene?

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

Stock #

R1985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140659930-140678580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140667821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 171 (C171Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151522 (fasta)

Gene Model

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

AlphaFold

Q8VGL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000078967
AA Change: C178Y

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

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: C178Y

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: C171Y

Predicted Effect

probably damaging
Transcript: ENSMUST00000218865
AA Change: C171Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219853

Meta Mutation Damage Score

0.5545

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (76/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190007I07Rik	T	A	10: 82,620,217	T37S	possibly damaging	Het
AA792892	A	T	5: 94,384,072	I272L	probably benign	Het
Abhd8	C	A	8: 71,463,513		probably benign	Het
Adam5	A	T	8: 24,746,739	D648E	probably benign	Het
Akr1d1	A	G	6: 37,558,401	D240G	probably damaging	Het
Ankmy2	A	G	12: 36,157,364	H3R	possibly damaging	Het
Anpep	A	C	7: 79,840,857		probably null	Het
Apobr	A	G	7: 126,587,731	T20A	possibly damaging	Het
Atp2a2	A	T	5: 122,466,836	Y427N	probably benign	Het
Camkk2	A	C	5: 122,764,127	S40A	possibly damaging	Het
Camp	T	C	9: 109,848,429	N112S	probably benign	Het
Cbx7	A	G	15: 79,918,390	S229P	probably damaging	Het
Cnot2	T	C	10: 116,527,876	N41S	probably damaging	Het
Dchs1	A	G	7: 105,772,398	F272L	possibly damaging	Het
Dct	T	C	14: 118,036,542	K318E	probably benign	Het
Dhrs11	A	C	11: 84,828,807	L31V	probably damaging	Het
Dnah7a	T	C	1: 53,503,934	D2359G	probably benign	Het
Dnajc7	A	G	11: 100,590,892	S305P	probably benign	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Fam71b	T	C	11: 46,407,866	*666Q	probably null	Het
Flnc	A	G	6: 29,444,416		probably benign	Het
Gm7535	A	G	17: 17,911,538		probably benign	Het
Grtp1	A	G	8: 13,179,376	F313L	probably damaging	Het
Haus6	T	C	4: 86,593,609	Y425C	possibly damaging	Het
Hdac1	T	A	4: 129,528,960	N83Y	possibly damaging	Het
Hdlbp	A	G	1: 93,431,118	I237T	probably damaging	Het
Hfm1	A	T	5: 106,898,576	D481E	probably damaging	Het
Hipk3	T	C	2: 104,434,435	I737V	probably benign	Het
Il23r	T	A	6: 67,490,668		probably null	Het
Il24	G	A	1: 130,882,531	T196I	probably benign	Het
Ints3	C	T	3: 90,400,303		probably null	Het
Kcna6	T	C	6: 126,738,510	E472G	probably benign	Het
Kcnj16	C	T	11: 111,025,583	T357M	probably benign	Het
Kdm4b	T	A	17: 56,401,302	V957E	probably damaging	Het
Kif21b	G	A	1: 136,147,546	D166N	probably damaging	Het
Klhl11	G	T	11: 100,463,244	Q584K	probably benign	Het
Krt9	A	T	11: 100,189,991	M345K	probably benign	Het
Lgr5	T	C	10: 115,495,245		probably benign	Het
Lilr4b	A	T	10: 51,481,735	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669	E225G	possibly damaging	Het
Ly9	A	G	1: 171,599,773	S405P	probably damaging	Het
Myh2	A	G	11: 67,180,914	D519G	possibly damaging	Het
Nav3	G	A	10: 109,770,184		probably benign	Het
Nfkb1	G	A	3: 135,615,349	T215I	possibly damaging	Het
Ninj2	A	T	6: 120,198,639		probably benign	Het
Obsl1	A	G	1: 75,505,600	C209R	probably damaging	Het
Olfr1393	T	C	11: 49,280,283	I45T	probably damaging	Het
Olfr314	A	C	11: 58,786,384	D50A	probably damaging	Het
Olfr531	A	T	7: 140,400,800	M82K	possibly damaging	Het
Olfr619	A	T	7: 103,603,672	Y6F	probably benign	Het
Olfr710	A	G	7: 106,944,926	I25T	probably benign	Het
Otud4	G	C	8: 79,640,012	R36P	probably damaging	Het
Pcnt	C	T	10: 76,380,337	R2239H	possibly damaging	Het
Pgbd5	T	A	8: 124,370,592	M491L	probably benign	Het
Pitrm1	A	T	13: 6,558,184	D316V	probably damaging	Het
Plod3	A	G	5: 136,990,853		probably null	Het
Plppr3	A	T	10: 79,867,460	Y63*	probably null	Het
Prickle2	T	C	6: 92,411,452	D323G	probably damaging	Het
Psmd11	A	T	11: 80,445,263	I114F	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rbp3	T	G	14: 33,956,461	S789A	probably benign	Het
Rfxap	C	A	3: 54,807,326	R117L	probably damaging	Het
Rims2	T	A	15: 39,345,314	M171K	probably damaging	Het
Scin	A	G	12: 40,133,908		probably null	Het
Scn11a	A	G	9: 119,754,678	S1624P	probably benign	Het
Slc41a3	G	A	6: 90,642,228	V330M	probably damaging	Het
Slc9c1	A	G	16: 45,550,106	I237V	probably benign	Het
Spag6	A	G	2: 18,732,119	I218V	probably benign	Het
Stam2	T	C	2: 52,709,626	T257A	possibly damaging	Het
Tbc1d24	G	A	17: 24,207,964	R318*	probably null	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Trpm3	T	A	19: 22,926,082	Y1069N	possibly damaging	Het
Tuba8	A	G	6: 121,220,520	D47G	probably benign	Het
Tulp3	A	T	6: 128,326,806	S277T	probably benign	Het
Wdr7	GTT	GT	18: 63,760,583		probably null	Het
Ybx2	A	G	11: 69,936,468		probably null	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp788	T	A	7: 41,650,481	I795N	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
R1934:Olfr539	UTSW	7	140668038	nonsense	probably null
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'- CTCCTTCAAGGGATGTATGTCC -3'
(R):5'- GCAGGATGCTGGCAATGATG -3'

Sequencing Primer
(F):5'- ACATGGTCAGCATCCTCTGAG -3'
(R):5'- TGCAGCCATAAGACAACAAGGTTAG -3'

Posted On

2014-08-25