Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Olfr539'

534569

Institutional Source

Beutler Lab

Gene Symbol

Olfr539

Ensembl Gene

ENSMUSG00000059136

Gene Name

olfactory receptor 539

Synonyms

MOR253-4, GA_x6K02T2PBJ9-42813436-42814368

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140659930-140678580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140668180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 298 (I298L)

Ref Sequence

ENSEMBL: ENSMUSP00000077990 (fasta)

Gene Model

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

AlphaFold

Q8VGL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078967
AA Change: I298L

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: I298L

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: I291L

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.7046

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,196,504	I81F	possibly damaging	Het
Adamtsl2	T	C	2: 27,081,706	M1T	probably null	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Alox8	T	C	11: 69,186,505	Y473C	probably damaging	Het
Alox8	T	C	11: 69,189,889	R209G	possibly damaging	Het
Asb5	A	G	8: 54,585,071	M210V	probably benign	Het
Atp2c2	T	A	8: 119,734,415	L249Q	probably damaging	Het
AU018091	T	G	7: 3,164,156	D77A	probably damaging	Het
Bahcc1	A	T	11: 120,271,757	K294*	probably null	Het
Baz2b	C	T	2: 59,917,425	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,143,136	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,228,065	I145N	probably benign	Het
Casq2	A	T	3: 102,086,760	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,197,967	L993P	probably damaging	Het
Cfap44	A	G	16: 44,404,079	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,806,383	I91F	probably damaging	Het
Crebbp	T	A	16: 4,180,022	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,272,640	T321A	probably benign	Het
Dido1	A	G	2: 180,662,307	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,148,492	V174G	probably damaging	Het
Gm20730	G	T	6: 43,081,833		probably null	Het
Gm36176	T	C	10: 77,847,142		probably benign	Het
Gper1	T	A	5: 139,426,680	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,849,658	L89P	probably damaging	Het
Katnal1	T	C	5: 148,894,164	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Klhl20	T	A	1: 161,105,406	E277D	probably benign	Het
Lingo1	T	C	9: 56,619,772	Y517C	probably damaging	Het
Lrrk1	C	T	7: 66,342,779	E82K	probably benign	Het
Mtor	T	A	4: 148,489,498	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,100,315	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,586,100	T1643I	probably damaging	Het
Olfr1258	T	C	2: 89,930,339	C177R	probably damaging	Het
Olfr1357	A	G	10: 78,612,590	L17P	probably damaging	Het
Olfr1387	A	T	11: 49,460,077	T133S	possibly damaging	Het
Pcdhgb6	T	C	18: 37,742,962	V241A	probably benign	Het
Phf11b	T	A	14: 59,328,123	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,581,259	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,835,195	S352G	probably benign	Het
Ptprh	C	T	7: 4,551,135	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,665	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,604,273		probably null	Het
Rbm20	G	A	19: 53,814,069	G336E	probably damaging	Het
Sdsl	T	C	5: 120,462,102	I77V	probably benign	Het
Serpina3b	G	A	12: 104,134,082	E308K	probably benign	Het
Sfrp5	G	A	19: 42,201,710	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,321,632	V451I	probably benign	Het
Slc6a9	C	T	4: 117,867,886	A559V	possibly damaging	Het
Spg11	C	T	2: 122,059,535	A2109T	probably damaging	Het
Stard9	C	T	2: 120,699,843	R2194C	probably benign	Het
Tfeb	T	C	17: 47,786,198		probably null	Het
Tiam2	T	A	17: 3,414,380	I128N	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tpr	T	G	1: 150,436,673		probably null	Het
Traf3ip1	T	C	1: 91,521,000	I456T	probably benign	Het
Ttll4	T	A	1: 74,689,413	D892E	probably damaging	Het
Ubr1	T	A	2: 120,896,675		probably null	Het
Vmn2r74	T	A	7: 85,957,422	I239F	probably benign	Het
Wdfy3	C	T	5: 101,952,999	V251M	probably damaging	Het
Xylb	T	A	9: 119,391,754	L531H	probably damaging	Het
Zfp960	T	A	17: 17,088,172	C383S	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
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
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'- ATCATTGCCAGCATCCTGC -3'
(R):5'- GAATTATCCAGTCCTTGCATCAGAG -3'

Sequencing Primer
(F):5'- CGCATGCGTTCTGCTGAG -3'
(R):5'- AGTCCTTGCATCAGAGAAAGTC -3'

Posted On

2018-09-12