Mutagenetix > Incidental Mutation

Incidental Mutation 'R9095:Olfr539'

691294

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: 0.054) question?

Stock #

R9095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140659930-140678580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 140667900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 197 (N197K)

Ref Sequence

ENSEMBL: ENSMUSP00000151522 (fasta)

Gene Model

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

AlphaFold

Q8VGL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000078967
AA Change: N204K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: N204K

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

probably damaging
Transcript: ENSMUST00000218865
AA Change: N197K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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
2210010C04Rik	T	A	6: 41,033,104	N99Y	possibly damaging	Het
4931406P16Rik	A	T	7: 34,257,345		probably null	Het
Abca17	C	T	17: 24,281,396	V1274M	probably damaging	Het
Abca4	A	G	3: 122,173,907	H2202R	possibly damaging	Het
Ablim3	A	G	18: 61,820,392	L350P	probably benign	Het
Adamts17	C	T	7: 67,004,369	T449I	probably damaging	Het
Ankrd39	T	A	1: 36,547,160	D9V	probably benign	Het
Arhgef7	T	C	8: 11,785,819	V192A	probably damaging	Het
Art4	C	T	6: 136,857,271		probably benign	Het
Atg4a-ps	A	T	3: 103,645,938	V29E	possibly damaging	Het
Casc4	T	A	2: 121,925,615	L375Q	probably damaging	Het
Ccdc180	A	T	4: 45,949,466	K1574*	probably null	Het
Cfap54	T	G	10: 93,011,020	T1028P	probably damaging	Het
Clip2	C	T	5: 134,503,400	R517H	possibly damaging	Het
Col5a1	A	G	2: 28,024,653	T94A	probably benign	Het
Cpne1	T	A	2: 156,076,290		probably null	Het
Cyp2f2	T	A	7: 27,131,242	M346K	possibly damaging	Het
D130040H23Rik	AAGAATATATTCTACAGAATATA	AAGAATATA	8: 69,303,096		probably null	Het
Ddi2	T	A	4: 141,692,279	I387F	probably benign	Het
Dsg1b	A	G	18: 20,390,225	N103S	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,231,122		probably null	Het
Dysf	A	G	6: 84,179,684	I1464V	probably benign	Het
Epha2	A	G	4: 141,316,701	Y314C	possibly damaging	Het
Etl4	A	G	2: 20,778,153	E675G	probably damaging	Het
Fam114a1	A	C	5: 65,031,390	I488L	probably benign	Het
Fbxo31	G	A	8: 121,554,397	R337C	probably damaging	Het
Fn1	A	C	1: 71,607,990	I1547S	probably null	Het
Gm10031	A	T	1: 156,524,643	Y138F	probably benign	Het
Gm13083	T	C	4: 143,615,190	F63S	probably damaging	Het
Gm14305	T	A	2: 176,721,252	Y312*	probably null	Het
Gpihbp1	A	G	15: 75,597,792	T119A	possibly damaging	Het
Harbi1	T	G	2: 91,712,635	V147G	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,499	Y186C	probably damaging	Het
Ighv13-2	C	A	12: 114,357,874	A82S	probably benign	Het
Itpr1	T	A	6: 108,387,391	D827E	probably benign	Het
Krtap4-2	C	T	11: 99,634,975	G17D	unknown	Het
Ly6a	A	T	15: 74,995,484		probably benign	Het
Mad1l1	C	T	5: 140,302,986	E203K	probably damaging	Het
Mapk14	C	A	17: 28,715,439	D101E	probably benign	Het
Meis3	G	T	7: 16,183,839	G306W	probably damaging	Het
Mixl1	T	C	1: 180,696,837	D59G	probably benign	Het
Nav2	G	A	7: 49,604,545	V2364M	probably damaging	Het
Nell1	T	C	7: 50,856,402	S786P	possibly damaging	Het
Olfr1461	T	G	19: 13,165,946	S311A	probably benign	Het
Olfr578	A	G	7: 102,984,480	L228P	probably damaging	Het
Olfr78	C	A	7: 102,742,266	V246L	possibly damaging	Het
Pcdhgb8	A	T	18: 37,762,999	D374V	probably damaging	Het
Phactr2	A	G	10: 13,253,642	I294T	probably benign	Het
Plekha4	C	T	7: 45,541,068	A400V	probably damaging	Het
Pramel4	C	A	4: 144,068,358	D441E	probably benign	Het
Prr12	G	A	7: 45,045,843	P1400S	unknown	Het
Rbm6	G	A	9: 107,791,890	Q608*	probably null	Het
Scamp1	T	A	13: 94,233,090	I76F	probably benign	Het
Sez6	G	A	11: 77,974,295	E623K	possibly damaging	Het
Sirt1	A	T	10: 63,322,298	S446T	probably damaging	Het
Slc25a54	A	G	3: 109,112,088	K336R	probably benign	Het
Spag17	G	T	3: 100,004,776	V321F	possibly damaging	Het
Sstr1	A	G	12: 58,212,834	Y81C	probably damaging	Het
St8sia4	T	C	1: 95,591,800	K321R	probably damaging	Het
Stac3	T	C	10: 127,507,715	F242S	probably damaging	Het
Tanc2	T	G	11: 105,867,278	S622A	probably benign	Het
Tcf4	G	A	18: 69,465,393	D106N	possibly damaging	Het
Tfrc	T	A	16: 32,614,753	I75N	possibly damaging	Het
Tigd2	G	A	6: 59,210,524	W125*	probably null	Het
Tjp1	T	C	7: 65,302,997	T1530A	possibly damaging	Het
Tmem132a	T	A	19: 10,867,048	H62L	probably benign	Het
Tmem89	T	C	9: 108,914,661	S10P	unknown	Het
Trrap	C	T	5: 144,797,151	P938L	probably damaging	Het
Unc80	C	A	1: 66,506,753	P488T	probably damaging	Het
Uri1	C	A	7: 37,963,448	G374C	probably damaging	Het
Utp20	T	C	10: 88,775,318	N1379S	probably damaging	Het
Vcan	G	T	13: 89,704,525	T772K	probably benign	Het
Wrb	T	A	16: 96,153,044		probably benign	Het
Zbtb37	A	T	1: 161,020,371	Y355*	probably null	Het
Zfp3	A	G	11: 70,771,579	I121M	probably benign	Het
Zfp629	A	T	7: 127,610,375	L754Q	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
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
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'- ACCGCTATGTGGCTATCTGC -3'
(R):5'- TAGATGAGTAGTACACAGAGACCAC -3'

Sequencing Primer
(F):5'- CTACACTACAGCTCTAGGATGAG -3'
(R):5'- TACACAGAGACCACAATGAGGTG -3'

Posted On

2021-12-30