Mutagenetix > Incidental Mutation

Incidental Mutation 'R7920:Olfr539'

648293

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

Essential gene?

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

Stock #

R7920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140659930-140678580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140667901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 198 (S198C)

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: S205C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: S205C

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: S198C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,996,173	S9P	probably damaging	Het
AI661453	A	T	17: 47,468,406	Q1019L	unknown	Het
Aldh1a1	T	A	19: 20,617,937	W77R	probably damaging	Het
Cc2d2a	T	C	5: 43,739,309	I1516T	probably benign	Het
Ccdc149	T	A	5: 52,405,094	I197F	probably damaging	Het
Ccdc189	A	G	7: 127,587,953	M46T	probably benign	Het
Cfb	A	G	17: 34,860,891	V176A	probably benign	Het
Chordc1	A	G	9: 18,302,101	K83E	probably benign	Het
Cic	G	A	7: 25,271,959	V372M	probably benign	Het
Coq2	T	A	5: 100,663,875		probably benign	Het
Cradd	A	G	10: 95,322,711	L58P	probably damaging	Het
Crim1	A	T	17: 78,303,064	D316V	probably damaging	Het
Cyb5rl	C	A	4: 107,071,008	L114I	possibly damaging	Het
Cyp2c69	T	G	19: 39,877,803		probably null	Het
Ddhd1	A	G	14: 45,657,470	F181S	probably damaging	Het
Dennd1b	G	A	1: 139,062,873	E192K	probably damaging	Het
Dmrt1	T	C	19: 25,506,019	S56P	possibly damaging	Het
Dnah12	A	G	14: 26,856,542	E3086G	possibly damaging	Het
Dnah5	A	T	15: 28,453,222	M4380L	probably benign	Het
Dph7	A	T	2: 24,971,612	M346L	probably benign	Het
Dusp27	T	A	1: 166,099,896	N716Y	possibly damaging	Het
Egf	C	T	3: 129,735,840	R307H	probably benign	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Fcna	T	C	2: 25,626,286	K112E	probably benign	Het
Fkbp5	A	T	17: 28,429,239	N125K	possibly damaging	Het
Foxo3	C	T	10: 42,197,769	V251I	possibly damaging	Het
Fryl	T	A	5: 73,101,807		probably null	Het
Fsip2	A	G	2: 82,951,021	E253G	possibly damaging	Het
Gm49333	A	G	16: 20,637,692	E428G	possibly damaging	Het
Gprc6a	T	A	10: 51,614,930	T908S	probably benign	Het
Grin2c	A	T	11: 115,254,144	F560L	probably benign	Het
Hao1	T	A	2: 134,548,252	N56Y	probably damaging	Het
Haus3	T	C	5: 34,167,702	I204M	probably benign	Het
Htr3b	C	A	9: 48,937,156	C263F	probably damaging	Het
Ica1	A	T	6: 8,742,274	C120S	probably benign	Het
Inpp4a	T	A	1: 37,367,805	S210T	probably benign	Het
Inpp5d	T	G	1: 87,705,949	I699S	probably damaging	Het
Kcng1	A	G	2: 168,262,984	V314A	probably benign	Het
Lcn11	G	A	2: 25,779,331	V167M	possibly damaging	Het
Lingo3	C	A	10: 80,834,548	R516L	probably benign	Het
Lrmda	T	C	14: 22,596,478	V151A	probably damaging	Het
Ly6g5b	A	C	17: 35,114,602	I133R	probably damaging	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Miip	C	T	4: 147,862,918	G236S	probably benign	Het
Mroh7	T	C	4: 106,707,576	T562A	probably benign	Het
Nlrc4	A	G	17: 74,427,119	M933T	probably benign	Het
Pkhd1	A	T	1: 20,275,535	D2756E	probably damaging	Het
Plekhm2	T	C	4: 141,632,121	D445G	probably damaging	Het
Ppp1r12c	C	T	7: 4,483,355	G605D	probably benign	Het
Pygb	T	A	2: 150,787,002	N45K	possibly damaging	Het
Scn4b	A	G	9: 45,146,771	T54A	probably damaging	Het
Scrt1	T	A	15: 76,519,217	H191L	unknown	Het
Sdc3	A	G	4: 130,819,196	M289V	probably benign	Het
Shb	C	T	4: 45,489,054		probably null	Het
Slc1a5	A	G	7: 16,793,870	T364A	probably damaging	Het
Slc25a27	A	G	17: 43,649,673	V218A	probably benign	Het
Slc39a4	C	T	15: 76,614,085	G384D	probably damaging	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Tmem67	A	T	4: 12,089,284		probably null	Het
Tonsl	C	T	15: 76,634,587	R544H	probably damaging	Het
Trex1	A	G	9: 109,058,089	V278A	unknown	Het
Ttn	A	T	2: 76,795,157	D15107E	probably damaging	Het
Tubgcp5	A	G	7: 55,816,562	T621A	probably benign	Het
Zfhx4	T	C	3: 5,400,455	V1916A	possibly damaging	Het
Zfp260	A	T	7: 30,105,592	K306*	probably null	Het
Zkscan7	A	T	9: 122,895,909	T648S	probably benign	Het
Zscan4c	T	A	7: 11,009,772	F433I	possibly 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
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'- TGACCGCTATGTGGCTATCTG -3'
(R):5'- TGAGTAGTACACAGAGACCACAATG -3'

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

Posted On

2020-09-15