Mutagenetix > Incidental Mutations

Incidental Mutation 'R0033:Olfr486'

64551

Institutional Source

Beutler Lab

Gene Symbol

Olfr486

Ensembl Gene

ENSMUSG00000096068

Gene Name

olfactory receptor 486

Synonyms

MOR204-19, GA_x6K02T2PBJ9-10501920-10500976

MMRRC Submission

038327-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

108171798-108172742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108171927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 272 (D272E)

Ref Sequence

ENSEMBL: ENSMUSP00000071918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072035]

AlphaFold

Q8VFD0

Predicted Effect

probably benign
Transcript: ENSMUST00000072035
AA Change: D272E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071918
Gene: ENSMUSG00000096068
AA Change: D272E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	311	6.8e-51	PFAM
Pfam:7tm_1	44	293	6.6e-24	PFAM

Meta Mutation Damage Score

0.1831

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 93.3%

Validation Efficiency

100% (81/81)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,188,064	F110L	probably damaging	Het
Agr3	C	T	12: 35,928,330	T14M	possibly damaging	Het
Ankib1	A	C	5: 3,769,588	D110E	possibly damaging	Het
Auts2	G	C	5: 131,440,093	D571E	probably damaging	Het
Cacna1d	T	A	14: 30,105,489	Q993L	probably damaging	Het
Cdkn3	C	A	14: 46,768,872	Y141*	probably null	Het
Ceacam12	T	G	7: 18,069,460		probably benign	Het
Celf1	T	C	2: 91,001,453		probably benign	Het
Col6a3	A	G	1: 90,802,245	S1780P	probably damaging	Het
Csf3r	A	G	4: 126,031,884	T151A	probably benign	Het
Ctss	G	A	3: 95,545,577		probably benign	Het
D430042O09Rik	T	G	7: 125,761,827	V103G	possibly damaging	Het
Emilin2	G	T	17: 71,275,014	T239K	probably benign	Het
Erp44	T	C	4: 48,241,289		probably benign	Het
Fbxl4	T	C	4: 22,377,017	V151A	probably damaging	Het
Fer1l4	G	A	2: 156,024,106		probably benign	Het
Gm12794	A	T	4: 101,941,684	Y284F	probably benign	Het
Gm43302	T	C	5: 105,276,844	D310G	probably benign	Het
Gstk1	A	G	6: 42,246,803		probably benign	Het
Hapln1	A	T	13: 89,601,813	Q159L	probably benign	Het
Hibch	A	G	1: 52,905,451	K296R	probably null	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kdm7a	A	T	6: 39,165,197	Y382*	probably null	Het
Kirrel3	A	G	9: 35,000,963	I208V	probably benign	Het
Klc4	A	T	17: 46,635,433	C489S	probably damaging	Het
Lrrc8a	G	T	2: 30,255,345	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,276,509	N435D	possibly damaging	Het
Macc1	T	A	12: 119,446,341	N281K	probably benign	Het
Myo16	A	T	8: 10,370,955	Y265F	probably damaging	Het
Myoc	G	A	1: 162,648,441	G238E	probably damaging	Het
Nlrp12	A	C	7: 3,240,407	S492A	probably damaging	Het
Obscn	A	G	11: 58,994,746		probably benign	Het
Olfr1413	A	G	1: 92,573,260	T30A	probably benign	Het
Oplah	T	A	15: 76,297,134	Q1202L	probably benign	Het
Ppargc1b	G	A	18: 61,307,694	R718W	probably damaging	Het
Pwwp2b	A	T	7: 139,254,928	D95V	possibly damaging	Het
Rnf225	T	C	7: 12,928,158	L88P	probably damaging	Het
Slc12a1	A	G	2: 125,214,009	D820G	probably benign	Het
Slc12a4	G	T	8: 105,947,479		probably benign	Het
Slx4	C	T	16: 3,988,000	A72T	probably benign	Het
Snrnp200	T	C	2: 127,238,063	I1920T	probably damaging	Het
Stap2	C	T	17: 55,999,976	V234M	probably damaging	Het
Sv2b	A	G	7: 75,117,741	F636L	probably benign	Het
Tdp1	C	T	12: 99,935,052	T531I	probably benign	Het
Thra	G	A	11: 98,764,352	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,066,422		probably benign	Het
Tmx4	A	T	2: 134,600,998		probably null	Het
Tnfrsf12a	A	G	17: 23,676,145		probably null	Het
Trav6n-5	T	A	14: 53,104,911	M14K	probably benign	Het
Ttn	T	A	2: 76,742,280	I26090F	probably damaging	Het
Tut1	G	T	19: 8,962,759	R369L	probably benign	Het
Uba5	T	A	9: 104,054,148	T241S	probably benign	Het
Unc13d	T	C	11: 116,069,165	T597A	probably benign	Het
Vmn1r58	A	T	7: 5,410,388	I281K	probably damaging	Het
Vmn1r59	A	G	7: 5,454,434	V109A	probably benign	Het
Xdh	T	A	17: 73,907,632	M773L	probably benign	Het
Zfp64	A	T	2: 168,925,715	I659N	possibly damaging	Het

Other mutations in Olfr486

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0144:Olfr486	UTSW	7	108171971	missense	probably benign	0.00
R0165:Olfr486	UTSW	7	108172675	missense	probably benign	0.03
R0739:Olfr486	UTSW	7	108172010	missense	probably benign	0.00
R1027:Olfr486	UTSW	7	108172141	missense	probably damaging	0.98
R1781:Olfr486	UTSW	7	108171883	missense	probably benign	0.06
R3729:Olfr486	UTSW	7	108172309	missense	probably benign	0.13
R4505:Olfr486	UTSW	7	108171968	missense	probably benign	0.00
R5223:Olfr486	UTSW	7	108172708	missense	probably benign	0.20
R7089:Olfr486	UTSW	7	108172494	missense	probably benign	0.01
R7499:Olfr486	UTSW	7	108171800	makesense	probably null
R7894:Olfr486	UTSW	7	108172184	missense	probably benign
R7995:Olfr486	UTSW	7	108172000	missense	probably damaging	1.00
R8807:Olfr486	UTSW	7	108172645	missense	possibly damaging	0.93
R9050:Olfr486	UTSW	7	108171880	missense	probably damaging	1.00
R9244:Olfr486	UTSW	7	108172645	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGCCAAAGGAGAAATACCTTGGCTT -3'
(R):5'- AGCAATCTGCAACCCACTGCTTTAT -3'

Sequencing Primer
(F):5'- GGAGAAATACCTTGGCTTATAACC -3'
(R):5'- ATGTCCTCACAAGTGTGTATCCAG -3'

Posted On

2013-08-06