Mutagenetix > Incidental Mutations

Incidental Mutation 'R7894:Olfr486'

609520

Institutional Source

Beutler Lab

Gene Symbol

Olfr486

Ensembl Gene

ENSMUSG00000096068

Gene Name

olfactory receptor 486

Synonyms

MOR204-19, GA_x6K02T2PBJ9-10501920-10500976

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7894 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108171798-108172742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108172184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 187 (M187L)

Ref Sequence

ENSEMBL: ENSMUSP00000071918 (fasta)

Gene Model

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

AlphaFold

Q8VFD0

Predicted Effect

probably benign
Transcript: ENSMUST00000072035
AA Change: M187L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071918
Gene: ENSMUSG00000096068
AA Change: M187L

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

Coding Region Coverage

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

Validation Efficiency

99% (81/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,106,589	M1551T	possibly damaging	Het
Abcc9	A	G	6: 142,594,007	*1547Q	probably null	Het
Adamts20	A	C	15: 94,351,760	C459G	probably damaging	Het
Adamts5	C	T	16: 85,877,920	W452*	probably null	Het
Adcy8	G	T	15: 64,920,205	Q301K	possibly damaging	Het
Adgrv1	A	C	13: 81,567,451	C873G	probably benign	Het
AI314180	T	C	4: 58,853,708	N361S	probably damaging	Het
Ak9	A	G	10: 41,420,539	D1427G	unknown	Het
Amy2a1	T	A	3: 113,530,541	M117L	possibly damaging	Het
Ap5z1	G	T	5: 142,466,284	R23L	probably benign	Het
Ap5z1	C	T	5: 142,470,436	Q337*	probably null	Het
Astn1	C	A	1: 158,601,938	Q759K	probably damaging	Het
Cd276	T	A	9: 58,537,479	T70S	possibly damaging	Het
Cd38	C	T	5: 43,900,404	T106I	probably damaging	Het
Cdon	C	G	9: 35,476,948	R740G	probably damaging	Het
Clk2	C	T	3: 89,168,894	R124W	possibly damaging	Het
Cyp1b1	C	T	17: 79,714,215	V33M	possibly damaging	Het
Dab1	T	A	4: 104,732,138	D547E	probably benign	Het
Degs1	A	T	1: 182,276,851	Y290N	probably damaging	Het
Degs1	G	C	1: 182,276,852	H289Q	probably benign	Het
Dopey2	T	A	16: 93,810,204	C2249S	probably benign	Het
Ehd4	A	C	2: 120,102,428	Y172*	probably null	Het
Erc2	A	G	14: 27,777,208	D347G	probably damaging	Het
Espl1	T	G	15: 102,304,025	V522G	probably damaging	Het
Fabp9	T	A	3: 10,197,167	T10S	probably benign	Het
Fam193a	T	C	5: 34,440,533	I558T	possibly damaging	Het
Fhod1	T	C	8: 105,331,157	E912G	probably damaging	Het
Gja1	T	C	10: 56,388,549	F335L	possibly damaging	Het
Gm14025	A	C	2: 129,037,129	V959G	unknown	Het
Gm29106	A	G	1: 118,199,535	H319R	probably damaging	Het
Hunk	C	T	16: 90,472,465	S299F	probably damaging	Het
Hydin	C	T	8: 110,513,010	T1974M	possibly damaging	Het
Ighv10-1	T	A	12: 114,479,030	T112S	probably damaging	Het
Ireb2	T	A	9: 54,882,336	V98E	probably damaging	Het
Irf4	A	C	13: 30,753,452	H167P	probably benign	Het
Irf6	C	T	1: 193,162,713	P164L	probably benign	Het
Josd1	A	G	15: 79,677,250	I119T	probably damaging	Het
Kcna5	G	T	6: 126,535,048	T39K	probably damaging	Het
Klhl24	A	G	16: 20,123,000	D566G	probably damaging	Het
Kmt2a	T	A	9: 44,849,857	K232*	probably null	Het
Krt36	A	G	11: 100,105,235	L121P	probably damaging	Het
Lama3	A	T	18: 12,462,807	H931L	probably benign	Het
Lamp3	A	T	16: 19,655,391	I411N	probably damaging	Het
Lingo3	C	T	10: 80,834,776	W440*	probably null	Het
Mia2	T	C	12: 59,189,647	Y712H	probably damaging	Het
Mlh1	T	A	9: 111,230,077		probably null	Het
Mta3	T	A	17: 83,762,934	S174T	probably benign	Het
Myo15	A	G	11: 60,491,137	T347A		Het
Naaladl2	C	T	3: 23,846,554	R704H	possibly damaging	Het
Nfib	T	C	4: 82,327,793	N394S	probably benign	Het
Nr2f2	A	G	7: 70,359,933	Y133H	probably damaging	Het
Olfr1220	A	G	2: 89,097,588	V113A	possibly damaging	Het
Olfr1314	A	T	2: 112,092,477	C75S	probably benign	Het
Olfr320	C	T	11: 58,684,674	S267F	possibly damaging	Het
Olfr94	C	T	17: 37,197,156	E196K	probably damaging	Het
Phgdh	C	A	3: 98,339,808	V9L	probably damaging	Het
Pkd2	T	A	5: 104,480,237	D392E	probably damaging	Het
Plekhm3	A	G	1: 64,921,715	S461P	probably benign	Het
Prss39	A	G	1: 34,500,227	T183A	probably benign	Het
Pter	T	A	2: 12,994,755	I235K	probably damaging	Het
Ptp4a3	T	C	15: 73,756,907	V172A	probably benign	Het
Rasa2	T	C	9: 96,602,727	N145D	probably benign	Het
Rasal2	A	T	1: 157,243,648	H45Q	probably benign	Het
Rbm43	A	G	2: 51,925,897	V104A	probably damaging	Het
Rhbdd2	C	A	5: 135,639,115		probably null	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rimbp2	T	A	5: 128,761,464	N1023I	probably damaging	Het
Rtl1	A	T	12: 109,594,597	D269E	possibly damaging	Het
Sbp	A	G	17: 23,942,189		probably benign	Het
Sorbs1	T	A	19: 40,327,576	T374S	probably benign	Het
Tgs1	A	T	4: 3,598,652	K655I	probably benign	Het
Thsd1	A	C	8: 22,259,569	T819P	probably damaging	Het
Tmprss11c	C	T	5: 86,231,796	V418M	probably damaging	Het
Top2a	A	T	11: 99,009,605	D645E	probably damaging	Het
Top2b	G	A	14: 16,413,081	V997I	possibly damaging	Het
Ttc34	A	G	4: 154,859,383	D118G	probably damaging	Het
Ttll5	A	G	12: 85,889,174	D353G	probably damaging	Het
Uba6	A	T	5: 86,118,065	Y994*	probably null	Het
Vmn1r189	A	T	13: 22,101,736	Y310*	probably null	Het
Vps13c	T	A	9: 67,926,983	I1644N	probably damaging	Het
Zfp811	T	C	17: 32,798,847	D73G	possibly damaging	Het
Zfp951	A	T	5: 104,814,972	C243S	probably benign	Het

Other mutations in Olfr486

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0033:Olfr486	UTSW	7	108171927	missense	probably benign	0.09
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
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'- GTAGGTGGACTTTGGCATCAC -3'
(R):5'- CTGCCATGGCTTATGATCGC -3'

Sequencing Primer
(F):5'- TAGTTCCATAGTAGAGAGTGACTGC -3'
(R):5'- GCTTGGTAGCAATCTGCAAC -3'

Posted On

2019-12-20