Mutagenetix > Incidental Mutations

Incidental Mutation 'R8807:Olfr486'

672138

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 #

R8807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108171798-108172742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108172645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 33 (I33N)

Ref Sequence

ENSEMBL: ENSMUSP00000071918 (fasta)

Gene Model

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

AlphaFold

Q8VFD0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072035
AA Change: I33N

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071918
Gene: ENSMUSG00000096068
AA Change: I33N

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,244,778	I644F	probably damaging	Het
5730480H06Rik	T	C	5: 48,377,152	I118T	probably damaging	Het
Abca8a	A	T	11: 110,083,426	F227L	probably benign	Het
Abcc6	A	T	7: 45,999,007	I687N	possibly damaging	Het
Akain1	T	C	17: 69,487,345	*70Q	probably null	Het
Allc	C	T	12: 28,565,490	G89S	probably damaging	Het
Artn	A	T	4: 117,926,718	S184T	possibly damaging	Het
Bcl2a1c	A	T	9: 114,330,180	I9F	probably damaging	Het
Cacna2d1	T	A	5: 16,267,454	D286E	probably damaging	Het
Cdc25a	G	A	9: 109,879,235	E98K	probably benign	Het
Cdr2l	A	T	11: 115,393,915	Q359L	probably damaging	Het
Cmip	C	T	8: 117,411,355	T103M	probably benign	Het
Dcaf1	A	G	9: 106,865,069	T1358A	probably benign	Het
Dedd2	C	T	7: 25,211,280	R157Q	probably benign	Het
Dhrs1	A	G	14: 55,745,042	V9A	probably damaging	Het
Dopey2	T	A	16: 93,762,085	V573E	probably benign	Het
Eef2k	A	T	7: 120,891,707	I517F	possibly damaging	Het
En1	T	C	1: 120,603,361	F110S	possibly damaging	Het
Evpl	T	A	11: 116,221,027	I1946F	probably damaging	Het
Gaa	A	T	11: 119,277,567	M502L	probably benign	Het
Gfer	C	T	17: 24,695,872	A66T	possibly damaging	Het
Gm13271	A	G	4: 88,754,976	T37A	probably benign	Het
Gm34653	A	T	2: 34,838,806	I206F	probably damaging	Het
Grm3	C	T	5: 9,511,499	A784T	probably damaging	Het
Helz	C	G	11: 107,603,009	S277C	probably damaging	Het
Henmt1	T	G	3: 108,960,336	*396G	probably null	Het
Hfe	C	T	13: 23,705,684	V327I	probably benign	Het
Hist1h3g	A	G	13: 23,535,458	K5E	probably benign	Het
Hoxd8	A	T	2: 74,705,969	Q141L	probably damaging	Het
Hspa12b	T	G	2: 131,145,183	S675A	probably benign	Het
Ifi214	G	A	1: 173,526,567	T179I	possibly damaging	Het
Ighv5-9	T	A	12: 113,661,784	Y113F	possibly damaging	Het
Lca5l	T	A	16: 96,178,608	R112S	probably benign	Het
Lmbrd1	C	T	1: 24,731,762	P257S	probably benign	Het
Loxhd1	C	T	18: 77,356,772	T608I	possibly damaging	Het
Lpl	C	A	8: 68,892,628	L95I	probably damaging	Het
Lrp2bp	A	T	8: 46,020,695	Q196L	probably damaging	Het
Ly6h	A	G	15: 75,566,207	Y19H	probably benign	Het
Mfsd6	T	C	1: 52,658,547		probably benign	Het
Mpo	T	C	11: 87,796,339	I237T	probably benign	Het
Mrpl41	A	G	2: 24,974,866	W6R	unknown	Het
Muc16	T	A	9: 18,656,057	H1722L	unknown	Het
Mug1	A	C	6: 121,874,475	D777A	probably benign	Het
Myh1	A	T	11: 67,220,528	I1598F	probably benign	Het
Myo1f	C	T	17: 33,575,905	R40C	probably damaging	Het
Myo6	G	A	9: 80,300,667		probably null	Het
Nbeal2	G	T	9: 110,629,639	N2071K	probably damaging	Het
Nectin4	T	A	1: 171,383,714	C269S	probably damaging	Het
Nhlrc1	A	T	13: 47,014,514	L89Q	probably damaging	Het
Nup205	T	C	6: 35,183,969	F103S	probably damaging	Het
Obscn	C	A	11: 59,079,644	V2379F	probably damaging	Het
Olfr1031	A	T	2: 85,992,828	*337L	probably null	Het
Plppr2	TCGCC	TC	9: 21,944,431		probably benign	Het
Ptbp3	A	G	4: 59,517,584	V101A	probably benign	Het
Rps6kb2	C	T	19: 4,163,230	D6N	probably damaging	Het
Rsph1	T	A	17: 31,265,854	H154L	probably damaging	Het
Sdk1	G	A	5: 142,085,627	V1191M	probably damaging	Het
Selenos	T	A	7: 66,079,719	D2E	probably benign	Het
Sema5a	G	A	15: 32,562,722	G293D	possibly damaging	Het
Sgcg	A	G	14: 61,232,481	S144P	probably damaging	Het
Sh3d19	T	C	3: 86,085,352	V229A	probably benign	Het
Sin3b	C	T	8: 72,750,080	A714V	probably benign	Het
Slitrk6	T	A	14: 110,750,691	Q528L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Stard9	T	A	2: 120,705,451	L4063H	probably damaging	Het
Stard9	A	C	2: 120,705,462	K4067Q	probably damaging	Het
Svs1	T	C	6: 48,988,254	F399L	probably benign	Het
Terb1	A	G	8: 104,469,109		probably null	Het
Tex2	T	A	11: 106,544,368	H744L	unknown	Het
Tex2	T	C	11: 106,567,588	S339G	unknown	Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Trhr	A	T	15: 44,197,816	N244I	probably benign	Het
Ttn	G	A	2: 76,752,065	A22828V	probably damaging	Het
Uchl1	C	T	5: 66,676,258		probably benign	Het
Uroc1	A	T	6: 90,351,128	I529F	probably damaging	Het
Vps13c	G	T	9: 67,858,840	V80F	probably damaging	Het
Wnt1	T	A	15: 98,792,764	C325S	probably damaging	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
R7894:Olfr486	UTSW	7	108172184	missense	probably benign
R7995:Olfr486	UTSW	7	108172000	missense	probably damaging	1.00
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'- CCACATCCAAGGTAGGAGATGG -3'
(R):5'- TATGTGTCTGAAGAGAGTGATGCAG -3'

Sequencing Primer
(F):5'- GTTTTTCTCAGTCAGGAAGTTGAC -3'
(R):5'- GTGAGTTCCAAGAATCAAACTCTGG -3'

Posted On

2021-04-30