Mutagenetix > Incidental Mutation

Incidental Mutation 'R1496:Olfr8'

168878

Institutional Source

Beutler Lab

Gene Symbol

Olfr8

Ensembl Gene

ENSMUSG00000094080

Gene Name

olfactory receptor 8

Synonyms

MOR139-5P, GA_x6K02T2QGN0-2857086-2856154

MMRRC Submission

039547-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78950636-78958378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78955848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 214 (S214R)

Ref Sequence

ENSEMBL: ENSMUSP00000148856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081571] [ENSMUST00000203851] [ENSMUST00000214952]

AlphaFold

Q60892

Predicted Effect

probably benign
Transcript: ENSMUST00000081571
AA Change: S214R

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: S214R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	1.3e-47	PFAM
Pfam:7tm_1	42	291	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203851
AA Change: S214R

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: S214R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	1.3e-47	PFAM
Pfam:7tm_1	42	291	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214952
AA Change: S214R

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216819

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,310,254		probably benign	Het
4933411K16Rik	T	C	19: 42,053,050	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,448,434	L832Q	probably damaging	Het
Acan	T	A	7: 79,100,804	H1774Q	probably benign	Het
Adss	T	C	1: 177,772,194	T275A	probably benign	Het
Ano5	G	A	7: 51,583,775	R595H	probably damaging	Het
Araf	G	T	X: 20,859,704	R522L	probably damaging	Het
Arhgef28	C	T	13: 97,965,546	V807I	possibly damaging	Het
Bin1	T	C	18: 32,412,704	I103T	probably damaging	Het
C4b	C	T	17: 34,740,021	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,678,035	P1015S	probably benign	Het
Capn1	A	G	19: 6,007,498		probably null	Het
Cep290	A	G	10: 100,538,966	Q1358R	probably damaging	Het
Cfap126	T	C	1: 171,125,817		probably benign	Het
Chn1	T	C	2: 73,679,607		probably benign	Het
Cldn8	T	C	16: 88,562,401	E212G	probably benign	Het
Cpb1	T	C	3: 20,263,532	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,810,347	I138F	probably benign	Het
Dab2ip	G	A	2: 35,718,791	R579H	probably damaging	Het
Dcaf8	T	C	1: 172,193,855	M538T	probably benign	Het
Dhrs4	T	G	14: 55,487,650	L201V	probably damaging	Het
Dnah12	C	T	14: 26,710,248	A407V	probably benign	Het
Elavl3	T	A	9: 22,026,165		probably benign	Het
Elp4	T	C	2: 105,832,161	H88R	probably benign	Het
Ercc3	T	C	18: 32,261,297		probably benign	Het
Eri1	A	G	8: 35,469,181	S329P	possibly damaging	Het
Erich2	A	T	2: 70,512,773		probably benign	Het
Esyt1	A	G	10: 128,512,428	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,835,631	E141G	probably damaging	Het
Fat1	A	G	8: 45,033,390	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,309,495	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,729,750	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,659,538	D194G	probably damaging	Het
Gpr89	A	G	3: 96,905,210	I5T	probably benign	Het
Gpx6	A	T	13: 21,318,920	H168L	probably benign	Het
Gusb	T	C	5: 129,998,544	T307A	probably benign	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,601,445	D118G	probably benign	Het
Ipcef1	A	T	10: 6,935,173		probably null	Het
Kbtbd3	A	T	9: 4,330,276	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,459,885		probably null	Het
Lrp1	T	C	10: 127,539,011	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,323,662	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,659	M22K	probably benign	Het
Map1lc3b	C	T	8: 121,596,600	R70C	possibly damaging	Het
Meiob	T	A	17: 24,813,052	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330	Y183*	probably null	Het
Mrs2	T	C	13: 25,005,034	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,505,561	K151R	probably benign	Het
Neb	T	G	2: 52,328,734	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,650,078	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,904,978	T122I	probably damaging	Het
Nuggc	A	T	14: 65,624,133	N476I	probably damaging	Het
Obscn	T	A	11: 59,031,036	H5978L	probably benign	Het
Oc90	G	T	15: 65,876,521	A412D	probably damaging	Het
Olfr1080	A	T	2: 86,553,752	V124E	probably damaging	Het
Olfr1143	T	G	2: 87,802,868	S160A	probably benign	Het
Olfr1249	A	G	2: 89,630,014	S295P	possibly damaging	Het
Olfr168	T	A	16: 19,530,383	D179V	possibly damaging	Het
Olfr399	A	G	11: 74,053,824	*312Q	probably null	Het
Pdzrn3	A	T	6: 101,150,969	V912E	probably benign	Het
Phactr1	T	A	13: 43,094,990	Y387N	probably damaging	Het
Picalm	T	A	7: 90,130,651	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,941,077	I314F	possibly damaging	Het
Pold2	T	C	11: 5,874,175	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,524		probably benign	Het
Rac1	G	T	5: 143,507,338	A165E	probably damaging	Het
Rpap3	G	T	15: 97,686,483	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,526,888	T1012I	probably benign	Het
Sdad1	A	G	5: 92,309,823	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,859,912	K180T	probably damaging	Het
Sgpl1	T	C	10: 61,102,589	N475S	probably damaging	Het
Shroom3	T	C	5: 92,942,834	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,119,158	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,361,171	I36V	probably benign	Het
Smarca2	C	G	19: 26,631,101	P263A	possibly damaging	Het
Sp100	T	C	1: 85,663,521		probably benign	Het
Spag6l	A	G	16: 16,780,614		probably benign	Het
Sptbn1	T	C	11: 30,121,498	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,190,951	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,868,355	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,826,393		probably null	Het
Tnfrsf9	T	A	4: 150,933,104		probably null	Het
Tnni3k	T	C	3: 154,939,658	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,805,764	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,803,350	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,946,210	H541P	probably damaging	Het
Zfp84	A	G	7: 29,776,614	I244V	possibly damaging	Het
Zyx	A	G	6: 42,356,312	Y393C	probably damaging	Het

Other mutations in Olfr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Olfr8	APN	10	78955354	missense	possibly damaging	0.48
IGL01480:Olfr8	APN	10	78956144	utr 3 prime	probably benign
IGL02505:Olfr8	APN	10	78955933	missense	probably benign	0.02
IGL02543:Olfr8	APN	10	78955939	missense	probably damaging	1.00
IGL03323:Olfr8	APN	10	78955600	missense	probably benign
PIT4466001:Olfr8	UTSW	10	78955842	missense	probably benign	0.00
R1754:Olfr8	UTSW	10	78955697	missense	probably damaging	0.99
R1878:Olfr8	UTSW	10	78955805	missense	possibly damaging	0.62
R2760:Olfr8	UTSW	10	78956042	missense	probably damaging	0.99
R4202:Olfr8	UTSW	10	78955295	missense	probably benign
R4206:Olfr8	UTSW	10	78955283	missense	probably benign	0.00
R4517:Olfr8	UTSW	10	78956043	nonsense	probably null
R4613:Olfr8	UTSW	10	78956065	missense	probably damaging	1.00
R4799:Olfr8	UTSW	10	78956097	missense	probably null	0.92
R4979:Olfr8	UTSW	10	78955932	nonsense	probably null
R5008:Olfr8	UTSW	10	78956071	missense	probably damaging	1.00
R5700:Olfr8	UTSW	10	78955484	missense	probably damaging	1.00
R5876:Olfr8	UTSW	10	78955357	missense	probably benign	0.15
R6439:Olfr8	UTSW	10	78955984	missense	probably damaging	1.00
R6930:Olfr8	UTSW	10	78955781	missense	possibly damaging	0.84
R7110:Olfr8	UTSW	10	78955450	missense	possibly damaging	0.83
R7405:Olfr8	UTSW	10	78955697	missense	probably benign	0.14
R7524:Olfr8	UTSW	10	78955491	nonsense	probably null
R8198:Olfr8	UTSW	10	78955724	missense	probably damaging	0.97
R9227:Olfr8	UTSW	10	78956095	missense	possibly damaging	0.92
R9230:Olfr8	UTSW	10	78956095	missense	possibly damaging	0.92
Z1176:Olfr8	UTSW	10	78955219	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTGGGAACCTGCTCATCATC -3'
(R):5'- GCTTTGGACCACAGCAGAACTGAC -3'

Sequencing Primer
(F):5'- GGCCATTACATATGCAGACTG -3'
(R):5'- AGAACTGACATACACTCCAAGG -3'

Posted On

2014-04-13