Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Olfr8'

296239

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr8

Ensembl Gene

ENSMUSG00000094080

Gene Name

olfactory receptor 8

Synonyms

MOR139-5P, GA_x6K02T2QGN0-2857086-2856154

Accession Numbers

Essential gene?

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

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

78950636-78958378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78955933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 243 (V243F)

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: V243F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: V243F

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: V243F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: V243F

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: V243F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216819

Coding Region Coverage

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,616,814 (GRCm38)	L68M	probably damaging	Het
Abca13	T	G	11: 9,581,498 (GRCm38)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,245,761 (GRCm38)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,795,994 (GRCm38)	A252E	probably damaging	Het
Ap1b1	C	T	11: 5,031,700 (GRCm38)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,394,000 (GRCm38)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,000,863 (GRCm38)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,235,075 (GRCm38)	V622M	probably damaging	Het
Aup1	A	G	6: 83,055,277 (GRCm38)	T142A	probably benign	Het
Bcl6	A	T	16: 23,977,569 (GRCm38)	I36N	probably damaging	Het
Best1	A	G	19: 9,989,150 (GRCm38)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 98,131,196 (GRCm38)	E322D	possibly damaging	Het
Ccdc94	G	T	17: 55,962,051 (GRCm38)	G53V	probably damaging	Het
Cd300ld2	A	T	11: 115,013,687 (GRCm38)	M118K	probably benign	Het
Cdh9	T	C	15: 16,855,989 (GRCm38)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,743,070 (GRCm38)	N436K	probably damaging	Het
Chil6	T	A	3: 106,405,962 (GRCm38)	I24F	probably benign	Het
Chmp2a	T	A	7: 13,033,855 (GRCm38)	K48*	probably null	Het
Col19a1	C	T	1: 24,300,584 (GRCm38)		probably benign	Het
Cops7b	C	A	1: 86,592,321 (GRCm38)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,769,156 (GRCm38)	L133H	probably damaging	Het
Dirc2	G	T	16: 35,735,558 (GRCm38)	D177E	probably benign	Het
Dkc1	T	C	X: 75,108,733 (GRCm38)		probably benign	Het
Erlec1	A	G	11: 30,950,767 (GRCm38)	Y134H	probably damaging	Het
F8	C	A	X: 75,379,598 (GRCm38)		probably benign	Het
Fus	G	A	7: 127,981,507 (GRCm38)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,253,106 (GRCm38)	D9E	probably benign	Het
Gm15821	T	C	17: 34,214,285 (GRCm38)		probably benign	Het
Gm5117	C	A	8: 31,738,316 (GRCm38)		noncoding transcript	Het
H2afy	A	G	13: 56,074,330 (GRCm38)	V336A	probably damaging	Het
H2-Q6	A	G	17: 35,425,176 (GRCm38)	I45V	probably benign	Het
Hectd1	A	G	12: 51,800,713 (GRCm38)		probably null	Het
Ifi204	T	C	1: 173,755,654 (GRCm38)	K333E	probably benign	Het
Ildr1	G	A	16: 36,716,164 (GRCm38)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,547,218 (GRCm38)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,060,855 (GRCm38)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,860,946 (GRCm38)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,655,457 (GRCm38)	I389T	possibly damaging	Het
Mars	C	A	10: 127,304,244 (GRCm38)	E414*	probably null	Het
Mpg	T	C	11: 32,230,042 (GRCm38)	V190A	probably damaging	Het
Myh15	A	G	16: 49,117,263 (GRCm38)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,296,263 (GRCm38)		probably benign	Het
Nmur1	T	C	1: 86,386,335 (GRCm38)	D370G	probably benign	Het
Npsr1	A	G	9: 24,098,282 (GRCm38)	E28G	probably benign	Het
Olfr569	T	C	7: 102,887,607 (GRCm38)	E182G	probably damaging	Het
Olfr679	A	T	7: 105,086,333 (GRCm38)	I206L	probably benign	Het
Olfr876	G	A	9: 37,804,331 (GRCm38)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,151,938 (GRCm38)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 109,633,216 (GRCm38)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,957,139 (GRCm38)	K685N	probably damaging	Het
Prim1	T	A	10: 128,029,783 (GRCm38)	*419R	probably null	Het
Ptk2b	G	T	14: 66,154,243 (GRCm38)	N905K	probably damaging	Het
Rbm34	T	C	8: 126,949,321 (GRCm38)	I395V	probably benign	Het
Rfx1	A	G	8: 84,095,809 (GRCm38)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm38)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,436,659 (GRCm38)	Y169H	possibly damaging	Het
Susd4	C	A	1: 182,892,080 (GRCm38)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,511,682 (GRCm38)	G676D	probably damaging	Het
Tec	T	C	5: 72,789,244 (GRCm38)	K47E	probably damaging	Het
Tenm2	C	A	11: 36,051,916 (GRCm38)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,987,741 (GRCm38)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,362,419 (GRCm38)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,976,451 (GRCm38)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,425,580 (GRCm38)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,151,974 (GRCm38)	S343N	probably benign	Het
Zfp143	A	T	7: 110,091,786 (GRCm38)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,689,800 (GRCm38)	I42V	probably benign	Het
Zswim5	A	T	4: 116,962,552 (GRCm38)	M385L	probably benign	Het

Other mutations in Olfr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Olfr8	APN	10	78,955,354 (GRCm38)	missense	possibly damaging	0.48
IGL01480:Olfr8	APN	10	78,956,144 (GRCm38)	utr 3 prime	probably benign
IGL02543:Olfr8	APN	10	78,955,939 (GRCm38)	missense	probably damaging	1.00
IGL03323:Olfr8	APN	10	78,955,600 (GRCm38)	missense	probably benign
PIT4466001:Olfr8	UTSW	10	78,955,842 (GRCm38)	missense	probably benign	0.00
R1496:Olfr8	UTSW	10	78,955,848 (GRCm38)	missense	probably benign	0.41
R1754:Olfr8	UTSW	10	78,955,697 (GRCm38)	missense	probably damaging	0.99
R1878:Olfr8	UTSW	10	78,955,805 (GRCm38)	missense	possibly damaging	0.62
R2760:Olfr8	UTSW	10	78,956,042 (GRCm38)	missense	probably damaging	0.99
R4202:Olfr8	UTSW	10	78,955,295 (GRCm38)	missense	probably benign
R4206:Olfr8	UTSW	10	78,955,283 (GRCm38)	missense	probably benign	0.00
R4517:Olfr8	UTSW	10	78,956,043 (GRCm38)	nonsense	probably null
R4613:Olfr8	UTSW	10	78,956,065 (GRCm38)	missense	probably damaging	1.00
R4799:Olfr8	UTSW	10	78,956,097 (GRCm38)	missense	probably null	0.92
R4979:Olfr8	UTSW	10	78,955,932 (GRCm38)	nonsense	probably null
R5008:Olfr8	UTSW	10	78,956,071 (GRCm38)	missense	probably damaging	1.00
R5700:Olfr8	UTSW	10	78,955,484 (GRCm38)	missense	probably damaging	1.00
R5876:Olfr8	UTSW	10	78,955,357 (GRCm38)	missense	probably benign	0.15
R6439:Olfr8	UTSW	10	78,955,984 (GRCm38)	missense	probably damaging	1.00
R6930:Olfr8	UTSW	10	78,955,781 (GRCm38)	missense	possibly damaging	0.84
R7110:Olfr8	UTSW	10	78,955,450 (GRCm38)	missense	possibly damaging	0.83
R7405:Olfr8	UTSW	10	78,955,697 (GRCm38)	missense	probably benign	0.14
R7524:Olfr8	UTSW	10	78,955,491 (GRCm38)	nonsense	probably null
R8198:Olfr8	UTSW	10	78,955,724 (GRCm38)	missense	probably damaging	0.97
R9227:Olfr8	UTSW	10	78,956,095 (GRCm38)	missense	possibly damaging	0.92
R9230:Olfr8	UTSW	10	78,956,095 (GRCm38)	missense	possibly damaging	0.92
Z1176:Olfr8	UTSW	10	78,955,219 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16