Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Olfr8'

298269

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 #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

78950636-78958378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78955939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 245 (H245N)

Ref Sequence

ENSEMBL: ENSMUSP00000148856 (fasta)

Gene Model

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

AlphaFold

Q60892

Predicted Effect

probably damaging
Transcript: ENSMUST00000081571
AA Change: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: H245N

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 damaging
Transcript: ENSMUST00000203851
AA Change: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: H245N

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 damaging
Transcript: ENSMUST00000214952
AA Change: H245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,918,095 (GRCm38)	A193S	probably damaging	Het
Adcy4	T	C	14: 55,769,170 (GRCm38)	T1069A	probably benign	Het
Arg2	A	T	12: 79,150,759 (GRCm38)	I184F	probably benign	Het
Asb18	G	A	1: 90,014,391 (GRCm38)	P63S	probably damaging	Het
Cd163l1	A	G	7: 140,220,578 (GRCm38)	M91V	probably benign	Het
Cep85	T	C	4: 134,156,323 (GRCm38)	H85R	possibly damaging	Het
Chfr	A	G	5: 110,143,547 (GRCm38)		probably null	Het
Cog2	A	G	8: 124,529,959 (GRCm38)	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,461,068 (GRCm38)	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183 (GRCm38)	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,987,240 (GRCm38)	Y435C	probably damaging	Het
Dsc3	A	T	18: 19,965,828 (GRCm38)	C765S	probably benign	Het
Egfem1	T	A	3: 29,668,380 (GRCm38)	D362E	probably benign	Het
Gm10093	A	G	17: 78,491,874 (GRCm38)	E98G	probably damaging	Het
Gm28040	A	T	1: 133,319,331 (GRCm38)	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,299,043 (GRCm38)	M22T	probably benign	Het
Hipk2	A	G	6: 38,703,501 (GRCm38)	I968T	possibly damaging	Het
Hlx	T	G	1: 184,730,751 (GRCm38)	S235R	probably damaging	Het
Jag1	T	C	2: 137,091,947 (GRCm38)		probably benign	Het
Kdr	A	G	5: 75,964,947 (GRCm38)		probably benign	Het
Klhl3	T	C	13: 58,018,871 (GRCm38)	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,461,612 (GRCm38)		probably benign	Het
Large1	T	A	8: 73,048,414 (GRCm38)	M223L	probably benign	Het
Lrp1b	T	C	2: 40,870,401 (GRCm38)	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,108,571 (GRCm38)	D582G	probably benign	Het
Nedd9	T	C	13: 41,316,735 (GRCm38)	D314G	probably damaging	Het
Nip7	T	C	8: 107,058,193 (GRCm38)		probably benign	Het
Olfr1408	T	G	1: 173,130,334 (GRCm38)	K294N	probably damaging	Het
Olfr629	A	T	7: 103,740,503 (GRCm38)	C246S	possibly damaging	Het
P3h1	T	C	4: 119,237,856 (GRCm38)		probably benign	Het
Pcp4l1	C	T	1: 171,175,564 (GRCm38)		probably benign	Het
Plekhm2	C	T	4: 141,642,019 (GRCm38)	G118D	probably benign	Het
Prkg1	T	C	19: 30,624,734 (GRCm38)	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,154,687 (GRCm38)	L534P	possibly damaging	Het
Rnf123	A	G	9: 108,066,348 (GRCm38)	S563P	probably damaging	Het
Sdk2	A	T	11: 113,868,921 (GRCm38)	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,528,689 (GRCm38)	I655T	possibly damaging	Het
Syne1	T	C	10: 5,043,618 (GRCm38)	K524R	probably damaging	Het
Tanc1	G	T	2: 59,833,258 (GRCm38)	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,239,171 (GRCm38)	A135V	probably benign	Het
Tenm3	A	C	8: 48,298,956 (GRCm38)	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,165,103 (GRCm38)	V1247I	probably benign	Het
Treml1	A	G	17: 48,360,431 (GRCm38)	T115A	possibly damaging	Het
Ttn	T	C	2: 76,709,962 (GRCm38)	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,423,483 (GRCm38)	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,524,904 (GRCm38)	G285D	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148 (GRCm38)	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,065,821 (GRCm38)	S194A	probably benign	Het
Wdr1	G	A	5: 38,545,822 (GRCm38)	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,558,896 (GRCm38)		probably benign	Het
Zfp668	A	T	7: 127,868,322 (GRCm38)	C27*	probably null	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
IGL02505:Olfr8	APN	10	78,955,933 (GRCm38)	missense	probably benign	0.02
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