Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02309:Olfr609'

287730

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr609

Ensembl Gene

ENSMUSG00000046396

Gene Name

olfactory receptor 609

Synonyms

MOR9-1, GA_x6K02T2PBJ9-6207735-6206776

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02309

Quality Score

Status

Chromosome

Chromosomal Location

103490025-103498062 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103491999 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 293 (I293K)

Ref Sequence

ENSEMBL: ENSMUSP00000149804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055787] [ENSMUST00000216075] [ENSMUST00000216360]

Predicted Effect

probably damaging
Transcript: ENSMUST00000055787
AA Change: I293K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051749
Gene: ENSMUSG00000046396
AA Change: I293K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	308	1.4e-119	PFAM
Pfam:7TM_GPCR_Srsx	34	169	2.2e-10	PFAM
Pfam:7tm_1	40	291	3.6e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216075
AA Change: I293K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216360
AA Change: I293K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,281,828	F111S	probably benign	Het
Afg1l	C	A	10: 42,454,378	V98F	possibly damaging	Het
Agk	T	A	6: 40,376,276	D191E	possibly damaging	Het
Akap5	A	G	12: 76,328,855	K354E	possibly damaging	Het
Aplp2	A	T	9: 31,167,683	M323K	possibly damaging	Het
Arhgap23	T	C	11: 97,466,001		probably benign	Het
Asl	A	G	5: 130,019,781	Y30H	probably damaging	Het
Asxl3	T	A	18: 22,522,453	H1173Q	probably benign	Het
Celsr2	C	T	3: 108,396,011	R2472H	probably damaging	Het
Clip1	T	A	5: 123,617,700	H950L	probably damaging	Het
Cx3cl1	A	T	8: 94,780,032	T222S	probably benign	Het
Cyp4a14	T	A	4: 115,491,632	N273Y	probably damaging	Het
Ddx52	T	A	11: 83,948,478	S214T	probably damaging	Het
Dennd2d	T	A	3: 106,494,968	M318K	probably benign	Het
Dock3	A	T	9: 106,913,152	D1E	probably damaging	Het
Farp1	C	T	14: 121,243,516	T443I	probably benign	Het
Gm2381	C	T	7: 42,822,609		probably benign	Het
Gpr87	T	A	3: 59,179,554	I178F	possibly damaging	Het
Grin2b	C	T	6: 135,736,472	E804K	probably damaging	Het
Gtf2h1	T	C	7: 46,816,388	L421P	probably damaging	Het
Haghl	T	G	17: 25,784,664	H56P	probably damaging	Het
Heatr3	T	C	8: 88,167,072	L489P	probably damaging	Het
Ighv6-6	A	T	12: 114,434,914	H77Q	probably benign	Het
Kdm2b	A	G	5: 122,947,820	S243P	probably damaging	Het
Lamc3	T	C	2: 31,914,604		probably benign	Het
Lgr4	T	C	2: 110,012,535		probably benign	Het
Lhx3	T	C	2: 26,201,373	Q308R	probably benign	Het
Lonp2	G	A	8: 86,634,863	E223K	probably damaging	Het
Lta4h	T	C	10: 93,474,490	F407L	probably damaging	Het
Mndal	C	T	1: 173,874,455	G94R	probably damaging	Het
Nrxn3	A	G	12: 89,976,407	N101S	probably damaging	Het
Olfr295	T	C	7: 86,585,497	V74A	possibly damaging	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Olfr912	A	G	9: 38,581,433	N52S	probably damaging	Het
Olfr930	A	G	9: 38,931,052	N294D	probably damaging	Het
Pknox1	T	G	17: 31,590,709	F96V	probably benign	Het
Psg25	T	G	7: 18,526,424	Q183P	probably damaging	Het
Ptgs2	A	G	1: 150,105,556	Y530C	probably damaging	Het
Sema3e	T	A	5: 14,224,390	D218E	probably damaging	Het
Shank1	G	A	7: 44,312,842	G46R	unknown	Het
Sidt1	T	C	16: 44,254,980	I672V	probably benign	Het
Slco1b2	T	A	6: 141,672,281	S486T	probably damaging	Het
Smchd1	T	C	17: 71,443,903	H340R	probably benign	Het
Smoc2	C	A	17: 14,375,527		probably benign	Het
Snapc1	A	G	12: 73,968,027	Y102C	probably damaging	Het
Spo11	A	G	2: 172,979,951	R20G	probably damaging	Het
Tlr1	A	T	5: 64,925,947	L429*	probably null	Het
Tmem229b-ps	T	C	10: 53,475,370		noncoding transcript	Het
Trim12c	T	A	7: 104,344,956	E230D	possibly damaging	Het
Ttc17	G	T	2: 94,342,661	N796K	probably benign	Het
Ttc37	A	G	13: 76,127,047	T238A	possibly damaging	Het
Ttn	A	G	2: 76,879,099		probably benign	Het
Ublcp1	A	T	11: 44,458,328		probably benign	Het
Usf3	C	T	16: 44,200,663	T11M	probably benign	Het
Vmn2r115	T	A	17: 23,345,139	M95K	probably benign	Het
Wapl	A	G	14: 34,744,863	T1160A	probably damaging	Het

Other mutations in Olfr609

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02213:Olfr609	APN	7	103492488	missense	probably benign	0.05
R0782:Olfr609	UTSW	7	103492515	missense	probably damaging	0.99
R0988:Olfr609	UTSW	7	103492747	missense	probably damaging	1.00
R4013:Olfr609	UTSW	7	103492633	missense	probably benign
R4600:Olfr609	UTSW	7	103492581	missense	probably damaging	0.99
R4735:Olfr609	UTSW	7	103492060	missense	possibly damaging	0.61
R4941:Olfr609	UTSW	7	103492251	missense	probably damaging	1.00
R5204:Olfr609	UTSW	7	103492540	missense	probably damaging	1.00
R5281:Olfr609	UTSW	7	103491973	missense	probably benign	0.00
R5941:Olfr609	UTSW	7	103492720	missense	possibly damaging	0.95
R6319:Olfr609	UTSW	7	103492725	missense	possibly damaging	0.84
R6505:Olfr609	UTSW	7	103492651	missense	probably damaging	1.00
R7258:Olfr609	UTSW	7	103492589	missense	probably damaging	1.00
X0065:Olfr609	UTSW	7	103491918	makesense	probably null
Z1177:Olfr609	UTSW	7	103492610	missense	probably benign

Posted On

2015-04-16