Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02313:Olfr836'

287868

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr836

Ensembl Gene

ENSMUSG00000059303

Gene Name

olfactory receptor 836

Synonyms

MOR152-3, GA_x6K02T2PVTD-12857805-12858749

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

19120382-19125938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19121375 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 140 (N140I)

Ref Sequence

ENSEMBL: ENSMUSP00000074514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074986] [ENSMUST00000212730] [ENSMUST00000215981]

Predicted Effect

probably damaging
Transcript: ENSMUST00000074986
AA Change: N140I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074514
Gene: ENSMUSG00000059303
AA Change: N140I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.2e-50	PFAM
Pfam:7TM_GPCR_Srsx	38	210	9.6e-6	PFAM
Pfam:7tm_1	44	293	2.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212730
AA Change: N137I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215981
AA Change: N137I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Krt31	A	G	11: 100,048,396	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	possibly damaging	Het

Other mutations in Olfr836

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Olfr836	APN	9	19121232	missense	possibly damaging	0.88
IGL01316:Olfr836	APN	9	19121422	missense	probably benign	0.10
IGL01412:Olfr836	APN	9	19121599	missense	probably benign	0.00
IGL01815:Olfr836	APN	9	19121326	missense	probably damaging	1.00
IGL02003:Olfr836	APN	9	19121065	missense	probably benign	0.06
IGL03185:Olfr836	APN	9	19121738	missense	probably damaging	1.00
IGL03186:Olfr836	APN	9	19121904	missense	probably benign	0.16
R1337:Olfr836	UTSW	9	19121803	missense	probably benign
R2267:Olfr836	UTSW	9	19121441	missense	probably benign	0.22
R3969:Olfr836	UTSW	9	19121660	missense	probably benign	0.00
R4695:Olfr836	UTSW	9	19121010	missense	probably null	0.04
R4976:Olfr836	UTSW	9	19121501	missense	probably damaging	1.00
R5176:Olfr836	UTSW	9	19121360	missense	probably damaging	1.00
R5379:Olfr836	UTSW	9	19121077	missense	probably damaging	1.00
R5638:Olfr836	UTSW	9	19121380	missense	probably benign	0.00
R6084:Olfr836	UTSW	9	19121327	missense	probably damaging	1.00
R6236:Olfr836	UTSW	9	19121113	missense	possibly damaging	0.92
R6329:Olfr836	UTSW	9	19120957	start codon destroyed	probably benign	0.08
R7151:Olfr836	UTSW	9	19121741	missense	possibly damaging	0.91
R7326:Olfr836	UTSW	9	19121669	missense	probably benign	0.42

Posted On

2015-04-16