Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02651:Olfr1247'

302144

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr1247

Ensembl Gene

ENSMUSG00000075081

Gene Name

olfactory receptor 1247

Synonyms

MOR231-6, GA_x6K02T2Q125-51051555-51050611

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02651

Quality Score

Status

Chromosome

Chromosomal Location

89604959-89614130 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89609498 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 201 (N201K)

Ref Sequence

ENSEMBL: ENSMUSP00000149408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099771] [ENSMUST00000111532] [ENSMUST00000216424]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099771
AA Change: N201K

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: N201K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	4.9e-29	PFAM
Pfam:7tm_4	137	278	4.2e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111532
AA Change: N201K

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: N201K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.2e-48	PFAM
Pfam:7tm_1	39	285	1.6e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216424
AA Change: N201K

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,932,506	G233S	probably benign	Het
Abcc1	T	A	16: 14,466,126	C1202S	probably benign	Het
Acaca	C	T	11: 84,245,204		probably benign	Het
Ap3b1	T	A	13: 94,477,021	F676Y	probably damaging	Het
Arhgef11	C	A	3: 87,698,864	Q309K	probably damaging	Het
Asgr1	T	C	11: 70,057,130	Y80H	possibly damaging	Het
Atp13a5	A	T	16: 29,334,091		probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp8b2	A	C	3: 89,954,589		probably null	Het
Btnl2	A	G	17: 34,356,222	M1V	probably null	Het
Cpsf3	T	A	12: 21,293,297	M121K	probably damaging	Het
Creb3l3	A	G	10: 81,084,834	I454T	probably benign	Het
Cyp2d12	A	G	15: 82,556,740	E153G	probably damaging	Het
Dnah5	A	G	15: 28,350,622	I2597V	probably benign	Het
Ercc5	C	A	1: 44,156,944	S32R	probably damaging	Het
Fchsd2	T	A	7: 101,277,600	N656K	possibly damaging	Het
Fga	G	A	3: 83,028,534	E23K	probably benign	Het
Fn1	T	C	1: 71,597,676	T1925A	possibly damaging	Het
Fstl5	A	T	3: 76,593,534	E423D	probably damaging	Het
Glg1	C	T	8: 111,160,727	M465I	possibly damaging	Het
H2-M10.4	C	A	17: 36,460,656	R210L	probably benign	Het
Hbb-y	T	G	7: 103,852,750	K105Q	probably benign	Het
Hspg2	A	T	4: 137,557,445		probably benign	Het
Ipo11	T	C	13: 106,875,606	Y556C	probably damaging	Het
Itpr3	A	G	17: 27,106,398	M1322V	probably damaging	Het
Jhy	A	G	9: 40,917,335	L425P	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Ms4a6c	A	T	19: 11,478,305	E159D	possibly damaging	Het
Msh6	A	T	17: 87,989,515	L1213F	probably damaging	Het
Npy1r	A	C	8: 66,705,023	R328S	possibly damaging	Het
Olfr988	A	C	2: 85,353,050	L292R	probably damaging	Het
Pcdhb18	T	G	18: 37,491,181	Y521*	probably null	Het
Pkhd1l1	A	T	15: 44,483,814	Y192F	probably damaging	Het
Rdh12	T	A	12: 79,222,052	I301N	probably damaging	Het
Rptor	T	C	11: 119,892,612	V1144A	possibly damaging	Het
Sap25	T	C	5: 137,642,370	F171L	possibly damaging	Het
Senp5	A	G	16: 31,990,079	L92P	probably benign	Het
Sfmbt1	T	C	14: 30,815,537	S736P	probably damaging	Het
Tacr1	T	C	6: 82,492,641	S169P	probably damaging	Het
Tbc1d21	A	T	9: 58,363,101	Y130*	probably null	Het
Tle2	G	A	10: 81,586,889	G428D	probably damaging	Het
Tmem117	T	A	15: 95,094,561	N367K	probably damaging	Het
Tmem210	A	G	2: 25,289,089	T130A	possibly damaging	Het
Ttn	T	G	2: 76,850,024		probably benign	Het
Ttyh1	T	C	7: 4,124,679	L122P	probably damaging	Het
Vmn2r60	T	C	7: 42,195,586	F791S	probably damaging	Het
Vps13d	A	T	4: 145,164,559	N575K	probably benign	Het
Vps8	T	C	16: 21,517,336	V746A	probably damaging	Het
Wdfy3	A	T	5: 101,896,475	M1888K	probably benign	Het
Zfp595	T	C	13: 67,320,953	D3G	probably benign	Het

Other mutations in Olfr1247

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Olfr1247	APN	2	89609847	missense	probably benign	0.00
IGL01337:Olfr1247	APN	2	89609376	missense	probably damaging	0.97
IGL02537:Olfr1247	APN	2	89609395	missense	possibly damaging	0.88
IGL02734:Olfr1247	APN	2	89609959	missense	probably benign	0.04
IGL03177:Olfr1247	APN	2	89609482	missense	probably benign	0.03
IGL03184:Olfr1247	APN	2	89609568	missense	probably damaging	1.00
R0207:Olfr1247	UTSW	2	89609863	missense	probably damaging	0.97
R0278:Olfr1247	UTSW	2	89609763	missense	probably damaging	1.00
R0278:Olfr1247	UTSW	2	89609764	missense	probably damaging	1.00
R0601:Olfr1247	UTSW	2	89609220	missense	probably benign	0.00
R0633:Olfr1247	UTSW	2	89609374	missense	probably benign	0.10
R1824:Olfr1247	UTSW	2	89609349	missense	probably damaging	1.00
R1863:Olfr1247	UTSW	2	89609709	nonsense	probably null
R2073:Olfr1247	UTSW	2	89609478	missense	probably benign	0.01
R2074:Olfr1247	UTSW	2	89609478	missense	probably benign	0.01
R2075:Olfr1247	UTSW	2	89609478	missense	probably benign	0.01
R3921:Olfr1247	UTSW	2	89609509	missense	probably benign	0.00
R4559:Olfr1247	UTSW	2	89609699	missense	probably damaging	0.99
R5128:Olfr1247	UTSW	2	89609303	missense	probably damaging	1.00
R5140:Olfr1247	UTSW	2	89609283	missense	probably damaging	1.00
R5426:Olfr1247	UTSW	2	89609739	missense	probably damaging	1.00
R5896:Olfr1247	UTSW	2	89609323	missense	probably damaging	0.98
R5902:Olfr1247	UTSW	2	89609251	missense	probably damaging	1.00
R6478:Olfr1247	UTSW	2	89609446	missense	probably damaging	1.00
R7143:Olfr1247	UTSW	2	89610019	missense	probably benign	0.00
R7221:Olfr1247	UTSW	2	89609928	missense	probably damaging	1.00
R7599:Olfr1247	UTSW	2	89609227	missense	possibly damaging	0.89

Posted On

2015-04-16