Mutagenetix > Incidental Mutations

Incidental Mutation 'R3894:Olfr1284'

310433

Institutional Source

Beutler Lab

Gene Symbol

Olfr1284

Ensembl Gene

ENSMUSG00000108931

Gene Name

olfactory receptor 1284

Synonyms

MOR245-13, GA_x6K02T2Q125-72430580-72431515

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R3894 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

111375522-111380613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111379637 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 212 (F212L)

Ref Sequence

ENSEMBL: ENSMUSP00000147014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062407] [ENSMUST00000209096]

Predicted Effect

probably benign
Transcript: ENSMUST00000062407
AA Change: F212L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000052153
Gene: ENSMUSG00000108931
AA Change: F212L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	7.2e-45	PFAM
Pfam:7TM_GPCR_Srsx	34	302	2.4e-5	PFAM
Pfam:7tm_1	41	287	2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209096
AA Change: F212L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,853,939	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,696,398	Y457*	probably null	Het
Alpk3	C	T	7: 81,078,390	P423S	possibly damaging	Het
Aox2	A	T	1: 58,334,678		probably null	Het
Crebbp	T	C	16: 4,096,102	T1316A	probably benign	Het
Cul3	C	A	1: 80,283,690	V273F	probably damaging	Het
Dnah1	G	T	14: 31,307,028	R582S	probably benign	Het
Fbxl2	T	C	9: 114,003,193	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,728,476	D295G	probably benign	Het
Gdf7	A	G	12: 8,298,845	S151P	unknown	Het
Gm10277	T	C	11: 77,786,001		probably benign	Het
Hdac4	T	C	1: 91,970,968	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,443,237	E259G	probably benign	Het
Ifi204	T	C	1: 173,749,208	H609R	possibly damaging	Het
Ift80	T	C	3: 68,917,999	D541G	probably damaging	Het
Il18r1	A	T	1: 40,474,874	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,473,949	G158S	probably damaging	Het
Mesd	T	A	7: 83,897,785	L152H	probably damaging	Het
Morf4l1	A	T	9: 90,094,448	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mut	G	A	17: 40,955,139	C531Y	probably damaging	Het
Myo15	A	G	11: 60,504,319	T2480A	probably benign	Het
Olfr1317	T	C	2: 112,142,014	I23T	probably benign	Het
Olfr1387	G	A	11: 49,459,939	G87R	possibly damaging	Het
Olfr180	A	G	16: 58,916,339	F101L	probably benign	Het
Olfr437	A	T	6: 43,167,258	I67F	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Pcbp4	A	T	9: 106,461,371	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Rad50	T	A	11: 53,678,870	I905L	probably benign	Het
Rp1l1	T	C	14: 64,029,307	S781P	probably benign	Het
Rps3	C	T	7: 99,479,896	R173H	probably benign	Het
Rtn3	T	A	19: 7,435,085	T86S	probably damaging	Het
Sdha	A	T	13: 74,334,391	S268T	probably benign	Het
Sgo2b	A	T	8: 63,928,733	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,355,288	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,464,720	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,566,442	V165A	probably benign	Het
Slco3a1	A	G	7: 74,284,613	W604R	probably damaging	Het
Tet2	A	G	3: 133,469,477	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 122,921,319		probably null	Het
Tsga13	A	G	6: 30,912,263	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,329,590	T317A	probably benign	Het
Zcchc4	A	T	5: 52,784,100	D79V	probably damaging	Het

Other mutations in Olfr1284

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03024:Olfr1284	APN	2	111379590	missense	possibly damaging	0.94
R0526:Olfr1284	UTSW	2	111379492	missense	possibly damaging	0.95
R0731:Olfr1284	UTSW	2	111379293	missense	probably damaging	0.99
R1762:Olfr1284	UTSW	2	111379573	missense	probably damaging	0.99
R1765:Olfr1284	UTSW	2	111379146	missense	probably benign	0.39
R3106:Olfr1284	UTSW	2	111379495	missense	probably benign	0.23
R3803:Olfr1284	UTSW	2	111379293	missense	possibly damaging	0.95
R4005:Olfr1284	UTSW	2	111379743	missense	probably benign	0.05
R4227:Olfr1284	UTSW	2	111379065	missense	probably benign
R4637:Olfr1284	UTSW	2	111379582	missense	probably benign	0.03
R4707:Olfr1284	UTSW	2	111379645	missense	probably damaging	1.00
R4762:Olfr1284	UTSW	2	111379737	missense	probably damaging	1.00
R5150:Olfr1284	UTSW	2	111379253	missense	probably damaging	1.00
R5309:Olfr1284	UTSW	2	111379834	missense	possibly damaging	0.52
R5312:Olfr1284	UTSW	2	111379834	missense	possibly damaging	0.52
R6554:Olfr1284	UTSW	2	111379159	missense	possibly damaging	0.95
R6913:Olfr1284	UTSW	2	111379002	start codon destroyed	probably null	0.03
R6980:Olfr1284	UTSW	2	111379275	missense	possibly damaging	0.77
R6995:Olfr1284	UTSW	2	111379363	missense	probably damaging	1.00
R7168:Olfr1284	UTSW	2	111379879	missense	probably damaging	1.00
R7332:Olfr1284	UTSW	2	111379393	missense	not run
R7464:Olfr1284	UTSW	2	111379198	missense	probably damaging	1.00
R8125:Olfr1284	UTSW	2	111379741	missense	probably damaging	0.99

Predicted Primers

Posted On

2015-04-17