Mutagenetix > Incidental Mutations

Incidental Mutation 'F6893:Olfr350'

228

Institutional Source

Beutler Lab

Gene Symbol

Olfr350

Ensembl Gene

ENSMUSG00000050015

Gene Name

olfactory receptor 350

Synonyms

MOR136-13, GA_x6K02T2NLDC-33544602-33545540

Accession Numbers

Genbank: NM_146627; MGI: 3030184

Is this an essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

F6893 (G3) of strain busy

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36846310-36851702 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36850807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 254 (T254A)

Ref Sequence

ENSEMBL: ENSMUSP00000149667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055130] [ENSMUST00000214457] [ENSMUST00000215100]

AlphaFold

Q8VFP8

Predicted Effect

probably benign
Transcript: ENSMUST00000055130
AA Change: T254A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000053105
Gene: ENSMUSG00000050015
AA Change: T254A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.3e-61	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.3e-7	PFAM
Pfam:7tm_1	41	290	3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214457
AA Change: T254A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000215100
AA Change: T254A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.1719

Coding Region Coverage

1x: 88.7%
3x: 74.0%

Validation Efficiency

88% (165/188)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,325,038	V1638M	probably damaging	Het
Agrn	C	T	4: 156,174,179	R972Q	probably benign	Het
Anxa3	T	C	5: 96,824,994		probably benign	Het
Bpifa6	G	T	2: 153,987,158	D202Y	probably damaging	Het
Ccdc15	G	A	9: 37,315,640	T346I	probably damaging	Homo
Celsr3	G	A	9: 108,835,067	R1731H	probably benign	Het
Ces4a	A	G	8: 105,147,227	R443G	possibly damaging	Het
Chd2	T	C	7: 73,507,872	Q175R	possibly damaging	Het
Dpyd	T	A	3: 118,804,134		probably null	Het
Dscam	G	T	16: 97,056,460	H117N	possibly damaging	Het
F13a1	A	G	13: 36,972,025	Y205H	probably damaging	Het
Fat3	A	C	9: 16,006,789	L1446R	probably damaging	Homo
Golga4	T	C	9: 118,553,457	L515S	probably damaging	Het
Hoxb1	A	T	11: 96,365,902	T26S	probably benign	Het
Igsf10	T	G	3: 59,331,060	T567P	probably damaging	Het
Lamb2	T	C	9: 108,482,556	V365A	probably benign	Het
Mepe	A	G	5: 104,337,376	I127M	possibly damaging	Het
Mpi	A	T	9: 57,546,549	M230K	probably benign	Homo
Myh4	A	G	11: 67,255,457	D1447G	probably null	Homo
Olfr161	A	G	16: 3,593,163	I256V	possibly damaging	Het
Panx2	T	C	15: 89,068,010	Y227H	probably damaging	Homo
Pdzd7	A	G	19: 45,036,734	W441R	probably damaging	Het
Poldip2	A	G	11: 78,519,194	I267M	probably damaging	Homo
Pros1	T	A	16: 62,924,639	V539E	probably damaging	Het
Sacs	T	C	14: 61,212,976	M4157T	probably benign	Het
Slc45a3	A	G	1: 131,981,337	E424G	probably benign	Homo
Slc9a1	A	G	4: 133,422,146	E761G	probably benign	Homo
Stab2	G	A	10: 86,855,171	P2178L	probably damaging	Het
Syt4	C	T	18: 31,444,221	V27I	possibly damaging	Homo
Thumpd1	T	A	7: 119,720,576	K56*	probably null	Het
Tpr	A	G	1: 150,393,562	K19E	possibly damaging	Homo
Ttll10	A	G	4: 156,048,318	I74T	probably benign	Het
Txnrd1	C	T	10: 82,866,989	Q95*	probably null	Homo
Zc3h7b	A	G	15: 81,778,671	E421G	possibly damaging	Homo
Zc3hc1	G	T	6: 30,387,526	D51E	probably benign	Homo

Other mutations in Olfr350

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Olfr350	APN	2	36850270	missense	probably damaging	1.00
IGL01113:Olfr350	APN	2	36850619	missense	probably damaging	1.00
IGL01393:Olfr350	APN	2	36850541	missense	probably benign	0.01
IGL02302:Olfr350	APN	2	36850703	missense	probably benign	0.02
IGL02316:Olfr350	APN	2	36850282	missense	probably damaging	1.00
BB007:Olfr350	UTSW	2	36850273	missense	probably damaging	1.00
BB017:Olfr350	UTSW	2	36850273	missense	probably damaging	1.00
PIT4402001:Olfr350	UTSW	2	36850304	missense	probably benign
R0312:Olfr350	UTSW	2	36850360	missense	probably benign	0.01
R0525:Olfr350	UTSW	2	36850190	missense	probably damaging	1.00
R0557:Olfr350	UTSW	2	36850748	missense	possibly damaging	0.95
R0665:Olfr350	UTSW	2	36850190	missense	probably damaging	1.00
R2019:Olfr350	UTSW	2	36850406	missense	possibly damaging	0.95
R2107:Olfr350	UTSW	2	36850343	missense	possibly damaging	0.54
R2108:Olfr350	UTSW	2	36850343	missense	possibly damaging	0.54
R2848:Olfr350	UTSW	2	36850799	missense	probably damaging	1.00
R3964:Olfr350	UTSW	2	36850717	missense	probably benign	0.12
R4822:Olfr350	UTSW	2	36850876	missense	probably benign	0.10
R4907:Olfr350	UTSW	2	36850258	missense	probably benign	0.28
R5134:Olfr350	UTSW	2	36850476	missense	probably benign	0.03
R5144:Olfr350	UTSW	2	36850144	missense	probably benign
R5702:Olfr350	UTSW	2	36850934	missense	probably damaging	1.00
R5727:Olfr350	UTSW	2	36850532	missense	possibly damaging	0.80
R5786:Olfr350	UTSW	2	36850049	start codon destroyed	probably null	0.98
R6179:Olfr350	UTSW	2	36850834	missense	possibly damaging	0.59
R6862:Olfr350	UTSW	2	36850222	missense	possibly damaging	0.95
R7258:Olfr350	UTSW	2	36850340	missense	probably damaging	0.99
R7307:Olfr350	UTSW	2	36850125	missense	probably benign	0.00
R7353:Olfr350	UTSW	2	36850069	missense	probably benign
R7412:Olfr350	UTSW	2	36850466	missense	probably benign	0.28
R7851:Olfr350	UTSW	2	36850416	nonsense	probably null
R7930:Olfr350	UTSW	2	36850273	missense	probably damaging	1.00
R8005:Olfr350	UTSW	2	36850144	missense	probably benign
R8346:Olfr350	UTSW	2	36850339	missense	probably benign	0.02
R8692:Olfr350	UTSW	2	36850084	missense	probably benign	0.00
R9120:Olfr350	UTSW	2	36850131	nonsense	probably null
R9318:Olfr350	UTSW	2	36850553	missense	probably benign	0.12
Z1177:Olfr350	UTSW	2	36850239	missense	probably damaging	0.99
Z1177:Olfr350	UTSW	2	36850925	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 760 of the Olfr350 transcript. The mutated nucleotide causes a threonine to alanine substitution at amino acid 254 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Olfr350 gene encodes the 312 amino acid olfactory receptor 350. Olfactory receptors are G-protein coupled receptors (GPCRs). Like other GPCRs, OLFR350 contains seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus (Uniprot Q8VFP8).

The T254A change is predicted to be benign by the PolyPhen program.

Posted On

2010-05-06