Mutagenetix > Incidental Mutation

Incidental Mutation 'R3409:Olfr1231'

258402

Institutional Source

Beutler Lab

Gene Symbol

Olfr1231

Ensembl Gene

ENSMUSG00000075093

Gene Name

olfactory receptor 1231

Synonyms

GA_x6K02T2Q125-50748233-50747292, MOR235-2

MMRRC Submission

040627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R3409 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89299786-89307074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89303373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 73 (F73S)

Ref Sequence

ENSEMBL: ENSMUSP00000150310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099786] [ENSMUST00000216144]

AlphaFold

Q7TQZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000099786
AA Change: F73S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: F73S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	306	7e-43	PFAM
Pfam:7tm_1	42	288	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216144
AA Change: F73S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 91.4%

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
Adgra3	A	G	5: 50,001,930 (GRCm38)	V326A	probably damaging	Het
AI429214	C	T	8: 36,993,917 (GRCm38)	S73L	probably benign	Het
Atp13a4	G	T	16: 29,413,749 (GRCm38)	T923K	probably damaging	Het
Ccdc150	A	G	1: 54,356,773 (GRCm38)	D805G	probably benign	Het
Ccdc185	T	G	1: 182,748,748 (GRCm38)	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,486,006 (GRCm38)	C10S	probably damaging	Het
Cpsf1	G	T	15: 76,601,781 (GRCm38)	Y396*	probably null	Het
Dnpep	A	G	1: 75,316,626 (GRCm38)	V33A	probably damaging	Het
Fbn1	G	A	2: 125,412,665 (GRCm38)	A226V	possibly damaging	Het
Frmd4a	A	T	2: 4,153,028 (GRCm38)		probably benign	Het
Gipr	A	G	7: 19,159,794 (GRCm38)	V318A	possibly damaging	Het
Gsdmc4	A	G	15: 63,892,046 (GRCm38)	S401P	probably benign	Het
H2-M10.6	T	A	17: 36,814,001 (GRCm38)	V270E	probably damaging	Het
Klhl7	G	T	5: 24,138,321 (GRCm38)	V212L	probably damaging	Het
Krt10	C	A	11: 99,387,261 (GRCm38)	R322L	probably damaging	Het
Lrrn4	A	G	2: 132,879,861 (GRCm38)	L12P	unknown	Het
Mast2	C	G	4: 116,310,910 (GRCm38)	E881Q	possibly damaging	Het
Nod1	G	T	6: 54,944,917 (GRCm38)	R139S	probably benign	Het
Notch3	C	T	17: 32,150,702 (GRCm38)	V772M	possibly damaging	Het
Nrxn1	G	A	17: 90,208,367 (GRCm38)	T19M	probably damaging	Het
Nudcd1	T	C	15: 44,420,811 (GRCm38)	M60V	probably benign	Het
Olfr1151	T	A	2: 87,857,661 (GRCm38)	L162*	probably null	Het
Olfr1220	T	C	2: 89,097,324 (GRCm38)	N201S	possibly damaging	Het
Olfr1453	G	C	19: 13,028,047 (GRCm38)	A94G	probably benign	Het
Olfr1510	T	A	14: 52,410,361 (GRCm38)	R170S	possibly damaging	Het
Olfr25	T	A	9: 38,330,344 (GRCm38)	S252R	possibly damaging	Het
Pcdhb6	A	G	18: 37,335,892 (GRCm38)	E622G	probably damaging	Het
Pitrm1	G	A	13: 6,578,481 (GRCm38)	A937T	possibly damaging	Het
Plxnb1	G	A	9: 109,106,613 (GRCm38)		probably null	Het
Ripk3	T	G	14: 55,788,241 (GRCm38)	N54T	probably damaging	Het
Rpn2	C	A	2: 157,290,652 (GRCm38)	A108E	possibly damaging	Het
Scaf11	A	G	15: 96,414,864 (GRCm38)	V1432A	probably damaging	Het
Sec14l5	C	T	16: 5,165,654 (GRCm38)		probably null	Het
Serpina3n	A	G	12: 104,411,277 (GRCm38)	E263G	possibly damaging	Het
Six4	A	G	12: 73,112,883 (GRCm38)	F101S	probably damaging	Het
Slc12a1	A	G	2: 125,154,151 (GRCm38)	T75A	probably benign	Het
Slc26a9	T	C	1: 131,763,944 (GRCm38)	S642P	probably benign	Het
Smu1	T	C	4: 40,752,008 (GRCm38)	T183A	probably benign	Het
Sptb	T	G	12: 76,610,815 (GRCm38)	K1311Q	possibly damaging	Het
Tal2	A	G	4: 53,785,843 (GRCm38)	N8S	probably damaging	Het
Tenm4	A	G	7: 96,895,160 (GRCm38)	T2128A	probably damaging	Het
Tmem67	A	T	4: 12,073,952 (GRCm38)	M288K	probably benign	Het
Ubr1	A	C	2: 120,963,448 (GRCm38)	I85S	probably benign	Het
Vmn2r90	G	T	17: 17,733,376 (GRCm38)	V601L	probably benign	Het
Zfhx4	C	T	3: 5,403,358 (GRCm38)	P2859S	probably benign	Het

Other mutations in Olfr1231

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Olfr1231	APN	2	89,303,472 (GRCm38)	missense	possibly damaging	0.90
IGL02189:Olfr1231	APN	2	89,303,297 (GRCm38)	missense	probably damaging	1.00
IGL02354:Olfr1231	APN	2	89,303,182 (GRCm38)	missense	probably benign	0.03
IGL02361:Olfr1231	APN	2	89,303,182 (GRCm38)	missense	probably benign	0.03
PIT4305001:Olfr1231	UTSW	2	89,303,383 (GRCm38)	missense	probably benign	0.05
R0973:Olfr1231	UTSW	2	89,303,184 (GRCm38)	missense	probably damaging	1.00
R0973:Olfr1231	UTSW	2	89,303,184 (GRCm38)	missense	probably damaging	1.00
R0974:Olfr1231	UTSW	2	89,303,184 (GRCm38)	missense	probably damaging	1.00
R2006:Olfr1231	UTSW	2	89,302,816 (GRCm38)	missense	possibly damaging	0.60
R3150:Olfr1231	UTSW	2	89,303,218 (GRCm38)	missense	possibly damaging	0.82
R3177:Olfr1231	UTSW	2	89,303,218 (GRCm38)	missense	possibly damaging	0.82
R3277:Olfr1231	UTSW	2	89,303,218 (GRCm38)	missense	possibly damaging	0.82
R4208:Olfr1231	UTSW	2	89,302,926 (GRCm38)	missense	probably damaging	1.00
R4412:Olfr1231	UTSW	2	89,303,340 (GRCm38)	missense	probably benign	0.00
R4693:Olfr1231	UTSW	2	89,303,277 (GRCm38)	missense	probably benign	0.07
R4697:Olfr1231	UTSW	2	89,302,903 (GRCm38)	missense	probably damaging	1.00
R4697:Olfr1231	UTSW	2	89,302,902 (GRCm38)	missense	possibly damaging	0.90
R5411:Olfr1231	UTSW	2	89,303,576 (GRCm38)	missense	probably benign
R5992:Olfr1231	UTSW	2	89,303,359 (GRCm38)	missense	possibly damaging	0.50
R6894:Olfr1231	UTSW	2	89,303,493 (GRCm38)	missense	probably damaging	1.00
R8017:Olfr1231	UTSW	2	89,303,251 (GRCm38)	missense	possibly damaging	0.94
R8019:Olfr1231	UTSW	2	89,303,251 (GRCm38)	missense	possibly damaging	0.94
R9274:Olfr1231	UTSW	2	89,303,169 (GRCm38)	missense	probably damaging	0.98
R9457:Olfr1231	UTSW	2	89,302,731 (GRCm38)	missense	probably damaging	1.00
X0064:Olfr1231	UTSW	2	89,302,902 (GRCm38)	missense	possibly damaging	0.72
X0067:Olfr1231	UTSW	2	89,303,154 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGGCCTTGACGCATAATGG -3'
(R):5'- CAGTCCTCCCAGTAATGTGAC -3'

Sequencing Primer
(F):5'- GACGCATAATGGTCATATAATGCAG -3'
(R):5'- AATGTGACTGAATTTGTTCTCCTG -3'

Posted On

2015-01-23