Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02361:Olfr1231'

290496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr1231

Ensembl Gene

ENSMUSG00000075093

Gene Name

olfactory receptor 1231

Synonyms

GA_x6K02T2Q125-50748233-50747292, MOR235-2

Accession Numbers

Essential gene?

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

Stock #

IGL02361

Quality Score

Status

Chromosome

Chromosomal Location

89299786-89307074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89303182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 137 (M137L)

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: M137L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: M137L

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: M137L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp1	A	C	6: 55,345,513 (GRCm38)	L164F	possibly damaging	Het
Bfsp1	T	C	2: 143,831,987 (GRCm38)	E261G	probably damaging	Het
Brinp2	A	G	1: 158,247,178 (GRCm38)	C458R	probably damaging	Het
Cacng3	T	G	7: 122,671,946 (GRCm38)	M58R	possibly damaging	Het
Cfap43	A	T	19: 47,897,413 (GRCm38)	C254*	probably null	Het
Cnga1	T	C	5: 72,616,718 (GRCm38)		probably null	Het
Dis3	A	T	14: 99,079,712 (GRCm38)	Y765*	probably null	Het
Dpep1	T	A	8: 123,200,218 (GRCm38)	S260R	probably benign	Het
Elmod1	A	G	9: 53,931,558 (GRCm38)	L106P	probably damaging	Het
Fut10	A	G	8: 31,201,370 (GRCm38)	Y81C	probably damaging	Het
Fzd10	T	A	5: 128,601,868 (GRCm38)	D217E	possibly damaging	Het
Gap43	T	C	16: 42,340,508 (GRCm38)		probably benign	Het
Gigyf1	T	C	5: 137,519,727 (GRCm38)		probably benign	Het
Gm1840	T	C	8: 5,640,896 (GRCm38)		noncoding transcript	Het
Gpc5	C	T	14: 115,133,287 (GRCm38)	R175*	probably null	Het
Kcna1	C	A	6: 126,642,906 (GRCm38)	Q150H	probably damaging	Het
Lama5	A	T	2: 180,193,884 (GRCm38)	C1225*	probably null	Het
Lrrc25	A	T	8: 70,617,827 (GRCm38)	D86V	probably benign	Het
Madd	A	T	2: 91,162,198 (GRCm38)	V1043E	probably benign	Het
Mov10	A	T	3: 104,804,121 (GRCm38)		probably benign	Het
Mzb1	T	A	18: 35,649,197 (GRCm38)	H46L	possibly damaging	Het
Nek10	A	T	14: 14,843,856 (GRCm38)	Q193L	probably damaging	Het
Nos3	A	T	5: 24,367,623 (GRCm38)	I187F	probably damaging	Het
Olfr473	T	A	7: 107,934,277 (GRCm38)	Y252*	probably null	Het
Olfr822	A	G	10: 130,075,274 (GRCm38)	Y288C	probably damaging	Het
Pgap1	T	C	1: 54,512,816 (GRCm38)	T486A	probably benign	Het
Prdm9	C	T	17: 15,562,847 (GRCm38)	V58M	probably damaging	Het
Prkd2	A	G	7: 16,847,658 (GRCm38)	Y146C	probably damaging	Het
Psmd9	G	T	5: 123,248,316 (GRCm38)	R175I	probably damaging	Het
Pxdn	A	G	12: 29,999,189 (GRCm38)	D618G	probably damaging	Het
Rgs6	A	T	12: 82,618,619 (GRCm38)		probably benign	Het
Rrm2	G	T	12: 24,711,439 (GRCm38)		probably benign	Het
Shank3	T	C	15: 89,504,333 (GRCm38)	V376A	probably damaging	Het
Slc5a10	A	G	11: 61,719,840 (GRCm38)		probably null	Het
Slfn3	A	T	11: 83,213,242 (GRCm38)	Q313L	possibly damaging	Het
Sptbn1	A	T	11: 30,110,783 (GRCm38)	F2062L	probably damaging	Het
Tbc1d10a	T	C	11: 4,215,047 (GRCm38)	V500A	probably benign	Het
Tcea1	T	C	1: 4,896,347 (GRCm38)		probably benign	Het
Thsd7a	T	C	6: 12,348,193 (GRCm38)		probably benign	Het
Tm9sf4	C	T	2: 153,187,650 (GRCm38)	T173M	probably benign	Het
Tmtc2	T	C	10: 105,271,526 (GRCm38)	T709A	probably benign	Het
Zfp385b	T	C	2: 77,450,303 (GRCm38)	E97G	probably damaging	Het
Zim1	A	T	7: 6,682,874 (GRCm38)		probably null	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
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
R3409:Olfr1231	UTSW	2	89,303,373 (GRCm38)	missense	probably benign
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

Posted On

2015-04-16