Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02189:Olfr1231'

283794

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

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

89299786-89307074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89303297 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 98 (C98W)

Ref Sequence

ENSEMBL: ENSMUSP00000150310 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099786
AA Change: C98W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: C98W

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 damaging
Transcript: ENSMUST00000216144
AA Change: C98W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,230	K57E	probably damaging	Het
9930111J21Rik1	A	T	11: 48,947,421	Y780N	probably benign	Het
Aadacl2	T	C	3: 60,025,188	S375P	probably damaging	Het
Abi1	A	C	2: 23,040,064	M1R	probably null	Het
Acss1	T	C	2: 150,629,868	D322G	probably damaging	Het
Adam22	G	A	5: 8,330,029	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,500,461	H515R	probably benign	Het
BC003331	G	T	1: 150,372,033	N356K	possibly damaging	Het
C3	T	C	17: 57,220,113	K779E	probably benign	Het
Cfhr2	A	G	1: 139,821,759	Y162H	probably damaging	Het
Chchd5	T	C	2: 129,133,268		probably benign	Het
Csmd1	T	A	8: 16,271,606	I493F	probably damaging	Het
Daam1	A	T	12: 71,946,285	R349S	unknown	Het
Dnah11	T	C	12: 118,082,579	E1708G	probably benign	Het
Epg5	A	G	18: 78,012,870	D1753G	probably damaging	Het
Flt4	T	G	11: 49,626,003	C206G	probably damaging	Het
Fscn1	G	T	5: 142,960,620	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,728,544	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121	S70T	possibly damaging	Het
H2-K1	A	G	17: 33,999,492	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,742,138	I290L	probably benign	Het
Iws1	A	G	18: 32,093,125	R689G	probably damaging	Het
Klk1b22	A	G	7: 44,116,206		probably null	Het
Klra4	T	A	6: 130,044,142	D230V	possibly damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Lilra5	A	T	7: 4,237,969	M21L	probably benign	Het
Lrrc20	T	A	10: 61,527,108	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,209,317	M426L	probably damaging	Het
Mylk2	C	T	2: 152,915,154	P283L	probably damaging	Het
Mynn	T	A	3: 30,613,544		probably benign	Het
Parl	T	A	16: 20,297,703	I116F	probably damaging	Het
Pdlim3	T	C	8: 45,885,593	V5A	probably damaging	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Ptprf	T	A	4: 118,213,642		probably benign	Het
Ptprn	A	G	1: 75,258,495	S170P	possibly damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Rps27a	C	A	11: 29,546,772	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,754,838		probably benign	Het
Scube3	G	T	17: 28,162,996	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,345,339		probably null	Het
Sh3tc2	A	G	18: 61,990,622	E818G	probably benign	Het
Slc16a3	G	A	11: 120,956,771	V262I	probably benign	Het
Sptbn1	T	A	11: 30,117,871	D1781V	probably damaging	Het
Ssr1	C	T	13: 37,987,516		probably null	Het
Tep1	A	G	14: 50,826,826	L2442S	probably benign	Het
Tonsl	A	T	15: 76,623,178	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,639,157	H468L	probably benign	Het
Ttc27	C	T	17: 74,729,899	T189M	probably damaging	Het
Ttn	T	C	2: 76,890,156		probably benign	Het
Ttn	T	G	2: 76,759,895	I21157L	probably damaging	Het
Vav3	T	A	3: 109,525,960		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Olfr1231

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Olfr1231	APN	2	89303472	missense	possibly damaging	0.90
IGL02354:Olfr1231	APN	2	89303182	missense	probably benign	0.03
IGL02361:Olfr1231	APN	2	89303182	missense	probably benign	0.03
PIT4305001:Olfr1231	UTSW	2	89303383	missense	probably benign	0.05
R0973:Olfr1231	UTSW	2	89303184	missense	probably damaging	1.00
R0973:Olfr1231	UTSW	2	89303184	missense	probably damaging	1.00
R0974:Olfr1231	UTSW	2	89303184	missense	probably damaging	1.00
R2006:Olfr1231	UTSW	2	89302816	missense	possibly damaging	0.60
R3150:Olfr1231	UTSW	2	89303218	missense	possibly damaging	0.82
R3177:Olfr1231	UTSW	2	89303218	missense	possibly damaging	0.82
R3277:Olfr1231	UTSW	2	89303218	missense	possibly damaging	0.82
R3409:Olfr1231	UTSW	2	89303373	missense	probably benign
R4208:Olfr1231	UTSW	2	89302926	missense	probably damaging	1.00
R4412:Olfr1231	UTSW	2	89303340	missense	probably benign	0.00
R4693:Olfr1231	UTSW	2	89303277	missense	probably benign	0.07
R4697:Olfr1231	UTSW	2	89302903	missense	probably damaging	1.00
R4697:Olfr1231	UTSW	2	89302902	missense	possibly damaging	0.90
R5411:Olfr1231	UTSW	2	89303576	missense	probably benign
R5992:Olfr1231	UTSW	2	89303359	missense	possibly damaging	0.50
R6894:Olfr1231	UTSW	2	89303493	missense	probably damaging	1.00
R8019:Olfr1231	UTSW	2	89303251	missense	possibly damaging	0.94
X0064:Olfr1231	UTSW	2	89302902	missense	possibly damaging	0.72
X0067:Olfr1231	UTSW	2	89303154	missense	possibly damaging	0.91

Posted On

2015-04-16