Mutagenetix > Incidental Mutations

Incidental Mutation 'R7025:Olfr1243'

545890

Institutional Source

Beutler Lab

Gene Symbol

Olfr1243

Ensembl Gene

ENSMUSG00000075084

Gene Name

olfactory receptor 1243

Synonyms

GA_x6K02T2Q125-50972538-50971621, MOR231-4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89525889-89531487 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89527604 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 269 (I269F)

Ref Sequence

ENSEMBL: ENSMUSP00000149464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099775] [ENSMUST00000144885]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099775
AA Change: I269F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: I269F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.5e-45	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.2e-5	PFAM
Pfam:7tm_1	39	285	2.1e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144885
AA Change: I269F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 103,104,538	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550	R593*	probably null	Het
Bicral	T	C	17: 46,801,668	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,610,606	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,670,980	D137V	probably damaging	Het
Dbr1	A	G	9: 99,575,983	T19A	probably damaging	Het
Dnah3	C	T	7: 120,030,010	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871	I207T	possibly damaging	Het
Fam198b	T	C	3: 79,886,548	Y108H	probably damaging	Het
Fam219a	T	C	4: 41,521,925	S41G	probably benign	Het
Gm15448	T	A	7: 3,821,262	K629*	probably null	Het
Ifi203	T	C	1: 173,928,385		probably benign	Het
Inpp4a	T	C	1: 37,369,423	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197	Q182L	probably benign	Het
Krt90	T	C	15: 101,557,175	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,483,028	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787	Y813S	unknown	Het
Myh7	C	A	14: 54,974,644	E1548*	probably null	Het
Myh8	A	G	11: 67,297,539	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508		probably benign	Het
Neb	T	C	2: 52,296,273	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848	M65I	possibly damaging	Het
Nop56	C	T	2: 130,277,881	R81*	probably null	Het
Npnt	C	T	3: 132,908,396	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262	K148E	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,675	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760	D959E	probably benign	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187		probably benign	Het
Prpf40b	C	T	15: 99,306,400	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403	V378I	possibly damaging	Het
Trpm1	A	T	7: 64,226,714		probably null	Het
Ubqln3	A	G	7: 104,141,275	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083	I393F	possibly damaging	Het

Other mutations in Olfr1243

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Olfr1243	APN	2	89528207	missense	probably damaging	1.00
IGL01940:Olfr1243	APN	2	89527810	missense	probably damaging	0.99
IGL02553:Olfr1243	APN	2	89527931	missense	probably benign
R0105:Olfr1243	UTSW	2	89528363	missense	probably benign	0.00
R0105:Olfr1243	UTSW	2	89528363	missense	probably benign	0.00
R0607:Olfr1243	UTSW	2	89528107	missense	possibly damaging	0.88
R0764:Olfr1243	UTSW	2	89527996	missense	probably benign	0.05
R1779:Olfr1243	UTSW	2	89527645	missense	probably benign	0.15
R2221:Olfr1243	UTSW	2	89527937	missense	probably benign	0.05
R3853:Olfr1243	UTSW	2	89527573	missense	possibly damaging	0.94
R3886:Olfr1243	UTSW	2	89527732	missense	possibly damaging	0.81
R3887:Olfr1243	UTSW	2	89527732	missense	possibly damaging	0.81
R3888:Olfr1243	UTSW	2	89527732	missense	possibly damaging	0.81
R4431:Olfr1243	UTSW	2	89527643	missense	probably damaging	1.00
R4479:Olfr1243	UTSW	2	89528170	missense	possibly damaging	0.89
R6807:Olfr1243	UTSW	2	89527588	missense	probably damaging	1.00
R7094:Olfr1243	UTSW	2	89527558	missense	probably damaging	1.00
R7144:Olfr1243	UTSW	2	89527557	missense	probably damaging	1.00
R7972:Olfr1243	UTSW	2	89527604	missense	probably benign	0.02
R8013:Olfr1243	UTSW	2	89527936	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GAGCACAGCATCCCTTGTTAG -3'
(R):5'- TCACTGTCATTGCCAATGGTG -3'

Sequencing Primer
(F):5'- GCACAGCATCCCTTGTTAGAATTTAC -3'
(R):5'- AATCTGTGTGGGAATTTTCACC -3'

Posted On

2019-05-13