Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Olfr243'

359925

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr243

Ensembl Gene

ENSMUSG00000094822

Gene Name

olfactory receptor 243

Synonyms

GA_x6K02T2L9TJ-1933-2295, MOR22-4, GA_x6K02T2PBJ9-6440320-6440766, Olfr627

Accession Numbers

Essential gene?

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

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

103714671-103721166 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103716883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 96 (F96L)

Ref Sequence

ENSEMBL: ENSMUSP00000150329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098194] [ENSMUST00000215723]

AlphaFold

E9PV96

Predicted Effect

probably benign
Transcript: ENSMUST00000098194
AA Change: F96L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095796
Gene: ENSMUSG00000094822
AA Change: F96L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	1.6e-105	PFAM
Pfam:7tm_1	43	295	4.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215723
AA Change: F96L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748 (GRCm38)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642 (GRCm38)		probably benign	Het
Acvr1	A	G	2: 58,462,952 (GRCm38)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742 (GRCm38)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616 (GRCm38)		probably null	Het
Btnl9	A	T	11: 49,174,867 (GRCm38)		probably benign	Het
Dbx1	T	A	7: 49,636,577 (GRCm38)	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073 (GRCm38)		probably benign	Het
Dnmt1	T	C	9: 20,927,111 (GRCm38)	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978 (GRCm38)	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778 (GRCm38)	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818 (GRCm38)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613 (GRCm38)	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871 (GRCm38)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm38)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673 (GRCm38)		probably benign	Het
Gpr45	C	T	1: 43,032,493 (GRCm38)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517 (GRCm38)	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553 (GRCm38)		probably benign	Het
Kdelc2	A	G	9: 53,392,105 (GRCm38)	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894 (GRCm38)		probably null	Het
Lgr4	T	C	2: 110,008,210 (GRCm38)		probably benign	Het
Lrrc9	C	T	12: 72,478,768 (GRCm38)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432 (GRCm38)	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406 (GRCm38)		probably null	Het
Nectin1	A	G	9: 43,803,552 (GRCm38)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285 (GRCm38)	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512 (GRCm38)	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562 (GRCm38)	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277 (GRCm38)	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929 (GRCm38)	V228I	probably benign	Het
Pcsk1	G	T	13: 75,112,620 (GRCm38)	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299 (GRCm38)	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950 (GRCm38)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190 (GRCm38)	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680 (GRCm38)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411 (GRCm38)	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593 (GRCm38)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373 (GRCm38)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490 (GRCm38)		probably benign	Het
Slc22a30	C	T	19: 8,400,895 (GRCm38)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112 (GRCm38)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419 (GRCm38)	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083 (GRCm38)	V255F	probably benign	Het
St5	T	C	7: 109,556,364 (GRCm38)	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223 (GRCm38)	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549 (GRCm38)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959 (GRCm38)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389 (GRCm38)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701 (GRCm38)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302 (GRCm38)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277 (GRCm38)	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090 (GRCm38)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136 (GRCm38)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438 (GRCm38)	E273G	possibly damaging	Het

Other mutations in Olfr243

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Olfr243	APN	7	103,717,121 (GRCm38)	missense	probably benign	0.06
IGL01550:Olfr243	APN	7	103,716,997 (GRCm38)	missense	probably damaging	0.98
IGL02698:Olfr243	APN	7	103,717,278 (GRCm38)	missense	probably damaging	1.00
IGL02949:Olfr243	APN	7	103,717,220 (GRCm38)	missense	probably benign	0.00
IGL03326:Olfr243	APN	7	103,716,862 (GRCm38)	missense	probably benign	0.12
R1605:Olfr243	UTSW	7	103,716,651 (GRCm38)	missense	probably damaging	0.99
R1676:Olfr243	UTSW	7	103,717,112 (GRCm38)	missense	probably benign
R1973:Olfr243	UTSW	7	103,716,597 (GRCm38)	start codon destroyed	probably null	0.93
R2897:Olfr243	UTSW	7	103,717,542 (GRCm38)	missense	probably benign
R4667:Olfr243	UTSW	7	103,716,638 (GRCm38)	missense	probably benign	0.00
R4883:Olfr243	UTSW	7	103,716,707 (GRCm38)	missense	probably benign
R4955:Olfr243	UTSW	7	103,716,705 (GRCm38)	missense	probably benign	0.42
R5322:Olfr243	UTSW	7	103,717,112 (GRCm38)	missense	probably benign
R5384:Olfr243	UTSW	7	103,717,355 (GRCm38)	missense	probably benign	0.12
R5386:Olfr243	UTSW	7	103,717,355 (GRCm38)	missense	probably benign	0.12
R5523:Olfr243	UTSW	7	103,717,480 (GRCm38)	nonsense	probably null
R7307:Olfr243	UTSW	7	103,716,966 (GRCm38)	missense	probably damaging	0.96
R7743:Olfr243	UTSW	7	103,717,353 (GRCm38)	missense	possibly damaging	0.49
R8006:Olfr243	UTSW	7	103,717,325 (GRCm38)	missense	probably damaging	0.98
R9106:Olfr243	UTSW	7	103,717,530 (GRCm38)	missense	probably benign
R9581:Olfr243	UTSW	7	103,716,581 (GRCm38)	start gained	probably benign
R9681:Olfr243	UTSW	7	103,717,268 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-12-18