Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02751:Olfr109'

306292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr109

Ensembl Gene

ENSMUSG00000029184

Gene Name

olfactory receptor 109

Synonyms

GA_x6K02T2PSCP-1914078-1915022, MOR250-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02751

Quality Score

Status

Chromosome

Chromosomal Location

37458916-37471590 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37466415 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 70 (C70R)

Ref Sequence

ENSEMBL: ENSMUSP00000150044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031086] [ENSMUST00000214668] [ENSMUST00000214938] [ENSMUST00000217602]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031086
AA Change: C70R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: C70R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	309	3.4e-54	PFAM
Pfam:7tm_1	39	291	6.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214668
AA Change: C70R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214938
AA Change: C70R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217602
AA Change: C70R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

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
Adra1a	A	T	14: 66,727,532	I324F	possibly damaging	Het
Ago2	G	A	15: 73,130,897	A162V	possibly damaging	Het
Aox4	G	T	1: 58,259,052	R1059I	probably damaging	Het
AU021092	C	A	16: 5,212,619	V304L	probably damaging	Het
Bcs1l	T	G	1: 74,589,616	F20V	probably damaging	Het
Braf	T	C	6: 39,660,867		probably benign	Het
Cacna1a	T	C	8: 84,569,952	C1200R	probably damaging	Het
Ccdc116	T	A	16: 17,141,972	R284S	probably benign	Het
Cntnap5a	T	G	1: 116,184,457		probably null	Het
Col12a1	A	T	9: 79,613,859		probably benign	Het
Cpa4	T	A	6: 30,581,740	Y229N	probably damaging	Het
Fbp1	A	C	13: 62,875,143		probably null	Het
Gimap3	A	T	6: 48,765,238	W253R	probably benign	Het
Gm1330	G	A	2: 148,990,473		probably benign	Het
Gm4841	A	G	18: 60,271,021		probably benign	Het
Grip1	A	G	10: 119,978,577	T338A	probably benign	Het
Hmg20b	A	T	10: 81,346,551		probably benign	Het
Hnrnpdl	A	G	5: 100,037,974	F151L	probably damaging	Het
Klhl30	T	A	1: 91,354,099	F141I	probably damaging	Het
Lamc3	T	A	2: 31,920,704	F862Y	probably benign	Het
Lap3	T	C	5: 45,504,796	C313R	probably damaging	Het
Lrp2	T	C	2: 69,533,462	T344A	possibly damaging	Het
Mga	A	G	2: 119,947,770	E2023G	possibly damaging	Het
Mical2	A	T	7: 112,332,036	K735N	probably benign	Het
Muc15	A	G	2: 110,731,773	T185A	probably benign	Het
Osbp2	T	C	11: 3,863,434	K145R	probably benign	Het
Pde1c	T	C	6: 56,181,688	T52A	probably damaging	Het
Pidd1	A	G	7: 141,439,163	S802P	possibly damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prep	T	A	10: 45,115,186	I316N	probably damaging	Het
Prl3d2	G	A	13: 27,126,031		probably null	Het
Pygo1	A	T	9: 72,945,037	I169F	probably benign	Het
Rnf10	G	T	5: 115,242,666	A716E	probably benign	Het
Rtn4	G	A	11: 29,706,409		probably null	Het
Ryr1	A	T	7: 29,078,774	V2099E	probably damaging	Het
Slc48a1	G	A	15: 97,790,080		probably benign	Het
Spag17	T	A	3: 100,010,794	Y364*	probably null	Het
Syt3	A	T	7: 44,386,062	D31V	possibly damaging	Het
Tango2	G	T	16: 18,307,993	P143H	probably benign	Het
Tas2r104	A	G	6: 131,685,144	S201P	probably damaging	Het
Tas2r107	G	A	6: 131,659,484	L201F	probably damaging	Het
Vmn1r81	A	T	7: 12,260,447	L78Q	probably damaging	Het
Vmn2r18	T	A	5: 151,584,607	T351S	probably benign	Het

Other mutations in Olfr109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Olfr109	APN	17	37466758	missense	probably damaging	1.00
IGL02039:Olfr109	APN	17	37466449	missense	possibly damaging	0.49
IGL02391:Olfr109	APN	17	37466586	missense	probably damaging	1.00
IGL02730:Olfr109	APN	17	37466859	missense	probably damaging	1.00
IGL02891:Olfr109	APN	17	37466944	missense	probably damaging	1.00
IGL03023:Olfr109	APN	17	37466994	missense	probably benign
IGL03343:Olfr109	APN	17	37466409	missense	probably damaging	1.00
R0026:Olfr109	UTSW	17	37466803	missense	probably damaging	0.99
R0579:Olfr109	UTSW	17	37466347	missense	probably benign	0.01
R1751:Olfr109	UTSW	17	37466901	missense	probably benign	0.00
R1848:Olfr109	UTSW	17	37467047	missense	probably damaging	0.99
R2392:Olfr109	UTSW	17	37466419	missense	probably damaging	1.00
R4249:Olfr109	UTSW	17	37466824	missense	probably damaging	0.98
R4464:Olfr109	UTSW	17	37466851	missense	probably damaging	1.00
R4857:Olfr109	UTSW	17	37466823	missense	possibly damaging	0.80
R4947:Olfr109	UTSW	17	37466743	missense	probably damaging	1.00
R5107:Olfr109	UTSW	17	37466253	missense	probably damaging	0.97
R5526:Olfr109	UTSW	17	37467112	missense	unknown
R6147:Olfr109	UTSW	17	37466539	missense	probably benign	0.00
R6416:Olfr109	UTSW	17	37467080	nonsense	probably null
R7450:Olfr109	UTSW	17	37466616	missense	probably benign	0.00
R7487:Olfr109	UTSW	17	37466566	missense	probably damaging	0.96
R7822:Olfr109	UTSW	17	37467103	missense	probably benign	0.00
R8041:Olfr109	UTSW	17	37466649	missense	probably benign
R8051:Olfr109	UTSW	17	37466322	missense	probably damaging	1.00
X0063:Olfr109	UTSW	17	37466524	missense	probably damaging	1.00
X0065:Olfr109	UTSW	17	37466318	missense	probably damaging	1.00
Z1176:Olfr109	UTSW	17	37466661	missense	possibly damaging	0.93

Posted On

2015-04-16