Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Olfr116'

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301654

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr116

Ensembl Gene

ENSMUSG00000061336

Gene Name

olfactory receptor 116

Synonyms

MOR218-2, GA_x6K02T2PSCP-2084102-2083137

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

37620577-37627199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37623987 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 216 (I216N)

Ref Sequence

ENSEMBL: ENSMUSP00000072115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072265] [ENSMUST00000216128] [ENSMUST00000223366]

Predicted Effect

probably benign
Transcript: ENSMUST00000072265
AA Change: I216N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000072115
Gene: ENSMUSG00000061336
AA Change: I216N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.9e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.1e-6	PFAM
Pfam:7tm_1	41	290	6.1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216128
AA Change: I216N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000223366

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably damaging	Het

Other mutations in Olfr116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02434:Olfr116	APN	17	37624576	missense	possibly damaging	0.86
IGL02663:Olfr116	APN	17	37624044	missense	probably benign	0.37
R0049:Olfr116	UTSW	17	37624133	missense	probably benign	0.02
R1260:Olfr116	UTSW	17	37623703	missense	probably benign	0.00
R1531:Olfr116	UTSW	17	37624352	nonsense	probably null
R3236:Olfr116	UTSW	17	37624236	missense	possibly damaging	0.65
R4083:Olfr116	UTSW	17	37624425	missense	probably damaging	1.00
R4308:Olfr116	UTSW	17	37623736	missense	possibly damaging	0.46
R4887:Olfr116	UTSW	17	37623891	missense	probably damaging	0.99
R5167:Olfr116	UTSW	17	37623751	nonsense	probably null
R5323:Olfr116	UTSW	17	37624155	missense	probably benign	0.22
R5496:Olfr116	UTSW	17	37624578	missense	probably benign	0.01
R5530:Olfr116	UTSW	17	37623807	missense	possibly damaging	0.72
R5643:Olfr116	UTSW	17	37624432	missense	probably benign	0.00
R5644:Olfr116	UTSW	17	37624432	missense	probably benign	0.00
R5798:Olfr116	UTSW	17	37623990	missense	probably benign	0.01
R6020:Olfr116	UTSW	17	37623967	missense	possibly damaging	0.94
R7058:Olfr116	UTSW	17	37623706	missense	probably benign	0.00
R7453:Olfr116	UTSW	17	37624385	missense	probably benign	0.00
R7474:Olfr116	UTSW	17	37624386	missense	probably benign	0.30
R7565:Olfr116	UTSW	17	37624501	missense	probably damaging	0.99
R7646:Olfr116	UTSW	17	37624404	missense	probably damaging	1.00
Z1088:Olfr116	UTSW	17	37624429	missense	probably damaging	0.98

Posted On

2015-04-16