Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02230:Olfr714'

285642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr714

Ensembl Gene

ENSMUSG00000049674

Gene Name

olfactory receptor 714

Synonyms

GA_x6K02T2PBJ9-9453401-9454354, P4, MOR263-2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

107070981-107077802 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107074493 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 222 (I222V)

Ref Sequence

ENSEMBL: ENSMUSP00000151106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054629] [ENSMUST00000214429]

Predicted Effect

probably damaging
Transcript: ENSMUST00000054629
AA Change: I222V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095742
Gene: ENSMUSG00000049674
AA Change: I222V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	8.5e-56	PFAM
Pfam:7tm_1	42	291	3.5e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214123

Predicted Effect

probably damaging
Transcript: ENSMUST00000214429
AA Change: I222V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; 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]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal olfactory sensory neuron projections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,171,830	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996	I374F	probably damaging	Het
Ecel1	T	C	1: 87,152,194	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494		probably null	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880	K245N	probably damaging	Het
Mdga2	G	A	12: 66,655,423	R335*	probably null	Het
Naa16	A	T	14: 79,377,361		probably benign	Het
Ncbp1	C	A	4: 46,165,272	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042	M82K	probably damaging	Het
Pipox	A	G	11: 77,881,206	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971		probably null	Het
Stmn1	A	G	4: 134,472,913	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Olfr714

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02562:Olfr714	APN	7	107074562	missense	probably benign	0.03
IGL02597:Olfr714	APN	7	107074439	missense	possibly damaging	0.89
IGL02598:Olfr714	APN	7	107074716	missense	possibly damaging	0.64
IGL02981:Olfr714	APN	7	107074551	missense	probably damaging	1.00
BB004:Olfr714	UTSW	7	107074289	missense	probably benign	0.00
BB014:Olfr714	UTSW	7	107074289	missense	probably benign	0.00
R0064:Olfr714	UTSW	7	107074280	missense	probably benign	0.02
R0064:Olfr714	UTSW	7	107074280	missense	probably benign	0.02
R0518:Olfr714	UTSW	7	107074758	missense	possibly damaging	0.81
R0521:Olfr714	UTSW	7	107074758	missense	possibly damaging	0.81
R1661:Olfr714	UTSW	7	107074274	missense	probably damaging	1.00
R1665:Olfr714	UTSW	7	107074274	missense	probably damaging	1.00
R2069:Olfr714	UTSW	7	107074619	nonsense	probably null
R2202:Olfr714	UTSW	7	107074316	missense	probably damaging	1.00
R3884:Olfr714	UTSW	7	107073903	missense	possibly damaging	0.72
R4362:Olfr714	UTSW	7	107074592	missense	probably damaging	0.99
R4618:Olfr714	UTSW	7	107074554	missense	probably damaging	1.00
R5375:Olfr714	UTSW	7	107073873	missense	probably benign	0.05
R5654:Olfr714	UTSW	7	107074187	missense	probably damaging	1.00
R6228:Olfr714	UTSW	7	107074136	missense	probably damaging	1.00
R7196:Olfr714	UTSW	7	107074728	missense	probably benign	0.01
R7202:Olfr714	UTSW	7	107074241	missense	probably benign	0.01
R7232:Olfr714	UTSW	7	107073855	missense	probably benign	0.03
R7927:Olfr714	UTSW	7	107074289	missense	probably benign	0.00
Z1088:Olfr714	UTSW	7	107074405	missense	possibly damaging	0.84

Posted On

2015-04-16