Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02732:Or52e3'

305493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52e3

Ensembl Gene

ENSMUSG00000073954

Gene Name

olfactory receptor family 52 subfamily E member 3

Synonyms

Olfr594, MOR32-10, GA_x6K02T2PBJ9-5935234-5936169

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02732

Quality Score

Status

Chromosome

Chromosomal Location

102868927-102869862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102869447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 174 (N174T)

Ref Sequence

ENSEMBL: ENSMUSP00000095806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098205] [ENSMUST00000214051]

AlphaFold

Q7TRR4

Predicted Effect

probably benign
Transcript: ENSMUST00000098205
AA Change: N174T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095806
Gene: ENSMUSG00000073954
AA Change: N174T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	2.6e-130	PFAM
Pfam:7TM_GPCR_Srsx	37	284	4.6e-6	PFAM
Pfam:7tm_1	43	293	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214051
AA Change: N174T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	C	A	13: 107,551,123 (GRCm39)		noncoding transcript	Het
Ash1l	T	A	3: 88,873,535 (GRCm39)	V106E	probably damaging	Het
Baz2a	A	G	10: 127,961,044 (GRCm39)	T1618A	possibly damaging	Het
Brca1	A	G	11: 101,383,045 (GRCm39)	S1732P	probably benign	Het
Cdh1	T	A	8: 107,392,955 (GRCm39)	I813N	probably damaging	Het
Cdk5rap2	G	A	4: 70,184,902 (GRCm39)	R1183*	probably null	Het
Cep170	C	T	1: 176,564,440 (GRCm39)	E1479K	probably damaging	Het
Cep68	A	T	11: 20,186,109 (GRCm39)		probably benign	Het
Cog7	C	T	7: 121,522,590 (GRCm39)	V750I	probably benign	Het
Cplane1	A	G	15: 8,209,375 (GRCm39)	T271A	probably benign	Het
Cyb5d1	A	C	11: 69,284,635 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,591,243 (GRCm39)	K120E	probably benign	Het
Dmtf1	T	C	5: 9,186,098 (GRCm39)	I75V	possibly damaging	Het
Fnip2	T	C	3: 79,373,004 (GRCm39)	T995A	probably damaging	Het
Hecw2	G	A	1: 53,965,847 (GRCm39)		probably benign	Het
Il17rd	T	A	14: 26,809,376 (GRCm39)	F111I	probably damaging	Het
Itgb8	A	C	12: 119,127,088 (GRCm39)	M722R	probably benign	Het
Maip1	A	G	1: 57,449,114 (GRCm39)	D165G	probably damaging	Het
Mcm6	A	T	1: 128,287,227 (GRCm39)	C26S	probably benign	Het
Mdp1	T	C	14: 55,896,678 (GRCm39)	I128V	possibly damaging	Het
Myof	A	T	19: 37,966,164 (GRCm39)	F385L	possibly damaging	Het
Nebl	C	T	2: 17,457,295 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,466,061 (GRCm39)	E227G	probably damaging	Het
Or4b13	A	G	2: 90,082,652 (GRCm39)	S227P	probably damaging	Het
Or51m1	T	G	7: 103,578,336 (GRCm39)	M102R	probably damaging	Het
Pamr1	A	T	2: 102,472,486 (GRCm39)	H595L	probably benign	Het
Pate5	C	T	9: 35,750,345 (GRCm39)	G109D	probably damaging	Het
Pdgfc	G	A	3: 80,944,864 (GRCm39)		probably benign	Het
Pierce1	T	C	2: 28,355,192 (GRCm39)	N91S	probably damaging	Het
Ptpn22	A	T	3: 103,793,349 (GRCm39)	E500V	probably damaging	Het
Ptprg	G	T	14: 12,225,617 (GRCm38)		probably null	Het
R3hdm2	T	C	10: 127,319,929 (GRCm39)	F513L	probably benign	Het
Ramac	T	C	7: 81,417,473 (GRCm39)		probably null	Het
Rhobtb3	C	A	13: 76,059,056 (GRCm39)	L247F	probably damaging	Het
Scfd1	T	C	12: 51,469,756 (GRCm39)	S434P	probably benign	Het
Serpinb3d	T	A	1: 107,010,526 (GRCm39)		probably null	Het
Sin3b	T	C	8: 73,460,081 (GRCm39)	F223L	possibly damaging	Het
Slc9c1	T	C	16: 45,370,548 (GRCm39)	V263A	possibly damaging	Het
Sntb1	A	G	15: 55,655,596 (GRCm39)	S207P	possibly damaging	Het
Sqor	A	T	2: 122,641,682 (GRCm39)	T1S	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssh2	A	G	11: 77,328,602 (GRCm39)		probably null	Het
Tasor2	A	G	13: 3,623,626 (GRCm39)	V2108A	probably benign	Het
Tmod2	A	G	9: 75,493,454 (GRCm39)	V167A	possibly damaging	Het
Trak2	G	A	1: 58,949,222 (GRCm39)	T526M	probably benign	Het
Trdn	G	A	10: 33,344,195 (GRCm39)		probably null	Het
Trim5	T	A	7: 103,927,672 (GRCm39)	E156V	probably benign	Het
Twf1	A	G	15: 94,478,890 (GRCm39)	S273P	probably damaging	Het
Xylt1	T	C	7: 117,191,164 (GRCm39)	V320A	possibly damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Or52e3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01595:Or52e3	APN	7	102,869,558 (GRCm39)	missense	probably damaging	1.00
IGL03268:Or52e3	APN	7	102,869,848 (GRCm39)	missense	probably benign	0.09
R0008:Or52e3	UTSW	7	102,869,584 (GRCm39)	missense	probably benign	0.00
R0008:Or52e3	UTSW	7	102,869,558 (GRCm39)	missense	probably damaging	1.00
R1056:Or52e3	UTSW	7	102,869,625 (GRCm39)	missense	probably benign	0.01
R1300:Or52e3	UTSW	7	102,869,324 (GRCm39)	missense	probably benign	0.10
R1961:Or52e3	UTSW	7	102,869,204 (GRCm39)	missense	probably benign
R2029:Or52e3	UTSW	7	102,868,967 (GRCm39)	missense	probably damaging	0.97
R2380:Or52e3	UTSW	7	102,869,815 (GRCm39)	missense	possibly damaging	0.93
R4616:Or52e3	UTSW	7	102,869,629 (GRCm39)	nonsense	probably null
R7361:Or52e3	UTSW	7	102,869,830 (GRCm39)	missense	possibly damaging	0.96
R7366:Or52e3	UTSW	7	102,869,740 (GRCm39)	missense	probably benign	0.02
R7539:Or52e3	UTSW	7	102,869,273 (GRCm39)	missense	possibly damaging	0.93
R7593:Or52e3	UTSW	7	102,869,471 (GRCm39)	missense	probably damaging	1.00
R8393:Or52e3	UTSW	7	102,869,399 (GRCm39)	missense	probably benign	0.07
R8809:Or52e3	UTSW	7	102,869,446 (GRCm39)	missense	probably benign
R8984:Or52e3	UTSW	7	102,869,393 (GRCm39)	missense	possibly damaging	0.76
R9203:Or52e3	UTSW	7	102,869,862 (GRCm39)	makesense	probably null

Posted On

2015-04-16