Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01726:Or52e5'

105261

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52e5

Ensembl Gene

ENSMUSG00000073913

Gene Name

olfactory receptor family 52 subfamily E member 5

Synonyms

MOR32-5, GA_x6K02T2PBJ9-7698491-7699432, Olfr678

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL01726

Quality Score

Status

Chromosome

Chromosomal Location

104718676-104719617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104718836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 54 (E54G)

Ref Sequence

ENSEMBL: ENSMUSP00000150213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098160] [ENSMUST00000213622]

AlphaFold

Q8VG26

Predicted Effect

probably damaging
Transcript: ENSMUST00000098160
AA Change: E54G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095763
Gene: ENSMUSG00000073913
AA Change: E54G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	2.2e-115	PFAM
Pfam:7TM_GPCR_Srsx	37	212	2.8e-6	PFAM
Pfam:7tm_1	43	293	8e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213622
AA Change: E54G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,638,147 (GRCm39)		probably null	Het
Arpc2	A	G	1: 74,287,338 (GRCm39)	T53A	probably benign	Het
Ccdc170	C	A	10: 4,499,713 (GRCm39)	L545M	probably benign	Het
Ccm2l	T	C	2: 152,922,821 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,810,391 (GRCm39)	N2166D	probably benign	Het
Clca4b	T	G	3: 144,634,103 (GRCm39)	D104A	probably damaging	Het
Clcnka	C	T	4: 141,120,051 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,551,518 (GRCm39)	N201K	probably damaging	Het
Cyp1a2	G	A	9: 57,589,485 (GRCm39)	L110F	possibly damaging	Het
Dhtkd1	T	C	2: 5,947,467 (GRCm39)	T6A	unknown	Het
Enthd1	A	C	15: 80,336,652 (GRCm39)	L594R	probably damaging	Het
Espnl	A	G	1: 91,272,626 (GRCm39)	D618G	probably benign	Het
Gm6096	A	T	7: 33,950,904 (GRCm39)	I148F	probably damaging	Het
Hsf5	C	T	11: 87,526,951 (GRCm39)	T541I	probably benign	Het
Il18r1	A	G	1: 40,537,563 (GRCm39)	S443G	possibly damaging	Het
Il1a	T	C	2: 129,146,640 (GRCm39)	D151G	possibly damaging	Het
Ints1	A	G	5: 139,754,166 (GRCm39)		probably benign	Het
Kcnh1	A	C	1: 192,188,164 (GRCm39)	D875A	possibly damaging	Het
Naip6	T	A	13: 100,439,760 (GRCm39)	I336F	probably benign	Het
Napepld	A	G	5: 21,880,657 (GRCm39)	F246S	possibly damaging	Het
Nova1	C	T	12: 46,760,280 (GRCm39)		probably null	Het
Nsa2	C	A	13: 97,268,525 (GRCm39)	A181S	probably damaging	Het
Ntn5	C	A	7: 45,343,671 (GRCm39)	R337S	probably damaging	Het
Nynrin	T	C	14: 56,101,611 (GRCm39)	S427P	probably benign	Het
Pcgf1	T	A	6: 83,055,867 (GRCm39)		probably null	Het
Pfn4	T	A	12: 4,824,446 (GRCm39)	L58I	probably benign	Het
Plekha1	C	A	7: 130,499,059 (GRCm39)	P116Q	probably damaging	Het
Pou5f2	T	C	13: 78,173,300 (GRCm39)	S81P	possibly damaging	Het
Prag1	A	G	8: 36,570,146 (GRCm39)	D243G	probably damaging	Het
Rbm26	G	A	14: 105,389,943 (GRCm39)	P227L	probably damaging	Het
Rgl1	A	T	1: 152,394,904 (GRCm39)	N756K	probably damaging	Het
Rhou	A	T	8: 124,380,880 (GRCm39)	T66S	possibly damaging	Het
Rspo3	A	T	10: 29,380,704 (GRCm39)	D103E	probably benign	Het
Rundc3b	T	C	5: 8,570,902 (GRCm39)	K306E	probably benign	Het
Slc25a32	A	G	15: 38,965,466 (GRCm39)		probably benign	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Tars3	A	G	7: 65,332,566 (GRCm39)	T556A	possibly damaging	Het
Tmem266	A	G	9: 55,342,486 (GRCm39)	K324E	probably benign	Het
Tnrc6c	T	C	11: 117,640,161 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,817,971 (GRCm39)	S452T	probably damaging	Het
Tspear	T	A	10: 77,717,121 (GRCm39)		probably benign	Het
Ttll5	T	G	12: 85,965,708 (GRCm39)	I571S	probably benign	Het
Ttn	T	C	2: 76,797,433 (GRCm39)	T544A	probably benign	Het
Ubn1	T	C	16: 4,891,334 (GRCm39)		probably null	Het
Ubr2	C	A	17: 47,303,907 (GRCm39)		probably benign	Het
Usp21	A	T	1: 171,111,574 (GRCm39)	W360R	probably damaging	Het
Vmn2r62	A	T	7: 42,414,526 (GRCm39)	L639H	probably damaging	Het
Zc3h7b	T	A	15: 81,656,000 (GRCm39)	I116N	possibly damaging	Het
Zfp618	C	T	4: 63,050,872 (GRCm39)	T551I	probably damaging	Het
Zfp804b	T	C	5: 7,230,707 (GRCm39)		probably benign	Het
Zkscan8	T	C	13: 21,704,973 (GRCm39)	H322R	probably benign	Het
Zwint	T	G	10: 72,493,019 (GRCm39)		probably null	Het

Other mutations in Or52e5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Or52e5	APN	7	104,718,808 (GRCm39)	missense	probably benign	0.44
IGL01469:Or52e5	APN	7	104,719,595 (GRCm39)	missense	probably benign	0.05
IGL03263:Or52e5	APN	7	104,719,209 (GRCm39)	missense	probably damaging	1.00
R1423:Or52e5	UTSW	7	104,719,226 (GRCm39)	missense	probably damaging	1.00
R2181:Or52e5	UTSW	7	104,719,418 (GRCm39)	missense	possibly damaging	0.88
R4594:Or52e5	UTSW	7	104,718,797 (GRCm39)	missense	probably benign	0.00
R5376:Or52e5	UTSW	7	104,719,564 (GRCm39)	missense	probably damaging	1.00
R5782:Or52e5	UTSW	7	104,718,956 (GRCm39)	missense	probably damaging	1.00
R5847:Or52e5	UTSW	7	104,719,064 (GRCm39)	missense	probably benign	0.01
R6418:Or52e5	UTSW	7	104,719,514 (GRCm39)	missense	probably damaging	1.00
R6664:Or52e5	UTSW	7	104,719,395 (GRCm39)	missense	possibly damaging	0.64
R7593:Or52e5	UTSW	7	104,718,704 (GRCm39)	missense	probably benign	0.27
R8813:Or52e5	UTSW	7	104,719,518 (GRCm39)	nonsense	probably null
R8841:Or52e5	UTSW	7	104,719,479 (GRCm39)	missense	possibly damaging	0.69
R8933:Or52e5	UTSW	7	104,718,599 (GRCm39)	start gained	probably benign
R9485:Or52e5	UTSW	7	104,718,703 (GRCm39)	missense	possibly damaging	0.60
R9696:Or52e5	UTSW	7	104,719,283 (GRCm39)	missense	probably damaging	0.98
RF015:Or52e5	UTSW	7	104,719,255 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21