Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02928:Or5ae2'

363951

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5ae2

Ensembl Gene

ENSMUSG00000070460

Gene Name

olfactory receptor family 5 subfamily AE member 2

Synonyms

GA_x6K02T2NHDJ-11231385-11230438, Olfr291, MOR254-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL02928

Quality Score

Status

Chromosome

Chromosomal Location

84502779-84506526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84506273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 232 (E232G)

Ref Sequence

ENSEMBL: ENSMUSP00000150934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000211582] [ENSMUST00000217039]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000077303
Gene: ENSMUSG00000070460
AA Change: E232G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	3e-54	PFAM
Pfam:7TM_GPCR_Srsx	37	270	1.5e-10	PFAM
Pfam:7tm_1	43	293	1.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211582
AA Change: E234G

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000217039
AA Change: E232G

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,980,327 (GRCm39)	Y92C	probably damaging	Het
Aadacl4fm1	A	T	4: 144,255,802 (GRCm39)	L407F	possibly damaging	Het
Abcc3	G	T	11: 94,252,132 (GRCm39)	T817K	possibly damaging	Het
Arhgap10	G	A	8: 77,977,539 (GRCm39)		probably benign	Het
Arhgef16	G	T	4: 154,367,350 (GRCm39)	Q352K	probably benign	Het
Cep104	A	G	4: 154,065,716 (GRCm39)	I68V	probably benign	Het
Col5a2	G	A	1: 45,424,180 (GRCm39)	A1082V	probably benign	Het
Col6a1	A	T	10: 76,545,500 (GRCm39)	Y991N	possibly damaging	Het
Ehmt2	T	C	17: 35,129,798 (GRCm39)	I1021T	probably damaging	Het
Eif2ak4	G	A	2: 118,303,168 (GRCm39)		probably null	Het
Ern1	A	G	11: 106,296,705 (GRCm39)		probably benign	Het
Fgf18	A	T	11: 33,074,674 (GRCm39)	I99N	possibly damaging	Het
Glp1r	A	G	17: 31,137,911 (GRCm39)	D114G	probably benign	Het
Gm10553	A	G	1: 85,077,933 (GRCm39)	K17E	possibly damaging	Het
Gm5422	T	A	10: 31,126,250 (GRCm39)		noncoding transcript	Het
Gnb1	A	C	4: 155,637,863 (GRCm39)	T196P	probably benign	Het
Ighv6-5	T	A	12: 114,380,412 (GRCm39)	D35V	probably benign	Het
Il18r1	G	A	1: 40,517,711 (GRCm39)		probably null	Het
Ipo11	A	T	13: 107,025,863 (GRCm39)		probably benign	Het
Itih1	T	A	14: 30,659,715 (GRCm39)	Q307L	probably damaging	Het
Mmp1b	T	A	9: 7,368,242 (GRCm39)	*464L	probably null	Het
Mrps7	C	T	11: 115,495,910 (GRCm39)	Q113*	probably null	Het
Npat	A	C	9: 53,478,138 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,854,605 (GRCm39)	I852V	probably damaging	Het
Or10ak14	A	G	4: 118,611,697 (GRCm39)	F15L	probably damaging	Het
P2rx6	T	A	16: 17,382,901 (GRCm39)		probably benign	Het
Parp6	T	A	9: 59,548,346 (GRCm39)	N466K	possibly damaging	Het
Prss12	A	T	3: 123,280,805 (GRCm39)	N497Y	possibly damaging	Het
Psg22	T	C	7: 18,453,458 (GRCm39)	V51A	probably damaging	Het
Ptgir	T	C	7: 16,642,923 (GRCm39)	S175P	possibly damaging	Het
Rd3l	T	C	12: 111,946,012 (GRCm39)	S156G	probably benign	Het
Reck	C	T	4: 43,912,078 (GRCm39)	H196Y	possibly damaging	Het
Rft1	T	A	14: 30,385,072 (GRCm39)	V165D	possibly damaging	Het
Rin2	A	G	2: 145,701,926 (GRCm39)		probably benign	Het
Rufy4	A	G	1: 74,168,241 (GRCm39)		probably benign	Het
Scfd2	G	A	5: 74,691,832 (GRCm39)	T150M	probably damaging	Het
Sgca	A	G	11: 94,863,129 (GRCm39)	W75R	probably damaging	Het
Sirt7	A	T	11: 120,511,042 (GRCm39)	D318E	probably benign	Het
Smr2l	A	T	5: 88,424,976 (GRCm39)	I14L	probably benign	Het
Snta1	C	T	2: 154,222,959 (GRCm39)	A255T	probably benign	Het
Stxbp2	A	G	8: 3,691,736 (GRCm39)	D485G	probably damaging	Het
Sycp1	T	A	3: 102,726,134 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,917,997 (GRCm39)	V1922A	possibly damaging	Het
Ttc7b	A	T	12: 100,369,674 (GRCm39)	V365D	probably damaging	Het
Upk3b	A	G	5: 136,067,995 (GRCm39)	E62G	probably benign	Het
Wdr36	T	C	18: 32,980,372 (GRCm39)		probably null	Het
Yars2	T	C	16: 16,121,410 (GRCm39)	F188S	probably damaging	Het

Other mutations in Or5ae2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Or5ae2	APN	7	84,505,619 (GRCm39)	missense	probably damaging	1.00
IGL02643:Or5ae2	APN	7	84,506,239 (GRCm39)	missense	probably damaging	1.00
IGL03124:Or5ae2	APN	7	84,505,931 (GRCm39)	missense	probably damaging	0.99
R0129:Or5ae2	UTSW	7	84,506,196 (GRCm39)	missense	probably benign
R0605:Or5ae2	UTSW	7	84,506,345 (GRCm39)	missense	probably damaging	1.00
R1085:Or5ae2	UTSW	7	84,505,987 (GRCm39)	missense	probably benign	0.05
R1477:Or5ae2	UTSW	7	84,506,225 (GRCm39)	missense	probably damaging	1.00
R1834:Or5ae2	UTSW	7	84,505,690 (GRCm39)	missense	probably damaging	0.99
R1839:Or5ae2	UTSW	7	84,505,756 (GRCm39)	missense	probably damaging	1.00
R2036:Or5ae2	UTSW	7	84,505,566 (GRCm39)	start gained	probably benign
R4214:Or5ae2	UTSW	7	84,506,497 (GRCm39)	missense	probably benign
R4386:Or5ae2	UTSW	7	84,505,756 (GRCm39)	missense	probably damaging	1.00
R4679:Or5ae2	UTSW	7	84,506,112 (GRCm39)	nonsense	probably null
R4789:Or5ae2	UTSW	7	84,506,509 (GRCm39)	missense	probably benign	0.09
R4841:Or5ae2	UTSW	7	84,506,328 (GRCm39)	missense	probably damaging	1.00
R5011:Or5ae2	UTSW	7	84,505,646 (GRCm39)	missense	probably damaging	1.00
R5013:Or5ae2	UTSW	7	84,505,646 (GRCm39)	missense	probably damaging	1.00
R6127:Or5ae2	UTSW	7	84,506,410 (GRCm39)	missense	probably damaging	1.00
R7164:Or5ae2	UTSW	7	84,506,251 (GRCm39)	missense	possibly damaging	0.73
R7328:Or5ae2	UTSW	7	84,506,507 (GRCm39)	missense	probably benign	0.01
R8347:Or5ae2	UTSW	7	84,505,963 (GRCm39)	missense	probably damaging	0.99
R8434:Or5ae2	UTSW	7	84,506,497 (GRCm39)	missense	probably benign
R8882:Or5ae2	UTSW	7	84,505,681 (GRCm39)	missense	probably damaging	1.00
R9242:Or5ae2	UTSW	7	84,506,086 (GRCm39)	nonsense	probably null
R9640:Or5ae2	UTSW	7	84,506,114 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18