Mutagenetix > Incidental Mutation

Incidental Mutation 'R1477:Or5ae2'

164126

Institutional Source

Beutler Lab

Gene Symbol

Or5ae2

Ensembl Gene

ENSMUSG00000070460

Gene Name

olfactory receptor family 5 subfamily AE member 2

Synonyms

GA_x6K02T2NHDJ-11231385-11230438, Olfr291, MOR254-2

MMRRC Submission

039530-MU

Accession Numbers

Essential gene?

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

Stock #

R1477 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84502779-84506526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84506225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 216 (I216N)

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: I216N

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 damaging
Transcript: ENSMUST00000211582
AA Change: I218N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217039
AA Change: I216N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	A	C	19: 55,279,904 (GRCm39)	D481A	probably benign	Het
Adam2	A	C	14: 66,315,149 (GRCm39)	L8R	possibly damaging	Het
Ajm1	G	C	2: 25,469,765 (GRCm39)	H49D	possibly damaging	Het
Arfgef1	A	T	1: 10,259,509 (GRCm39)	C619S	probably damaging	Het
Atm	A	G	9: 53,375,573 (GRCm39)	I2082T	probably benign	Het
Cgrrf1	A	G	14: 47,090,895 (GRCm39)	I210M	probably benign	Het
Clec2e	A	T	6: 129,072,163 (GRCm39)	V72E	probably benign	Het
Cmtr1	T	C	17: 29,916,131 (GRCm39)	V587A	possibly damaging	Het
Col1a2	T	C	6: 4,539,673 (GRCm39)	F1314L	unknown	Het
Ctbp2	T	C	7: 132,600,670 (GRCm39)	E618G	probably damaging	Het
Dnaaf6rt	G	A	1: 31,262,104 (GRCm39)	V29M	probably benign	Het
Dock8	A	T	19: 25,072,914 (GRCm39)	Y398F	possibly damaging	Het
Ezh1	A	T	11: 101,083,810 (GRCm39)	D733E	probably damaging	Het
Fbxl6	A	G	15: 76,421,934 (GRCm39)	S202P	probably benign	Het
Fcgbpl1	C	A	7: 27,856,518 (GRCm39)	Q2102K	probably benign	Het
Grid2ip	G	A	5: 143,361,340 (GRCm39)	A191T	probably damaging	Het
Helz2	T	C	2: 180,874,597 (GRCm39)	S1966G	probably benign	Het
Ipmk	A	G	10: 71,217,607 (GRCm39)	K385E	probably damaging	Het
Itga11	G	A	9: 62,662,493 (GRCm39)	V489I	probably benign	Het
Klhl6	T	C	16: 19,784,727 (GRCm39)	K137R	probably benign	Het
Meis1	G	A	11: 18,831,665 (GRCm39)	Q458*	probably null	Het
Mst1r	T	C	9: 107,785,523 (GRCm39)	S394P	probably benign	Het
Mus81	G	T	19: 5,536,362 (GRCm39)	H155Q	probably benign	Het
Neb	G	A	2: 52,154,134 (GRCm39)	L2326F	probably damaging	Het
Nf1	C	T	11: 79,286,685 (GRCm39)	Q162*	probably null	Het
Nin	T	C	12: 70,090,958 (GRCm39)	E819G	possibly damaging	Het
Nox4	T	C	7: 86,945,074 (GRCm39)	V79A	probably benign	Het
Or11g2	A	T	14: 50,856,170 (GRCm39)	I164F	probably damaging	Het
Or13a28	T	A	7: 140,218,355 (GRCm39)	I247N	possibly damaging	Het
Or6d12	A	T	6: 116,493,626 (GRCm39)	Y296F	probably damaging	Het
Peg3	T	A	7: 6,719,141 (GRCm39)	D69V	probably damaging	Het
Pnp2	A	G	14: 51,196,992 (GRCm39)	E26G	probably benign	Het
Pnpt1	T	A	11: 29,087,102 (GRCm39)	C154S	probably benign	Het
Ppp1r26	C	T	2: 28,342,800 (GRCm39)	T810I	probably benign	Het
Ppp2r5b	A	G	19: 6,280,257 (GRCm39)	S349P	probably benign	Het
Prdm4	C	T	10: 85,740,129 (GRCm39)	V424I	probably benign	Het
Rraga	A	G	4: 86,494,996 (GRCm39)	I281V	probably benign	Het
Sall1	T	C	8: 89,759,510 (GRCm39)	E198G	probably damaging	Het
Serpina9	T	C	12: 103,963,362 (GRCm39)	D382G	possibly damaging	Het
Stt3b	A	G	9: 115,095,260 (GRCm39)	V257A	probably damaging	Het
Taf2	A	T	15: 54,925,568 (GRCm39)	Y225N	possibly damaging	Het
Tlr3	A	G	8: 45,851,202 (GRCm39)	L41P	probably damaging	Het
Trappc12	A	T	12: 28,787,751 (GRCm39)	V444E	probably benign	Het
Trim34a	T	A	7: 103,897,287 (GRCm39)	V117D	possibly damaging	Het
Ttbk1	A	C	17: 46,787,725 (GRCm39)	M259R	probably benign	Het
Ttll12	A	G	15: 83,464,303 (GRCm39)	V509A	probably damaging	Het
Ush2a	G	A	1: 188,581,273 (GRCm39)	V3718M	probably benign	Het
Vps35	T	A	8: 86,014,429 (GRCm39)	E73D	probably damaging	Het
Zfp790	C	T	7: 29,522,525 (GRCm39)		probably benign	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
IGL02928:Or5ae2	APN	7	84,506,273 (GRCm39)	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTCCCCAAGATGCTCAAGAATCTC -3'
(R):5'- TCATGCTGTCTGTGAACATATCCGAAG -3'

Sequencing Primer
(F):5'- TCTTGACTGAGGATCACAGC -3'
(R):5'- CATAGAGATGAGTCTGTCTCTTCCAG -3'

Posted On

2014-03-28