Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Or5ae2'

557802

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

045331-MU

Accession Numbers

Essential gene?

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

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84502779-84506526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84506251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 227 (I227V)

Ref Sequence

ENSEMBL: ENSMUSP00000148266 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211582
AA Change: I227V

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217039
AA Change: I225V

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	G	A	13: 12,293,847 (GRCm39)	H558Y	probably damaging	Het
Ajm1	T	A	2: 25,468,579 (GRCm39)	H444L	possibly damaging	Het
Akap9	G	C	5: 4,110,364 (GRCm39)	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,175,011 (GRCm39)	R710C	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Carmil3	A	G	14: 55,738,739 (GRCm39)	E844G	probably damaging	Het
Cdk17	T	G	10: 93,068,343 (GRCm39)	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656 (GRCm39)	M253L	probably benign	Het
Chd3	T	G	11: 69,253,132 (GRCm39)	K228Q	probably damaging	Het
Cit	T	A	5: 116,123,846 (GRCm39)	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Czib	C	A	4: 107,752,087 (GRCm39)	D155E	not run	Het
Degs1	A	G	1: 182,106,690 (GRCm39)	S226P	probably damaging	Het
Espl1	T	C	15: 102,221,638 (GRCm39)	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218 (GRCm39)	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944 (GRCm38)		probably null	Het
Gnptab	T	A	10: 88,269,932 (GRCm39)	Y878*	probably null	Het
Gpr89	A	T	3: 96,778,714 (GRCm39)	M453K	probably benign	Het
Igsf5	A	T	16: 96,174,048 (GRCm39)	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,297,995 (GRCm39)	D202V	possibly damaging	Het
Itga3	C	T	11: 94,943,305 (GRCm39)	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,222,184 (GRCm39)		probably null	Het
Klk4	T	C	7: 43,531,122 (GRCm39)	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,567,169 (GRCm39)	L206P	probably damaging	Het
Manba	A	T	3: 135,248,149 (GRCm39)	N346I	probably damaging	Het
Map4k4	T	C	1: 40,013,132 (GRCm39)	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Masp2	A	G	4: 148,694,572 (GRCm39)		probably null	Het
Mast1	T	C	8: 85,661,933 (GRCm39)	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,241,235 (GRCm39)	S254T	possibly damaging	Het
Myo16	A	T	8: 10,619,585 (GRCm39)	T1379S	unknown	Het
Myo5a	A	G	9: 75,087,435 (GRCm39)	E1097G	probably benign	Het
Nat1	T	C	8: 67,944,329 (GRCm39)	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,580,931 (GRCm39)	D493G	probably damaging	Het
Or10ak9	C	T	4: 118,726,922 (GRCm39)	P315S	probably benign	Het
Or1j21	T	C	2: 36,683,709 (GRCm39)	S154P	probably benign	Het
Or5b108	A	T	19: 13,168,270 (GRCm39)	M80L	probably benign	Het
Or5d20-ps1	T	C	2: 87,932,176 (GRCm39)	K52E	probably damaging	Het
Or8g51	A	G	9: 38,609,515 (GRCm39)	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,429,349 (GRCm39)	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,169,222 (GRCm39)	D88G	probably benign	Het
Pld5	A	T	1: 176,041,187 (GRCm39)	M1K	probably null	Het
Prmt6	A	G	3: 110,157,680 (GRCm39)	M203T	probably benign	Het
Prr14l	A	T	5: 32,986,510 (GRCm39)	V995D	probably damaging	Het
Psg18	T	C	7: 18,084,862 (GRCm39)	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,552,815 (GRCm39)	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711 (GRCm39)	S154P	probably benign	Het
Slco1c1	T	A	6: 141,487,855 (GRCm39)	Y192*	probably null	Het
Spag16	A	G	1: 70,764,025 (GRCm39)	H615R	possibly damaging	Het
Spata31h1	G	A	10: 82,122,063 (GRCm39)	T3649I	probably damaging	Het
Tas2r114	G	A	6: 131,666,728 (GRCm39)	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,264,544 (GRCm39)	S103P	probably benign	Het
Usp10	T	C	8: 120,668,847 (GRCm39)	S383P	probably damaging	Het
Vmn2r113	A	G	17: 23,167,137 (GRCm39)	R505G	probably benign	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Zfp318	T	A	17: 46,708,232 (GRCm39)		probably null	Het
Zfp318	T	C	17: 46,716,865 (GRCm39)	V999A	probably damaging	Het
Zfp324	A	T	7: 12,702,810 (GRCm39)	H58L	probably damaging	Het
Zfp707	A	G	15: 75,846,967 (GRCm39)	E339G	possibly 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
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
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
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'- GCAGCTGGGTTTCTGAACTC -3'
(R):5'- TGGGAGTAATGACCCCATACAAC -3'

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

Posted On

2019-06-26