Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Or2a5'

99684

Institutional Source

Beutler Lab

Gene Symbol

Or2a5

Ensembl Gene

ENSMUSG00000043119

Gene Name

olfactory receptor family 2 subfamily A member 5

Synonyms

Olfr448, MOR261-13, GA_x6K02T2P3E9-4663051-4662119

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42873387-42874319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42874285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 300 (V300A)

Ref Sequence

ENSEMBL: ENSMUSP00000148884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058668] [ENSMUST00000213952] [ENSMUST00000214529]

AlphaFold

Q8VES9

Predicted Effect

probably benign
Transcript: ENSMUST00000058668
AA Change: V300A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059195
Gene: ENSMUSG00000043119
AA Change: V300A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.8e-61	PFAM
Pfam:7tm_1	40	289	5.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213952
AA Change: V300A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000214529
AA Change: V300A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cd151	A	C	7: 141,050,569 (GRCm39)	T241P	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Htra4	T	C	8: 25,520,635 (GRCm39)	D342G	possibly damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kazn	A	T	4: 141,886,349 (GRCm39)		probably benign	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,290,692 (GRCm39)	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	Het

Other mutations in Or2a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Or2a5	APN	6	42,873,568 (GRCm39)	missense	probably damaging	1.00
IGL02888:Or2a5	APN	6	42,874,263 (GRCm39)	missense	probably damaging	1.00
R0830:Or2a5	UTSW	6	42,873,532 (GRCm39)	missense	probably benign	0.06
R1846:Or2a5	UTSW	6	42,874,254 (GRCm39)	missense	probably damaging	0.99
R1913:Or2a5	UTSW	6	42,873,687 (GRCm39)	missense	probably damaging	0.97
R2178:Or2a5	UTSW	6	42,873,732 (GRCm39)	missense	probably benign
R3115:Or2a5	UTSW	6	42,873,784 (GRCm39)	missense	probably benign	0.01
R3116:Or2a5	UTSW	6	42,873,784 (GRCm39)	missense	probably benign	0.01
R4717:Or2a5	UTSW	6	42,874,158 (GRCm39)	missense	probably damaging	1.00
R5358:Or2a5	UTSW	6	42,873,454 (GRCm39)	missense	probably benign	0.11
R6249:Or2a5	UTSW	6	42,874,238 (GRCm39)	missense	probably damaging	0.98
R6860:Or2a5	UTSW	6	42,873,750 (GRCm39)	missense	probably benign	0.35
R7122:Or2a5	UTSW	6	42,874,024 (GRCm39)	missense	probably damaging	0.99
R8924:Or2a5	UTSW	6	42,873,964 (GRCm39)	missense	probably damaging	1.00
R8988:Or2a5	UTSW	6	42,874,201 (GRCm39)	missense
R9507:Or2a5	UTSW	6	42,873,835 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2014-01-15