Mutagenetix > Incidental Mutation

Incidental Mutation 'R0503:Or51a5'

47254

Institutional Source

Beutler Lab

Gene Symbol

Or51a5

Ensembl Gene

ENSMUSG00000066268

Gene Name

olfactory receptor family 51 subfamily A member 5

Synonyms

MOR8-7, MOR8-2, GA_x6K02T2PBJ9-5836380-5835439, Olfr586

MMRRC Submission

038698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R0503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102771036-102771989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102771643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 112 (M112K)

Ref Sequence

ENSEMBL: ENSMUSP00000149226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084811] [ENSMUST00000211075] [ENSMUST00000213281] [ENSMUST00000215304]

AlphaFold

Q8VH13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084811
AA Change: M116K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081872
Gene: ENSMUSG00000066268
AA Change: M116K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	6.1e-111	PFAM
Pfam:7TM_GPCR_Srsx	41	312	1.6e-11	PFAM
Pfam:7tm_1	47	297	1.7e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211075
AA Change: M112K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213281
AA Change: M112K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215304
AA Change: M112K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccdc65	G	T	15: 98,607,041 (GRCm39)	D83Y	probably damaging	Het
Cd200r2	T	A	16: 44,698,325 (GRCm39)	M1K	probably null	Het
Clca4c-ps	A	T	3: 144,585,583 (GRCm39)		noncoding transcript	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Comp	A	T	8: 70,828,384 (GRCm39)	N130I	possibly damaging	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,325,122 (GRCm39)	D495V	unknown	Het
Erich2	A	T	2: 70,340,043 (GRCm39)	R169S	probably damaging	Het
Erich2	C	A	2: 70,371,119 (GRCm39)	S426R	unknown	Het
Gab1	C	T	8: 81,526,771 (GRCm39)	R109H	probably damaging	Het
Ggcx	GTCTAT	GTCTATCTAT	6: 72,406,140 (GRCm39)		probably null	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hmcn1	C	T	1: 150,735,003 (GRCm39)	V170M	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Katnb1	A	G	8: 95,821,802 (GRCm39)	T212A	probably damaging	Het
Kirrel1	A	G	3: 87,005,109 (GRCm39)	S80P	probably benign	Het
Lrrc75b	T	C	10: 75,389,488 (GRCm39)	T81A	possibly damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mmp10	A	T	9: 7,507,340 (GRCm39)	I387F	probably damaging	Het
Mphosph10	A	T	7: 64,039,641 (GRCm39)	C110S	probably benign	Het
Mpig6b	A	G	17: 35,283,424 (GRCm39)		probably benign	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mybpc2	A	G	7: 44,161,994 (GRCm39)		probably benign	Het
Nbea	C	T	3: 55,550,257 (GRCm39)	G2724S	possibly damaging	Het
Nck2	A	G	1: 43,572,728 (GRCm39)	M1V	probably null	Het
Nefl	T	A	14: 68,321,432 (GRCm39)	D7E	probably benign	Het
Nktr	T	A	9: 121,579,806 (GRCm39)		probably benign	Het
Nlrp12	C	T	7: 3,298,007 (GRCm39)	E55K	probably damaging	Het
Nsun7	T	A	5: 66,440,924 (GRCm39)		probably benign	Het
Or10d4c	A	G	9: 39,558,772 (GRCm39)	Y250C	probably damaging	Het
Or4c109	C	T	2: 88,818,322 (GRCm39)	V75I	probably benign	Het
Or4k5	T	A	14: 50,385,935 (GRCm39)	Y132F	probably damaging	Het
Or6c2b	T	C	10: 128,947,671 (GRCm39)	T208A	probably damaging	Het
Or6f2	T	C	7: 139,756,354 (GRCm39)	V113A	possibly damaging	Het
Pcdh15	A	G	10: 74,046,217 (GRCm39)	T165A	probably damaging	Het
Pikfyve	A	T	1: 65,259,058 (GRCm39)	H410L	probably damaging	Het
Polr3c	A	T	3: 96,620,952 (GRCm39)		probably null	Het
Ptdss2	T	A	7: 140,731,710 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,237,138 (GRCm38)	M1386V	possibly damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rfx4	T	A	10: 84,730,196 (GRCm39)	I495K	possibly damaging	Het
Serpina12	C	A	12: 103,997,418 (GRCm39)	A368S	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Tspan11	T	C	6: 127,916,075 (GRCm39)	W124R	probably benign	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Tyro3	T	C	2: 119,633,711 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,045,127 (GRCm39)	M644V	probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn2r85	T	C	10: 130,258,609 (GRCm39)	Y482C	probably damaging	Het
Zfp940	A	G	7: 29,545,445 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het
Zkscan1	T	A	5: 138,091,588 (GRCm39)	I107N	probably damaging	Het

Other mutations in Or51a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02708:Or51a5	APN	7	102,771,027 (GRCm39)	utr 3 prime	probably benign
R0502:Or51a5	UTSW	7	102,771,643 (GRCm39)	missense	possibly damaging	0.94
R0508:Or51a5	UTSW	7	102,771,193 (GRCm39)	missense	possibly damaging	0.93
R0882:Or51a5	UTSW	7	102,771,782 (GRCm39)	missense	probably benign	0.09
R0962:Or51a5	UTSW	7	102,771,217 (GRCm39)	missense	possibly damaging	0.50
R1112:Or51a5	UTSW	7	102,771,611 (GRCm39)	missense	probably damaging	1.00
R2226:Or51a5	UTSW	7	102,771,115 (GRCm39)	missense	probably benign	0.06
R4285:Or51a5	UTSW	7	102,771,867 (GRCm39)	nonsense	probably null
R5817:Or51a5	UTSW	7	102,771,115 (GRCm39)	missense	possibly damaging	0.94
R6342:Or51a5	UTSW	7	102,771,563 (GRCm39)	missense	probably damaging	0.99
R6380:Or51a5	UTSW	7	102,771,136 (GRCm39)	missense	probably benign	0.02
R6565:Or51a5	UTSW	7	102,771,445 (GRCm39)	missense	probably damaging	0.99
R7861:Or51a5	UTSW	7	102,771,899 (GRCm39)	missense	probably benign	0.03
R7921:Or51a5	UTSW	7	102,771,635 (GRCm39)	missense	probably damaging	0.99
RF020:Or51a5	UTSW	7	102,771,098 (GRCm39)	missense	probably benign	0.05
Z1177:Or51a5	UTSW	7	102,771,598 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGTGAGAGCCACAAATAAGCC -3'
(R):5'- AATCGGAGCCTTCTCTGCATGAAC -3'

Sequencing Primer
(F):5'- GCAGGCCAGTTTCATGACATC -3'
(R):5'- GCATGAACCCATGTACTATTTCC -3'

Posted On

2013-06-12