Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Or51a5'

515268

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

044529-MU

Accession Numbers

Essential gene?

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

Stock #

R6380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102771036-102771989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102771136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 281 (F281Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149226 (fasta)

Gene Model

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

AlphaFold

Q8VH13

Predicted Effect

probably benign
Transcript: ENSMUST00000084811
AA Change: F285Y

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000081872
Gene: ENSMUSG00000066268
AA Change: F285Y

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

probably benign
Transcript: ENSMUST00000211075
AA Change: F281Y

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000213281
AA Change: F281Y

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000215304
AA Change: F281Y

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	G	A	6: 91,900,118 (GRCm39)	G424D	probably damaging	Het
Aco1	T	C	4: 40,185,028 (GRCm39)	V566A	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Alox12e	A	G	11: 70,211,927 (GRCm39)	V194A	probably benign	Het
Anpep	A	G	7: 79,491,644 (GRCm39)	V119A	probably benign	Het
Atat1	C	A	17: 36,219,849 (GRCm39)		probably null	Het
Atp10a	G	A	7: 58,469,432 (GRCm39)	W1094*	probably null	Het
Bcl11b	T	C	12: 107,969,360 (GRCm39)	R15G	probably benign	Het
Bltp1	A	G	3: 37,087,456 (GRCm39)	D4019G	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
Ccnd1	A	G	7: 144,493,306 (GRCm39)	V42A	probably benign	Het
Cdyl2	T	A	8: 117,309,923 (GRCm39)	K344N	probably damaging	Het
Cep68	A	G	11: 20,180,498 (GRCm39)	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,118,211 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,935,357 (GRCm39)	D86E	probably damaging	Het
Dclk1	G	T	3: 55,154,615 (GRCm39)	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,393,341 (GRCm39)	K143*	probably null	Het
Duox2	A	G	2: 122,111,483 (GRCm39)	V1405A	probably benign	Het
Filip1	T	C	9: 79,726,906 (GRCm39)	E571G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Jph1	T	C	1: 17,162,071 (GRCm39)	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,437,322 (GRCm39)	L535S	probably damaging	Het
Lepr	C	A	4: 101,622,151 (GRCm39)	S361*	probably null	Het
Lfng	T	A	5: 140,600,151 (GRCm39)		probably null	Het
Lpcat2	G	A	8: 93,613,209 (GRCm39)	A250T	probably benign	Het
Mab21l4	G	A	1: 93,088,613 (GRCm39)		probably null	Het
Map3k4	A	T	17: 12,490,954 (GRCm39)	M159K	possibly damaging	Het
Notch3	A	T	17: 32,363,533 (GRCm39)	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,496,800 (GRCm39)	P477L	probably benign	Het
Or5k16	T	A	16: 58,736,627 (GRCm39)	I126L	probably damaging	Het
Or6c33	A	T	10: 129,853,782 (GRCm39)	H184L	probably benign	Het
Pald1	G	T	10: 61,186,714 (GRCm39)	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,796,022 (GRCm39)	D342G	probably damaging	Het
Plcb2	T	C	2: 118,545,949 (GRCm39)	S579G	probably damaging	Het
Prdm16	A	T	4: 154,425,824 (GRCm39)	S654T	probably benign	Het
Rab3gap2	C	A	1: 184,968,181 (GRCm39)	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,042,214 (GRCm39)	Q23*	probably null	Het
Slc14a2	T	G	18: 78,190,190 (GRCm39)	T920P	probably benign	Het
Slc17a6	G	A	7: 51,317,211 (GRCm39)	V411M	probably benign	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Syne2	T	A	12: 76,151,754 (GRCm39)	F1872I	probably damaging	Het
Tor1aip1	T	C	1: 155,894,234 (GRCm39)	E274G	possibly damaging	Het
Trpm1	A	T	7: 63,918,045 (GRCm39)	T462S	probably benign	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn1r178	A	G	7: 23,592,984 (GRCm39)	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,061,067 (GRCm39)	N172K	probably benign	Het
Whrn	G	T	4: 63,336,829 (GRCm39)	P136T	possibly damaging	Het
Zfhx4	A	G	3: 5,478,170 (GRCm39)	N3570S	probably damaging	Het
Zfp689	A	G	7: 127,043,968 (GRCm39)	S221P	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
R0503: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
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'- AGCCCTTAACTGATTCATTCTGTGC -3'
(R):5'- CTCTCACAGGCATCCTTGAC -3'

Sequencing Primer
(F):5'- GTGCGATTTTCTGACATCACAG -3'
(R):5'- AGGCATCCTTGACATAACCTTC -3'

Posted On

2018-05-04