Mutagenetix > Incidental Mutation

Incidental Mutation 'R5059:Or5p58'

386516

Institutional Source

Beutler Lab

Gene Symbol

Or5p58

Ensembl Gene

ENSMUSG00000059031

Gene Name

olfactory receptor family 5 subfamily P member 58

Synonyms

Olfr482, MOR204-14, GA_x6K02T2PBJ9-10424354-10423383

MMRRC Submission

042649-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R5059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107693804-107694775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107694522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 85 (L85P)

Ref Sequence

ENSEMBL: ENSMUSP00000150755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081184] [ENSMUST00000217304]

AlphaFold

Q8VG03

Predicted Effect

probably damaging
Transcript: ENSMUST00000081184
AA Change: L85P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079948
Gene: ENSMUSG00000059031
AA Change: L85P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.2e-52	PFAM
Pfam:7tm_1	44	293	8.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207291

Predicted Effect

probably damaging
Transcript: ENSMUST00000217304
AA Change: L85P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (52/53)

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
Adam26b	T	A	8: 43,973,637 (GRCm39)	N455I	probably damaging	Het
Alg12	A	G	15: 88,695,659 (GRCm39)	F279S	probably damaging	Het
Angpt4	A	G	2: 151,776,360 (GRCm39)	D296G	probably damaging	Het
Ank1	T	A	8: 23,586,204 (GRCm39)	S437T	probably damaging	Het
Apol7a	G	A	15: 77,274,012 (GRCm39)		probably benign	Het
Arhgef38	T	A	3: 132,843,175 (GRCm39)	Y465F	probably damaging	Het
Atp8a2	T	G	14: 59,928,986 (GRCm39)	T1023P	probably benign	Het
Cdh20	C	A	1: 109,993,430 (GRCm39)	A295E	probably damaging	Het
Cela3b	T	C	4: 137,152,181 (GRCm39)	E92G	probably benign	Het
Cntnap5a	T	C	1: 116,356,224 (GRCm39)	S752P	probably benign	Het
Dlx2	T	C	2: 71,376,585 (GRCm39)	H51R	probably damaging	Het
Dnm2	T	C	9: 21,415,874 (GRCm39)	I736T	probably damaging	Het
Dst	A	G	1: 34,202,427 (GRCm39)	T252A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,658 (GRCm39)	R151G	possibly damaging	Het
Gapdhs	C	T	7: 30,431,410 (GRCm39)	A357T	probably benign	Het
Gon4l	T	A	3: 88,807,319 (GRCm39)	M1671K	probably benign	Het
Gpi1	T	C	7: 33,907,113 (GRCm39)	Y327C	probably damaging	Het
Gucy2g	T	C	19: 55,214,503 (GRCm39)	R542G	probably benign	Het
Hectd3	A	G	4: 116,854,361 (GRCm39)	K308E	possibly damaging	Het
Hip1	A	G	5: 135,478,675 (GRCm39)	F178S	probably damaging	Het
Hydin	A	G	8: 111,232,401 (GRCm39)	D1640G	probably damaging	Het
Il18r1	G	A	1: 40,520,227 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,910,250 (GRCm39)	S23P	possibly damaging	Het
Lactb	T	C	9: 66,882,426 (GRCm39)	E83G	probably benign	Het
Larp4	A	T	15: 99,903,171 (GRCm39)	D414V	probably damaging	Het
Map2k5	T	C	9: 63,164,296 (GRCm39)	H336R	probably benign	Het
Mast4	T	C	13: 102,887,071 (GRCm39)	E1006G	probably damaging	Het
Mbd5	T	C	2: 49,146,467 (GRCm39)	S226P	probably damaging	Het
Micall1	A	T	15: 79,007,034 (GRCm39)		probably benign	Het
Mtpap	T	A	18: 4,375,827 (GRCm39)		probably benign	Het
Or52ae7	A	T	7: 103,119,488 (GRCm39)	K81*	probably null	Het
Pnrc1	G	A	4: 33,246,072 (GRCm39)	Q296*	probably null	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Pramel28	A	G	4: 143,691,565 (GRCm39)	V386A	probably damaging	Het
Prkcsh	T	A	9: 21,924,046 (GRCm39)	L439Q	probably damaging	Het
Prkdc	T	C	16: 15,655,882 (GRCm39)	L3970P	probably damaging	Het
Ptcd1	G	A	5: 145,089,034 (GRCm39)	P542L	probably benign	Het
Rps6ka5	G	A	12: 100,520,634 (GRCm39)	T631I	probably damaging	Het
Rxfp1	T	C	3: 79,570,619 (GRCm39)	N271S	probably benign	Het
Taf6	A	G	5: 138,177,709 (GRCm39)	M541T	probably benign	Het
Tek	T	A	4: 94,692,551 (GRCm39)	C169S	probably benign	Het
Tgfbr3l	T	A	8: 4,299,343 (GRCm39)		probably null	Het
Trpv3	A	G	11: 73,186,149 (GRCm39)	N647D	probably benign	Het
Ube3c	A	G	5: 29,836,293 (GRCm39)	K638R	probably null	Het
Vmn1r191	G	A	13: 22,363,163 (GRCm39)	A197V	probably damaging	Het
Vmn2r6	T	C	3: 64,445,044 (GRCm39)	T894A	possibly damaging	Het
Vstm4	T	G	14: 32,585,687 (GRCm39)	Y85D	probably damaging	Het
Wnt7a	A	G	6: 91,371,482 (GRCm39)	I160T	probably benign	Het
Zc3h7a	TAGAGAG	TAGAGAGAG	16: 10,978,985 (GRCm39)		probably null	Het
Zfp988	A	T	4: 147,416,372 (GRCm39)	K269*	probably null	Het

Other mutations in Or5p58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Or5p58	APN	7	107,694,046 (GRCm39)	missense	probably damaging	1.00
IGL01482:Or5p58	APN	7	107,694,693 (GRCm39)	missense	probably benign	0.01
IGL01710:Or5p58	APN	7	107,694,449 (GRCm39)	missense	probably benign	0.00
IGL02064:Or5p58	APN	7	107,694,454 (GRCm39)	missense	probably benign	0.20
IGL02930:Or5p58	APN	7	107,694,621 (GRCm39)	missense	probably damaging	1.00
IGL03206:Or5p58	APN	7	107,694,261 (GRCm39)	missense	probably damaging	1.00
IGL03255:Or5p58	APN	7	107,694,024 (GRCm39)	missense	probably damaging	1.00
R0378:Or5p58	UTSW	7	107,694,429 (GRCm39)	missense	probably benign	0.10
R0552:Or5p58	UTSW	7	107,693,985 (GRCm39)	missense	probably benign	0.01
R1538:Or5p58	UTSW	7	107,694,493 (GRCm39)	missense	probably damaging	1.00
R1771:Or5p58	UTSW	7	107,694,816 (GRCm39)	splice site	probably null
R1939:Or5p58	UTSW	7	107,694,348 (GRCm39)	missense	probably benign	0.06
R2258:Or5p58	UTSW	7	107,694,402 (GRCm39)	missense	possibly damaging	0.95
R4169:Or5p58	UTSW	7	107,694,591 (GRCm39)	missense	probably damaging	1.00
R4170:Or5p58	UTSW	7	107,694,280 (GRCm39)	missense	probably benign	0.00
R4485:Or5p58	UTSW	7	107,694,222 (GRCm39)	missense	probably benign
R4803:Or5p58	UTSW	7	107,694,666 (GRCm39)	missense	probably damaging	0.99
R4887:Or5p58	UTSW	7	107,694,303 (GRCm39)	missense	probably benign	0.18
R5445:Or5p58	UTSW	7	107,693,949 (GRCm39)	missense	possibly damaging	0.69
R5539:Or5p58	UTSW	7	107,694,433 (GRCm39)	missense	probably benign	0.23
R5644:Or5p58	UTSW	7	107,694,011 (GRCm39)	nonsense	probably null
R6200:Or5p58	UTSW	7	107,694,732 (GRCm39)	frame shift	probably null
R7171:Or5p58	UTSW	7	107,694,342 (GRCm39)	missense	probably benign	0.00
R8024:Or5p58	UTSW	7	107,694,496 (GRCm39)	missense	probably benign	0.19
R8316:Or5p58	UTSW	7	107,694,450 (GRCm39)	missense	probably benign	0.09
R9013:Or5p58	UTSW	7	107,694,471 (GRCm39)	missense	probably benign	0.02
R9376:Or5p58	UTSW	7	107,694,471 (GRCm39)	missense	possibly damaging	0.93
X0021:Or5p58	UTSW	7	107,694,166 (GRCm39)	missense	probably benign	0.20
Z1176:Or5p58	UTSW	7	107,694,201 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAAGCATTTAGAGAACTCCC -3'
(R):5'- GACCCAGTCCTTAAAGTCATCC -3'

Sequencing Primer
(F):5'- TACAACCAACTTGACACAGACTTGTG -3'
(R):5'- AGTCCTTAAAGTCATCCTCTTCAC -3'

Posted On

2016-06-06