Mutagenetix > Incidental Mutation

Incidental Mutation 'R5445:Or5p58'

427405

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

043010-MU

Accession Numbers

Essential gene?

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

Stock #

R5445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107693804-107694775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107693949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 276 (V276A)

Ref Sequence

ENSEMBL: ENSMUSP00000150755 (fasta)

Gene Model

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

AlphaFold

Q8VG03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081184
AA Change: V276A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079948
Gene: ENSMUSG00000059031
AA Change: V276A

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

possibly damaging
Transcript: ENSMUST00000217304
AA Change: V276A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,978,557 (GRCm39)	D300E	probably damaging	Het
Apbb1ip	T	C	2: 22,725,960 (GRCm39)	V244A	possibly damaging	Het
Arhgap32	T	C	9: 32,159,678 (GRCm39)	S232P	probably benign	Het
Atf7ip	G	A	6: 136,564,255 (GRCm39)	V833M	probably damaging	Het
Casp7	A	G	19: 56,421,770 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,590,067 (GRCm39)	D259G	probably damaging	Het
Celsr2	T	A	3: 108,299,974 (GRCm39)	E2911D	probably benign	Het
Cep350	T	C	1: 155,770,469 (GRCm39)	D1807G	probably benign	Het
Cfap251	C	T	5: 123,425,240 (GRCm39)	T294M	probably damaging	Het
Chrd	A	G	16: 20,557,660 (GRCm39)	T753A	possibly damaging	Het
Clasp2	A	G	9: 113,733,014 (GRCm39)	D971G	probably damaging	Het
Cnnm2	A	G	19: 46,865,727 (GRCm39)	T772A	possibly damaging	Het
Cntn1	A	T	15: 92,192,958 (GRCm39)	N687Y	probably damaging	Het
Col6a3	G	A	1: 90,709,761 (GRCm39)	R1812*	probably null	Het
Dsc2	T	C	18: 20,168,360 (GRCm39)	I700V	possibly damaging	Het
Flt3	G	A	5: 147,291,905 (GRCm39)	Q540*	probably null	Het
Fmo4	T	A	1: 162,632,842 (GRCm39)	I170F	probably benign	Het
Fra10ac1	T	A	19: 38,207,910 (GRCm39)	D72V	possibly damaging	Het
Garin2	G	A	12: 78,761,890 (GRCm39)	E185K	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm2381	T	G	7: 42,469,425 (GRCm39)	H233P	probably damaging	Het
Gm5148	T	A	3: 37,768,995 (GRCm39)	Q75L	probably damaging	Het
Gm8369	T	C	19: 11,482,170 (GRCm39)	V27A	possibly damaging	Het
Gpr157	T	C	4: 150,186,825 (GRCm39)	S318P	probably benign	Het
Hectd4	G	A	5: 121,404,337 (GRCm39)	V405M	probably benign	Het
Hemgn	T	C	4: 46,400,738 (GRCm39)	R41G	probably benign	Het
Hhipl1	T	A	12: 108,294,467 (GRCm39)	L791Q	probably damaging	Het
Hjurp	T	G	1: 88,194,038 (GRCm39)	K290T	probably benign	Het
Ifi207	T	C	1: 173,555,363 (GRCm39)	E773G	probably damaging	Het
Kcnh6	T	C	11: 105,914,685 (GRCm39)	Y697H	probably damaging	Het
Lonrf2	T	C	1: 38,846,234 (GRCm39)	T313A	probably benign	Het
Lrba	G	T	3: 86,275,902 (GRCm39)	V1757L	probably benign	Het
Lrrc24	T	C	15: 76,600,306 (GRCm39)	T278A	probably benign	Het
Ltbp2	T	C	12: 84,856,428 (GRCm39)	I679V	probably null	Het
Mapk4	G	T	18: 74,064,073 (GRCm39)	T383K	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mia3	A	G	1: 183,117,471 (GRCm39)	V208A	probably benign	Het
Myo15a	C	A	11: 60,411,603 (GRCm39)	C3234*	probably null	Het
Nlrp1b	G	T	11: 71,108,701 (GRCm39)	Q267K	probably benign	Het
Nphp3	A	G	9: 103,881,922 (GRCm39)	K37E	probably damaging	Het
Nwd2	T	C	5: 63,962,681 (GRCm39)	M755T	probably damaging	Het
Or10u4	T	A	10: 129,802,158 (GRCm39)	H137L	probably benign	Het
Or52ac1	A	G	7: 104,246,028 (GRCm39)	F120S	probably damaging	Het
Pdlim5	C	T	3: 142,058,495 (GRCm39)	R83K	probably null	Het
Plekha5	A	T	6: 140,498,459 (GRCm39)	R173*	probably null	Het
Pramel25	T	A	4: 143,521,707 (GRCm39)	V441E	possibly damaging	Het
Rbms3	T	A	9: 117,080,853 (GRCm39)	D6V	possibly damaging	Het
Rhoq	A	T	17: 87,271,755 (GRCm39)	Y57F	probably benign	Het
Rrm1	A	T	7: 102,100,230 (GRCm39)	T204S	possibly damaging	Het
Slf1	A	T	13: 77,239,323 (GRCm39)	I447N	probably benign	Het
Smarcc2	T	A	10: 128,323,943 (GRCm39)		probably benign	Het
Spdye4c	C	T	2: 128,438,484 (GRCm39)	Q281*	probably null	Het
Tert	T	A	13: 73,792,403 (GRCm39)	M890K	probably benign	Het
Tln1	C	A	4: 43,543,905 (GRCm39)	R1198L	probably benign	Het
Tmco4	A	G	4: 138,748,178 (GRCm39)	M253V	probably damaging	Het
Usp19	G	T	9: 108,375,119 (GRCm39)	V782F	possibly damaging	Het
Usp33	T	A	3: 152,080,260 (GRCm39)	S464T	probably damaging	Het
Usp47	A	T	7: 111,673,928 (GRCm39)	Y397F	probably damaging	Het
Vmn1r12	A	G	6: 57,136,466 (GRCm39)	T144A	probably benign	Het
Vmn2r90	A	T	17: 17,954,386 (GRCm39)	H850L	probably benign	Het
Zfhx3	A	T	8: 109,682,842 (GRCm39)	Q3427L	unknown	Het
Zfp236	G	T	18: 82,700,281 (GRCm39)	Q63K	probably benign	Het
Zfp7	T	A	15: 76,775,054 (GRCm39)	C365*	probably null	Het
Zfp786	T	C	6: 47,796,619 (GRCm39)	E773G	probably damaging	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
R5059:Or5p58	UTSW	7	107,694,522 (GRCm39)	missense	probably damaging	1.00
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'- CCGCTCTCCAAGGTACAATTG -3'
(R):5'- CCTGTGGCTGTTACCTCATG -3'

Sequencing Primer
(F):5'- CTCTTCAGAGCACCCTTA -3'
(R):5'- ACAGTGTTTGTCATAGCCGTC -3'

Posted On

2016-09-01