Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Or5p58'

185537

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5p58

Ensembl Gene

ENSMUSG00000059031

Gene Name

olfactory receptor family 5 subfamily P member 58

Synonyms

Olfr482, MOR204-14, GA_x6K02T2PBJ9-10424354-10423383

Accession Numbers

Essential gene?

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

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

107693804-107694775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107694454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 108 (T108P)

Ref Sequence

ENSEMBL: ENSMUSP00000150755 (fasta)

Gene Model

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

AlphaFold

Q8VG03

Predicted Effect

probably benign
Transcript: ENSMUST00000081184
AA Change: T108P

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000079948
Gene: ENSMUSG00000059031
AA Change: T108P

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 benign
Transcript: ENSMUST00000217304
AA Change: T108P

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,463 (GRCm39)	L312P	probably damaging	Het
Acap2	A	C	16: 30,946,146 (GRCm39)	W284G	probably damaging	Het
Acsf3	T	C	8: 123,506,986 (GRCm39)	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,614,368 (GRCm39)		probably benign	Het
Arap3	C	T	18: 38,124,754 (GRCm39)	G242D	probably damaging	Het
Asxl3	G	A	18: 22,657,401 (GRCm39)	V1804I	possibly damaging	Het
Bnc1	C	A	7: 81,623,251 (GRCm39)	V659L	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363 (GRCm39)	E103G	probably benign	Het
Chrm4	A	G	2: 91,758,176 (GRCm39)	T195A	probably damaging	Het
Cldn10	T	C	14: 119,092,424 (GRCm39)	I8T	probably damaging	Het
Col12a1	G	A	9: 79,599,654 (GRCm39)	S833F	probably benign	Het
Cryba2	T	A	1: 74,929,720 (GRCm39)	D139V	possibly damaging	Het
Emp1	T	A	6: 135,354,210 (GRCm39)	M1K	probably null	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Exosc4	C	A	15: 76,213,836 (GRCm39)	A220E	probably damaging	Het
Fryl	A	G	5: 73,282,112 (GRCm39)		probably benign	Het
Grid2	C	T	6: 64,040,919 (GRCm39)	T287I	probably benign	Het
Grifin	C	T	5: 140,550,494 (GRCm39)	A7T	probably damaging	Het
Gzmg	T	C	14: 56,394,798 (GRCm39)	K157E	probably benign	Het
Kcnq2	A	T	2: 180,750,819 (GRCm39)	I340N	probably damaging	Het
Klrb1	T	A	6: 128,687,600 (GRCm39)	H98L	probably benign	Het
Krt90	T	C	15: 101,471,088 (GRCm39)	H58R	possibly damaging	Het
Krtap5-2	C	A	7: 141,729,468 (GRCm39)	G71C	unknown	Het
Krtap7-1	A	T	16: 89,305,011 (GRCm39)	M47K	probably benign	Het
Lmntd1	T	A	6: 145,373,002 (GRCm39)		probably null	Het
Ly6g2	A	G	15: 75,093,505 (GRCm39)		probably benign	Het
Musk	A	G	4: 58,286,128 (GRCm39)	N6S	possibly damaging	Het
Or2aj4	A	G	16: 19,385,298 (GRCm39)	C112R	probably damaging	Het
Or51a39	A	G	7: 102,362,808 (GRCm39)	F271L	probably damaging	Het
Or56a42-ps1	A	T	7: 104,776,241 (GRCm39)	F89Y	possibly damaging	Het
Or8c15	T	A	9: 38,120,874 (GRCm39)	I122N	probably damaging	Het
Pcdh19	A	G	X: 132,586,719 (GRCm39)	M432T	probably benign	Het
Prdm1	A	G	10: 44,317,338 (GRCm39)	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,610,403 (GRCm39)	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,754,862 (GRCm39)	G1143V	probably damaging	Het
Rbbp7	A	G	X: 161,552,783 (GRCm39)		probably null	Het
Scel	C	A	14: 103,770,762 (GRCm39)	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,137,463 (GRCm39)		probably benign	Het
Sfswap	C	A	5: 129,637,860 (GRCm39)	T839N	probably benign	Het
Slc15a1	T	C	14: 121,699,911 (GRCm39)	I636V	possibly damaging	Het
Slc15a1	G	T	14: 121,699,886 (GRCm39)	P644H	probably benign	Het
Slc6a21	T	A	7: 44,935,883 (GRCm39)	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,816,913 (GRCm39)	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,665,019 (GRCm39)	L237*	probably null	Het
Trpm7	C	T	2: 126,639,863 (GRCm39)	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,161,012 (GRCm39)	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163 (GRCm39)	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,349,533 (GRCm39)	Y683F	probably benign	Het
Xrra1	T	A	7: 99,563,411 (GRCm39)	L466Q	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
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
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

Posted On

2014-05-07