Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01582:Or52e19b'

91382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52e19b

Ensembl Gene

ENSMUSG00000059874

Gene Name

olfactory receptor family 52 subfamily E member 19B

Synonyms

MOR32-2, GA_x6K02T2PBJ9-6092550-6092362, GA_x6K02T2PBJ9-6096387-6095449, Olfr604, Olfr603, MOR32-14_i

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01582

Quality Score

Status

Chromosome

Chromosomal Location

103032269-103033207 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 103032806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 134 (Y134*)

Ref Sequence

ENSEMBL: ENSMUSP00000151321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071844] [ENSMUST00000218246]

AlphaFold

L7N1Y4

Predicted Effect

probably null
Transcript: ENSMUST00000071844
AA Change: Y134*

SMART Domains

Protein: ENSMUSP00000071744
Gene: ENSMUSG00000059874
AA Change: Y134*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.7e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	210	1.9e-10	PFAM
Pfam:7tm_1	43	293	5.4e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000218246
AA Change: Y134*

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurkb	G	A	11: 68,939,605 (GRCm39)	V201I	probably damaging	Het
Csmd2	G	T	4: 128,457,098 (GRCm39)	E212*	probably null	Het
Dsg1a	G	T	18: 20,461,905 (GRCm39)	K335N	probably null	Het
Epn2	A	G	11: 61,412,695 (GRCm39)	S430P	probably benign	Het
Ezh2	A	T	6: 47,532,989 (GRCm39)	Y144*	probably null	Het
Fcgbp	G	T	7: 27,793,067 (GRCm39)	D1024Y	probably benign	Het
Gramd2b	A	G	18: 56,618,488 (GRCm39)	E232G	probably damaging	Het
Inf2	A	G	12: 112,576,993 (GRCm39)	K989R	unknown	Het
Lrpprc	G	A	17: 85,061,971 (GRCm39)	A577V	probably null	Het
Mansc1	T	A	6: 134,598,836 (GRCm39)	N27I	possibly damaging	Het
Nr1i3	A	T	1: 171,042,541 (GRCm39)	I56F	possibly damaging	Het
Ntpcr	T	C	8: 126,471,981 (GRCm39)	S64P	probably benign	Het
Ppwd1	A	G	13: 104,350,212 (GRCm39)	I391T	probably benign	Het
Serpinb3d	A	G	1: 107,007,396 (GRCm39)	F197L	probably damaging	Het
Siglecf	A	G	7: 43,008,145 (GRCm39)	N553D	possibly damaging	Het
Slc2a2	A	G	3: 28,762,637 (GRCm39)	D60G	probably benign	Het
Speer1j	A	G	5: 11,555,240 (GRCm39)	T70A	probably benign	Het
Spsb4	T	G	9: 96,878,143 (GRCm39)	D60A	probably damaging	Het
Tnnt1	T	C	7: 4,512,982 (GRCm39)	E100G	probably damaging	Het
Zmiz1	T	C	14: 25,658,654 (GRCm39)	M938T	probably benign	Het

Other mutations in Or52e19b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Or52e19b	APN	7	103,032,672 (GRCm39)	missense	probably damaging	0.98
IGL01788:Or52e19b	APN	7	103,032,770 (GRCm39)	missense	probably benign	0.00
IGL02837:Or52e19b	UTSW	7	103,032,822 (GRCm39)	missense	probably damaging	1.00
R1807:Or52e19b	UTSW	7	103,032,790 (GRCm39)	missense	probably benign	0.25
R2097:Or52e19b	UTSW	7	103,032,840 (GRCm39)	missense	probably damaging	1.00
R2161:Or52e19b	UTSW	7	103,032,407 (GRCm39)	missense	probably benign	0.01
R4870:Or52e19b	UTSW	7	103,032,840 (GRCm39)	missense	probably damaging	1.00
R5116:Or52e19b	UTSW	7	103,033,071 (GRCm39)	missense	probably benign	0.03
R6263:Or52e19b	UTSW	7	103,032,403 (GRCm39)	missense	possibly damaging	0.88
R6385:Or52e19b	UTSW	7	103,033,104 (GRCm39)	missense	possibly damaging	0.61
R6980:Or52e19b	UTSW	7	103,032,303 (GRCm39)	missense	probably benign	0.01
R7474:Or52e19b	UTSW	7	103,032,969 (GRCm39)	missense	probably damaging	0.99
R7754:Or52e19b	UTSW	7	103,032,945 (GRCm39)	missense	probably damaging	1.00
R7842:Or52e19b	UTSW	7	103,032,783 (GRCm39)	missense	probably benign	0.00
R7947:Or52e19b	UTSW	7	103,032,735 (GRCm39)	missense	possibly damaging	0.95
R7980:Or52e19b	UTSW	7	103,032,970 (GRCm39)	missense	probably damaging	0.99
R8176:Or52e19b	UTSW	7	103,033,071 (GRCm39)	missense	probably benign	0.03
R8523:Or52e19b	UTSW	7	103,032,413 (GRCm39)	missense	probably benign	0.31
R8817:Or52e19b	UTSW	7	103,032,825 (GRCm39)	missense	probably damaging	1.00
R8845:Or52e19b	UTSW	7	103,032,357 (GRCm39)	missense	probably damaging	0.98
R8968:Or52e19b	UTSW	7	103,032,667 (GRCm39)	missense	probably damaging	1.00
R9398:Or52e19b	UTSW	7	103,032,487 (GRCm39)	missense	probably damaging	0.97
R9770:Or52e19b	UTSW	7	103,032,613 (GRCm39)	missense	probably damaging	0.99
Z1177:Or52e19b	UTSW	7	103,033,009 (GRCm39)	missense	probably benign	0.03

Posted On

2013-12-09