Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02330:Or10a48'

288653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or10a48

Ensembl Gene

ENSMUSG00000066241

Gene Name

olfactory receptor family 10 subfamily A member 48

Synonyms

Olfr514, MOR268-1, GA_x6K02T2PBJ9-11156311-11155379

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL02330

Quality Score

Status

Chromosome

Chromosomal Location

108424272-108425204 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 108425206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084754]

AlphaFold

Q8VFZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000084754

SMART Domains

Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	3.9e-57	PFAM
Pfam:7tm_1	40	289	5e-21	PFAM

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,325,398 (GRCm39)	I352K	probably benign	Het
Atp8a1	T	C	5: 67,970,520 (GRCm39)	N73S	probably damaging	Het
Cilp	T	C	9: 65,181,804 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,169,328 (GRCm39)	G500D	possibly damaging	Het
Cyp4a14	A	C	4: 115,352,224 (GRCm39)		probably benign	Het
Dagla	T	G	19: 10,225,386 (GRCm39)	D926A	probably damaging	Het
Ddr2	T	A	1: 169,816,093 (GRCm39)	Y538F	probably damaging	Het
Eng	T	A	2: 32,559,581 (GRCm39)		probably null	Het
Fbxo24	G	T	5: 137,619,579 (GRCm39)	L99M	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Foxp1	T	C	6: 98,922,373 (GRCm39)	N453D	probably damaging	Het
Fut8	A	G	12: 77,497,017 (GRCm39)	D409G	probably damaging	Het
Hmces	A	G	6: 87,891,517 (GRCm39)	H8R	probably damaging	Het
Ing3	T	C	6: 21,952,120 (GRCm39)	C44R	probably benign	Het
Itga1	T	A	13: 115,148,740 (GRCm39)	I294F	probably damaging	Het
Mov10l1	T	A	15: 88,910,693 (GRCm39)	S976T	probably damaging	Het
Myo15a	A	G	11: 60,367,987 (GRCm39)	Y249C	possibly damaging	Het
Nop56	T	C	2: 130,118,686 (GRCm39)	S273P	probably damaging	Het
Or1j21	C	T	2: 36,683,907 (GRCm39)	H220Y	probably benign	Het
Otog	C	T	7: 45,937,493 (GRCm39)	S1734F	possibly damaging	Het
Phc3	T	G	3: 30,990,530 (GRCm39)	E562D	probably damaging	Het
Ralb	A	T	1: 119,399,450 (GRCm39)	C203S	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Sf3b4	A	T	3: 96,080,376 (GRCm39)	T42S	possibly damaging	Het
Sgsm2	T	C	11: 74,749,493 (GRCm39)	T584A	probably benign	Het
Slco5a1	T	C	1: 13,009,284 (GRCm39)	K397R	probably damaging	Het
Trim30c	A	G	7: 104,032,165 (GRCm39)	Y299H	possibly damaging	Het
Trip6	T	C	5: 137,311,620 (GRCm39)	D119G	probably benign	Het
Uap1	A	T	1: 169,977,896 (GRCm39)	I385N	possibly damaging	Het
Vmn1r123	T	A	7: 20,896,969 (GRCm39)	I287N	probably damaging	Het
Vwce	T	C	19: 10,624,165 (GRCm39)	L352P	possibly damaging	Het
Xrn1	T	A	9: 95,855,401 (GRCm39)	Y260*	probably null	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het

Other mutations in Or10a48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Or10a48	APN	7	108,424,280 (GRCm39)	missense	probably benign	0.00
IGL01469:Or10a48	APN	7	108,424,534 (GRCm39)	missense	probably benign	0.29
IGL02079:Or10a48	APN	7	108,425,143 (GRCm39)	missense	probably damaging	0.99
IGL02662:Or10a48	APN	7	108,424,952 (GRCm39)	missense	probably benign	0.16
IGL02713:Or10a48	APN	7	108,424,801 (GRCm39)	missense	probably damaging	1.00
R1158:Or10a48	UTSW	7	108,424,385 (GRCm39)	missense	probably damaging	1.00
R1610:Or10a48	UTSW	7	108,425,131 (GRCm39)	missense	probably benign
R1638:Or10a48	UTSW	7	108,424,442 (GRCm39)	missense	probably benign	0.03
R4242:Or10a48	UTSW	7	108,424,666 (GRCm39)	missense	probably benign
R4630:Or10a48	UTSW	7	108,424,802 (GRCm39)	missense	probably damaging	1.00
R5042:Or10a48	UTSW	7	108,424,678 (GRCm39)	missense	possibly damaging	0.72
R5967:Or10a48	UTSW	7	108,424,921 (GRCm39)	missense	probably benign	0.12
R7180:Or10a48	UTSW	7	108,425,186 (GRCm39)	missense	probably damaging	0.98
Z1088:Or10a48	UTSW	7	108,425,103 (GRCm39)	nonsense	probably null

Posted On

2015-04-16