Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01894:Or13a24'

179324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or13a24

Ensembl Gene

ENSMUSG00000095901

Gene Name

olfactory receptor family 13 subfamily A member 24

Synonyms

Olfr538, MOR253-13P, MOR253-13P, MOR253-12P, GA_x6K02T2PBJ9-42723314-42724246, MOR253-10P, Olfr1523-ps1, Olfr1553-ps1, MOR253-12P

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01894

Quality Score

Status

Chromosome

Chromosomal Location

140154068-140155000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140154683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 206 (Y206H)

Ref Sequence

ENSEMBL: ENSMUSP00000147315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084457] [ENSMUST00000210973]

AlphaFold

Q7TRT5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084457
AA Change: Y206H

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081495
Gene: ENSMUSG00000095901
AA Change: Y206H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	304	2.8e-6	PFAM
Pfam:7tm_1	41	290	2.5e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210973
AA Change: Y206H

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,324,865 (GRCm39)	I530L	probably benign	Het
Adam3	T	C	8: 25,177,954 (GRCm39)	D653G	probably benign	Het
Car13	T	C	3: 14,726,525 (GRCm39)	F227S	probably damaging	Het
Cdc27	T	C	11: 104,417,747 (GRCm39)	N300S	probably benign	Het
Fat3	C	T	9: 16,287,145 (GRCm39)	V793I	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gpa33	T	A	1: 165,992,785 (GRCm39)	D299E	probably benign	Het
Kif5a	C	T	10: 127,098,648 (GRCm39)	V40I	probably benign	Het
Lama3	A	G	18: 12,705,121 (GRCm39)	H1455R	probably benign	Het
Lamc1	T	C	1: 153,122,828 (GRCm39)	K751E	possibly damaging	Het
Nek5	T	A	8: 22,603,835 (GRCm39)	H114L	probably damaging	Het
Nipal1	G	A	5: 72,820,882 (GRCm39)	A37T	probably benign	Het
Or5b101	G	T	19: 13,005,649 (GRCm39)	L15I	probably damaging	Het
Or5b96	T	C	19: 12,867,007 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,504,175 (GRCm39)	Y622H	possibly damaging	Het
Pknox2	G	T	9: 36,835,038 (GRCm39)	H144N	probably damaging	Het
Ppp4r4	A	G	12: 103,559,397 (GRCm39)	Y526C	probably damaging	Het
Prdm10	A	G	9: 31,227,557 (GRCm39)	D54G	probably damaging	Het
Rpn2	C	T	2: 157,136,093 (GRCm39)	T167I	probably benign	Het
Slc22a30	G	T	19: 8,364,021 (GRCm39)	H218Q	probably benign	Het
Supt6	A	G	11: 78,113,664 (GRCm39)	S878P	probably benign	Het
Tmem184c	A	T	8: 78,323,775 (GRCm39)	C362*	probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wscd2	C	T	5: 113,710,357 (GRCm39)	R294W	probably damaging	Het

Other mutations in Or13a24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02066:Or13a24	APN	7	140,154,413 (GRCm39)	missense	possibly damaging	0.55
IGL02214:Or13a24	APN	7	140,154,470 (GRCm39)	nonsense	probably null
IGL02466:Or13a24	APN	7	140,154,684 (GRCm39)	missense	probably benign	0.01
IGL02534:Or13a24	APN	7	140,154,554 (GRCm39)	missense	probably benign	0.00
R0631:Or13a24	UTSW	7	140,154,420 (GRCm39)	missense	probably damaging	1.00
R0989:Or13a24	UTSW	7	140,154,200 (GRCm39)	missense	probably damaging	0.99
R1470:Or13a24	UTSW	7	140,154,662 (GRCm39)	missense	probably benign	0.02
R1470:Or13a24	UTSW	7	140,154,662 (GRCm39)	missense	probably benign	0.02
R1533:Or13a24	UTSW	7	140,155,034 (GRCm39)	splice site	probably null
R1764:Or13a24	UTSW	7	140,154,383 (GRCm39)	missense	probably damaging	0.97
R2184:Or13a24	UTSW	7	140,154,315 (GRCm39)	missense	probably benign
R2513:Or13a24	UTSW	7	140,154,069 (GRCm39)	start codon destroyed	probably null	0.97
R4445:Or13a24	UTSW	7	140,154,302 (GRCm39)	missense	probably damaging	1.00
R4476:Or13a24	UTSW	7	140,154,842 (GRCm39)	missense	probably damaging	1.00
R4607:Or13a24	UTSW	7	140,154,554 (GRCm39)	missense	probably benign	0.02
R4608:Or13a24	UTSW	7	140,154,554 (GRCm39)	missense	probably benign	0.02
R4752:Or13a24	UTSW	7	140,154,515 (GRCm39)	missense	possibly damaging	0.57
R6934:Or13a24	UTSW	7	140,154,564 (GRCm39)	missense	probably damaging	1.00
R6978:Or13a24	UTSW	7	140,154,200 (GRCm39)	missense	probably damaging	0.99
R7559:Or13a24	UTSW	7	140,154,356 (GRCm39)	missense	probably damaging	1.00
R7583:Or13a24	UTSW	7	140,154,123 (GRCm39)	missense	probably benign	0.01
R7685:Or13a24	UTSW	7	140,154,159 (GRCm39)	missense	probably damaging	1.00
R8406:Or13a24	UTSW	7	140,154,044 (GRCm39)	start gained	probably benign
R8884:Or13a24	UTSW	7	140,154,224 (GRCm39)	missense	probably benign	0.00
Z1177:Or13a24	UTSW	7	140,154,869 (GRCm39)	missense	probably benign	0.15

Posted On

2014-05-07