Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00979:Or13a22'

27938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or13a22

Ensembl Gene

ENSMUSG00000063230

Gene Name

olfactory receptor family 13 subfamily A member 22

Synonyms

Olfr535, GA_x6K02T2PBJ9-42641642-42642574, MOR253-7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL00979

Quality Score

Status

Chromosome

Chromosomal Location

140072553-140073491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140072614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 21 (E21G)

Ref Sequence

ENSEMBL: ENSMUSP00000149412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074897] [ENSMUST00000213715] [ENSMUST00000214296] [ENSMUST00000216585] [ENSMUST00000217235] [ENSMUST00000217580]

AlphaFold

Q8VGL3

Predicted Effect

probably benign
Transcript: ENSMUST00000074897
AA Change: E21G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074435
Gene: ENSMUSG00000063230
AA Change: E21G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	4.5e-50	PFAM
Pfam:7TM_GPCR_Srsx	37	183	1.1e-8	PFAM
Pfam:7tm_1	43	292	5.8e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213339

Predicted Effect

probably benign
Transcript: ENSMUST00000213715
AA Change: E21G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000214296
AA Change: E21G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000216585
AA Change: E21G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216962

Predicted Effect

probably benign
Transcript: ENSMUST00000217235
AA Change: E21G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000217580
AA Change: E21G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,338 (GRCm39)	K84M	probably damaging	Het
A4gnt	T	A	9: 99,502,489 (GRCm39)	Y216*	probably null	Het
Abcb1b	A	G	5: 8,875,293 (GRCm39)		probably benign	Het
Ankrd50	G	A	3: 38,506,563 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,381,584 (GRCm39)	T89A	probably benign	Het
Ccdc15	C	T	9: 37,227,786 (GRCm39)	S236N	probably benign	Het
Cd34	A	C	1: 194,631,816 (GRCm39)	T151P	possibly damaging	Het
Col28a1	A	T	6: 8,014,810 (GRCm39)	V865E	probably damaging	Het
Csf2rb	T	A	15: 78,232,304 (GRCm39)	V537E	probably damaging	Het
Cux2	A	G	5: 122,011,777 (GRCm39)	F553L	probably damaging	Het
Dolk	A	T	2: 30,174,743 (GRCm39)	L434Q	probably damaging	Het
Dsg2	C	A	18: 20,715,824 (GRCm39)	D255E	probably damaging	Het
Endov	T	C	11: 119,391,444 (GRCm39)	V144A	probably damaging	Het
Grik2	T	C	10: 49,232,034 (GRCm39)	N499D	probably damaging	Het
Hephl1	G	T	9: 14,978,341 (GRCm39)	T855K	probably benign	Het
Hif1a	A	G	12: 73,988,784 (GRCm39)	D557G	probably damaging	Het
Idh1	G	A	1: 65,210,308 (GRCm39)	T75I	probably damaging	Het
Ighv1-37	A	G	12: 114,860,070 (GRCm39)	S47P	probably benign	Het
Irx4	A	G	13: 73,416,341 (GRCm39)		probably benign	Het
Itpr1	C	T	6: 108,448,081 (GRCm39)	A1871V	probably damaging	Het
Klkb1	A	G	8: 45,747,105 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,080 (GRCm39)	L435P	probably damaging	Het
Megf11	T	A	9: 64,416,009 (GRCm39)	Y73N	probably damaging	Het
Nfe2	T	C	15: 103,157,607 (GRCm39)	D128G	probably damaging	Het
Or4k51	T	A	2: 111,584,771 (GRCm39)	M59K	probably damaging	Het
Pak6	C	A	2: 118,526,963 (GRCm39)	L653I	probably damaging	Het
Pde4dip	T	A	3: 97,655,074 (GRCm39)		probably benign	Het
Pds5a	A	G	5: 65,789,066 (GRCm39)	V831A	probably benign	Het
Prc1	G	T	7: 79,957,444 (GRCm39)		probably null	Het
Ptprs	C	T	17: 56,765,243 (GRCm39)	G14S	probably damaging	Het
Pygb	A	G	2: 150,661,833 (GRCm39)	K520E	probably benign	Het
Rimbp2	A	G	5: 128,883,505 (GRCm39)	S92P	probably benign	Het
Samd4b	A	T	7: 28,113,638 (GRCm39)	L109Q	probably damaging	Het
Saxo4	T	C	19: 10,451,863 (GRCm39)	*428W	probably null	Het
Scn8a	A	T	15: 100,853,287 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,545,991 (GRCm39)	I23V	unknown	Het
Sec61a2	A	G	2: 5,876,831 (GRCm39)	Y350H	possibly damaging	Het
Slc4a3	A	T	1: 75,530,891 (GRCm39)	Q759L	probably damaging	Het
Speg	C	T	1: 75,387,378 (GRCm39)	P1378L	probably damaging	Het
Spta1	T	G	1: 174,035,956 (GRCm39)	Y1087*	probably null	Het
Tenm4	A	G	7: 96,378,598 (GRCm39)	E401G	probably damaging	Het
Tom1	C	A	8: 75,781,331 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,257,577 (GRCm39)	V1273D	probably damaging	Het
Vmn2r106	G	T	17: 20,497,837 (GRCm39)	D467E	possibly damaging	Het
Washc4	A	T	10: 83,386,747 (GRCm39)	T124S	probably benign	Het
Zfp790	A	G	7: 29,529,034 (GRCm39)	E573G	probably benign	Het

Other mutations in Or13a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Or13a22	APN	7	140,072,751 (GRCm39)	missense	probably damaging	1.00
IGL01639:Or13a22	APN	7	140,073,099 (GRCm39)	missense	probably benign	0.09
IGL02157:Or13a22	APN	7	140,072,847 (GRCm39)	missense	probably damaging	1.00
IGL02593:Or13a22	APN	7	140,073,244 (GRCm39)	missense	probably benign	0.04
IGL03108:Or13a22	APN	7	140,073,034 (GRCm39)	missense	possibly damaging	0.50
R1835:Or13a22	UTSW	7	140,072,622 (GRCm39)	missense	probably benign
R2040:Or13a22	UTSW	7	140,073,295 (GRCm39)	missense	probably benign	0.10
R3125:Or13a22	UTSW	7	140,072,764 (GRCm39)	missense	probably benign	0.01
R4795:Or13a22	UTSW	7	140,072,920 (GRCm39)	missense	probably damaging	1.00
R6187:Or13a22	UTSW	7	140,072,529 (GRCm39)	start gained	probably benign
R6285:Or13a22	UTSW	7	140,072,626 (GRCm39)	missense	possibly damaging	0.71
R6528:Or13a22	UTSW	7	140,072,964 (GRCm39)	missense	probably damaging	1.00
R7016:Or13a22	UTSW	7	140,073,153 (GRCm39)	missense	probably benign	0.01
R7573:Or13a22	UTSW	7	140,072,912 (GRCm39)	missense	probably damaging	1.00
R7867:Or13a22	UTSW	7	140,073,049 (GRCm39)	missense	probably benign	0.00
R8506:Or13a22	UTSW	7	140,073,336 (GRCm39)	missense	probably benign
R8822:Or13a22	UTSW	7	140,072,926 (GRCm39)	missense	possibly damaging	0.93
R9315:Or13a22	UTSW	7	140,072,935 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17