Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01622:Or4b13'

278610

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4b13

Ensembl Gene

ENSMUSG00000075063

Gene Name

olfactory receptor family 4 subfamily B member 13

Synonyms

K20, Olfr142, GA_x6K02T2Q125-51607674-51606757, MOR227-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01622

Quality Score

Status

Chromosome

Chromosomal Location

90082413-90083330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 90082953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 126 (K126N)

Ref Sequence

ENSEMBL: ENSMUSP00000150216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099752] [ENSMUST00000213968]

AlphaFold

Q60881

Predicted Effect

probably damaging
Transcript: ENSMUST00000099752
AA Change: K126N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097341
Gene: ENSMUSG00000075063
AA Change: K126N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.3e-53	PFAM
Pfam:7TM_GPCR_Srsx	33	300	3e-6	PFAM
Pfam:7tm_1	39	285	5.8e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213968
AA Change: K126N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,532,024 (GRCm39)	Q184*	probably null	Het
A1bg	A	C	15: 60,789,742 (GRCm39)	I502S	possibly damaging	Het
Actl11	T	C	9: 107,805,775 (GRCm39)	S33P	probably benign	Het
Aftph	G	T	11: 20,659,632 (GRCm39)	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,767,773 (GRCm39)		probably benign	Het
Brf1	T	G	12: 112,924,795 (GRCm39)	E643A	probably benign	Het
Caskin1	G	T	17: 24,722,914 (GRCm39)		probably null	Het
Ccnjl	T	C	11: 43,476,154 (GRCm39)	V259A	probably benign	Het
Ccser2	G	T	14: 36,662,920 (GRCm39)	T88K	probably benign	Het
Cdk17	T	C	10: 93,074,824 (GRCm39)		probably benign	Het
Clec16a	G	A	16: 10,395,774 (GRCm39)	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,233,191 (GRCm39)	A633S	probably benign	Het
Ctnnbl1	A	T	2: 157,661,468 (GRCm39)	N326I	probably damaging	Het
Cyp46a1	T	C	12: 108,318,234 (GRCm39)	V215A	possibly damaging	Het
Daxx	A	G	17: 34,132,454 (GRCm39)	D528G	probably benign	Het
Dnah6	T	C	6: 73,121,701 (GRCm39)	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,422,169 (GRCm39)	T228I	probably damaging	Het
Fam131c	C	T	4: 141,109,761 (GRCm39)	A131V	possibly damaging	Het
Fat1	A	G	8: 45,482,592 (GRCm39)	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,578,175 (GRCm39)	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,155,924 (GRCm39)	I514K	probably benign	Het
Ficd	G	A	5: 113,876,622 (GRCm39)	G266S	probably damaging	Het
Frem3	A	G	8: 81,340,544 (GRCm39)	T946A	probably benign	Het
Gan	T	A	8: 117,913,917 (GRCm39)	V105D	probably damaging	Het
Garin5b	A	G	7: 4,761,722 (GRCm39)	V330A	probably benign	Het
Gramd1c	A	G	16: 43,811,061 (GRCm39)	V221A	probably damaging	Het
Hacd1	A	G	2: 14,040,667 (GRCm39)	V196A	probably benign	Het
Kcna6	C	A	6: 126,715,576 (GRCm39)	V438L	probably damaging	Het
Kif14	T	C	1: 136,425,094 (GRCm39)		probably benign	Het
Klhl41	T	C	2: 69,508,582 (GRCm39)	V512A	probably benign	Het
Lrfn1	A	G	7: 28,166,111 (GRCm39)	T502A	probably damaging	Het
Notch3	A	T	17: 32,377,844 (GRCm39)	F105I	possibly damaging	Het
Or5m10	A	T	2: 85,717,306 (GRCm39)	H54L	probably benign	Het
P3h1	C	T	4: 119,092,480 (GRCm39)	T171I	probably damaging	Het
Pcdhb1	A	G	18: 37,399,366 (GRCm39)	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,423,578 (GRCm39)	K225*	probably null	Het
Pik3c3	A	G	18: 30,426,102 (GRCm39)		probably benign	Het
Pik3r5	T	A	11: 68,377,452 (GRCm39)		probably null	Het
Pnpt1	A	C	11: 29,098,272 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,789,422 (GRCm39)	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,396,440 (GRCm39)		probably benign	Het
Sec14l2	G	A	11: 4,053,966 (GRCm39)	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,328,915 (GRCm39)	D1033E	probably benign	Het
Septin14	A	G	5: 129,763,019 (GRCm39)	V357A	probably damaging	Het
Sf3a3	C	T	4: 124,612,136 (GRCm39)	T131I	possibly damaging	Het
Snrpa	A	T	7: 26,892,395 (GRCm39)	M55K	probably benign	Het
Swt1	G	T	1: 151,286,760 (GRCm39)	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,246,238 (GRCm39)	T253A	probably benign	Het
Tst	G	T	15: 78,283,964 (GRCm39)	R288S	probably benign	Het
Vmn2r60	A	G	7: 41,785,910 (GRCm39)	I238V	probably benign	Het
Zbtb14	A	G	17: 69,695,184 (GRCm39)	K294R	probably benign	Het
Zfp710	T	A	7: 79,730,871 (GRCm39)	V16E	probably damaging	Het
Zfpm2	A	G	15: 40,965,320 (GRCm39)	T602A	probably benign	Het
Zfr2	G	A	10: 81,087,193 (GRCm39)	M850I	probably benign	Het

Other mutations in Or4b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01623:Or4b13	APN	2	90,082,953 (GRCm39)	missense	probably damaging	1.00
IGL01810:Or4b13	APN	2	90,082,476 (GRCm39)	nonsense	probably null
IGL01918:Or4b13	APN	2	90,082,675 (GRCm39)	missense	probably damaging	1.00
IGL02619:Or4b13	APN	2	90,082,849 (GRCm39)	missense	probably damaging	0.97
IGL02732:Or4b13	APN	2	90,082,652 (GRCm39)	missense	probably damaging	1.00
IGL02738:Or4b13	APN	2	90,082,699 (GRCm39)	missense	possibly damaging	0.82
IGL02795:Or4b13	APN	2	90,082,906 (GRCm39)	missense	probably damaging	1.00
IGL02830:Or4b13	APN	2	90,083,125 (GRCm39)	missense	probably damaging	1.00
R0601:Or4b13	UTSW	2	90,083,278 (GRCm39)	missense	probably benign	0.05
R2004:Or4b13	UTSW	2	90,083,036 (GRCm39)	missense	probably benign	0.04
R2136:Or4b13	UTSW	2	90,082,597 (GRCm39)	missense	probably damaging	0.98
R2377:Or4b13	UTSW	2	90,083,255 (GRCm39)	missense	probably damaging	1.00
R3615:Or4b13	UTSW	2	90,082,753 (GRCm39)	missense	possibly damaging	0.94
R3616:Or4b13	UTSW	2	90,082,753 (GRCm39)	missense	possibly damaging	0.94
R3777:Or4b13	UTSW	2	90,082,969 (GRCm39)	missense	probably damaging	1.00
R4763:Or4b13	UTSW	2	90,082,807 (GRCm39)	missense	probably damaging	1.00
R4765:Or4b13	UTSW	2	90,082,807 (GRCm39)	missense	probably damaging	1.00
R5421:Or4b13	UTSW	2	90,083,089 (GRCm39)	missense	probably benign	0.01
R5426:Or4b13	UTSW	2	90,082,955 (GRCm39)	nonsense	probably null
R6063:Or4b13	UTSW	2	90,082,771 (GRCm39)	missense	probably benign	0.40
R6717:Or4b13	UTSW	2	90,082,868 (GRCm39)	missense	probably benign	0.00
R6931:Or4b13	UTSW	2	90,083,121 (GRCm39)	nonsense	probably null
R6936:Or4b13	UTSW	2	90,082,678 (GRCm39)	missense	probably benign	0.17
R7013:Or4b13	UTSW	2	90,082,441 (GRCm39)	missense	possibly damaging	0.87
R7091:Or4b13	UTSW	2	90,082,807 (GRCm39)	missense	probably damaging	1.00
R7247:Or4b13	UTSW	2	90,083,165 (GRCm39)	missense	probably damaging	1.00
R8169:Or4b13	UTSW	2	90,082,442 (GRCm39)	nonsense	probably null
R8345:Or4b13	UTSW	2	90,082,561 (GRCm39)	missense	possibly damaging	0.50
R9222:Or4b13	UTSW	2	90,082,820 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16