Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01328:Or4k39'

74361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4k39

Ensembl Gene

ENSMUSG00000062280

Gene Name

olfactory receptor family 4 subfamily K member 39, pseudogene 1

Synonyms

GA_x6K02T2Q125-72459956-72460837, MOR248-25_p, MOR248-17P, Olfr1285

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL01328

Quality Score

Status

Chromosome

Chromosomal Location

111238802-111239643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111239564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 268 (Y268C)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000150164
AA Change: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121467
Gene: ENSMUSG00000062280
AA Change: Y268C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	24	293	2.9e-40	PFAM
Pfam:7tm_1	34	280	1.8e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220153

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	C	T	18: 59,181,954 (GRCm39)	S1131F	possibly damaging	Het
Alg14	G	A	3: 121,155,232 (GRCm39)	V151I	probably benign	Het
Ano5	G	A	7: 51,206,019 (GRCm39)		probably null	Het
Arhgef28	A	T	13: 98,106,831 (GRCm39)	C698S	probably damaging	Het
Cacnb4	T	C	2: 52,354,637 (GRCm39)	H247R	probably damaging	Het
Clec12b	A	T	6: 129,356,517 (GRCm39)	W216R	probably damaging	Het
Clnk	C	T	5: 38,941,871 (GRCm39)	S35N	possibly damaging	Het
Cnot4	T	A	6: 35,055,049 (GRCm39)	N80I	probably damaging	Het
Cntn5	C	T	9: 9,781,773 (GRCm39)	M635I	probably damaging	Het
Dlg5	A	G	14: 24,252,419 (GRCm39)	V107A	probably damaging	Het
Dsc2	A	T	18: 20,181,343 (GRCm39)	F155I	probably damaging	Het
Dtwd1	A	G	2: 126,006,739 (GRCm39)	I254V	probably damaging	Het
Dzip3	A	T	16: 48,792,621 (GRCm39)	D221E	probably damaging	Het
F13b	T	A	1: 139,435,820 (GRCm39)		probably benign	Het
Fam131b	G	A	6: 42,295,206 (GRCm39)	L324F	probably damaging	Het
Fam83a	A	T	15: 57,849,901 (GRCm39)	R148S	probably damaging	Het
Farsb	T	C	1: 78,447,729 (GRCm39)	I236V	probably benign	Het
Fat4	T	A	3: 39,034,807 (GRCm39)	F2820I	probably damaging	Het
Fat4	T	A	3: 38,944,140 (GRCm39)	V1011E	probably damaging	Het
Fgf7	A	G	2: 125,930,164 (GRCm39)	E99G	probably damaging	Het
Fign	T	C	2: 63,809,216 (GRCm39)	T685A	probably damaging	Het
Fubp1	G	A	3: 151,925,855 (GRCm39)	G289E	probably damaging	Het
Gata6	G	T	18: 11,064,530 (GRCm39)	M477I	probably damaging	Het
Gm14496	A	G	2: 181,637,673 (GRCm39)	Y249C	probably damaging	Het
Hectd1	T	C	12: 51,807,904 (GRCm39)	D1768G	probably damaging	Het
Htatip2	T	A	7: 49,420,697 (GRCm39)		probably null	Het
Irs2	C	A	8: 11,054,792 (GRCm39)	Q1213H	probably damaging	Het
Jak3	C	T	8: 72,132,264 (GRCm39)	R210C	probably damaging	Het
Klk1b27	T	C	7: 43,705,303 (GRCm39)	S157P	probably damaging	Het
Klri1	T	C	6: 129,675,800 (GRCm39)	S157G	probably damaging	Het
Mtmr2	G	T	9: 13,713,223 (GRCm39)	G395*	probably null	Het
Mx1	T	A	16: 97,256,832 (GRCm39)	I116F	probably damaging	Het
Oip5	A	C	2: 119,442,314 (GRCm39)	M200R	possibly damaging	Het
Or10ag56	T	A	2: 87,139,925 (GRCm39)	L284Q	possibly damaging	Het
Or10g3	T	C	14: 52,609,967 (GRCm39)	D181G	probably damaging	Het
Or4b1d	T	C	2: 89,969,418 (GRCm39)	K22E	probably benign	Het
Pamr1	T	A	2: 102,472,482 (GRCm39)	S594T	probably benign	Het
Phf13	C	T	4: 152,080,285 (GRCm39)	E13K	probably benign	Het
Plekha6	A	T	1: 133,200,074 (GRCm39)		probably null	Het
Rad17	A	C	13: 100,754,311 (GRCm39)	N636K	probably benign	Het
Rad21	T	A	15: 51,836,520 (GRCm39)	D217V	probably damaging	Het
Slc7a10	A	G	7: 34,885,917 (GRCm39)	D4G	possibly damaging	Het
Stc1	A	G	14: 69,275,726 (GRCm39)	D173G	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tex15	C	T	8: 34,061,424 (GRCm39)	Q559*	probably null	Het
Trim44	T	A	2: 102,230,365 (GRCm39)	E222V	probably benign	Het
Ubr5	T	C	15: 37,981,767 (GRCm39)	E2343G	possibly damaging	Het
Vmn2r86	T	C	10: 130,288,365 (GRCm39)	T379A	possibly damaging	Het
Vmn2r93	A	G	17: 18,545,819 (GRCm39)	T564A	probably benign	Het
Vsir	C	A	10: 60,203,539 (GRCm39)		probably benign	Het
Vwc2l	T	A	1: 70,768,163 (GRCm39)		probably null	Het
Xrn2	T	C	2: 146,871,850 (GRCm39)	V396A	possibly damaging	Het
Zbbx	T	A	3: 75,000,382 (GRCm39)	K208*	probably null	Het
Zfhx4	C	A	3: 5,309,344 (GRCm39)	L857M	probably damaging	Het
Zfp180	A	G	7: 23,800,904 (GRCm39)	D53G	probably benign	Het

Other mutations in Or4k39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Or4k39	APN	2	111,239,078 (GRCm39)	missense	probably damaging	0.99
IGL02109:Or4k39	APN	2	111,238,838 (GRCm39)	exon	noncoding transcript
IGL02407:Or4k39	APN	2	111,238,923 (GRCm39)	exon	noncoding transcript
R0054:Or4k39	UTSW	2	111,239,140 (GRCm39)	missense	probably benign	0.00
R1665:Or4k39	UTSW	2	111,239,098 (GRCm39)	missense	probably damaging	1.00
R2339:Or4k39	UTSW	2	111,239,534 (GRCm39)	missense	probably benign	0.36
R3876:Or4k39	UTSW	2	111,238,967 (GRCm39)	missense	possibly damaging	0.57
R4260:Or4k39	UTSW	2	111,238,850 (GRCm39)	exon	noncoding transcript
R4439:Or4k39	UTSW	2	111,239,653 (GRCm39)	exon	noncoding transcript
R4762:Or4k39	UTSW	2	111,239,225 (GRCm39)	exon	noncoding transcript
R4821:Or4k39	UTSW	2	111,239,570 (GRCm39)	exon	noncoding transcript
R5120:Or4k39	UTSW	2	111,239,585 (GRCm39)	exon	noncoding transcript
R5215:Or4k39	UTSW	2	111,239,631 (GRCm39)	exon	noncoding transcript
R5244:Or4k39	UTSW	2	111,238,899 (GRCm39)	exon	noncoding transcript
R5667:Or4k39	UTSW	2	111,238,818 (GRCm39)	exon	noncoding transcript
R5671:Or4k39	UTSW	2	111,238,818 (GRCm39)	exon	noncoding transcript
R5687:Or4k39	UTSW	2	111,239,033 (GRCm39)	exon	noncoding transcript

Posted On

2013-10-07