Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02545:Osmr'

297778

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osmr

Ensembl Gene

ENSMUSG00000022146

Gene Name

oncostatin M receptor

Synonyms

OSMRB

Accession Numbers

Essential gene?

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

Stock #

IGL02545

Quality Score

Status

Chromosome

Chromosomal Location

6843049-6904434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6853060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 611 (K611E)

Ref Sequence

ENSEMBL: ENSMUSP00000135204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022746] [ENSMUST00000176826]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022746
AA Change: K612E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: K612E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	26	35	N/A	INTRINSIC
Blast:FN3	234	317	9e-38	BLAST
FN3	330	412	6.25e-3	SMART
FN3	427	512	2.75e0	SMART
FN3	523	607	7.02e1	SMART
FN3	619	720	3.17e-4	SMART
transmembrane domain	736	758	N/A	INTRINSIC
low complexity region	776	787	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176554

Predicted Effect

probably damaging
Transcript: ENSMUST00000176826
AA Change: K611E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: K611E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	26	35	N/A	INTRINSIC
Blast:FN3	234	317	9e-38	BLAST
FN3	330	412	6.25e-3	SMART
FN3	427	512	2.75e0	SMART
FN3	523	606	2.77e1	SMART
FN3	618	719	3.17e-4	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	775	786	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells. Homozygotes also show increased susceptibility to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 159,902,994 (GRCm39)	L88P	probably damaging	Het
Adamtsl4	G	A	3: 95,590,684 (GRCm39)	Q354*	probably null	Het
Aox3	A	C	1: 58,222,645 (GRCm39)	D1146A	probably damaging	Het
Ap2a1	T	A	7: 44,555,850 (GRCm39)	H340L	probably damaging	Het
Ccni	G	T	5: 93,335,636 (GRCm39)	F167L	probably benign	Het
Ctcf	A	G	8: 106,391,013 (GRCm39)	T207A	probably benign	Het
D930020B18Rik	A	G	10: 121,525,838 (GRCm39)	H580R	possibly damaging	Het
Dnaaf6rt	A	G	1: 31,262,177 (GRCm39)	D53G	probably damaging	Het
Dock3	A	T	9: 106,939,271 (GRCm39)	L159Q	probably damaging	Het
Dync1i2	T	C	2: 71,093,095 (GRCm39)	I630T	possibly damaging	Het
Fchsd2	A	G	7: 100,847,715 (GRCm39)	T202A	probably benign	Het
Gdi2	A	G	13: 3,607,009 (GRCm39)	Y214C	probably damaging	Het
Gna14	T	A	19: 16,511,090 (GRCm39)	S46R	probably damaging	Het
Hfm1	A	G	5: 107,043,153 (GRCm39)	I627T	probably damaging	Het
Ighv1-19	G	A	12: 114,672,359 (GRCm39)	A87V	probably damaging	Het
Itch	G	A	2: 155,014,506 (GRCm39)		probably null	Het
Klrb1b	T	C	6: 128,797,272 (GRCm39)	Q72R	possibly damaging	Het
Lrpprc	A	G	17: 85,082,853 (GRCm39)	F144L	probably benign	Het
Lrrc7	A	G	3: 157,891,011 (GRCm39)		probably benign	Het
Ndufa11	T	A	17: 57,028,338 (GRCm39)	F72L	probably damaging	Het
Neu1	T	A	17: 35,150,477 (GRCm39)	V32E	probably benign	Het
Or5k17	T	A	16: 58,746,833 (GRCm39)	I34F	possibly damaging	Het
Pcdh20	A	G	14: 88,706,280 (GRCm39)	V340A	possibly damaging	Het
Plxna2	T	A	1: 194,468,998 (GRCm39)		probably benign	Het
Pou6f1	C	T	15: 100,481,306 (GRCm39)	W210*	probably null	Het
Ppat	A	G	5: 77,063,079 (GRCm39)	Y511H	probably damaging	Het
Psme4	T	G	11: 30,791,586 (GRCm39)	V1147G	possibly damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sptb	A	G	12: 76,654,754 (GRCm39)		probably null	Het
Tcl1b5	T	A	12: 105,146,296 (GRCm39)		probably benign	Het
Trim54	T	A	5: 31,289,509 (GRCm39)		probably benign	Het
Unc13c	C	T	9: 73,388,357 (GRCm39)	R2143Q	probably damaging	Het
Vmn1r56	A	T	7: 5,199,113 (GRCm39)	V168D	probably benign	Het
Vmn2r66	A	T	7: 84,655,798 (GRCm39)	M406K	possibly damaging	Het

Other mutations in Osmr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Osmr	APN	15	6,873,926 (GRCm39)	nonsense	probably null
IGL00335:Osmr	APN	15	6,866,504 (GRCm39)	missense	probably benign	0.00
IGL00497:Osmr	APN	15	6,876,547 (GRCm39)	missense	probably benign	0.26
IGL00510:Osmr	APN	15	6,853,112 (GRCm39)	nonsense	probably null
IGL00811:Osmr	APN	15	6,845,147 (GRCm39)	missense	probably benign	0.28
IGL00959:Osmr	APN	15	6,854,086 (GRCm39)	missense	probably benign	0.12
IGL01115:Osmr	APN	15	6,876,682 (GRCm39)	splice site	probably benign
IGL01307:Osmr	APN	15	6,873,908 (GRCm39)	missense	probably damaging	1.00
IGL01330:Osmr	APN	15	6,871,509 (GRCm39)	missense	probably damaging	1.00
IGL01633:Osmr	APN	15	6,854,085 (GRCm39)	missense	probably damaging	1.00
IGL01780:Osmr	APN	15	6,858,144 (GRCm39)	missense	probably benign	0.00
IGL02164:Osmr	APN	15	6,871,529 (GRCm39)	missense	probably damaging	0.99
IGL02207:Osmr	APN	15	6,876,628 (GRCm39)	missense	probably benign	0.07
IGL02338:Osmr	APN	15	6,867,210 (GRCm39)	nonsense	probably null
IGL02350:Osmr	APN	15	6,858,144 (GRCm39)	missense	probably benign	0.00
IGL02357:Osmr	APN	15	6,858,144 (GRCm39)	missense	probably benign	0.00
IGL02619:Osmr	APN	15	6,871,475 (GRCm39)	missense	probably damaging	1.00
IGL02685:Osmr	APN	15	6,845,054 (GRCm39)	missense	probably benign	0.00
IGL02959:Osmr	APN	15	6,845,378 (GRCm39)	missense	possibly damaging	0.93
IGL03303:Osmr	APN	15	6,872,289 (GRCm39)	missense	probably benign	0.03
FR4548:Osmr	UTSW	15	6,867,184 (GRCm39)	small insertion	probably benign
FR4737:Osmr	UTSW	15	6,867,187 (GRCm39)	nonsense	probably null
R0149:Osmr	UTSW	15	6,871,432 (GRCm39)	critical splice donor site	probably null
R0361:Osmr	UTSW	15	6,871,432 (GRCm39)	critical splice donor site	probably null
R0492:Osmr	UTSW	15	6,853,999 (GRCm39)	missense	probably damaging	1.00
R0538:Osmr	UTSW	15	6,871,419 (GRCm39)	splice site	probably benign
R0585:Osmr	UTSW	15	6,867,274 (GRCm39)	missense	probably benign
R0980:Osmr	UTSW	15	6,881,921 (GRCm39)	missense	probably benign	0.00
R1221:Osmr	UTSW	15	6,853,042 (GRCm39)	nonsense	probably null
R1922:Osmr	UTSW	15	6,873,848 (GRCm39)	missense	possibly damaging	0.67
R2067:Osmr	UTSW	15	6,844,896 (GRCm39)	missense	probably benign	0.00
R2136:Osmr	UTSW	15	6,881,943 (GRCm39)	missense	probably damaging	1.00
R2156:Osmr	UTSW	15	6,873,891 (GRCm39)	missense	probably benign	0.04
R3683:Osmr	UTSW	15	6,866,534 (GRCm39)	missense	possibly damaging	0.95
R3735:Osmr	UTSW	15	6,851,561 (GRCm39)	missense	probably damaging	1.00
R3736:Osmr	UTSW	15	6,851,561 (GRCm39)	missense	probably damaging	1.00
R4011:Osmr	UTSW	15	6,854,014 (GRCm39)	missense	probably benign	0.01
R4175:Osmr	UTSW	15	6,882,027 (GRCm39)	missense	probably damaging	1.00
R4555:Osmr	UTSW	15	6,845,201 (GRCm39)	missense	possibly damaging	0.73
R4581:Osmr	UTSW	15	6,872,375 (GRCm39)	missense	probably benign	0.00
R4751:Osmr	UTSW	15	6,872,333 (GRCm39)	missense	probably damaging	1.00
R4758:Osmr	UTSW	15	6,882,036 (GRCm39)	missense	probably benign	0.23
R4986:Osmr	UTSW	15	6,846,061 (GRCm39)	critical splice donor site	probably null
R4997:Osmr	UTSW	15	6,845,120 (GRCm39)	missense	probably benign	0.25
R5077:Osmr	UTSW	15	6,873,874 (GRCm39)	nonsense	probably null
R5093:Osmr	UTSW	15	6,850,560 (GRCm39)	missense	probably damaging	0.96
R5120:Osmr	UTSW	15	6,856,756 (GRCm39)	missense	probably benign	0.16
R5331:Osmr	UTSW	15	6,872,362 (GRCm39)	missense	probably damaging	1.00
R5812:Osmr	UTSW	15	6,866,540 (GRCm39)	missense	probably damaging	0.99
R5819:Osmr	UTSW	15	6,845,268 (GRCm39)	missense	probably benign	0.00
R5876:Osmr	UTSW	15	6,850,528 (GRCm39)	missense	probably benign	0.07
R5986:Osmr	UTSW	15	6,873,934 (GRCm39)	missense	probably benign	0.36
R6018:Osmr	UTSW	15	6,845,276 (GRCm39)	missense	probably damaging	1.00
R6164:Osmr	UTSW	15	6,889,833 (GRCm39)	missense	probably benign	0.00
R6217:Osmr	UTSW	15	6,853,047 (GRCm39)	missense	probably damaging	1.00
R6312:Osmr	UTSW	15	6,853,119 (GRCm39)	missense	probably damaging	1.00
R6349:Osmr	UTSW	15	6,850,544 (GRCm39)	missense	probably benign	0.00
R6898:Osmr	UTSW	15	6,845,364 (GRCm39)	missense	probably damaging	0.97
R7139:Osmr	UTSW	15	6,850,569 (GRCm39)	missense	possibly damaging	0.79
R7412:Osmr	UTSW	15	6,853,048 (GRCm39)	missense	probably damaging	1.00
R7527:Osmr	UTSW	15	6,856,603 (GRCm39)	missense	probably damaging	1.00
R7630:Osmr	UTSW	15	6,846,452 (GRCm39)	missense	possibly damaging	0.53
R7730:Osmr	UTSW	15	6,853,963 (GRCm39)	missense	probably damaging	1.00
R7990:Osmr	UTSW	15	6,881,948 (GRCm39)	missense	possibly damaging	0.87
R8094:Osmr	UTSW	15	6,845,102 (GRCm39)	missense	possibly damaging	0.64
R8187:Osmr	UTSW	15	6,850,485 (GRCm39)	missense	probably damaging	1.00
R8260:Osmr	UTSW	15	6,844,897 (GRCm39)	missense	probably benign	0.41
R8366:Osmr	UTSW	15	6,850,435 (GRCm39)	missense	possibly damaging	0.82
R9051:Osmr	UTSW	15	6,882,027 (GRCm39)	missense	probably damaging	1.00
R9137:Osmr	UTSW	15	6,856,709 (GRCm39)	missense	probably benign	0.13
R9182:Osmr	UTSW	15	6,850,569 (GRCm39)	missense	probably damaging	1.00
R9238:Osmr	UTSW	15	6,846,086 (GRCm39)	missense	possibly damaging	0.90
R9260:Osmr	UTSW	15	6,882,033 (GRCm39)	missense	probably benign
R9559:Osmr	UTSW	15	6,882,027 (GRCm39)	missense	probably damaging	1.00
RF040:Osmr	UTSW	15	6,867,182 (GRCm39)	small insertion	probably benign
RF055:Osmr	UTSW	15	6,867,181 (GRCm39)	small insertion	probably benign

Posted On

2015-04-16