Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01330:Osmr'

74487

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 #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

6843049-6904434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6871509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 303 (Y303H)

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: Y303H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: Y303H

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: ENSMUST00000175862

Predicted Effect

probably damaging
Transcript: ENSMUST00000176826
AA Change: Y303H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: Y303H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177478

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,898,351 (GRCm39)	E245G	possibly damaging	Het
Acap2	T	C	16: 30,973,495 (GRCm39)	I43V	probably damaging	Het
Acot11	T	C	4: 106,628,681 (GRCm39)	T36A	probably benign	Het
Bsn	A	G	9: 107,988,112 (GRCm39)		probably benign	Het
Capza2	T	C	6: 17,654,170 (GRCm39)		probably null	Het
Cerkl	A	G	2: 79,199,125 (GRCm39)	I155T	possibly damaging	Het
Dclre1b	T	C	3: 103,710,442 (GRCm39)	T490A	probably benign	Het
Efcab6	G	A	15: 83,928,501 (GRCm39)	S31L	probably benign	Het
Faim	T	A	9: 98,874,588 (GRCm39)	M67K	probably damaging	Het
Frem2	T	G	3: 53,562,662 (GRCm39)	Q615P	possibly damaging	Het
Fut9	A	G	4: 25,619,791 (GRCm39)	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375 (GRCm39)	F142L	probably benign	Het
Kif14	T	C	1: 136,404,112 (GRCm39)	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,627,867 (GRCm39)	L55*	probably null	Het
Kmt2e	C	A	5: 23,702,946 (GRCm39)	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,684,320 (GRCm39)	I114N	probably damaging	Het
Mtap	C	A	4: 89,089,460 (GRCm39)	T148K	probably damaging	Het
Muc16	G	A	9: 18,419,803 (GRCm39)	A8347V	possibly damaging	Het
Nhs	A	T	X: 160,624,449 (GRCm39)	S967T	probably damaging	Het
Npas3	A	G	12: 54,095,602 (GRCm39)	Y344C	probably damaging	Het
Or51q1	A	T	7: 103,629,349 (GRCm39)		probably benign	Het
Or5an9	T	C	19: 12,187,404 (GRCm39)	V158A	possibly damaging	Het
Or8b12c	T	A	9: 37,715,516 (GRCm39)	F103Y	probably damaging	Het
Pcdhb8	A	T	18: 37,490,631 (GRCm39)	I770F	probably benign	Het
Pde4a	C	T	9: 21,103,734 (GRCm39)		probably benign	Het
Prkacb	T	G	3: 146,457,266 (GRCm39)	N79T	probably damaging	Het
Psd3	A	C	8: 68,149,830 (GRCm39)	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,810,538 (GRCm39)	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,530,042 (GRCm39)	D912E	probably damaging	Het
Sgsm3	T	A	15: 80,895,053 (GRCm39)		probably benign	Het
Shcbp1	T	C	8: 4,786,372 (GRCm39)	T577A	probably benign	Het
Siglec1	A	T	2: 130,925,456 (GRCm39)	V335D	probably damaging	Het
Siglec1	A	T	2: 130,916,925 (GRCm39)	L1110*	probably null	Het
Slc4a11	A	G	2: 130,529,602 (GRCm39)	I335T	probably benign	Het
Smchd1	A	C	17: 71,743,783 (GRCm39)	S461A	probably benign	Het
Spata16	C	T	3: 26,968,864 (GRCm39)	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,204,459 (GRCm39)	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,237,525 (GRCm39)	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,953,542 (GRCm39)	S569P	probably benign	Het
Vps13c	T	A	9: 67,871,390 (GRCm39)	V3220E	probably damaging	Het
Wdr59	T	C	8: 112,208,565 (GRCm39)	N439S	possibly damaging	Het
Zfp568	A	G	7: 29,721,702 (GRCm39)	M215V	probably benign	Het
Zgrf1	T	A	3: 127,377,656 (GRCm39)	V967E	probably damaging	Het
Zkscan16	A	G	4: 58,956,483 (GRCm39)	D255G	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
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
IGL02545:Osmr	APN	15	6,853,060 (GRCm39)	missense	probably damaging	0.98
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

2013-10-07