Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03303:Osmr'

416280

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 #

IGL03303

Quality Score

Status

Chromosome

Chromosomal Location

6843049-6904434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6872289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 268 (R268S)

Ref Sequence

ENSEMBL: ENSMUSP00000135204 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022746
AA Change: R268S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: R268S

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 benign
Transcript: ENSMUST00000176826
AA Change: R268S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: R268S

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,644,122 (GRCm39)	V940E	probably damaging	Het
Agap1	T	A	1: 89,592,874 (GRCm39)	V307D	probably damaging	Het
Amd1	A	G	10: 40,166,121 (GRCm39)	V286A	possibly damaging	Het
Bltp1	A	G	3: 36,924,226 (GRCm39)	E17G	possibly damaging	Het
Chrne	T	C	11: 70,505,926 (GRCm39)	K453R	possibly damaging	Het
Ckm	T	A	7: 19,148,263 (GRCm39)		probably benign	Het
Ckmt1	A	G	2: 121,190,486 (GRCm39)	T138A	probably benign	Het
Cldn4	A	G	5: 134,975,103 (GRCm39)	V166A	possibly damaging	Het
Dclre1a	T	C	19: 56,535,198 (GRCm39)	T129A	possibly damaging	Het
Dlgap2	T	A	8: 14,777,812 (GRCm39)	D352E	probably damaging	Het
Dnmt1	A	G	9: 20,838,006 (GRCm39)	I236T	probably benign	Het
Enam	G	T	5: 88,652,450 (GRCm39)	V1320L	probably benign	Het
Ezh1	A	C	11: 101,086,497 (GRCm39)		probably null	Het
F13b	A	T	1: 139,440,774 (GRCm39)	D410V	possibly damaging	Het
Fcrl6	A	T	1: 172,425,255 (GRCm39)	Y259N	probably damaging	Het
Fpr-rs7	A	T	17: 20,334,001 (GRCm39)	F163Y	possibly damaging	Het
Gpihbp1	C	T	15: 75,469,827 (GRCm39)	Q181*	probably null	Het
Htr2b	T	C	1: 86,027,061 (GRCm39)		probably benign	Het
Igkv1-35	A	G	6: 69,988,635 (GRCm39)	I8T	probably benign	Het
Kcnq2	T	C	2: 180,724,182 (GRCm39)	T584A	probably benign	Het
Khdrbs3	A	G	15: 68,896,672 (GRCm39)	T111A	probably benign	Het
Krtap29-1	A	T	11: 99,869,669 (GRCm39)	C71S	probably benign	Het
Lrrc4c	A	T	2: 97,459,937 (GRCm39)	I188F	probably damaging	Het
Med1	G	T	11: 98,049,178 (GRCm39)	N539K	probably damaging	Het
Mga	T	A	2: 119,733,933 (GRCm39)	D260E	probably damaging	Het
Mnd1	A	G	3: 84,012,244 (GRCm39)	I155T	probably benign	Het
Msrb3	T	C	10: 120,620,046 (GRCm39)	D91G	probably benign	Het
Mycbp2	A	T	14: 103,485,194 (GRCm39)	D1102E	probably damaging	Het
Nfx1	T	A	4: 41,004,323 (GRCm39)		probably benign	Het
Nrsn2	T	C	2: 152,216,131 (GRCm39)	D24G	possibly damaging	Het
Or4c127	A	T	2: 89,832,810 (GRCm39)	K20I	possibly damaging	Het
Pelo	C	A	13: 115,225,197 (GRCm39)	V343L	probably damaging	Het
Rp1	T	A	1: 4,415,040 (GRCm39)	N2024I	probably damaging	Het
Rps6ka2	C	T	17: 7,495,411 (GRCm39)	Q33*	probably null	Het
Slfn2	G	A	11: 82,960,293 (GRCm39)	V91I	possibly damaging	Het
Socs6	G	T	18: 88,887,868 (GRCm39)	A349E	probably damaging	Het
Syt2	A	G	1: 134,669,649 (GRCm39)	N97D	probably benign	Het
Tas2r123	T	A	6: 132,824,401 (GRCm39)	H99Q	probably damaging	Het
Tmc3	A	G	7: 83,239,933 (GRCm39)		probably benign	Het
Ube2s	A	T	7: 4,813,476 (GRCm39)	V35D	probably damaging	Het
Usp32	A	T	11: 84,913,658 (GRCm39)	V891D	probably damaging	Het
Vmn1r169	A	T	7: 23,277,434 (GRCm39)	E275D	probably benign	Het
Vps13c	A	G	9: 67,841,786 (GRCm39)	H1936R	probably benign	Het
Wrap73	C	A	4: 154,231,000 (GRCm39)	A92E	probably damaging	Het
Zfhx4	C	T	3: 5,468,410 (GRCm39)	T2856M	probably damaging	Het
Zmym1	A	T	4: 126,942,927 (GRCm39)	I487N	probably 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
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
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

2016-08-02