Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00959:Osmr'

29086

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 #

IGL00959

Quality Score

Status

Chromosome

Chromosomal Location

6843049-6904434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6854086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 541 (I541V)

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: I542V

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: I542V

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 benign
Transcript: ENSMUST00000176826
AA Change: I541V

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: I541V

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	A	T	11: 69,057,069 (GRCm39)	H430L	probably damaging	Het
Aox4	G	T	1: 58,278,333 (GRCm39)	V443F	probably damaging	Het
Bmpr2	A	T	1: 59,854,474 (GRCm39)	I108F	possibly damaging	Het
Cflar	G	A	1: 58,768,321 (GRCm39)		probably null	Het
Chchd3	A	G	6: 32,945,188 (GRCm39)	V106A	probably benign	Het
Chl1	G	T	6: 103,686,211 (GRCm39)		probably null	Het
Clvs2	C	T	10: 33,404,459 (GRCm39)	M252I	probably benign	Het
Cntnap5a	T	A	1: 116,112,057 (GRCm39)	L449Q	probably benign	Het
Col6a2	T	A	10: 76,450,368 (GRCm39)	I188F	probably damaging	Het
Cyp2c55	A	G	19: 39,026,587 (GRCm39)	D398G	probably benign	Het
Dennd1b	T	C	1: 139,071,626 (GRCm39)		probably benign	Het
Dop1a	T	A	9: 86,369,484 (GRCm39)	Y106N	probably damaging	Het
Dpy19l1	A	T	9: 24,334,493 (GRCm39)		probably null	Het
Extl3	C	T	14: 65,314,361 (GRCm39)	V274I	probably benign	Het
Fras1	G	A	5: 96,929,140 (GRCm39)	R3848H	probably damaging	Het
Gm11437	A	C	11: 84,039,448 (GRCm39)		probably benign	Het
Gss	T	A	2: 155,423,871 (GRCm39)	D2V	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ilvbl	G	A	10: 78,419,739 (GRCm39)	D548N	probably damaging	Het
Jmjd6	A	T	11: 116,733,202 (GRCm39)	D115E	possibly damaging	Het
Kidins220	T	A	12: 25,101,132 (GRCm39)	S1110R	possibly damaging	Het
Kmt2c	T	A	5: 25,481,227 (GRCm39)	I4784F	probably damaging	Het
Mrpl52	T	C	14: 54,664,494 (GRCm39)	V11A	possibly damaging	Het
Myo3b	A	G	2: 70,144,636 (GRCm39)	Y1036C	probably damaging	Het
Omp	T	C	7: 97,794,357 (GRCm39)	D90G	probably damaging	Het
Or6c2b	T	A	10: 128,947,893 (GRCm39)	M134L	probably benign	Het
Ppp2r1a	A	T	17: 21,181,840 (GRCm39)		probably benign	Het
Ptpn13	T	A	5: 103,665,437 (GRCm39)		probably null	Het
Rock2	C	A	12: 17,028,056 (GRCm39)	N1429K	probably benign	Het
Saxo4	A	T	19: 10,454,887 (GRCm39)		probably null	Het
Slc25a20	T	G	9: 108,559,198 (GRCm39)	M188R	possibly damaging	Het
Slc28a1	T	C	7: 80,818,816 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,988,634 (GRCm39)	Y42C	probably damaging	Het
Tgfb2	A	G	1: 186,436,784 (GRCm39)	V63A	probably benign	Het
Ugt2b38	A	T	5: 87,559,682 (GRCm39)	N403K	probably damaging	Het
Vmn2r29	A	G	7: 7,244,855 (GRCm39)	W340R	probably benign	Het
Wnt5a	C	T	14: 28,244,866 (GRCm39)	T351M	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
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
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

2013-04-17