Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02357:Osmr'

290561

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Osmr

Ensembl Gene

ENSMUSG00000022146

Gene Name

oncostatin M receptor

Synonyms

OSMRB

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

6813577-6874969 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6828663 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 441 (N441K)

Ref Sequence

ENSEMBL: ENSMUSP00000135204 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022746
AA Change: N441K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: N441K

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: N441K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: N441K

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Casp9	C	A	4: 141,805,472	D226E	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,675,759	D245G	probably benign	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Osmr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Osmr	APN	15	6844445	nonsense	probably null
IGL00335:Osmr	APN	15	6837023	missense	probably benign	0.00
IGL00497:Osmr	APN	15	6847066	missense	probably benign	0.26
IGL00510:Osmr	APN	15	6823631	nonsense	probably null
IGL00811:Osmr	APN	15	6815666	missense	probably benign	0.28
IGL00959:Osmr	APN	15	6824605	missense	probably benign	0.12
IGL01115:Osmr	APN	15	6847201	splice site	probably benign
IGL01307:Osmr	APN	15	6844427	missense	probably damaging	1.00
IGL01330:Osmr	APN	15	6842028	missense	probably damaging	1.00
IGL01633:Osmr	APN	15	6824604	missense	probably damaging	1.00
IGL01780:Osmr	APN	15	6828663	missense	probably benign	0.00
IGL02164:Osmr	APN	15	6842048	missense	probably damaging	0.99
IGL02207:Osmr	APN	15	6847147	missense	probably benign	0.07
IGL02338:Osmr	APN	15	6837729	nonsense	probably null
IGL02350:Osmr	APN	15	6828663	missense	probably benign	0.00
IGL02545:Osmr	APN	15	6823579	missense	probably damaging	0.98
IGL02619:Osmr	APN	15	6841994	missense	probably damaging	1.00
IGL02685:Osmr	APN	15	6815573	missense	probably benign	0.00
IGL02959:Osmr	APN	15	6815897	missense	possibly damaging	0.93
IGL03303:Osmr	APN	15	6842808	missense	probably benign	0.03
FR4548:Osmr	UTSW	15	6837703	small insertion	probably benign
FR4737:Osmr	UTSW	15	6837706	nonsense	probably null
R0149:Osmr	UTSW	15	6841951	critical splice donor site	probably null
R0361:Osmr	UTSW	15	6841951	critical splice donor site	probably null
R0492:Osmr	UTSW	15	6824518	missense	probably damaging	1.00
R0538:Osmr	UTSW	15	6841938	splice site	probably benign
R0585:Osmr	UTSW	15	6837793	missense	probably benign
R0980:Osmr	UTSW	15	6852440	missense	probably benign	0.00
R1221:Osmr	UTSW	15	6823561	nonsense	probably null
R1922:Osmr	UTSW	15	6844367	missense	possibly damaging	0.67
R2067:Osmr	UTSW	15	6815415	missense	probably benign	0.00
R2136:Osmr	UTSW	15	6852462	missense	probably damaging	1.00
R2156:Osmr	UTSW	15	6844410	missense	probably benign	0.04
R3683:Osmr	UTSW	15	6837053	missense	possibly damaging	0.95
R3735:Osmr	UTSW	15	6822080	missense	probably damaging	1.00
R3736:Osmr	UTSW	15	6822080	missense	probably damaging	1.00
R4011:Osmr	UTSW	15	6824533	missense	probably benign	0.01
R4175:Osmr	UTSW	15	6852546	missense	probably damaging	1.00
R4555:Osmr	UTSW	15	6815720	missense	possibly damaging	0.73
R4581:Osmr	UTSW	15	6842894	missense	probably benign	0.00
R4751:Osmr	UTSW	15	6842852	missense	probably damaging	1.00
R4758:Osmr	UTSW	15	6852555	missense	probably benign	0.23
R4986:Osmr	UTSW	15	6816580	critical splice donor site	probably null
R4997:Osmr	UTSW	15	6815639	missense	probably benign	0.25
R5077:Osmr	UTSW	15	6844393	nonsense	probably null
R5093:Osmr	UTSW	15	6821079	missense	probably damaging	0.96
R5120:Osmr	UTSW	15	6827275	missense	probably benign	0.16
R5331:Osmr	UTSW	15	6842881	missense	probably damaging	1.00
R5812:Osmr	UTSW	15	6837059	missense	probably damaging	0.99
R5819:Osmr	UTSW	15	6815787	missense	probably benign	0.00
R5876:Osmr	UTSW	15	6821047	missense	probably benign	0.07
R5986:Osmr	UTSW	15	6844453	missense	probably benign	0.36
R6018:Osmr	UTSW	15	6815795	missense	probably damaging	1.00
R6164:Osmr	UTSW	15	6860352	missense	probably benign	0.00
R6217:Osmr	UTSW	15	6823566	missense	probably damaging	1.00
R6312:Osmr	UTSW	15	6823638	missense	probably damaging	1.00
R6349:Osmr	UTSW	15	6821063	missense	probably benign	0.00
R6898:Osmr	UTSW	15	6815883	missense	probably damaging	0.97
R7139:Osmr	UTSW	15	6821088	missense	possibly damaging	0.79
R7412:Osmr	UTSW	15	6823567	missense	probably damaging	1.00
R7527:Osmr	UTSW	15	6827122	missense	probably damaging	1.00
R7630:Osmr	UTSW	15	6816971	missense	possibly damaging	0.53
R7730:Osmr	UTSW	15	6824482	missense	probably damaging	1.00
RF040:Osmr	UTSW	15	6837701	small insertion	probably benign
RF055:Osmr	UTSW	15	6837700	small insertion	probably benign

Posted On

2015-04-16