Mutagenetix > Incidental Mutation

Incidental Mutation 'R3683:Osmr'

269444

Institutional Source

Beutler Lab

Gene Symbol

Osmr

Ensembl Gene

ENSMUSG00000022146

Gene Name

oncostatin M receptor

Synonyms

OSMRB

MMRRC Submission

040681-MU

Accession Numbers

Essential gene?

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

Stock #

R3683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6843049-6904434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 6866534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 380 (V380G)

Ref Sequence

ENSEMBL: ENSMUSP00000135204 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022746
AA Change: V380G

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: V380G

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

possibly damaging
Transcript: ENSMUST00000176826
AA Change: V380G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: V380G

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 80,463,841 (GRCm39)	D622G	possibly damaging	Het
Acad11	T	C	9: 103,992,543 (GRCm39)	I495T	probably damaging	Het
Acat1	C	T	9: 53,498,765 (GRCm39)	A307T	probably damaging	Het
Ahdc1	T	C	4: 132,793,013 (GRCm39)	L1418P	possibly damaging	Het
Bmp2	T	A	2: 133,396,392 (GRCm39)	V16D	probably benign	Het
Cables2	G	A	2: 179,906,263 (GRCm39)	R121*	probably null	Het
Calb2	A	G	8: 110,883,620 (GRCm39)	Y35H	probably benign	Het
Cdon	A	G	9: 35,400,328 (GRCm39)	E1014G	possibly damaging	Het
Clcn7	T	C	17: 25,369,567 (GRCm39)	L301P	possibly damaging	Het
Corin	T	C	5: 72,488,198 (GRCm39)	D610G	probably damaging	Het
Csrnp2	A	T	15: 100,379,879 (GRCm39)	S471T	probably benign	Het
Dnah7a	C	A	1: 53,483,675 (GRCm39)	M3367I	probably benign	Het
Elp4	A	T	2: 105,533,106 (GRCm39)	M413K	possibly damaging	Het
Fat1	A	G	8: 45,470,975 (GRCm39)	D1593G	probably benign	Het
Fbxw24	G	A	9: 109,437,110 (GRCm39)	P259L	possibly damaging	Het
Ggta1	T	A	2: 35,298,000 (GRCm39)	T162S	probably benign	Het
Gldn	G	A	9: 54,245,624 (GRCm39)	E392K	possibly damaging	Het
Klra9	T	C	6: 130,168,260 (GRCm39)	N2S	probably benign	Het
Lama1	A	G	17: 68,075,328 (GRCm39)	D1015G	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Nrxn1	T	C	17: 90,930,880 (GRCm39)	D779G	probably damaging	Het
Or2d3c	G	A	7: 106,526,301 (GRCm39)	R122*	probably null	Het
Or4a73	C	A	2: 89,421,099 (GRCm39)	R120L	probably damaging	Het
Or4c118	A	T	2: 88,975,364 (GRCm39)	M1K	probably null	Het
Or5d37	T	A	2: 87,923,603 (GRCm39)	I226F	probably damaging	Het
Phf21b	A	G	15: 84,682,891 (GRCm39)	I222T	probably damaging	Het
Ptprq	G	T	10: 107,544,489 (GRCm39)	T347K	probably benign	Het
Sema6d	G	T	2: 124,496,146 (GRCm39)	L63F	possibly damaging	Het
Serpinb9b	C	T	13: 33,213,581 (GRCm39)	A46V	probably damaging	Het
Sf3b3	A	G	8: 111,540,253 (GRCm39)		probably null	Het
Smpd1	T	A	7: 105,204,609 (GRCm39)	C163S	probably damaging	Het
Stat4	C	T	1: 52,052,981 (GRCm39)	T54I	possibly damaging	Het
Tacc2	A	G	7: 130,226,800 (GRCm39)	S1162G	probably benign	Het
Tbc1d20	C	T	2: 152,153,737 (GRCm39)	T354I	probably benign	Het
Tbc1d31	T	C	15: 57,815,210 (GRCm39)		probably null	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Unc79	T	A	12: 103,041,062 (GRCm39)	N698K	probably benign	Het
Utrn	A	G	10: 12,542,579 (GRCm39)	M1802T	probably benign	Het
Vmn1r8	A	C	6: 57,013,260 (GRCm39)	T104P	probably damaging	Het
Vmn2r13	C	A	5: 109,304,721 (GRCm39)	R570I	probably damaging	Het
Zfand6	G	A	7: 84,283,570 (GRCm39)	P11S	probably damaging	Het
Zfp1005	A	G	2: 150,109,976 (GRCm39)	K222R	probably benign	Het
Zmpste24	A	G	4: 120,918,288 (GRCm39)	F445L	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAAAGTCATCCCATATTCTTTGGC -3'
(R):5'- TAGTGGGTCCTGCAATTGATC -3'

Sequencing Primer
(F):5'- TGGCTTACACCATGATATCAATACC -3'
(R):5'- CCTGCAATTGATCTAAATATTTGGC -3'

Posted On

2015-02-19