Mutagenetix > Incidental Mutation

Incidental Mutation 'R7630:Osmr'

589609

Institutional Source

Beutler Lab

Gene Symbol

Osmr

Ensembl Gene

ENSMUSG00000022146

Gene Name

oncostatin M receptor

Synonyms

OSMRB

MMRRC Submission

045691-MU

Accession Numbers

Essential gene?

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

Stock #

R7630 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6843049-6904434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6846452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 741 (I741V)

Ref Sequence

ENSEMBL: ENSMUSP00000022746 (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: I741V

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: I741V

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

possibly damaging
Transcript: ENSMUST00000176826
AA Change: I740V

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: I740V

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

Meta Mutation Damage Score

0.1945

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (40/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Agbl1	A	T	7: 76,535,904 (GRCm39)	I1019F	unknown	Het
Arhgap15	A	G	2: 43,670,648 (GRCm39)	T11A	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atg2b	T	C	12: 105,613,213 (GRCm39)		probably null	Het
Aup1	C	A	6: 83,031,904 (GRCm39)	D50E	unknown	Het
Ccl25	A	G	8: 4,403,955 (GRCm39)	Y49C	probably damaging	Het
Cnga3	A	G	1: 37,297,127 (GRCm39)	D148G	probably damaging	Het
Cpeb3	A	T	19: 37,031,693 (GRCm39)	F570I	probably damaging	Het
Cyp3a16	T	A	5: 145,373,120 (GRCm39)		probably null	Het
Eif2d	C	T	1: 131,082,103 (GRCm39)	T65M	probably benign	Het
Fryl	T	C	5: 73,267,588 (GRCm39)	I426V	possibly damaging	Het
Hgf	T	C	5: 16,803,248 (GRCm39)	S387P	probably benign	Het
Hyal6	T	C	6: 24,734,583 (GRCm39)	V172A	probably damaging	Het
Il10ra	T	C	9: 45,167,369 (GRCm39)	D396G	probably damaging	Het
Kif26a	A	G	12: 112,142,131 (GRCm39)	D795G	probably damaging	Het
Lrrc8c	T	A	5: 105,755,568 (GRCm39)	S448T	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Notch2	A	G	3: 98,044,824 (GRCm39)	D1582G	possibly damaging	Het
Or14c42-ps1	T	C	7: 86,211,680 (GRCm39)	S247P	probably damaging	Het
Or1l4b	A	C	2: 37,036,371 (GRCm39)	D49A	probably damaging	Het
Plec	C	T	15: 76,074,816 (GRCm39)		probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prkn	A	G	17: 11,456,455 (GRCm39)	E93G	probably benign	Het
Rexo4	A	T	2: 26,850,622 (GRCm39)	F247I	probably damaging	Het
Rph3a	T	C	5: 121,081,113 (GRCm39)	D628G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rxylt1	T	C	10: 121,931,865 (GRCm39)	I103V	possibly damaging	Het
Scnn1g	T	C	7: 121,359,704 (GRCm39)	S396P	probably damaging	Het
Slc1a5	G	A	7: 16,529,732 (GRCm39)	V384M	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Synpo2	A	G	3: 122,873,681 (GRCm39)	V1154A	probably damaging	Het
Tanc2	T	C	11: 105,667,734 (GRCm39)	V105A	probably benign	Het
Tapbp	T	C	17: 34,139,318 (GRCm39)	S105P	probably benign	Het
Tmem79	T	C	3: 88,240,768 (GRCm39)	E60G	possibly damaging	Het
Txnrd2	A	G	16: 18,257,140 (GRCm39)	D152G	possibly damaging	Het
Vcl	T	A	14: 21,033,470 (GRCm39)	L142*	probably null	Het
Vmn2r58	T	C	7: 41,513,611 (GRCm39)	Y344C	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,044,909 (GRCm39)	D442G	probably benign	Het
Xpo6	A	T	7: 125,739,561 (GRCm39)		probably null	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
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
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'- GATTGCATATGCTCACCTCCG -3'
(R):5'- TAAGTTCCACCCAGTTAAGTTTCTC -3'

Sequencing Primer
(F):5'- ATATGCTCACCTCCGTACCTTTG -3'
(R):5'- CCACCCAGTTAAGTTTCTCTAAATC -3'

Posted On

2019-10-24