Incidental Mutation 'R4997:Osmr'
ID 385379
Institutional Source Beutler Lab
Gene Symbol Osmr
Ensembl Gene ENSMUSG00000022146
Gene Name oncostatin M receptor
Synonyms OSMRB
MMRRC Submission 042591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4997 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 6843049-6904434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6845120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 882 (P882Q)
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: P883Q

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: P883Q

DomainStartEndE-ValueType
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: P882Q

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: P882Q

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik A T 14: 33,775,623 (GRCm39) M1L probably benign Het
Abca7 C A 10: 79,843,154 (GRCm39) Q1210K possibly damaging Het
Abcc4 C T 14: 118,753,915 (GRCm39) W1024* probably null Het
Accs A T 2: 93,672,228 (GRCm39) Y213* probably null Het
Adam6a G T 12: 113,508,991 (GRCm39) G455C probably damaging Het
Adcy1 A C 11: 7,111,298 (GRCm39) Y863S probably benign Het
Adgrg1 A G 8: 95,736,148 (GRCm39) D434G probably damaging Het
Afap1l1 C T 18: 61,884,879 (GRCm39) R202Q probably benign Het
Aldh3a1 T C 11: 61,103,137 (GRCm39) V27A probably benign Het
Antxr2 A G 5: 98,125,553 (GRCm39) F235L probably benign Het
Arhgap23 T A 11: 97,342,846 (GRCm39) V376E probably damaging Het
Brca1 A C 11: 101,415,159 (GRCm39) S992A probably damaging Het
Brcc3dc A G 10: 108,535,649 (GRCm39) I102T probably benign Het
Calcrl A T 2: 84,181,592 (GRCm39) C185* probably null Het
Cep152 T C 2: 125,428,271 (GRCm39) T787A probably benign Het
Coch T A 12: 51,649,964 (GRCm39) probably null Het
Col5a1 T A 2: 27,922,794 (GRCm39) Y287* probably null Het
Dis3l A G 9: 64,219,224 (GRCm39) S569P possibly damaging Het
Dnai1 A G 4: 41,597,919 (GRCm39) I74V possibly damaging Het
Dpy19l4 A G 4: 11,287,493 (GRCm39) V394A probably benign Het
Egfem1 A G 3: 29,207,739 (GRCm39) H122R probably benign Het
Endou A G 15: 97,617,458 (GRCm39) L164P probably damaging Het
Epgn A G 5: 91,180,098 (GRCm39) E80G possibly damaging Het
Fcgbpl1 T G 7: 27,843,349 (GRCm39) S746A possibly damaging Het
Fitm1 T C 14: 55,814,364 (GRCm39) S287P probably benign Het
Foxm1 A G 6: 128,342,731 (GRCm39) N22D probably benign Het
Gsdmc A T 15: 63,648,629 (GRCm39) M426K probably damaging Het
Hmcn2 T A 2: 31,291,720 (GRCm39) V2418D probably damaging Het
Hs3st2 T A 7: 121,099,679 (GRCm39) L175Q possibly damaging Het
Il1r2 T C 1: 40,160,206 (GRCm39) probably null Het
Il27ra A T 8: 84,766,156 (GRCm39) Y209* probably null Het
Inpp5a A T 7: 138,980,654 (GRCm39) S31C probably benign Het
Invs A G 4: 48,396,332 (GRCm39) D335G probably damaging Het
Isg15 C T 4: 156,284,154 (GRCm39) E125K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama4 C A 10: 38,968,262 (GRCm39) T1468K probably damaging Het
Lce1a2 A G 3: 92,576,395 (GRCm39) S56P unknown Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lmf1 G A 17: 25,807,650 (GRCm39) W164* probably null Het
Mad2l1bp G T 17: 46,463,804 (GRCm39) C73* probably null Het
Mpzl1 A C 1: 165,429,350 (GRCm39) V230G probably damaging Het
Myo3b A G 2: 70,088,427 (GRCm39) T869A possibly damaging Het
Ncor2 T C 5: 125,111,074 (GRCm39) H1316R probably damaging Het
Nlrp1b T A 11: 71,109,160 (GRCm39) I114F probably damaging Het
Nsun7 A G 5: 66,453,182 (GRCm39) I632M probably benign Het
Nubp1 T C 16: 10,239,185 (GRCm39) I234T probably benign Het
Olfml1 A G 7: 107,170,413 (GRCm39) D100G probably damaging Het
Or1e1b-ps1 T A 11: 73,845,612 (GRCm39) L32Q probably damaging Het
Or5p73 C A 7: 108,064,701 (GRCm39) Q57K probably benign Het
Or7g23 A T 9: 19,086,627 (GRCm39) L115Q probably damaging Het
Peg10 TCAGGATCC TCAGGATCCCCAGCAGGATCC 6: 4,756,457 (GRCm39) probably benign Het
Per2 T A 1: 91,378,505 (GRCm39) T15S probably benign Het
Piezo2 A G 18: 63,216,184 (GRCm39) Y1184H probably damaging Het
Pik3c2b C T 1: 133,032,819 (GRCm39) A1560V probably damaging Het
Pik3cd A C 4: 149,743,441 (GRCm39) L256R probably damaging Het
Ppl C A 16: 4,907,235 (GRCm39) R1020L probably damaging Het
Ppp1r10 A G 17: 36,234,976 (GRCm39) N60S probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prkci T C 3: 31,085,375 (GRCm39) probably null Het
Prrc2b A G 2: 32,112,323 (GRCm39) Y1929C probably damaging Het
Prss12 T C 3: 123,240,857 (GRCm39) V17A probably benign Het
Qtrt1 A G 9: 21,328,654 (GRCm39) N206S probably benign Het
Rad54l2 A C 9: 106,600,108 (GRCm39) S50A possibly damaging Het
Rhov C T 2: 119,100,949 (GRCm39) R96H probably damaging Het
Rph3a A T 5: 121,101,906 (GRCm39) V110E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A T 13: 11,610,192 (GRCm39) N646K probably benign Het
Scn8a A G 15: 100,854,935 (GRCm39) T141A probably damaging Het
Serping1 T C 2: 84,600,629 (GRCm39) R238G possibly damaging Het
Shank3 T A 15: 89,433,901 (GRCm39) W1474R probably damaging Het
Slc16a12 T A 19: 34,652,358 (GRCm39) M263L probably benign Het
Spata13 T C 14: 60,946,908 (GRCm39) V652A probably damaging Het
Spata31 G A 13: 65,067,537 (GRCm39) M66I probably benign Het
Spem2 T C 11: 69,708,558 (GRCm39) I136V probably benign Het
Supt5 T C 7: 28,015,462 (GRCm39) H925R probably benign Het
Syk A T 13: 52,766,484 (GRCm39) K190* probably null Het
Thsd1 T A 8: 22,733,340 (GRCm39) V129D probably damaging Het
Tiprl A G 1: 165,047,759 (GRCm39) V174A possibly damaging Het
Tmed4 T A 11: 6,224,500 (GRCm39) probably null Het
Tnfrsf19 T C 14: 61,208,658 (GRCm39) T288A probably benign Het
Tnfrsf25 T C 4: 152,202,153 (GRCm39) probably null Het
Tpd52 A G 3: 9,000,056 (GRCm39) L121S probably damaging Het
Trim30a T A 7: 104,060,827 (GRCm39) K316N probably benign Het
Ttc3 T G 16: 94,253,841 (GRCm39) D1221E probably damaging Het
Ttn C T 2: 76,714,403 (GRCm39) probably benign Het
Ttn T C 2: 76,776,615 (GRCm39) I1514V probably benign Het
Ulk2 T C 11: 61,689,982 (GRCm39) T671A probably benign Het
Wasf1 C T 10: 40,810,600 (GRCm39) P281S probably damaging Het
Wnt10b C A 15: 98,672,084 (GRCm39) R211L probably damaging Het
Xpnpep3 T A 15: 81,332,577 (GRCm39) C371* probably null Het
Zfp41 C T 15: 75,490,617 (GRCm39) probably benign Het
Zfp553 T A 7: 126,834,683 (GRCm39) N79K probably benign Het
Zmynd8 G T 2: 165,634,736 (GRCm39) D1096E probably benign Het
Other mutations in Osmr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCCCGGGAACTACCATTTGC -3'
(R):5'- ACACAGTGTGTAGGCTCTGG -3'

Sequencing Primer
(F):5'- GGGAACTACCATTTGCCTTTTATAC -3'
(R):5'- AGGCTCTGGGAAACTTCACATTG -3'
Posted On 2016-05-10