Incidental Mutation 'IGL02685:Osmr'
ID 303506
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 # IGL02685
Quality Score
Status
Chromosome 15
Chromosomal Location 6843049-6904434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6845054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 904 (E904G)
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: E905G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: E905G

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 probably benign
Transcript: ENSMUST00000176826
AA Change: E904G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: E904G

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,869,682 (GRCm39) Y779C probably damaging Het
Acad10 A G 5: 121,770,672 (GRCm39) F532L probably benign Het
Adgrb3 A T 1: 25,123,323 (GRCm39) probably null Het
Akr1d1 T C 6: 37,507,278 (GRCm39) probably benign Het
Aqp11 A G 7: 97,386,759 (GRCm39) Y146H probably damaging Het
Cdh2 A T 18: 16,779,557 (GRCm39) L168Q probably damaging Het
Ces2f C T 8: 105,679,730 (GRCm39) Q277* probably null Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Col22a1 A G 15: 71,673,764 (GRCm39) V984A unknown Het
Col5a3 T C 9: 20,683,501 (GRCm39) D1557G unknown Het
Cpb1 A T 3: 20,319,520 (GRCm39) V188E probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ephb1 G T 9: 101,918,302 (GRCm39) Y402* probably null Het
Foxm1 T C 6: 128,350,070 (GRCm39) L319S possibly damaging Het
Gmppb T C 9: 107,927,118 (GRCm39) probably benign Het
Grid2 T G 6: 64,322,800 (GRCm39) M600R possibly damaging Het
Gstm6 T C 3: 107,848,507 (GRCm39) K57E probably benign Het
Hars2 T G 18: 36,924,171 (GRCm39) S422A probably benign Het
Igdcc4 T C 9: 65,041,107 (GRCm39) M1092T possibly damaging Het
Ighv13-1 C A 12: 114,231,403 (GRCm39) probably benign Het
Iqgap2 C A 13: 95,807,912 (GRCm39) R785L probably damaging Het
Kalrn G A 16: 34,334,329 (GRCm39) Q8* probably null Het
Mms22l A G 4: 24,591,133 (GRCm39) T1035A probably benign Het
Myo1b A G 1: 51,817,658 (GRCm39) Y535H probably damaging Het
Neb T A 2: 52,065,313 (GRCm39) K6234N possibly damaging Het
Nlrp9c A G 7: 26,084,982 (GRCm39) I199T probably damaging Het
Or10ak7 A T 4: 118,791,134 (GRCm39) F304I possibly damaging Het
Or4c108 T A 2: 88,803,365 (GRCm39) N290I possibly damaging Het
Or52h9 C A 7: 104,202,357 (GRCm39) T77K probably benign Het
Or7g32 T C 9: 19,408,098 (GRCm39) I18T probably benign Het
Pde8b T C 13: 95,162,628 (GRCm39) *831W probably null Het
Prkdc T C 16: 15,653,907 (GRCm39) V3888A possibly damaging Het
Scn9a C A 2: 66,367,637 (GRCm39) S693I probably damaging Het
Sepsecs T C 5: 52,804,534 (GRCm39) T379A probably benign Het
Ska1 T A 18: 74,330,119 (GRCm39) H207L probably benign Het
Slc17a9 C A 2: 180,375,602 (GRCm39) Q175K probably damaging Het
Slc38a2 G A 15: 96,589,306 (GRCm39) T396I probably benign Het
Slc9a4 A C 1: 40,668,742 (GRCm39) H795P probably benign Het
Sorbs2 C T 8: 46,256,877 (GRCm39) T955I probably benign Het
Spata4 A T 8: 55,053,963 (GRCm39) H43L probably benign Het
Ss18l2 G A 9: 121,539,484 (GRCm39) A6T possibly damaging Het
Sult1e1 C T 5: 87,727,765 (GRCm39) W172* probably null Het
Tlcd1 T C 11: 78,070,363 (GRCm39) probably benign Het
Tmc8 T C 11: 117,683,400 (GRCm39) S652P probably damaging Het
Vps37b T C 5: 124,148,874 (GRCm39) S54G probably damaging Het
Wdr26 A T 1: 181,011,345 (GRCm39) S511T possibly damaging Het
Zfhx4 A G 3: 5,477,213 (GRCm39) Y3251C probably damaging 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
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 2015-04-16