Incidental Mutation 'IGL02619:Osmr'
ID300789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osmr
Ensembl Gene ENSMUSG00000022146
Gene Nameoncostatin M receptor
SynonymsOSMRB
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02619
Quality Score
Status
Chromosome15
Chromosomal Location6813577-6874969 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 6841994 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Methionine at position 314 (R314M)
Ref Sequence ENSEMBL: ENSMUSP00000135204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022746] [ENSMUST00000176826]
Predicted Effect probably damaging
Transcript: ENSMUST00000022746
AA Change: R314M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: R314M

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: ENSMUST00000175862
Predicted Effect probably damaging
Transcript: ENSMUST00000176826
AA Change: R314M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: R314M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177478
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C T 1: 179,792,451 G220E possibly damaging Het
Arhgef10l A G 4: 140,594,193 I101T probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Camkk2 A T 5: 122,764,235 C4S probably damaging Het
Ccdc174 T A 6: 91,899,557 D458E possibly damaging Het
Cercam A G 2: 29,880,674 N419S probably benign Het
Clca3a2 T C 3: 144,806,322 N551S probably damaging Het
Cldn18 T A 9: 99,698,935 I87F probably damaging Het
Ctso T A 3: 81,941,529 probably benign Het
Ddhd2 C A 8: 25,746,954 probably null Het
Dscaml1 T A 9: 45,447,796 Y118N probably damaging Het
Ece1 C T 4: 137,938,733 A296V probably benign Het
Fbxo40 T A 16: 36,970,404 I115F possibly damaging Het
Fkbp9 T A 6: 56,850,624 N143K probably damaging Het
Foxk2 G T 11: 121,299,576 probably benign Het
Ggnbp1 A G 17: 27,029,555 K33E probably benign Het
Hace1 A T 10: 45,671,434 probably benign Het
Hk3 A T 13: 55,014,294 C133S probably damaging Het
Kbtbd3 C T 9: 4,331,252 A542V probably damaging Het
Lrch2 A C X: 147,480,541 V363G probably damaging Het
Lrch2 C T X: 147,519,135 C264Y probably damaging Het
Lrrc56 C A 7: 141,207,633 probably benign Het
Lrtm2 C T 6: 119,317,238 V311M probably damaging Het
N4bp1 G T 8: 86,860,901 Q470K probably benign Het
Naa15 A C 3: 51,460,131 D575A probably benign Het
Ncaph A T 2: 127,127,536 V69D probably damaging Het
Nlrp5 G A 7: 23,424,064 probably null Het
Nmbr A G 10: 14,760,587 D100G probably damaging Het
Ofcc1 C T 13: 40,097,077 V588M possibly damaging Het
Olfr142 G T 2: 90,252,505 T161N probably damaging Het
Olfr481 C A 7: 108,081,742 probably benign Het
Pcdhb16 C T 18: 37,478,217 Q77* probably null Het
Pglyrp4 G A 3: 90,735,648 probably null Het
Ptprh A G 7: 4,549,499 F922S probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rp1 T A 1: 4,348,450 Q813L possibly damaging Het
Sgtb A G 13: 104,118,414 N64S probably benign Het
Slc5a12 T C 2: 110,640,856 V481A probably benign Het
Slitrk1 A G 14: 108,911,917 V454A probably benign Het
Sntg2 C A 12: 30,267,026 probably null Het
Synj1 C T 16: 90,974,045 V499I probably damaging Het
Tmco1 T C 1: 167,326,028 probably benign Het
Tmem38b T C 4: 53,848,871 I92T probably damaging Het
Tmem9 T C 1: 136,027,407 V93A probably benign Het
Ttn T A 2: 76,795,238 R15080S possibly damaging Het
Ube2e3 T C 2: 78,918,721 I138T probably damaging Het
Urgcp A G 11: 5,715,752 I862T possibly damaging Het
Vmn1r68 A T 7: 10,527,676 I165N probably benign Het
Washc4 G A 10: 83,558,853 V316I possibly damaging Het
Zfp111 A T 7: 24,199,688 L166Q possibly damaging Het
Zfyve1 A T 12: 83,550,944 probably benign Het
Zscan18 A G 7: 12,774,866 probably benign Het
Other mutations in Osmr
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02357:Osmr APN 15 6828663 missense probably benign 0.00
IGL02545:Osmr APN 15 6823579 missense probably damaging 0.98
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 not run
Posted On2015-04-16