Incidental Mutation 'R8094:Osmr'
ID 630110
Institutional Source Beutler Lab
Gene Symbol Osmr
Ensembl Gene ENSMUSG00000022146
Gene Name oncostatin M receptor
Synonyms OSMRB
MMRRC Submission 067526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8094 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 6843049-6904434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6845102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 889 (N889S)
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: N889S

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: N889S

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 possibly damaging
Transcript: ENSMUST00000176826
AA Change: N888S

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: N888S

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.0%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik T A 8: 12,329,824 (GRCm39) L93H unknown Het
A2ml1 A G 6: 128,549,045 (GRCm39) Y246H probably damaging Het
Akap11 C A 14: 78,750,413 (GRCm39) C658F Het
Arid2 T G 15: 96,266,592 (GRCm39) S547A possibly damaging Het
Atf1 C A 15: 100,143,170 (GRCm39) D46E probably damaging Het
Brca2 T A 5: 150,459,634 (GRCm39) F303Y possibly damaging Het
Btbd18 T A 2: 84,498,260 (GRCm39) S633T possibly damaging Het
Btg4 T G 9: 51,030,445 (GRCm39) F182V probably benign Het
Cacna1e G A 1: 154,437,516 (GRCm39) S340F probably damaging Het
Camta2 A G 11: 70,576,903 (GRCm39) W41R probably damaging Het
Cbl A T 9: 44,074,696 (GRCm39) D455E probably benign Het
Ccdc162 A T 10: 41,488,864 (GRCm39) D1208E probably benign Het
Cd177 A T 7: 24,443,842 (GRCm39) M752K probably damaging Het
Cep290 A T 10: 100,380,793 (GRCm39) H100L possibly damaging Het
Chrnb2 T A 3: 89,668,698 (GRCm39) I206F probably damaging Het
Cyp2c40 A G 19: 39,791,009 (GRCm39) L274S probably benign Het
Cyp2c40 T A 19: 39,791,015 (GRCm39) Y272F probably benign Het
Cyp2d22 C A 15: 82,258,556 (GRCm39) A102S probably benign Het
Cyp51 C T 5: 4,136,490 (GRCm39) E435K probably benign Het
Dchs2 T C 3: 83,262,929 (GRCm39) F3066L probably benign Het
Disp1 C A 1: 182,869,192 (GRCm39) R1076L probably damaging Het
Dkk2 C T 3: 131,791,801 (GRCm39) A3V probably benign Het
Dnah7b T C 1: 46,165,964 (GRCm39) F543S probably benign Het
Dpt A T 1: 164,624,481 (GRCm39) S61C probably damaging Het
Drg2 A T 11: 60,353,096 (GRCm39) Y243F probably damaging Het
Dsg2 A G 18: 20,716,061 (GRCm39) probably benign Het
Dst T G 1: 34,228,040 (GRCm39) L1878V possibly damaging Het
F5 A G 1: 164,036,509 (GRCm39) Y1890C probably benign Het
Fat1 T C 8: 45,405,739 (GRCm39) V830A probably damaging Het
Fat2 C T 11: 55,186,965 (GRCm39) D1294N probably benign Het
Fbxo15 A G 18: 84,983,618 (GRCm39) Y322C probably benign Het
Fcsk A G 8: 111,622,604 (GRCm39) F108S probably damaging Het
Fhit A T 14: 10,751,666 (GRCm38) N7K unknown Het
Gabrb2 A G 11: 42,488,370 (GRCm39) I279V probably damaging Het
Galk2 T C 2: 125,773,189 (GRCm39) F207S probably damaging Het
Gtpbp3 C T 8: 71,941,480 (GRCm39) L17F possibly damaging Het
Gucy2c T A 6: 136,714,446 (GRCm39) D460V probably benign Het
Herc1 G A 9: 66,400,462 (GRCm39) V4329I probably damaging Het
Iqcn T C 8: 71,162,067 (GRCm39) V420A probably benign Het
Kirrel3 G A 9: 34,946,460 (GRCm39) V740M probably damaging Het
Macf1 C A 4: 123,263,660 (GRCm39) V6956L probably damaging Het
Mill1 C T 7: 17,989,835 (GRCm39) A39V probably benign Het
Mkln1 T A 6: 31,469,588 (GRCm39) Y599* probably null Het
Mrpl14 T A 17: 46,009,039 (GRCm39) L46Q possibly damaging Het
Myom2 G T 8: 15,119,418 (GRCm39) R103L possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndst2 A T 14: 20,778,232 (GRCm39) V449D probably damaging Het
Nell1 T A 7: 49,770,335 (GRCm39) H131Q probably benign Het
Nos3 G C 5: 24,572,218 (GRCm39) R97P probably benign Het
Npc1 A T 18: 12,327,297 (GRCm39) F1099L probably benign Het
Nxpe5 T A 5: 138,249,802 (GRCm39) W531R probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1j1 A T 2: 36,702,330 (GRCm39) L258H probably damaging Het
Or4c110 T C 2: 88,832,712 (GRCm39) probably benign Het
Or5b98 A T 19: 12,931,366 (GRCm39) T138S probably benign Het
Or6c210 A G 10: 129,495,933 (GRCm39) D86G probably damaging Het
Oxct2b A G 4: 123,010,301 (GRCm39) I74V possibly damaging Het
Pakap A G 4: 57,886,319 (GRCm39) T859A possibly damaging Het
Phldb3 C A 7: 24,326,134 (GRCm39) A572D probably damaging Het
Pigr A G 1: 130,774,247 (GRCm39) E409G probably damaging Het
Ptprs T C 17: 56,735,947 (GRCm39) E674G probably benign Het
Ptpru G A 4: 131,520,903 (GRCm39) T801I possibly damaging Het
Ralgapa1 T A 12: 55,829,631 (GRCm39) D200V probably damaging Het
Rb1cc1 A T 1: 6,333,448 (GRCm39) R1429* probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnpep A T 1: 135,211,514 (GRCm39) L78Q probably damaging Het
Rtn2 A T 7: 19,027,791 (GRCm39) I394F probably damaging Het
Satb2 A T 1: 56,870,623 (GRCm39) V572D possibly damaging Het
Sds T C 5: 120,617,001 (GRCm39) probably benign Het
Serpina10 TTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCC 12: 103,595,032 (GRCm39) probably benign Het
Sgo2a T C 1: 58,056,300 (GRCm39) I828T possibly damaging Het
Slc25a33 T A 4: 149,840,609 (GRCm39) K79N probably benign Het
Slc25a51 A C 4: 45,399,783 (GRCm39) F136V probably benign Het
Slfn14 T A 11: 83,174,119 (GRCm39) K291* probably null Het
Sp100 A G 1: 85,624,819 (GRCm39) K403E possibly damaging Het
Spaca1 C T 4: 34,049,837 (GRCm39) E54K possibly damaging Het
Sympk T G 7: 18,787,373 (GRCm39) probably null Het
Syne1 A T 10: 5,067,031 (GRCm39) V7078D probably damaging Het
Tas2r121 T A 6: 132,677,772 (GRCm39) I67L probably benign Het
Tha1 T C 11: 117,759,323 (GRCm39) K389E probably benign Het
Thbs2 T A 17: 14,900,584 (GRCm39) Q541L probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem94 T C 11: 115,679,218 (GRCm39) probably null Het
Tnfsf13 A G 11: 69,575,983 (GRCm39) C35R probably damaging Het
Trcg1 C A 9: 57,149,564 (GRCm39) Q379K probably benign Het
Ubr4 T C 4: 139,168,007 (GRCm39) S1507P probably damaging Het
Uckl1 A G 2: 181,215,049 (GRCm39) I268T probably damaging Het
Uvrag T C 7: 98,641,174 (GRCm39) K289E possibly damaging Het
Vmn2r104 C A 17: 20,250,483 (GRCm39) C596F possibly damaging Het
Vmn2r11 A T 5: 109,201,626 (GRCm39) F293I probably damaging Het
Vps13b T A 15: 35,669,052 (GRCm39) probably null Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zscan4f T A 7: 11,135,154 (GRCm39) C187S possibly 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
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
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
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'- CTCCCGGGAACTACCATTTG -3'
(R):5'- CAGTGTGTAGGCTCTGGGAAAC -3'

Sequencing Primer
(F):5'- GGGAACTACCATTTGCCTTTTATAC -3'
(R):5'- AGGCTCTGGGAAACTTCACATTG -3'
Posted On 2020-06-30