Incidental Mutation 'R7412:Osmr'
ID 575178
Institutional Source Beutler Lab
Gene Symbol Osmr
Ensembl Gene ENSMUSG00000022146
Gene Name oncostatin M receptor
Synonyms OSMRB
MMRRC Submission 045493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7412 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 6843049-6904434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6853048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 616 (Y616H)
Ref Sequence ENSEMBL: ENSMUSP00000022746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022746] [ENSMUST00000176826]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022746
AA Change: Y616H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: Y616H

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 damaging
Transcript: ENSMUST00000176826
AA Change: Y615H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: Y615H

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (71/73)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,448,691 (GRCm39) Y335* probably null Het
Alpk1 A T 3: 127,466,143 (GRCm39) L1121Q probably damaging Het
Alpk1 A G 3: 127,489,382 (GRCm39) I99T probably damaging Het
Ap2a2 T A 7: 141,206,049 (GRCm39) F717I probably damaging Het
Arhgap33 C T 7: 30,222,477 (GRCm39) D1152N probably benign Het
Arvcf A G 16: 18,220,350 (GRCm39) D642G probably benign Het
Astn1 T G 1: 158,329,919 (GRCm39) M258R probably damaging Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Carmil1 T C 13: 24,282,793 (GRCm39) D547G possibly damaging Het
Ccdc177 A G 12: 80,805,792 (GRCm39) F161L possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cnot10 A G 9: 114,454,971 (GRCm39) Y221H probably damaging Het
Col6a3 T A 1: 90,755,855 (GRCm39) I145F probably damaging Het
Crybg2 A G 4: 133,801,434 (GRCm39) T865A probably benign Het
Cyp4f37 A G 17: 32,848,818 (GRCm39) S229G possibly damaging Het
Ddx56 G A 11: 6,211,720 (GRCm39) T462I probably damaging Het
Dhx30 T C 9: 109,921,966 (GRCm39) M239V probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Ephb6 A G 6: 41,597,173 (GRCm39) K994E probably damaging Het
Fam83a A C 15: 57,849,821 (GRCm39) T122P probably benign Het
Fbxo24 C A 5: 137,617,885 (GRCm39) C293F possibly damaging Het
Fech A T 18: 64,591,255 (GRCm39) S390T probably benign Het
Fras1 A G 5: 96,762,748 (GRCm39) H750R probably benign Het
Frmpd2 A G 14: 33,293,926 (GRCm39) D1364G probably benign Het
Ganab T C 19: 8,889,892 (GRCm39) I652T probably benign Het
Gm21103 T A 14: 17,482,943 (GRCm39) T153S probably benign Het
Gm21886 GGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGTTAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG GGGCCTGCAGACAGTAGGTACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAG 18: 80,132,967 (GRCm39) probably benign Het
Gm5799 A G 14: 43,781,995 (GRCm39) I56V possibly damaging Het
Gm7276 T C 18: 77,273,183 (GRCm39) R184G unknown Het
Gmip T G 8: 70,273,149 (GRCm39) D845E probably benign Het
Hspa9 T C 18: 35,082,082 (GRCm39) K175E probably damaging Het
Ipo13 A G 4: 117,752,068 (GRCm39) F890L probably benign Het
Irag1 A T 7: 110,522,963 (GRCm39) V160D probably benign Het
Klrb1f C T 6: 129,033,308 (GRCm39) R179* probably null Het
Nasp A G 4: 116,467,785 (GRCm39) V400A possibly damaging Het
Ncoa7 T A 10: 30,598,847 (GRCm39) K25N possibly damaging Het
Ndrg1 A C 15: 66,832,382 (GRCm39) M1R probably null Het
Nf1 G A 11: 79,364,240 (GRCm39) A1557T probably damaging Het
Nrde2 G A 12: 100,108,509 (GRCm39) Q361* probably null Het
Opn1sw A T 6: 29,379,856 (GRCm39) L126Q probably damaging Het
Or10ak16 A T 4: 118,750,327 (GRCm39) I16F possibly damaging Het
Or1af1 C T 2: 37,109,774 (GRCm39) T91I possibly damaging Het
Or1j4 T C 2: 36,740,478 (GRCm39) L140P probably benign Het
Or5au1 A T 14: 52,273,310 (GRCm39) L86* probably null Het
Or7g17 A T 9: 18,768,085 (GRCm39) I46F possibly damaging Het
Or8g50 T C 9: 39,648,422 (GRCm39) F104L probably benign Het
Pagr1a T C 7: 126,615,736 (GRCm39) T120A probably benign Het
Patj A G 4: 98,299,376 (GRCm39) E166G probably damaging Het
Plk4 G A 3: 40,766,613 (GRCm39) V764I probably benign Het
Polr3h G A 15: 81,800,602 (GRCm39) probably null Het
Ptprb T A 10: 116,177,043 (GRCm39) D989E probably benign Het
Sdk2 A T 11: 113,758,909 (GRCm39) probably null Het
Setd1b C A 5: 123,290,639 (GRCm39) R869S unknown Het
Sgcz T C 8: 37,990,565 (GRCm39) I263V probably benign Het
Skint8 G A 4: 111,785,758 (GRCm39) G68D probably benign Het
Slc22a7 A T 17: 46,745,553 (GRCm39) V326E probably benign Het
Slc39a1 T G 3: 90,156,396 (GRCm39) L38R probably damaging Het
Slc4a4 A G 5: 89,362,506 (GRCm39) probably null Het
Sptlc3 A G 2: 139,431,537 (GRCm39) E353G possibly damaging Het
Ssh2 G T 11: 77,340,934 (GRCm39) L695F probably damaging Het
Tacr2 C A 10: 62,097,427 (GRCm39) Y302* probably null Het
Tas2r117 T C 6: 132,780,192 (GRCm39) L110P probably damaging Het
Tex9 A T 9: 72,394,060 (GRCm39) probably null Het
Tmem17 A T 11: 22,468,645 (GRCm39) T195S probably benign Het
Trcg1 T A 9: 57,148,766 (GRCm39) S113T probably benign Het
Trpa1 A T 1: 14,954,422 (GRCm39) F826I probably benign Het
Usp17lc A G 7: 103,067,575 (GRCm39) Y290C probably damaging Het
Vmn2r32 T A 7: 7,477,212 (GRCm39) D393V possibly damaging Het
Wdfy4 A G 14: 32,871,541 (GRCm39) L290P Het
Xpnpep1 G C 19: 52,994,722 (GRCm39) A302G probably benign Het
Xrn2 T C 2: 146,891,266 (GRCm39) L692P probably damaging Het
Zgrf1 A G 3: 127,356,720 (GRCm39) S649G probably benign Het
Zscan4b C T 7: 10,634,791 (GRCm39) C484Y probably damaging Het
Zscan4b T C 7: 10,635,820 (GRCm39) D169G 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
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
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'- CCATCTCCTAGAATGAAGATGTTTC -3'
(R):5'- CTACTAGGGGTTGCTTGCTTAC -3'

Sequencing Primer
(F):5'- GGCTATACAGAGAAACCCTGTCTTG -3'
(R):5'- GGTTGCTTGCTTACTGTCTGTCC -3'
Posted On 2019-10-07