Incidental Mutation 'R4751:Osmr'
ID 357637
Institutional Source Beutler Lab
Gene Symbol Osmr
Ensembl Gene ENSMUSG00000022146
Gene Name oncostatin M receptor
Synonyms OSMRB
MMRRC Submission 041970-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4751 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 6843049-6904434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6872333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 254 (W254R)
Ref Sequence ENSEMBL: ENSMUSP00000135204 (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: W254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: W254R

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: W254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: W254R

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
Meta Mutation Damage Score 0.9430 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 95% (124/131)
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 127,836,258 (GRCm39) C112S probably benign Het
Abca13 G A 11: 9,227,973 (GRCm39) probably null Het
Abca14 A G 7: 119,911,400 (GRCm39) E1328G probably benign Het
Abca9 T A 11: 110,021,396 (GRCm39) I1105F probably benign Het
Abr T C 11: 76,347,434 (GRCm39) N396D possibly damaging Het
Aftph A C 11: 20,677,074 (GRCm39) C178W probably damaging Het
Akr1c14 T C 13: 4,115,338 (GRCm39) F89S possibly damaging Het
Ank3 C T 10: 69,822,036 (GRCm39) A1518V probably benign Het
Arfgap2 T G 2: 91,097,713 (GRCm39) S143R probably benign Het
Aspdh T A 7: 44,116,629 (GRCm39) C107* probably null Het
Asphd2 C A 5: 112,539,612 (GRCm39) G74W probably damaging Het
AU040320 G A 4: 126,748,259 (GRCm39) probably null Het
B3glct T A 5: 149,648,867 (GRCm39) probably null Het
Bcl9l A G 9: 44,418,100 (GRCm39) K646R probably damaging Het
Brat1 T G 5: 140,704,051 (GRCm39) L768R probably damaging Het
Btbd18 T A 2: 84,498,265 (GRCm39) Y634* probably null Het
Bub1 T A 2: 127,665,858 (GRCm39) probably benign Het
Carns1 A T 19: 4,216,417 (GRCm39) D588E probably damaging Het
Cast T C 13: 74,894,166 (GRCm39) K141E probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Chsy3 T C 18: 59,308,872 (GRCm39) S42P possibly damaging Het
Clca3a1 A T 3: 144,710,609 (GRCm39) F865I possibly damaging Het
Clec4f T A 6: 83,622,264 (GRCm39) M526L possibly damaging Het
Clnk T C 5: 38,878,256 (GRCm39) E301G probably benign Het
Colgalt2 T A 1: 152,365,627 (GRCm39) I309N probably benign Het
Cyp2e1 A T 7: 140,354,629 (GRCm39) K326* probably null Het
Dagla T A 19: 10,227,758 (GRCm39) T717S probably benign Het
Dnajc11 G A 4: 152,052,999 (GRCm39) R141H probably benign Het
Dst A G 1: 34,230,965 (GRCm39) K2853E probably benign Het
Eif4g1 A G 16: 20,505,265 (GRCm39) K1208E possibly damaging Het
Elane A G 10: 79,722,625 (GRCm39) R48G probably benign Het
Fbxo30 T A 10: 11,165,939 (GRCm39) N220K probably benign Het
Fbxo33 A T 12: 59,247,714 (GRCm39) probably benign Het
Fetub G A 16: 22,756,645 (GRCm39) V169I probably benign Het
Gpx6 A C 13: 21,501,234 (GRCm39) Q107H probably damaging Het
H2bc18 A T 3: 96,176,467 (GRCm39) probably benign Het
Homer3 A T 8: 70,738,084 (GRCm39) I19F probably damaging Het
Hspa4 C T 11: 53,175,026 (GRCm39) V144I probably benign Het
Icos C T 1: 61,032,876 (GRCm39) S25L probably benign Het
Ifna4 A G 4: 88,760,185 (GRCm39) T30A probably benign Het
Ino80b C T 6: 83,101,731 (GRCm39) G46D probably damaging Het
Kpna2 T G 11: 106,883,490 (GRCm39) I100L possibly damaging Het
Krt71 C T 15: 101,643,901 (GRCm39) G446R probably damaging Het
Krtap31-2 A G 11: 99,827,402 (GRCm39) N78S possibly damaging Het
Lman1 A G 18: 66,131,505 (GRCm39) S132P probably benign Het
Lmna T C 3: 88,393,840 (GRCm39) Q246R possibly damaging Het
Lrp10 T A 14: 54,706,049 (GRCm39) V413E probably damaging Het
Macf1 A C 4: 123,365,443 (GRCm39) I1541S probably benign Het
Med24 A G 11: 98,597,258 (GRCm39) L874P probably damaging Het
Mgll T A 6: 88,702,093 (GRCm39) probably benign Het
Mrpl37 A T 4: 106,914,672 (GRCm39) L364Q probably damaging Het
Mrpl47 C T 3: 32,782,590 (GRCm39) R209H probably benign Het
Muc5ac T C 7: 141,371,338 (GRCm39) F3285L probably benign Het
Mylk A G 16: 34,699,539 (GRCm39) R301G probably benign Het
Nacad A G 11: 6,555,726 (GRCm39) L8P unknown Het
Ncf1 T A 5: 134,258,399 (GRCm39) H8L probably damaging Het
Ncoa3 T A 2: 165,911,823 (GRCm39) M1383K possibly damaging Het
Necab2 C T 8: 120,194,337 (GRCm39) S271L probably benign Het
Nme8 A T 13: 19,859,808 (GRCm39) probably null Het
Nsrp1 T G 11: 76,967,545 (GRCm39) T16P possibly damaging Het
Obox3 A T 7: 15,359,617 (GRCm39) probably null Het
Or1l8 T C 2: 36,817,595 (GRCm39) H177R probably damaging Het
Or4c108 A G 2: 88,803,477 (GRCm39) C253R probably damaging Het
Or4c15 T A 2: 88,760,258 (GRCm39) I134F probably damaging Het
Or4d6 T A 19: 12,086,541 (GRCm39) Y123F probably damaging Het
Or52n2b A T 7: 104,565,617 (GRCm39) Y295* probably null Het
Or6b2 C A 1: 92,407,705 (GRCm39) A213S probably benign Het
Osbpl3 C G 6: 50,277,977 (GRCm39) E790Q possibly damaging Het
Otoa T C 7: 120,732,147 (GRCm39) probably benign Het
Pagr1a A T 7: 126,614,551 (GRCm39) L218H probably damaging Het
Pcdha11 G A 18: 37,139,997 (GRCm39) G542D probably damaging Het
Pck2 T A 14: 55,780,018 (GRCm39) I54N probably damaging Het
Ppif T C 14: 25,699,923 (GRCm39) V173A probably damaging Het
Ptgs2 T A 1: 149,979,771 (GRCm39) L292H probably damaging Het
Ptpru A G 4: 131,529,897 (GRCm39) S604P probably damaging Het
Qrfpr T C 3: 36,236,771 (GRCm39) H210R possibly damaging Het
Rasgrf1 A G 9: 89,792,171 (GRCm39) T41A probably damaging Het
Rasgrf1 A G 9: 89,894,919 (GRCm39) H1113R probably damaging Het
Rhoc T A 3: 104,699,963 (GRCm39) I80N probably damaging Het
Riok3 A G 18: 12,287,040 (GRCm39) N472S probably benign Het
Rnf213 A G 11: 119,336,571 (GRCm39) Y3314C probably benign Het
Shank2 C T 7: 143,963,205 (GRCm39) T264I probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l1 A G 12: 82,387,968 (GRCm39) I65V probably benign Het
Slc22a19 T C 19: 7,668,510 (GRCm39) K291R possibly damaging Het
Slc22a20 T C 19: 6,030,488 (GRCm39) I315V probably benign Het
Slc44a1 A T 4: 53,560,973 (GRCm39) D563V probably damaging Het
Smchd1 A T 17: 71,698,463 (GRCm39) H1104Q probably benign Het
Spcs2 A T 7: 99,493,976 (GRCm39) probably null Het
Speer1e T A 5: 11,236,458 (GRCm39) Y138N probably damaging Het
Sptb T C 12: 76,673,884 (GRCm39) E301G probably benign Het
Stum T C 1: 180,270,234 (GRCm39) D86G probably damaging Het
Sufu A T 19: 46,472,088 (GRCm39) D449V probably benign Het
Sun5 T C 2: 153,707,936 (GRCm39) probably null Het
Tbc1d15 T A 10: 115,038,492 (GRCm39) I574F probably damaging Het
Tert G A 13: 73,776,182 (GRCm39) S311N possibly damaging Het
Tiparp T C 3: 65,460,225 (GRCm39) Y507H probably damaging Het
Tnk2 T C 16: 32,498,675 (GRCm39) C158R probably damaging Het
Tpgs1 T C 10: 79,511,454 (GRCm39) S199P possibly damaging Het
Trdmt1 G T 2: 13,549,464 (GRCm39) probably benign Het
Trp53bp1 T A 2: 121,058,290 (GRCm39) D944V probably damaging Het
Tsc1 T A 2: 28,569,093 (GRCm39) I720N probably damaging Het
Ttn T C 2: 76,539,949 (GRCm39) T34346A probably benign Het
Ttn T C 2: 76,727,925 (GRCm39) probably benign Het
Uba7 T A 9: 107,857,004 (GRCm39) C686S possibly damaging Het
Ush2a T A 1: 188,582,284 (GRCm39) F3782L probably damaging Het
Vars2 A T 17: 35,970,235 (GRCm39) H745Q possibly damaging Het
Vgf T A 5: 137,061,255 (GRCm39) D472E probably damaging Het
Vmn2r15 T C 5: 109,434,620 (GRCm39) M695V probably benign Het
Vps41 A T 13: 18,995,792 (GRCm39) D208V probably damaging Het
Vta1 C T 10: 14,531,560 (GRCm39) A272T probably benign Het
Wnk4 G A 11: 101,167,188 (GRCm39) probably benign Het
Zfp507 T C 7: 35,493,807 (GRCm39) K412R probably damaging Het
Zfp768 A G 7: 126,943,934 (GRCm39) F65L possibly damaging Het
Zfp956 T C 6: 47,940,510 (GRCm39) S290P 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
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
Predicted Primers PCR Primer
(F):5'- GACACATCCAAGAGTATGTGTGTC -3'
(R):5'- ACCTGAAGAGCCTTTCTGGG -3'

Sequencing Primer
(F):5'- ACATCCAAGAGTATGTGTGTCTTCTC -3'
(R):5'- GGGCTATTGATCTGCTGACTTCC -3'
Posted On 2015-11-11