Incidental Mutation 'IGL01307:Osmr'
ID73507
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 #IGL01307
Quality Score
Status
Chromosome15
Chromosomal Location6813577-6874969 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6844427 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 163 (V163A)
Ref Sequence ENSEMBL: ENSMUSP00000135204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022746] [ENSMUST00000176826]
Predicted Effect probably damaging
Transcript: ENSMUST00000022746
AA Change: V163A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022746
Gene: ENSMUSG00000022146
AA Change: V163A

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: V163A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135204
Gene: ENSMUSG00000022146
AA Change: V163A

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,297,159 M2302K possibly damaging Het
Actl9 A G 17: 33,434,178 E404G probably damaging Het
Adamts12 A T 15: 11,237,546 I314L possibly damaging Het
Card6 C A 15: 5,100,002 M637I possibly damaging Het
Ccdc122 G A 14: 77,092,076 probably benign Het
Cdh10 A G 15: 18,899,800 D71G probably benign Het
Cdk15 A T 1: 59,287,796 Y214F probably benign Het
Cdon A G 9: 35,457,564 K365E probably benign Het
Cyp2c37 T C 19: 39,992,579 V47A probably benign Het
Ddc T A 11: 11,839,462 D271V probably damaging Het
Dnah6 G A 6: 73,065,725 A3290V probably damaging Het
Dtl A T 1: 191,570,699 S20T possibly damaging Het
Egf A C 3: 129,739,993 I66S probably damaging Het
Eif4a3 T C 11: 119,293,561 K268E probably damaging Het
Fam205a1 G T 4: 42,850,963 L398I probably benign Het
Fbxl16 A T 17: 25,819,364 probably benign Het
Fez2 C T 17: 78,381,600 probably benign Het
Fras1 C A 5: 96,781,692 T3985K probably benign Het
Gbp4 T C 5: 105,137,021 M1V probably null Het
Gpnmb A G 6: 49,045,365 D143G probably benign Het
Grm5 A T 7: 88,075,012 T837S probably damaging Het
Hmcn1 T C 1: 150,745,001 T1153A possibly damaging Het
Hp C T 8: 109,575,783 V178I probably benign Het
Macf1 A T 4: 123,383,129 V4061E probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtf2 C T 5: 108,106,890 T519M probably damaging Het
Myo3a T A 2: 22,558,289 N25K probably damaging Het
Ncapd2 A G 6: 125,168,619 V1355A possibly damaging Het
Nhlrc2 C A 19: 56,551,799 Y73* probably null Het
Nwd2 A T 5: 63,808,283 S1737C possibly damaging Het
Olfr59 T A 11: 74,289,428 C261S possibly damaging Het
Palm3 T C 8: 84,029,445 S529P possibly damaging Het
Pcnt A G 10: 76,411,588 Y1037H probably damaging Het
Pkhd1l1 T C 15: 44,530,029 I1920T possibly damaging Het
Plekha7 A G 7: 116,145,244 probably benign Het
Psd C T 19: 46,314,658 G762R probably damaging Het
Psmb8 A G 17: 34,199,236 T51A probably benign Het
Rbm12 A C 2: 156,095,382 probably benign Het
Rictor T A 15: 6,774,604 probably null Het
Slc24a5 G A 2: 125,080,880 G158S probably damaging Het
Stag1 A G 9: 100,951,788 probably benign Het
Tln2 A G 9: 67,395,467 M74T probably benign Het
Trim24 C A 6: 37,965,635 D957E possibly damaging Het
Trpa1 A T 1: 14,896,547 M531K probably benign Het
Ttn A G 2: 76,906,293 Y4376H possibly damaging Het
Twsg1 T C 17: 65,948,651 probably benign Het
Usp34 T A 11: 23,417,676 V1671E probably damaging Het
Vwa5b2 A G 16: 20,604,270 D1006G 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
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
IGL02619:Osmr APN 15 6841994 missense probably damaging 1.00
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 On2013-10-07