Incidental Mutation 'R2655:Epor'
ID 252668
Institutional Source Beutler Lab
Gene Symbol Epor
Ensembl Gene ENSMUSG00000006235
Gene Name erythropoietin receptor
Synonyms
MMRRC Submission 040430-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2655 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 21870193-21874802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21872016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 236 (S236P)
Ref Sequence ENSEMBL: ENSMUSP00000006397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006397] [ENSMUST00000053583] [ENSMUST00000213181]
AlphaFold P14753
Predicted Effect probably damaging
Transcript: ENSMUST00000006397
AA Change: S236P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: S236P

DomainStartEndE-ValueType
Pfam:EpoR_lig-bind 37 139 9.1e-30 PFAM
FN3 144 227 2.48e-6 SMART
transmembrane domain 250 272 N/A INTRINSIC
low complexity region 434 451 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000053583
SMART Domains Protein: ENSMUSP00000060331
Gene: ENSMUSG00000051238

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
low complexity region 40 52 N/A INTRINSIC
Blast:AAA 53 189 3e-34 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000213181
Meta Mutation Damage Score 0.7124 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this locus affect erythropoiesis. Targeted null mutants die at embryonic day 11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T A 12: 84,122,650 (GRCm39) S411R probably benign Het
Adamts12 A T 15: 11,065,174 (GRCm39) N20Y possibly damaging Het
Bbs9 G A 9: 22,415,348 (GRCm39) E91K probably damaging Het
Casp4 C A 9: 5,322,894 (GRCm39) L57I possibly damaging Het
Cat T C 2: 103,302,191 (GRCm39) K169E probably damaging Het
Cav1 A G 6: 17,339,359 (GRCm39) Y148C probably damaging Het
Cep112 T C 11: 108,328,027 (GRCm39) probably benign Het
Chaf1b T C 16: 93,688,399 (GRCm39) S165P probably damaging Het
Crat A G 2: 30,292,703 (GRCm39) S115P probably damaging Het
Eif2b1 A G 5: 124,714,917 (GRCm39) S120P probably damaging Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Igfbpl1 T C 4: 45,816,289 (GRCm39) T179A probably damaging Het
Ighv14-4 T G 12: 114,140,068 (GRCm39) Y114S probably damaging Het
Ipcef1 T C 10: 6,929,657 (GRCm39) I29V probably benign Het
Junb A G 8: 85,704,137 (GRCm39) S308P probably damaging Het
Kcnh5 T C 12: 75,161,314 (GRCm39) E198G probably damaging Het
Ltbp1 G A 17: 75,312,978 (GRCm39) R33H possibly damaging Het
Map3k20 C A 2: 72,263,764 (GRCm39) T471K probably damaging Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Odad4 T A 11: 100,444,405 (GRCm39) W237R probably damaging Het
Or51a10 T C 7: 103,698,638 (GRCm39) M308V probably benign Het
Or8g35 A T 9: 39,381,924 (GRCm39) S33T probably benign Het
Patj T C 4: 98,325,687 (GRCm39) V508A possibly damaging Het
Pkd1 T C 17: 24,795,464 (GRCm39) V2319A probably damaging Het
Pnpla7 A G 2: 24,942,330 (GRCm39) Y83C probably damaging Het
Prb1a G C 6: 132,187,425 (GRCm39) Q19E unknown Het
Rasa3 T C 8: 13,645,373 (GRCm39) T189A possibly damaging Het
Reck T A 4: 43,938,966 (GRCm39) D777E probably benign Het
Rfx6 A G 10: 51,569,873 (GRCm39) probably benign Het
Serpinb13 A G 1: 106,928,157 (GRCm39) D259G probably damaging Het
Slit2 G A 5: 48,346,917 (GRCm39) R253Q possibly damaging Het
Slu7 A G 11: 43,331,475 (GRCm39) E203G probably benign Het
Syt4 A T 18: 31,576,597 (GRCm39) D252E probably benign Het
Tpte A G 8: 22,801,294 (GRCm39) probably null Het
Ttll7 A G 3: 146,653,376 (GRCm39) Y729C probably damaging Het
Usp35 T A 7: 96,961,354 (GRCm39) T691S probably benign Het
Vmn1r211 A G 13: 23,036,586 (GRCm39) V27A probably benign Het
Vmn2r72 T C 7: 85,400,477 (GRCm39) T191A possibly damaging Het
Vwa5b1 C T 4: 138,321,614 (GRCm39) G393D probably damaging Het
Other mutations in Epor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Epor APN 9 21,871,887 (GRCm39) missense possibly damaging 0.50
IGL01377:Epor APN 9 21,870,593 (GRCm39) missense probably damaging 1.00
IGL01400:Epor APN 9 21,870,735 (GRCm39) splice site probably null
IGL01462:Epor APN 9 21,870,752 (GRCm39) missense probably damaging 1.00
R1741:Epor UTSW 9 21,871,067 (GRCm39) missense probably damaging 1.00
R1983:Epor UTSW 9 21,870,696 (GRCm39) missense probably benign 0.00
R2414:Epor UTSW 9 21,870,785 (GRCm39) missense probably damaging 1.00
R2879:Epor UTSW 9 21,870,936 (GRCm39) missense probably damaging 1.00
R4598:Epor UTSW 9 21,873,155 (GRCm39) missense probably benign 0.00
R4599:Epor UTSW 9 21,873,155 (GRCm39) missense probably benign 0.00
R5987:Epor UTSW 9 21,873,572 (GRCm39) missense possibly damaging 0.83
R6462:Epor UTSW 9 21,870,551 (GRCm39) missense probably benign 0.05
R7182:Epor UTSW 9 21,874,625 (GRCm39) missense probably benign 0.01
R7413:Epor UTSW 9 21,874,776 (GRCm39) unclassified probably benign
R8717:Epor UTSW 9 21,870,741 (GRCm39) missense probably benign 0.00
R9053:Epor UTSW 9 21,870,655 (GRCm39) missense probably benign 0.28
R9108:Epor UTSW 9 21,870,875 (GRCm39) missense probably damaging 1.00
R9494:Epor UTSW 9 21,870,522 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGACGATCTAAGTCAGACCTC -3'
(R):5'- AATCCCTTTCTCACTGGGTG -3'

Sequencing Primer
(F):5'- CGATCTAAGTCAGACCTCAGGTG -3'
(R):5'- ATCCCTTTCTCACTGGGTGTGTTG -3'
Posted On 2014-12-04