Incidental Mutation 'R7182:Epor'
ID 559051
Institutional Source Beutler Lab
Gene Symbol Epor
Ensembl Gene ENSMUSG00000006235
Gene Name erythropoietin receptor
MMRRC Submission 045234-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7182 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21958897-21963506 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21963329 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 35 (F35L)
Ref Sequence ENSEMBL: ENSMUSP00000006397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006397] [ENSMUST00000213181]
AlphaFold P14753
Predicted Effect probably benign
Transcript: ENSMUST00000006397
AA Change: F35L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: F35L

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: ENSMUST00000213181
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,849,714 (GRCm38) V323A unknown Het
AC117241.1 A G 17: 7,352,688 (GRCm38) V158A unknown Het
Acadm A G 3: 153,941,881 (GRCm38) probably null Het
Adcy10 T G 1: 165,543,470 (GRCm38) probably null Het
Aldh6a1 C T 12: 84,441,831 (GRCm38) A94T probably benign Het
Ano2 T A 6: 125,790,293 (GRCm38) L229Q probably damaging Het
Cacna1h C T 17: 25,377,655 (GRCm38) R1828H probably damaging Het
Ccdc33 A T 9: 58,034,173 (GRCm38) probably null Het
Cep112 A C 11: 108,682,844 (GRCm38) D6A probably benign Het
Chd9 T C 8: 91,006,622 (GRCm38) F1373S unknown Het
Cog5 T C 12: 31,685,708 (GRCm38) L158P probably damaging Het
Col6a3 G A 1: 90,803,678 (GRCm38) Q1618* probably null Het
Dlg5 A G 14: 24,244,856 (GRCm38) V3A Het
Dnah7a T A 1: 53,620,461 (GRCm38) probably null Het
Dpp10 A T 1: 123,341,151 (GRCm38) H716Q probably benign Het
Ergic1 A T 17: 26,654,882 (GRCm38) Y92F Het
Fam98a G A 17: 75,539,018 (GRCm38) Q273* probably null Het
Fhdc1 G A 3: 84,448,850 (GRCm38) T429I probably damaging Het
Fmnl2 T A 2: 53,107,441 (GRCm38) L468Q unknown Het
Fmnl3 C T 15: 99,321,782 (GRCm38) R695Q probably damaging Het
Gabrg2 T C 11: 41,920,506 (GRCm38) M271V probably damaging Het
Garin4 C T 1: 191,163,351 (GRCm38) R365H probably damaging Het
Gk5 G T 9: 96,119,526 (GRCm38) V26L possibly damaging Het
Gm14412 A C 2: 177,315,615 (GRCm38) N162K probably benign Het
Gm3604 T C 13: 62,371,875 (GRCm38) D22G probably damaging Het
Gm5565 G T 5: 146,158,055 (GRCm38) H294N probably benign Het
Hsf2 T A 10: 57,505,176 (GRCm38) D287E possibly damaging Het
Ift70b A T 2: 75,937,949 (GRCm38) Y153* probably null Het
Impdh2 G A 9: 108,563,208 (GRCm38) R231H possibly damaging Het
Irak3 T C 10: 120,166,511 (GRCm38) H234R probably damaging Het
Lrba GTTCCCTTC GTTC 3: 86,741,458 (GRCm38) probably null Het
Lrch3 T A 16: 32,993,779 (GRCm38) D551E probably benign Het
Manba A T 3: 135,567,513 (GRCm38) N736I probably benign Het
Map2 A G 1: 66,412,653 (GRCm38) D234G possibly damaging Het
Mdk C A 2: 91,930,852 (GRCm38) K121N unknown Het
Mfn1 T A 3: 32,564,220 (GRCm38) L526Q probably damaging Het
Mfsd2b A G 12: 4,866,157 (GRCm38) probably null Het
Mnat1 G T 12: 73,230,678 (GRCm38) E233* probably null Het
Mtmr4 T C 11: 87,604,605 (GRCm38) probably null Het
Mtrf1 A G 14: 79,423,464 (GRCm38) E432G possibly damaging Het
Muc5b C T 7: 141,842,645 (GRCm38) R165C unknown Het
Naip6 T A 13: 100,316,149 (GRCm38) I135F probably benign Het
Nod2 A G 8: 88,663,832 (GRCm38) T256A probably benign Het
Notch4 T A 17: 34,583,499 (GRCm38) V1298E probably damaging Het
Nudc G T 4: 133,534,465 (GRCm38) D169E possibly damaging Het
Obscn A T 11: 59,035,101 (GRCm38) I5602N probably damaging Het
Or5b114-ps1 G A 19: 13,375,844 (GRCm38) G294E unknown Het
Osbpl10 G A 9: 115,067,251 (GRCm38) D18N probably damaging Het
Pigk G A 3: 152,722,551 (GRCm38) V72I possibly damaging Het
Prl8a6 C T 13: 27,437,170 (GRCm38) E26K probably damaging Het
Prpf8 A G 11: 75,490,727 (GRCm38) Y318C possibly damaging Het
Rab13 A G 3: 90,224,763 (GRCm38) D159G possibly damaging Het
Rgl2 T C 17: 33,934,990 (GRCm38) F457L possibly damaging Het
Ryr2 T C 13: 11,759,757 (GRCm38) H1171R probably benign Het
Scn4a T A 11: 106,330,308 (GRCm38) I842F probably benign Het
Scnm1 A T 3: 95,133,854 (GRCm38) N14K possibly damaging Het
Serinc1 A T 10: 57,524,361 (GRCm38) I137N probably benign Het
Slc30a3 A C 5: 31,089,670 (GRCm38) M103R probably damaging Het
Slc30a3 T C 5: 31,086,825 (GRCm38) Q371R probably benign Het
Slco1a1 A T 6: 141,911,839 (GRCm38) C589S probably damaging Het
Slco1b2 A G 6: 141,656,930 (GRCm38) Y203C probably damaging Het
Spty2d1 A T 7: 46,998,523 (GRCm38) D219E probably benign Het
Svep1 A T 4: 58,043,991 (GRCm38) S3552T probably benign Het
Tmem62 A G 2: 121,004,743 (GRCm38) I516M probably benign Het
Trim61 A T 8: 65,013,614 (GRCm38) S332T probably damaging Het
Trmt10b A C 4: 45,308,520 (GRCm38) T227P probably benign Het
Trpc3 T C 3: 36,655,109 (GRCm38) Q406R probably benign Het
Ush2a A T 1: 188,753,543 (GRCm38) Y2950F probably benign Het
Usp32 C T 11: 85,040,170 (GRCm38) G478D probably benign Het
Wdfy3 A G 5: 101,943,892 (GRCm38) L527P possibly damaging Het
Wdr73 A G 7: 80,893,678 (GRCm38) V163A possibly damaging Het
Other mutations in Epor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Epor APN 9 21,960,591 (GRCm38) missense possibly damaging 0.50
IGL01377:Epor APN 9 21,959,297 (GRCm38) missense probably damaging 1.00
IGL01400:Epor APN 9 21,959,439 (GRCm38) splice site probably null
IGL01462:Epor APN 9 21,959,456 (GRCm38) missense probably damaging 1.00
R1741:Epor UTSW 9 21,959,771 (GRCm38) missense probably damaging 1.00
R1983:Epor UTSW 9 21,959,400 (GRCm38) missense probably benign 0.00
R2414:Epor UTSW 9 21,959,489 (GRCm38) missense probably damaging 1.00
R2655:Epor UTSW 9 21,960,720 (GRCm38) missense probably damaging 1.00
R2879:Epor UTSW 9 21,959,640 (GRCm38) missense probably damaging 1.00
R4598:Epor UTSW 9 21,961,859 (GRCm38) missense probably benign 0.00
R4599:Epor UTSW 9 21,961,859 (GRCm38) missense probably benign 0.00
R5987:Epor UTSW 9 21,962,276 (GRCm38) missense possibly damaging 0.83
R6462:Epor UTSW 9 21,959,255 (GRCm38) missense probably benign 0.05
R7413:Epor UTSW 9 21,963,480 (GRCm38) unclassified probably benign
R8717:Epor UTSW 9 21,959,445 (GRCm38) missense probably benign 0.00
R9053:Epor UTSW 9 21,959,359 (GRCm38) missense probably benign 0.28
R9108:Epor UTSW 9 21,959,579 (GRCm38) missense probably damaging 1.00
R9494:Epor UTSW 9 21,959,226 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-26