Incidental Mutation 'R8717:Epor'
ID 669959
Institutional Source Beutler Lab
Gene Symbol Epor
Ensembl Gene ENSMUSG00000006235
Gene Name erythropoietin receptor
Synonyms
MMRRC Submission 068570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8717 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21870193-21874802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21870741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 380 (C380S)
Ref Sequence ENSEMBL: ENSMUSP00000006397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006397] [ENSMUST00000053583] [ENSMUST00000213181]
AlphaFold P14753
Predicted Effect probably benign
Transcript: ENSMUST00000006397
AA Change: C380S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: C380S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,543,958 (GRCm39) F528L probably benign Het
Aadacl3 T G 4: 144,182,778 (GRCm39) D230A probably damaging Het
Adgrf3 T A 5: 30,403,579 (GRCm39) probably benign Het
Agtr1a A C 13: 30,565,357 (GRCm39) T141P probably damaging Het
Ankfy1 T A 11: 72,621,300 (GRCm39) D195E probably benign Het
AY074887 G A 9: 54,857,786 (GRCm39) T113I probably damaging Het
Cacna1c G A 6: 119,034,314 (GRCm39) A71V Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cntrl T A 2: 35,003,351 (GRCm39) V78E probably benign Het
Cyp2c67 T A 19: 39,627,155 (GRCm39) Y225F probably benign Het
Cyp2j13 T A 4: 95,933,777 (GRCm39) H369L probably benign Het
Dagla T C 19: 10,225,587 (GRCm39) E859G probably benign Het
Duox1 C A 2: 122,168,152 (GRCm39) S1092R possibly damaging Het
Elfn2 C A 15: 78,556,561 (GRCm39) S662I probably benign Het
Fsd2 T C 7: 81,190,090 (GRCm39) E564G probably benign Het
Hace1 C T 10: 45,481,694 (GRCm39) T117I unknown Het
Ift172 A G 5: 31,412,985 (GRCm39) M1488T probably benign Het
Insyn1 A G 9: 58,406,623 (GRCm39) T178A probably damaging Het
Kdm3b A G 18: 34,952,840 (GRCm39) E1070G probably damaging Het
Lrp6 A G 6: 134,434,711 (GRCm39) F1331L probably benign Het
Lrrc74a G A 12: 86,783,253 (GRCm39) E33K probably damaging Het
Magel2 T C 7: 62,027,420 (GRCm39) M108T unknown Het
Mief1 T C 15: 80,132,584 (GRCm39) S127P probably benign Het
Mprip T C 11: 59,650,526 (GRCm39) V1410A probably benign Het
Muc1 G A 3: 89,138,821 (GRCm39) V477M possibly damaging Het
Nat8f3 A T 6: 85,738,687 (GRCm39) M25K possibly damaging Het
Neb T G 2: 52,073,781 (GRCm39) H5942P probably damaging Het
Nf2 A T 11: 4,766,099 (GRCm39) Y144N probably damaging Het
Nipbl T A 15: 8,368,225 (GRCm39) M1166L probably benign Het
Npnt A T 3: 132,614,136 (GRCm39) L206Q probably damaging Het
Or10ak13 T C 4: 118,638,996 (GRCm39) Y262C probably damaging Het
Or4g7 A G 2: 111,309,992 (GRCm39) T288A probably damaging Het
Or6c65 T A 10: 129,604,127 (GRCm39) I254N probably damaging Het
Parg A G 14: 31,932,492 (GRCm39) K444R probably benign Het
Pcbp4 A T 9: 106,337,202 (GRCm39) probably null Het
Pcdhgb4 A G 18: 37,853,847 (GRCm39) S81G probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekho2 T C 9: 65,464,058 (GRCm39) N264D probably benign Het
Pmpca T A 2: 26,281,893 (GRCm39) M182K probably damaging Het
Prdm10 A G 9: 31,252,695 (GRCm39) H476R probably benign Het
Prxl2a G A 14: 40,720,836 (GRCm39) P126S possibly damaging Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rbp3 G A 14: 33,678,395 (GRCm39) R781H probably damaging Het
Rngtt T A 4: 33,368,695 (GRCm39) S409R probably damaging Het
Ryr1 C A 7: 28,751,753 (GRCm39) R3680L probably benign Het
Sbno1 T C 5: 124,512,618 (GRCm39) S1384G possibly damaging Het
Shmt1 T C 11: 60,685,763 (GRCm39) D271G probably benign Het
Sin3a C T 9: 57,034,510 (GRCm39) R1228W probably damaging Het
Slc25a39 T C 11: 102,294,620 (GRCm39) R294G probably benign Het
Smcr8 T A 11: 60,670,254 (GRCm39) S467R probably damaging Het
Spaca7 A G 8: 12,636,480 (GRCm39) Y102C probably damaging Het
Tacr1 A G 6: 82,380,706 (GRCm39) Y39C probably damaging Het
Tenm3 G A 8: 48,752,680 (GRCm39) S894L possibly damaging Het
Tmem115 T A 9: 107,415,132 (GRCm39) M307K possibly damaging Het
Tnn A G 1: 159,943,846 (GRCm39) V989A possibly damaging Het
Trabd2b T A 4: 114,460,186 (GRCm39) N441K probably damaging Het
Ttll1 T C 15: 83,373,709 (GRCm39) K368R probably benign Het
Tubgcp2 C T 7: 139,576,705 (GRCm39) V858I probably benign Het
Ufsp2 G T 8: 46,436,614 (GRCm39) V122L probably benign Het
Wdr26 A G 1: 181,011,913 (GRCm39) C470R possibly damaging Het
Xab2 T C 8: 3,663,845 (GRCm39) H358R probably benign Het
Xrcc5 A G 1: 72,422,905 (GRCm39) I697V probably benign 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
R2655:Epor UTSW 9 21,872,016 (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
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'- AGATGCCAGAATCGGACACC -3'
(R):5'- TTGAGGGTCTCTTCACCACC -3'

Sequencing Primer
(F):5'- CCACAAGGTATAGGTACTTCAAGTG -3'
(R):5'- CCACAAGGGTAACTTCCAGGTAG -3'
Posted On 2021-04-30