Incidental Mutation 'IGL00813:Epor'
ID12604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epor
Ensembl Gene ENSMUSG00000006235
Gene Nameerythropoietin receptor
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00813
Quality Score
Status
Chromosome9
Chromosomal Location21958897-21963506 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21960591 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 253 (T253A)
Ref Sequence ENSEMBL: ENSMUSP00000006397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006397] [ENSMUST00000053583] [ENSMUST00000213181]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006397
AA Change: T253A

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: T253A

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
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,353,762 probably null Het
Aco1 T C 4: 40,180,290 probably null Het
Bloc1s5 T C 13: 38,619,182 N76S probably damaging Het
Cyp3a44 A T 5: 145,774,347 *505R probably null Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Gm884 A C 11: 103,614,498 F2215V probably benign Het
Hecw1 T A 13: 14,278,376 probably null Het
Hhla1 A T 15: 65,941,961 V209E probably damaging Het
Ino80d G A 1: 63,093,303 P67L probably damaging Het
Lysmd3 C A 13: 81,665,242 N76K probably damaging Het
Map10 G A 8: 125,671,932 R688Q probably benign Het
Mars A T 10: 127,300,047 M554K probably damaging Het
Mgat5 G A 1: 127,384,806 M227I probably benign Het
Nup210l A G 3: 90,132,418 I389V probably benign Het
Ppp1r16b A G 2: 158,756,965 K315R probably damaging Het
Rae1 A G 2: 173,006,933 D114G probably damaging Het
Rbms1 T C 2: 60,797,705 K64E probably damaging Het
Shox2 C A 3: 66,975,444 Q105H probably damaging Het
Simc1 C A 13: 54,546,986 F293L probably damaging Het
Slc11a1 A G 1: 74,383,480 I289V probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stk32a T A 18: 43,310,520 V254E probably benign Het
Them5 A G 3: 94,343,288 K53E probably damaging Het
Tmem67 T C 4: 12,058,587 probably benign Het
Wdr7 T A 18: 63,735,604 L248Q possibly damaging Het
Other mutations in Epor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Epor APN 9 21959297 missense probably damaging 1.00
IGL01400:Epor APN 9 21959439 unclassified probably null
IGL01462:Epor APN 9 21959456 missense probably damaging 1.00
R1741:Epor UTSW 9 21959771 missense probably damaging 1.00
R1983:Epor UTSW 9 21959400 missense probably benign 0.00
R2414:Epor UTSW 9 21959489 missense probably damaging 1.00
R2655:Epor UTSW 9 21960720 missense probably damaging 1.00
R2879:Epor UTSW 9 21959640 missense probably damaging 1.00
R4598:Epor UTSW 9 21961859 missense probably benign 0.00
R4599:Epor UTSW 9 21961859 missense probably benign 0.00
R5987:Epor UTSW 9 21962276 missense possibly damaging 0.83
R6462:Epor UTSW 9 21959255 missense probably benign 0.05
R7182:Epor UTSW 9 21963329 missense probably benign 0.01
R7413:Epor UTSW 9 21963480 unclassified probably benign
Posted On2012-12-06