Incidental Mutation 'IGL01462:Epor'
ID 88015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epor
Ensembl Gene ENSMUSG00000006235
Gene Name erythropoietin receptor
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01462
Quality Score
Status
Chromosome 9
Chromosomal Location 21870193-21874802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21870752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 376 (P376L)
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: P376L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235
AA Change: P376L

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C A 6: 92,871,247 (GRCm39) A30S probably benign Het
Aspg A G 12: 112,089,387 (GRCm39) T392A probably benign Het
Atp8b5 C A 4: 43,368,010 (GRCm39) Q878K possibly damaging Het
Ccdc85a G T 11: 28,526,506 (GRCm39) H339Q probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cog4 C T 8: 111,592,717 (GRCm39) T430M probably benign Het
Col6a5 A G 9: 105,823,274 (GRCm39) Y28H unknown Het
Cth A T 3: 157,610,804 (GRCm39) Y343N probably damaging Het
Dctn3 A T 4: 41,719,854 (GRCm39) L84* probably null Het
Epha5 A T 5: 84,219,092 (GRCm39) I868N probably damaging Het
Ephb2 T C 4: 136,498,681 (GRCm39) N133D possibly damaging Het
Gsdme A G 6: 50,204,354 (GRCm39) V201A possibly damaging Het
Hdgf G A 3: 87,821,831 (GRCm39) E149K possibly damaging Het
Lrrfip2 T C 9: 111,034,917 (GRCm39) probably null Het
Ly6g6d T C 17: 35,293,226 (GRCm39) I40V probably benign Het
Mlh3 G A 12: 85,313,510 (GRCm39) T892I probably benign Het
Mmp19 C T 10: 128,634,011 (GRCm39) T304I probably damaging Het
Mmp28 T C 11: 83,334,602 (GRCm39) D384G possibly damaging Het
Moxd1 T C 10: 24,120,286 (GRCm39) probably null Het
Mtcl3 T G 10: 29,024,254 (GRCm39) L390R probably damaging Het
Ncapg T C 5: 45,828,477 (GRCm39) V76A probably benign Het
Nos1 C T 5: 118,005,774 (GRCm39) R165C probably benign Het
Or1e1c T C 11: 73,265,578 (GRCm39) M1T probably null Het
Or2a57 A G 6: 43,212,559 (GRCm39) T6A possibly damaging Het
Pik3c2a T A 7: 115,975,485 (GRCm39) H694L possibly damaging Het
Psme2 A G 14: 55,827,128 (GRCm39) L60P probably damaging Het
Ptpn23 A G 9: 110,237,175 (GRCm39) V4A probably benign Het
Rgr G T 14: 36,766,566 (GRCm39) T160K probably damaging Het
Serpind1 A G 16: 17,154,787 (GRCm39) I205V probably benign Het
Skap2 T C 6: 51,898,280 (GRCm39) Y150C probably damaging Het
Srsf9 T C 5: 115,470,187 (GRCm39) S122P probably damaging Het
Stox1 T G 10: 62,500,461 (GRCm39) I700L probably benign Het
Tada1 A G 1: 166,216,294 (GRCm39) D165G probably damaging Het
Traf5 A G 1: 191,731,828 (GRCm39) S338P probably benign Het
Trim39 G A 17: 36,574,617 (GRCm39) probably benign Het
Wbp2 G A 11: 115,972,066 (GRCm39) A130V possibly damaging Het
Zcchc17 T C 4: 130,230,902 (GRCm39) K96E probably benign Het
Zfp800 G A 6: 28,242,983 (GRCm39) L661F possibly 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
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
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
Posted On 2013-11-18