Incidental Mutation 'R7699:Epo'
ID 647868
Institutional Source Beutler Lab
Gene Symbol Epo
Ensembl Gene ENSMUSG00000029711
Gene Name erythropoietin
Synonyms
MMRRC Submission 045760-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7699 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137481282-137484078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137483438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 5 (E5D)
Ref Sequence ENSEMBL: ENSMUSP00000031723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031723] [ENSMUST00000111038] [ENSMUST00000111039]
AlphaFold P07321
Predicted Effect probably benign
Transcript: ENSMUST00000031723
AA Change: E5D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031723
Gene: ENSMUSG00000029711
AA Change: E5D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:EPO_TPO 29 192 1.4e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111038
AA Change: E5D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106667
Gene: ENSMUSG00000029711
AA Change: E5D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:EPO_TPO 30 191 2.8e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111039
AA Change: E5D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106668
Gene: ENSMUSG00000029711
AA Change: E5D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:EPO_TPO 29 191 9.1e-89 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: This gene encodes the glycoprotein hormone erythropoietin that regulates the production of red blood cells and biosynthesis of hemoglobin. The predominant expression of this gene shifts from the liver during fetal development to kidney in adults. A complete lack of the encoded protein causes embryonic lethal anemia in mice. The conditional inactivation of this gene in adult mice results in a chronic, normocytic and normochromic anemia. Transgenic mice expressing the human ortholog of this gene exhibit polycythemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced primitive erythropoiesis and die around embryonic day 13 due to impaired fetal liver erythropoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,070,792 (GRCm39) P638T probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bcl2l2 C T 14: 55,121,836 (GRCm39) probably benign Het
Cacna1e A T 1: 154,319,674 (GRCm39) I1404N probably damaging Het
Cdc42se1 A G 3: 95,139,908 (GRCm39) N35D probably damaging Het
Cep290 A G 10: 100,376,231 (GRCm39) S1447G probably benign Het
Chd6 T A 2: 160,867,863 (GRCm39) H436L probably benign Het
Cnbd2 T C 2: 156,217,326 (GRCm39) V605A probably benign Het
Col22a1 T A 15: 71,845,700 (GRCm39) D354V probably damaging Het
Col25a1 T A 3: 130,316,128 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,514,734 (GRCm39) M1L possibly damaging Het
Cux1 A T 5: 136,514,593 (GRCm39) probably null Het
Cylc2 T A 4: 51,229,335 (GRCm39) S226T unknown Het
Cyp4b1 T C 4: 115,499,162 (GRCm39) D68G probably benign Het
Dicer1 A C 12: 104,671,429 (GRCm39) L947R probably damaging Het
Dmp1 T C 5: 104,359,590 (GRCm39) S89P probably damaging Het
Dpf1 A G 7: 29,011,032 (GRCm39) K144E possibly damaging Het
Emc1 T A 4: 139,082,181 (GRCm39) H94Q probably benign Het
Ep300 C T 15: 81,470,594 (GRCm39) probably benign Het
Epha10 T C 4: 124,796,440 (GRCm39) I383T Het
Esp15 G A 17: 39,955,624 (GRCm39) V64I possibly damaging Het
Fbxl18 A T 5: 142,871,504 (GRCm39) V577E probably damaging Het
Fhl4 A T 10: 84,934,113 (GRCm39) C223S probably damaging Het
Fhl4 A T 10: 84,934,379 (GRCm39) I134N probably benign Het
Frmpd2 G T 14: 33,264,895 (GRCm39) M891I probably benign Het
Gk2 T C 5: 97,604,257 (GRCm39) I194V probably benign Het
Glt8d2 A C 10: 82,498,122 (GRCm39) probably null Het
Gm12886 G C 4: 121,273,876 (GRCm39) H113Q possibly damaging Het
Hycc1 A G 5: 24,120,494 (GRCm39) S345P probably damaging Het
Ighv1-36 A T 12: 114,843,646 (GRCm39) Y71* probably null Het
Il18bp A G 7: 101,666,029 (GRCm39) W50R probably damaging Het
Jmjd1c T A 10: 67,054,195 (GRCm39) I33K probably benign Het
Lama5 C T 2: 179,822,654 (GRCm39) A2833T probably damaging Het
Manea T G 4: 26,340,758 (GRCm39) N68T probably benign Het
Map1a T C 2: 121,130,201 (GRCm39) L339P probably damaging Het
Mblac1 A C 5: 138,192,919 (GRCm39) D87A probably damaging Het
Mmp24 C T 2: 155,640,096 (GRCm39) T142I probably damaging Het
Mpp2 T A 11: 101,950,261 (GRCm39) H531L probably damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Mx1 T A 16: 97,249,521 (GRCm39) I339F unknown Het
Naip2 G A 13: 100,296,877 (GRCm39) T1053I probably benign Het
Nckap1l A G 15: 103,371,248 (GRCm39) probably null Het
Or51f23c-ps1 A G 7: 102,431,529 (GRCm39) Y282C possibly damaging Het
Or5an1b T C 19: 12,299,841 (GRCm39) T117A probably benign Het
Otud7b T C 3: 96,063,280 (GRCm39) F840L probably damaging Het
Pdzd8 T C 19: 59,333,373 (GRCm39) Y216C probably damaging Het
Pkd1l1 T A 11: 8,915,142 (GRCm39) I133F Het
Plaur A G 7: 24,173,692 (GRCm39) N221S possibly damaging Het
Plin4 T C 17: 56,410,828 (GRCm39) T1068A probably benign Het
Plxnd1 T C 6: 115,936,755 (GRCm39) D1659G probably damaging Het
Prpf8 T A 11: 75,391,022 (GRCm39) M1357K probably benign Het
Prr36 G T 8: 4,263,989 (GRCm39) T559N unknown Het
Prss46 A G 9: 110,678,622 (GRCm39) M2V probably benign Het
Rbpms T A 8: 34,354,391 (GRCm39) E51D probably damaging Het
Rere C T 4: 150,701,555 (GRCm39) R328W Het
Retnla T A 16: 48,663,176 (GRCm39) N26K probably benign Het
Rubcnl G A 14: 75,269,404 (GRCm39) V21I probably benign Het
Safb T A 17: 56,908,504 (GRCm39) S598R unknown Het
Sertad4 A G 1: 192,529,175 (GRCm39) S214P possibly damaging Het
Sin3a C T 9: 57,017,938 (GRCm39) Q786* probably null Het
Slc8a3 A C 12: 81,361,247 (GRCm39) L524W probably damaging Het
Sp3 T C 2: 72,801,573 (GRCm39) T191A probably benign Het
Sp9 T C 2: 73,103,724 (GRCm39) S93P probably damaging Het
Tbrg1 A C 9: 37,560,771 (GRCm39) H368Q probably benign Het
Tinagl1 T G 4: 130,061,832 (GRCm39) Q198H probably benign Het
Usp19 C T 9: 108,373,371 (GRCm39) R648* probably null Het
Vmn2r124 A G 17: 18,293,985 (GRCm39) M691V probably benign Het
Vmn2r2 T A 3: 64,024,536 (GRCm39) M682L possibly damaging Het
Vps13d T A 4: 144,811,975 (GRCm39) H3344L Het
Vwa3a G A 7: 120,351,841 (GRCm39) G35E probably damaging Het
Zfhx3 A G 8: 109,677,754 (GRCm39) S2935G probably benign Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp758 C A 17: 22,594,646 (GRCm39) Y377* probably null Het
Zfp952 A G 17: 33,220,983 (GRCm39) K67R possibly damaging Het
Other mutations in Epo
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1644:Epo UTSW 5 137,481,417 (GRCm39) missense possibly damaging 0.94
R2029:Epo UTSW 5 137,483,447 (GRCm39) splice site probably benign
R7450:Epo UTSW 5 137,481,497 (GRCm39) missense probably damaging 0.98
R9377:Epo UTSW 5 137,484,017 (GRCm39) start gained probably benign
R9496:Epo UTSW 5 137,482,401 (GRCm39) missense probably benign 0.44
Z1177:Epo UTSW 5 137,483,994 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCAGATCCCTGAGAACCAGTTTC -3'
(R):5'- TTTGGCCGAGAAGTGGATGC -3'

Sequencing Primer
(F):5'- CTGAGAACCAGTTTCTTTCTTTTGTG -3'
(R):5'- CGAGAAGTGGATGCCGGTC -3'
Posted On 2020-09-02