|Institutional Source||Beutler Lab|
|Gene Name||2,3-bisphosphoglycerate mutase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7531 (G1)|
|Chromosomal Location||34476207-34505613 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 34504288 bp|
|Amino Acid Change||Isoleucine to Valine at position 207 (I207V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047393 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045372]|
|Predicted Effect||possibly damaging
AA Change: I207V
PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: I207V
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bpgm||
(F):5'- GGAACGTTCAATTCCAAGACCTAG -3'
(R):5'- AAACTCGTTCCTGGCCACAC -3'
(F):5'- AAGACCTAGCACTCTGTCTAGTC -3'
(R):5'- GGCCACACTTTATTGTTTGCC -3'