|Institutional Source||Beutler Lab|
|Gene Name||phosphoglucomutase 2|
|Is this an essential gene?||Possibly essential (E-score: 0.724)|
|Stock #||R6892 (G1)|
|Chromosomal Location||99929414-99987294 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 99929708 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 48 (E48G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061227 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058351]|
|Predicted Effect||probably benign
AA Change: E48G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: E48G
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pgm2||
(F):5'- TTTCCAGGGCAAGAGCAGAG -3'
(R):5'- GCATAGCCATTGCGAAACG -3'
(F):5'- TCTGCAGCAGCCAGAGC -3'
(R):5'- CCATTGCGAAACGTGGGGTG -3'