|Institutional Source||Beutler Lab|
|Gene Name||phosphoglycerate kinase 2|
|Synonyms||Tcp-2, Tcp-2, Pgk-2|
|Is this an essential gene?||Probably non essential (E-score: 0.129)|
|Stock #||R4259 (G1)|
|Chromosomal Location||40207018-40208609 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 40207383 bp|
|Amino Acid Change||Threonine to Proline at position 385 (T385P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033585 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033585]|
Crystal Structure of Phosphoglycerate Kinase-2 [X-RAY DIFFRACTION]
Crystal Structure of Phosphoglycerate Kinase-2 bound to 3-phosphoglycerate [X-RAY DIFFRACTION]
Crystal structure of phosphoglycerate kinase-2 bound to atp and 3pg [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: T385P
PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: T385P
|Meta Mutation Damage Score||0.5398|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased male fertility associated with reduced sperm motility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pgk2||
(F):5'- TCACTGCTAGCTCATTACCTGGG -3'
(R):5'- AATTGTGGCCCAAGCAAAGC -3'
(F):5'- ACCTGGGTCTTGATTCATAGTAGAG -3'
(R):5'- CCCAAGCAAAGCTGATAGTTTG -3'