|Institutional Source||Beutler Lab|
|Gene Name||3-phosphoglycerate dehydrogenase|
|Synonyms||PGD, 3-PGDH, A10, PGAD, PGDH, SERA, 3PGDH|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2495 (G1)|
|Chromosomal Location||98313170-98339990 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 98339789 bp|
|Amino Acid Change||Leucine to Proline at position 15 (L15P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064755 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065793]|
|Predicted Effect||probably damaging
AA Change: L15P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L15P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7135|
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele die by E13.5 and exhibit abnormal neural development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Phgdh||
(F):5'- CCCGGGACCAACTGATAAGATAG -3'
(R):5'- AGCATTTCTGACCAATCAAAAGGAG -3'
(F):5'- CCAACTGATAAGATAGGGGAGGAC -3'
(R):5'- AAGGAGACTGTTGGCGC -3'