|Institutional Source||Beutler Lab|
|Gene Name||glycine decarboxylase|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R4191 (G1)|
|Chromosomal Location||30098449-30175418 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 30145658 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glycine at position 279 (E279G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025778 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025778]|
AA Change: E279G
PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: E279G
|Meta Mutation Damage Score||0.3399|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]
PHENOTYPE: Hypomorphic mutants show a developmental delay, hyperglycinemia, altered folate profiles, neural tube defects and postnatal lethality, while survivors show hydrocephaly and premature death. Homozygotes for an ENU allele show omphalocele and severe cardiovascular, craniofacial, renal and eye defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gldc||
(F):5'- ACCAGGGATCAGTGAGTGAC -3'
(R):5'- ATGAACATGTCACACGTGCG -3'
(F):5'- CCAGGGATCAGTGAGTGACAGTAAC -3'
(R):5'- GACACACACAGACACACGGG -3'