|Institutional Source||Beutler Lab|
|Gene Name||glycine decarboxylase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8503 (G1)|
|Chromosomal Location||30098449-30175418 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 30099854 bp|
|Amino Acid Change||Valine to Isoleucine at position 973 (V973I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025778 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025778]|
|Predicted Effect||probably benign
AA Change: V973I
PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: V973I
|Coding Region Coverage||
|Validation Efficiency||96% (50/52)|
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'- AATGAGCTCAGATGACCCTTGAG -3'
(R):5'- CGTGTCACTGTGTGCATAATG -3'
(F):5'- CTTGAGGGCTGTCTGACTCC -3'
(R):5'- CGTGTCACTGTGTGCATAATGTAAAC -3'