|Institutional Source||Beutler Lab|
|Gene Name||phosphoenolpyruvate carboxykinase 1, cytosolic|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8076 (G1)|
|Chromosomal Location||173153048-173159273 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 173155278 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 238 (N238D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029017 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029017]|
|Predicted Effect||probably damaging
AA Change: N238D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N238D
|Meta Mutation Damage Score||0.8997|
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pck1||
(F):5'- CTTTCCAGATCGAAGGTGGAGG -3'
(R):5'- CCTCAAGTCCCCAGATGTTG -3'
(F):5'- GAGAACCAGAAGTTTCAGGTCCTTC -3'
(R):5'- CAAATTTCCTCCCAGGGT -3'