|Institutional Source||Beutler Lab|
|Gene Name||diacylglycerol kinase, delta|
|Synonyms||dgkd-2, DGKdelta, AI841987, D330025K09|
|Is this an essential gene?||Probably essential (E-score: 0.824)|
|Stock #||R2044 (G1)|
|Chromosomal Location||87853287-87945180 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 87927691 bp (GRCm38)|
|Amino Acid Change||Arginine to Lysine at position 685 (R685K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027517 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027517]|
AA Change: R685K
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: R685K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (92/94)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are born with open eyelids and reduced body size, develop respiratory distress and die within 24 hrs of birth. Half of mice homozygous for a hypomorphic gene trap allele exhibit abnormal epileptic discharges and seizureswhile 9% of aging homozygotes develop tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dgkd||
(F):5'- CCCACAGTGGACATGTGCATAC -3'
(R):5'- AAGACCCACGGTGCCATAAG -3'
(F):5'- ACAGTGGACATGTGCATACTCTTC -3'
(R):5'- ACGGTGCCATAAGCTCAG -3'