|Institutional Source||Beutler Lab|
|Gene Name||protein kinase D1|
|Synonyms||Prkcm, Pkcm, PKD1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7256 (G1)|
|Chromosomal Location||50341231-50649098 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 50388342 bp|
|Amino Acid Change||Valine to Alanine at position 534 (V534A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002765 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002765]|
|Predicted Effect||possibly damaging
AA Change: V534A
PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V534A
|Meta Mutation Damage Score||0.0602|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial embryonic lethality. Mice homozygous for a knock-in allele display partial embryonic and perinatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkd1||
(F):5'- TAGCAGCTTCCCTTCAGAGATTCC -3'
(R):5'- TTATGTCTGGAACCAGCAAAAC -3'
(F):5'- GAGATTCCATGTTCTGCCACAAACTG -3'
(R):5'- AAAACCTTCAGCTTTAACTCCCGTTG -3'