|Institutional Source||Beutler Lab|
|Gene Name||CDC42 binding protein kinase beta|
|Is this an essential gene?||Possibly essential (E-score: 0.738)|
|Stock #||R4659 (G1)|
|Chromosomal Location||111292976-111377718 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 111339891 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 152 (D152G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152832 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041965] [ENSMUST00000222196]|
|Predicted Effect||possibly damaging
AA Change: D126G
PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: D126G
|Predicted Effect||probably damaging
AA Change: D152G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Meta Mutation Damage Score||0.8687|
|Coding Region Coverage||
|Validation Efficiency||96% (74/77)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdc42bpb||
(F):5'- CGTACTGACAATGGCCACTC -3'
(R):5'- GAAGAGCACAGAGACTTCAGTC -3'
(F):5'- GGCCACTCCACACTGTCTG -3'
(R):5'- CTGCAGAAGCTGTTGGGGAC -3'