|Institutional Source||Beutler Lab|
|Gene Name||CDC42 binding protein kinase beta|
|Is this an essential gene?||Probably essential (E-score: 0.811)|
|Stock #||R0633 (G1)|
|Chromosomal Location||111292976-111377718 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 111345555 bp|
|Amino Acid Change||Isoleucine to Valine at position 108 (I108V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152832 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041965] [ENSMUST00000222196]|
|Predicted Effect||possibly damaging
AA Change: I82V
PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: I82V
|Predicted Effect||probably damaging
AA Change: I108V
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|Coding Region Coverage||
|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'- GTATACAAGAGCAAGCTCCATACCCTG -3'
(R):5'- ACAGCCATCCGTATTCAGAGAAAGC -3'
(F):5'- gaggtggagagtgacagaag -3'
(R):5'- TATTCAGAGAAAGCTGCTAGTGTG -3'