|Institutional Source||Beutler Lab|
|Gene Name||CDC42 effector protein (Rho GTPase binding) 3|
|Synonyms||Cep3, UB1, 3200001F04Rik, Borg2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4715 (G1)|
|Chromosomal Location||79334025-79355091 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 79335458 bp (GRCm38)|
|Amino Acid Change||Alanine to Valine at position 11 (A11V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067217 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068958]|
AA Change: A11V
PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: A11V
|Meta Mutation Damage Score||0.0604|
|Coding Region Coverage||
|Validation Efficiency||92% (86/93)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdc42ep3||
(F):5'- CCCGGCAAGAGCTCATAATTC -3'
(R):5'- ATGTAACTGGCTCTCCGGAAAG -3'
(F):5'- GGCAAGAGCTCATAATTCCCTTG -3'
(R):5'- AGATCTCCAAGACCCTGTCTCG -3'