|Institutional Source||Beutler Lab|
|Gene Name||WW, C2 and coiled-coil domain containing 2|
|Is this an essential gene?||Probably non essential (E-score: 0.103)|
|Stock #||R6712 (G1)|
|Chromosomal Location||47823959-47990924 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 47900803 bp|
|Amino Acid Change||Methionine to Leucine at position 99 (M99L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056121 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057561]|
|Predicted Effect||probably benign
AA Change: M99L
PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: M99L
|Predicted Effect||noncoding transcript
|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 WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wwc2||
(F):5'- ACAGGAGTGTGAGTGACTGTC -3'
(R):5'- TTAGACCAGTCACTTCTTAGGC -3'
(F):5'- GCTTCAGCTGTGGAGTATGAACC -3'
(R):5'- ACTTCTTAGGCGTTTCCAGCAGG -3'