|Institutional Source||Beutler Lab|
|Gene Name||WW domain containing E3 ubiquitin protein ligase 2|
|Essential gene?||Possibly non essential (E-score: 0.311)|
|Stock #||R6175 (G1)|
|Chromosomal Location||107436365-107558595 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 107483407 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Asparagine at position 139 (I139N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000132224 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166615] [ENSMUST00000212205]|
AA Change: I139N
PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: I139N
|Coding Region Coverage||
|Validation Efficiency||97% (85/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased body size, domed skull, short snout, twisted snout and overgrown mandibular incisors. Mice homozygous for a different knock-out allele exhibit increased sensitivity to pIpC-treatment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wwp2||
(F):5'- GCATTGCCATTCAGCACAC -3'
(R):5'- TAACCAAGATGCCTAGCAGAG -3'
(F):5'- TTTCACAAGACATTAGAAAGGGC -3'
(R):5'- GATGCCTAGCAGAGAACCAAGC -3'