|Institutional Source||Beutler Lab|
|Gene Name||adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2217 (G1)|
|Chromosomal Location||83600033-83648738 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 83608737 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Leucine at position 472 (F472L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020500 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020500]|
AA Change: F472L
PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: F472L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele display altered red blood cell physiology. Mutant MEFs exhibit defects in HGF-induced Akt activation, migration, and invasion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Appl2||
(F):5'- TGGTATGGCTAAAGCTAAAATGGC -3'
(R):5'- ATTCCTTGACCAGAACAGGGG -3'
(F):5'- TGGCTAAAGCTAAAATGGCCTTCC -3'
(R):5'- CAGGGGTGGCAGGTAATACC -3'