|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2|
|Synonyms||C030045D06Rik, 6230420N16Rik, Depdc2|
|Is this an essential gene?||Possibly non essential (E-score: 0.269)|
|Stock #||R0515 (G1)|
|Chromosomal Location||10993465-11303681 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 11199874 bp|
|Amino Acid Change||Glutamine to Leucine at position 1261 (Q1261L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027056 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027056]|
|Predicted Effect||probably damaging
AA Change: Q1261L
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: Q1261L
|Meta Mutation Damage Score||0.2898|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for gene trapped alleles may exhibit abnormal Purkinje cell dendrite morphology, a mild motor coordination defect that progressively worsens with age, hypoactivity, impaired glucose tolerance and/or insulin resistance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prex2||
(F):5'- gggtGGTGGTCTCTCCAACAGTTTT -3'
(R):5'- CAGATGCAGGCAATGGCAGTCATAA -3'
(F):5'- ggtctcactacatgtccctg -3'
(R):5'- TGGCAGTCATAAGGTCACTTACC -3'