|Institutional Source||Beutler Lab|
|Gene Name||phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.294)|
|Stock #||R4685 (G1)|
|Chromosomal Location||166566342-166713832 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 166638332 bp|
|Amino Acid Change||Valine to Methionine at position 163 (V163M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037180 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036719] [ENSMUST00000099080]|
|Predicted Effect||probably damaging
AA Change: V163M
PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: V163M
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.296|
|Coding Region Coverage||
|Validation Efficiency||97% (71/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have impaired neutrophil migration and autism-like social behavior with defective AMPA-mediated LTD. Mice with other alleles exhibit reduced weight, smaller livers and increased peripheral neutrophil numbers. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prex1||
(F):5'- GGGAATTATCACAGTGTGGGC -3'
(R):5'- CTGGATCTCTTCATCGCGAG -3'
(F):5'- ATTATCACAGTGTGGGCTACAG -3'
(R):5'- AGCCTGGATCCTCTGCAAGAC -3'