|Institutional Source||Beutler Lab|
|Gene Name||RAS p21 protein activator 3|
|Synonyms||GAPIII, R-Ras gap, Ras GTPase-activating protein III, GAPIII activator 3, scat|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4807 (G1)|
|Chromosomal Location||13566948-13677603 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 13614633 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 60 (F60L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112998 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000117551] [ENSMUST00000154454]|
|Predicted Effect||probably damaging
AA Change: F60L
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: F60L
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.174|
|Coding Region Coverage||
|Validation Efficiency||98% (86/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rasa3||
(F):5'- GAGATTTGTCATTTCTCCCAGGAC -3'
(R):5'- TCTCAGCTACAGTCAGGTCG -3'
(F):5'- GTCATTTCTCCCAGGACGAGAC -3'
(R):5'- TACAGTCAGGTCGCTGTAACAGTC -3'