|Institutional Source||Beutler Lab|
|Gene Name||IQ motif containing GTPase activating protein 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7893 (G1)|
|Chromosomal Location||95627177-95891922 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 95689709 bp|
|Amino Acid Change||Alanine to Valine at position 535 (A535V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067685 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068603]|
|Predicted Effect||probably damaging
AA Change: A535V
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: A535V
|Meta Mutation Damage Score||0.1707|
|Coding Region Coverage||
|Validation Efficiency||99% (70/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Iqgap2||
(F):5'- CGATAACACCTGGTTACTGGG -3'
(R):5'- ACCTAGTGCTTGCTGAATAAGAAG -3'
(F):5'- CAGGGCAACTAGCTAGTGAC -3'
(R):5'- GTAGGAGGTGATGATAAAATGACTCC -3'