|Institutional Source||Beutler Lab|
|Gene Name||CD2-associated protein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7402 (G1)|
|Chromosomal Location||42792951-42876424 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 42805163 bp|
|Amino Acid Change||Histidine to Arginine at position 602 (H602R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024709 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024709]|
Third SH3 domain of CD2AP [SOLUTION NMR]
RDC refined solution structure of the first SH3 domain of CD2AP [SOLUTION NMR]
High resolution structure of the second SH3 domain of CD2AP [SOLUTION NMR]
RDC refined high resolution structure of the third SH3 domain of CD2AP [SOLUTION NMR]
Distinct ubiquitin binding modes exhibited by sh3 domains: molecular determinants and functional implications [SOLUTION NMR]
Distinct ubiquitin binding modes exhibited by SH3 domains: molecular determinants and functional implications [SOLUTION NMR]
|Predicted Effect||possibly damaging
AA Change: H602R
PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: H602R
|Coding Region Coverage||
FUNCTION: This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. The mouse genome contains at least two pseudogenes located on chromosomes 9 and 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd2ap||
(F):5'- CGGAGTTACTGGAGCAAGTTTTC -3'
(R):5'- ACCATCCTGGACTACATGTGGTC -3'
(F):5'- TGGAGCAAGTTTTCCCACCAAG -3'
(R):5'- GTGGTCCTGTGTTAAAAATGAAAACC -3'