|Institutional Source||Beutler Lab|
|Gene Name||ATPase family, AAA domain containing 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.345)|
|Stock #||R0499 (G1)|
|Chromosomal Location||58094044-58135082 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 58103240 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 652 (D652E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153936 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038194] [ENSMUST00000228783]|
AA Change: D976E
PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: D976E
AA Change: D652E
PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||99% (97/98)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atad2||
(F):5'- TGCTTAGGACACTATGTTCACATGCC -3'
(R):5'- CGGTTTGCACTGAGTTATTTATTGCCC -3'
(F):5'- TGTTCACATGCCATATAGAGAACAC -3'
(R):5'- GAGGGTGTTAACTAAAATCTCCCTCC -3'