|Institutional Source||Beutler Lab|
|Gene Name||ATPase family, AAA domain containing 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.488)|
|Stock #||R6209 (G1)|
|Chromosomal Location||58094044-58135082 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 58118415 bp|
|Amino Acid Change||Serine to Proline at position 18 (S18P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153936 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038194] [ENSMUST00000228783]|
|Predicted Effect||possibly damaging
AA Change: S342P
PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: S342P
|Predicted Effect||noncoding transcript
|Predicted Effect||probably damaging
AA Change: S18P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Coding Region Coverage||
|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'- TCACCGTAGAACTCATCCATTC -3'
(R):5'- TTCTCAAAACCCTAGCGATCATTTG -3'
(F):5'- TGTTGAGATCAGGCTTACCAC -3'
(R):5'- CAAAACCCTAGCGATCATTTGTATTG -3'