|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6294 (G1)|
|Chromosomal Location||121635376-121679227 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 121654481 bp|
|Amino Acid Change||Histidine to Leucine at position 579 (H579L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032203 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032203]|
|Predicted Effect||probably benign
AA Change: H579L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: H579L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in A2m||
(F):5'- AATGGCCAGTTTGGGAAGC -3'
(R):5'- GTGCTTGTCATCTCCAAGGC -3'
(F):5'- ACCATGACAGTTGTCTGACAG -3'
(R):5'- TTGTCATCTCCAAGGCTGACAGG -3'