|Institutional Source||Beutler Lab|
|Gene Name||hydroxyacid oxidase 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1298 (G1)|
|Chromosomal Location||98874521-98893239 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 98883669 bp|
|Amino Acid Change||Threonine to Lysine at position 63 (T63K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029464 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029464]|
|Predicted Effect||possibly damaging
AA Change: T63K
PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: T63K
|Meta Mutation Damage Score||0.3113|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Electrophoretic variants are known for this locus in kidney. The a allele determines a slow anodally migrating band in all inbred strains tested; the b allele determines a fast band in M. m. castaneus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hao2||
(F):5'- TGTAAGAGGTCCTGATGCTCCCTAC -3'
(R):5'- TGGGCAAAGATACCCTGGAAAGTTG -3'
(F):5'- TACCACTTATCTGGGCGAGAAC -3'
(R):5'- GATACCCTGGAAAGTTGCCTACTC -3'