|Institutional Source||Beutler Lab|
|Gene Name||alpha-methylacyl-CoA racemase|
|Synonyms||Macr1, 2-arylpropionyl-CoA epimerase|
|Is this an essential gene?||Probably non essential (E-score: 0.119)|
|Stock #||R6362 (G1)|
|Chromosomal Location||10981756-10996626 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 10984805 bp|
|Amino Acid Change||Arginine to Serine at position 170 (R170S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066915 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022853] [ENSMUST00000070877]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: R170S
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: R170S
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null mice display impaired bile acid synthesis and with dietary phytol supplementation develop liver degeneration and induced mortality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Amacr||
(F):5'- CGGCTGTCCTGCTAAGGTATTC -3'
(R):5'- GAGGCTATTTTAAAGCAAAGGACC -3'
(F):5'- CTTGTGTTCACTTAAAAGGGGC -3'
(R):5'- AGGACCTCTTGCCAGACATGTTG -3'