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|Institutional Source||Beutler Lab|
|Gene Name||propionyl-Coenzyme A carboxylase, alpha polypeptide|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6295 (G1)|
|Chromosomal Location||122534324-122891100 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 122658775 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 268 (I268F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038763 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038374]|
|Predicted Effect||probably benign
AA Change: I268F
PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: I268F
|Predicted Effect||noncoding transcript
AA Change: I149F
|Meta Mutation Damage Score||0.2672|
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcca||
(F):5'- GTAGTGAGTCTAATCTGTTCCCCG -3'
(R):5'- AGTCATGGAAGACACTGCTG -3'
(F):5'- CCCGTTTTTCTTAATTAAGCTGAAAC -3'
(R):5'- GCTGGAATTTGAACTCAGGACCTC -3'