|Institutional Source||Beutler Lab|
|Gene Name||carnitine palmitoyltransferase 1a, liver|
|Synonyms||L-CPT I, CPTI, Cpt1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6246 (G1)|
|Chromosomal Location||3323301-3385732 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 3376550 bp|
|Amino Acid Change||Leucine to Proline at position 572 (L572P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025835 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025835]|
|Predicted Effect||probably damaging
AA Change: L572P
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: L572P
|Meta Mutation Damage Score||0.9533|
|Coding Region Coverage||
|Validation Efficiency||100% (78/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display decreased serum glucose and increased serum free fatty acid levels after fasting. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cpt1a||
(F):5'- TGCTGTGCTTCCCCACTAAG -3'
(R):5'- TCATCTGTGATAGGAGCCTGAGAG -3'
(F):5'- TTCCCCACTAAGCAGAGCTG -3'
(R):5'- AACCAAGGGTGATCTGCTCTG -3'