|Institutional Source||Beutler Lab|
|Gene Name||carboxylesterase 2C|
|Is this an essential gene?||Probably non essential (E-score: 0.068)|
|Stock #||R6271 (G1)|
|Chromosomal Location||104847068-104854483 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 104852116 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 342 (G342D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058567 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055052]|
|Predicted Effect||probably damaging
AA Change: G342D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G342D
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. The transcription of this gene is regulated by several factors including HNF-4alpha (hepatocyte nuclear factor-4alpha), Sp1 (specificity protein 1), Sp3 and USF1 (upstream stimulatory factor 1). The expression and activity of this gene is age-related but independent of growth hormone level. This gene is clustered with several family members including a few of pseudogenes and Ces5 on chromosome 8.[provided by RefSeq, Jun 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ces2c||
(F):5'- TGGAGGTTACTCAGTAGACATCAG -3'
(R):5'- AGAACAGCCTGCAGGTTCTC -3'
(F):5'- TCAAGATGATCCCTGCTG -3'
(R):5'- TTATCATCTGAGCAGAGCCCATG -3'