|Institutional Source||Beutler Lab|
|Gene Name||carboxylesterase 2H|
|Is this an essential gene?||Probably non essential (E-score: 0.071)|
|Stock #||R1833 (G1)|
|Chromosomal Location||105000853-105021178 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 105020373 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 547 (E547G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126773 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000172032]|
|Predicted Effect||possibly damaging
AA Change: E547G
PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: E547G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1118|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ces2h||
(F):5'- AGCTCAACAGGGCCTAAAG -3'
(R):5'- GGAACATACATCCTGTAGGGG -3'
(F):5'- AGGGCCTAAAGTAACCTTTGCTC -3'
(R):5'- CATACATCCTGTAGGGGAAACTTC -3'