Incidental Mutation 'IGL00653:Ces2c'
ID9642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces2c
Ensembl Gene ENSMUSG00000061825
Gene Namecarboxylesterase 2C
SynonymsCes2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL00653
Quality Score
Status
Chromosome8
Chromosomal Location104847068-104854483 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104849736 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 127 (Y127F)
Ref Sequence ENSEMBL: ENSMUSP00000058567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055052]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055052
AA Change: Y127F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: Y127F

DomainStartEndE-ValueType
Pfam:COesterase 11 540 1.5e-173 PFAM
Pfam:Abhydrolase_3 145 278 6.5e-8 PFAM
Pfam:Peptidase_S9 160 293 4e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162970
Coding Region Coverage
Validation Efficiency
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
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano5 T C 7: 51,566,513 S373P probably damaging Het
Ccl8 C T 11: 82,116,602 L88F probably damaging Het
Glp1r T C 17: 30,930,760 S333P probably damaging Het
Mycbp2 T C 14: 103,143,228 N3664S probably damaging Het
N4bp1 T C 8: 86,861,726 S195G probably benign Het
Scaper A T 9: 55,859,859 N429K probably damaging Het
Sparcl1 C T 5: 104,092,922 G212D probably benign Het
Other mutations in Ces2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Ces2c APN 8 104849743 missense probably damaging 1.00
IGL02523:Ces2c APN 8 104848114 missense probably damaging 0.99
IGL03213:Ces2c APN 8 104848040 missense probably benign 0.19
R0050:Ces2c UTSW 8 104848199 missense probably benign 0.25
R0050:Ces2c UTSW 8 104848199 missense probably benign 0.25
R0288:Ces2c UTSW 8 104849744 missense probably benign 0.04
R0506:Ces2c UTSW 8 104848024 missense probably damaging 1.00
R4727:Ces2c UTSW 8 104848040 missense probably benign 0.19
R5995:Ces2c UTSW 8 104850901 missense possibly damaging 0.81
R6271:Ces2c UTSW 8 104852116 missense probably damaging 1.00
R6283:Ces2c UTSW 8 104849699 missense probably benign
R6533:Ces2c UTSW 8 104852093 missense possibly damaging 0.75
R7453:Ces2c UTSW 8 104849670 missense probably benign 0.10
Posted On2012-12-06