Incidental Mutation 'R0050:Ces2c'
ID 16005
Institutional Source Beutler Lab
Gene Symbol Ces2c
Ensembl Gene ENSMUSG00000061825
Gene Name carboxylesterase 2C
Synonyms Ces2
MMRRC Submission 038344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0050 (G1)
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 105573700-105581115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105574831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 96 (M96K)
Ref Sequence ENSEMBL: ENSMUSP00000058567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055052]
AlphaFold Q91WG0
Predicted Effect probably benign
Transcript: ENSMUST00000055052
AA Change: M96K

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: M96K

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
Meta Mutation Damage Score 0.0764 question?
Coding Region Coverage
  • 1x: 88.6%
  • 3x: 85.4%
  • 10x: 76.7%
  • 20x: 62.7%
Validation Efficiency 90% (86/96)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,069,910 (GRCm39) probably benign Het
Abca9 C T 11: 110,036,417 (GRCm39) C564Y probably damaging Het
Abhd14a A T 9: 106,318,082 (GRCm39) probably benign Het
Acnat2 G A 4: 49,380,586 (GRCm39) T264I probably benign Het
Adamts2 T C 11: 50,666,222 (GRCm39) V406A probably damaging Het
Adcy5 A G 16: 35,124,673 (GRCm39) probably benign Het
Akr1c13 T C 13: 4,244,669 (GRCm39) probably benign Het
Ankar T A 1: 72,695,323 (GRCm39) E1093D probably damaging Het
Arhgef38 C A 3: 132,837,957 (GRCm39) D75Y probably damaging Het
Asns T C 6: 7,676,019 (GRCm39) I484V probably benign Het
Astn1 T C 1: 158,407,294 (GRCm39) probably benign Het
Atg4b T A 1: 93,715,440 (GRCm39) probably benign Het
Cadm2 A G 16: 66,750,154 (GRCm39) probably benign Het
Cpd T A 11: 76,683,685 (GRCm39) T1025S possibly damaging Het
Daw1 T C 1: 83,158,086 (GRCm39) V45A probably benign Het
Dmrt3 C A 19: 25,599,953 (GRCm39) P266H probably damaging Het
Dnah10 A G 5: 124,907,808 (GRCm39) T4416A probably benign Het
Dock9 A G 14: 121,844,637 (GRCm39) V1124A probably benign Het
Ermp1 C A 19: 29,606,184 (GRCm39) A190S probably damaging Het
Gm10267 T A 18: 44,289,520 (GRCm39) probably benign Het
Golga2 T A 2: 32,182,139 (GRCm39) V29D probably damaging Het
Gprc6a T A 10: 51,491,485 (GRCm39) M755L probably damaging Het
H1f8 G T 6: 115,924,729 (GRCm39) K78N probably damaging Het
Lama1 A T 17: 68,089,051 (GRCm39) D1574V possibly damaging Het
Lama3 T A 18: 12,537,160 (GRCm39) H268Q probably damaging Het
Lmntd1 T C 6: 145,363,202 (GRCm39) D107G probably damaging Het
Lrriq1 A G 10: 102,904,792 (GRCm39) V1614A probably damaging Het
Mmp12 A G 9: 7,350,152 (GRCm39) probably benign Het
Mre11a A G 9: 14,742,269 (GRCm39) probably benign Het
Mtrf1l T C 10: 5,765,553 (GRCm39) silent Het
Oaz2 A G 9: 65,595,084 (GRCm39) E61G probably damaging Het
Parp3 A T 9: 106,348,600 (GRCm39) D473E possibly damaging Het
Pear1 G T 3: 87,663,294 (GRCm39) Y441* probably null Het
Pkhd1l1 A T 15: 44,437,203 (GRCm39) T3493S possibly damaging Het
Ppp3cb A G 14: 20,581,820 (GRCm39) V65A possibly damaging Het
Rheb A T 5: 25,022,832 (GRCm39) probably benign Het
Ros1 G A 10: 51,977,899 (GRCm39) T1449M probably damaging Het
Scn4a C G 11: 106,211,682 (GRCm39) R1445P probably damaging Het
Sema3d T A 5: 12,634,920 (GRCm39) M662K probably benign Het
Skp2 A G 15: 9,125,178 (GRCm39) F134L probably benign Het
Slc6a12 T C 6: 121,337,378 (GRCm39) probably benign Het
Slc8a3 T C 12: 81,362,039 (GRCm39) Y260C probably damaging Het
Spin1 T A 13: 51,304,454 (GRCm39) probably benign Het
Stx2 A G 5: 129,076,572 (GRCm39) probably null Het
Sycp2 A T 2: 178,006,504 (GRCm39) V863D probably damaging Het
Tgfb3 T A 12: 86,116,658 (GRCm39) I127F possibly damaging Het
Tgif1 T G 17: 71,157,879 (GRCm39) K2Q probably damaging Het
Trmt2a A T 16: 18,068,707 (GRCm39) E234D probably damaging Het
Trps1 A T 15: 50,628,921 (GRCm39) S696T probably benign Het
Ucp1 A G 8: 84,020,857 (GRCm39) E191G probably damaging Het
Usp48 C A 4: 137,341,114 (GRCm39) D371E probably damaging Het
Usp54 A T 14: 20,623,823 (GRCm39) probably benign Het
Other mutations in Ces2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:Ces2c APN 8 105,576,368 (GRCm39) missense possibly damaging 0.92
IGL01989:Ces2c APN 8 105,576,375 (GRCm39) missense probably damaging 1.00
IGL02523:Ces2c APN 8 105,574,746 (GRCm39) missense probably damaging 0.99
IGL03213:Ces2c APN 8 105,574,672 (GRCm39) missense probably benign 0.19
R0050:Ces2c UTSW 8 105,574,831 (GRCm39) missense probably benign 0.25
R0288:Ces2c UTSW 8 105,576,376 (GRCm39) missense probably benign 0.04
R0506:Ces2c UTSW 8 105,574,656 (GRCm39) missense probably damaging 1.00
R4727:Ces2c UTSW 8 105,574,672 (GRCm39) missense probably benign 0.19
R5995:Ces2c UTSW 8 105,577,533 (GRCm39) missense possibly damaging 0.81
R6271:Ces2c UTSW 8 105,578,748 (GRCm39) missense probably damaging 1.00
R6283:Ces2c UTSW 8 105,576,331 (GRCm39) missense probably benign
R6533:Ces2c UTSW 8 105,578,725 (GRCm39) missense possibly damaging 0.75
R7453:Ces2c UTSW 8 105,576,302 (GRCm39) missense probably benign 0.10
R8403:Ces2c UTSW 8 105,574,714 (GRCm39) missense probably damaging 1.00
R9684:Ces2c UTSW 8 105,574,699 (GRCm39) missense probably benign 0.27
R9753:Ces2c UTSW 8 105,580,249 (GRCm39) missense probably benign 0.01
Posted On 2013-01-08