Incidental Mutation 'R0288:Ces2c'
ID 24729
Institutional Source Beutler Lab
Gene Symbol Ces2c
Ensembl Gene ENSMUSG00000061825
Gene Name carboxylesterase 2C
Synonyms Ces2
MMRRC Submission 038507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0288 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105573700-105581115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105576376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 130 (I130V)
Ref Sequence ENSEMBL: ENSMUSP00000058567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055052]
AlphaFold Q91WG0
Predicted Effect probably benign
Transcript: ENSMUST00000055052
AA Change: I130V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: I130V

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
Meta Mutation Damage Score 0.0699 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.7%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,766,568 (GRCm39) E413G possibly damaging Het
Amigo2 G T 15: 97,143,560 (GRCm39) N287K probably damaging Het
Ankle2 T A 5: 110,384,256 (GRCm39) I260K probably damaging Het
Apob C T 12: 8,040,779 (GRCm39) R635* probably null Het
Camkv A G 9: 107,823,555 (GRCm39) Y153C probably damaging Het
Capn9 A G 8: 125,327,230 (GRCm39) probably benign Het
Cfap44 T A 16: 44,236,257 (GRCm39) probably benign Het
Cfhr3 A G 1: 139,525,425 (GRCm39) noncoding transcript Het
Chmp1a G T 8: 123,934,745 (GRCm39) D70E probably damaging Het
Coil G A 11: 88,872,694 (GRCm39) G352R probably damaging Het
Colq T C 14: 31,265,949 (GRCm39) E188G possibly damaging Het
Cyfip2 A G 11: 46,144,799 (GRCm39) F685S possibly damaging Het
Cyp4f39 A G 17: 32,711,410 (GRCm39) N519S probably benign Het
Dennd1c A T 17: 57,383,870 (GRCm39) probably null Het
Dnah9 A T 11: 65,915,960 (GRCm39) probably null Het
Dnmbp T C 19: 43,890,898 (GRCm39) T290A possibly damaging Het
Dsc2 T C 18: 20,166,177 (GRCm39) D818G probably damaging Het
Gnptab G A 10: 88,268,967 (GRCm39) V557I probably benign Het
Hdac4 A T 1: 91,898,728 (GRCm39) H675Q probably damaging Het
Kcnk3 T C 5: 30,745,764 (GRCm39) M35T probably benign Het
Kif1b A T 4: 149,283,795 (GRCm39) I1290N probably damaging Het
Klhl14 G A 18: 21,698,620 (GRCm39) R398W probably damaging Het
Marveld1 T C 19: 42,136,265 (GRCm39) F60L probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Ndst3 A T 3: 123,465,843 (GRCm39) V43D probably benign Het
Nhsl1 A G 10: 18,399,794 (GRCm39) D306G probably damaging Het
Nlrp2 A G 7: 5,331,544 (GRCm39) V284A probably benign Het
Pcdhb15 T C 18: 37,608,451 (GRCm39) V561A probably damaging Het
Pdcl2 T C 5: 76,460,344 (GRCm39) I177V possibly damaging Het
Pkd1l3 G A 8: 110,373,131 (GRCm39) probably null Het
Pla2g6 A C 15: 79,171,106 (GRCm39) probably benign Het
Plekhj1 A T 10: 80,632,444 (GRCm39) I122N probably damaging Het
Pmel T C 10: 128,550,175 (GRCm39) I70T probably benign Het
Psip1 T C 4: 83,383,196 (GRCm39) D273G probably damaging Het
Rictor A G 15: 6,816,021 (GRCm39) I1098V probably benign Het
Rif1 T C 2: 52,000,025 (GRCm39) S1160P probably damaging Het
Rsbn1l T C 5: 21,125,038 (GRCm39) I255V probably damaging Het
Slc15a5 A G 6: 137,994,914 (GRCm39) probably benign Het
Slc29a1 G A 17: 45,900,730 (GRCm39) R111W probably damaging Het
Slc36a1 G A 11: 55,109,913 (GRCm39) A74T probably damaging Het
Slc5a7 A T 17: 54,600,046 (GRCm39) Y122* probably null Het
Slc6a3 G T 13: 73,709,047 (GRCm39) G324W probably damaging Het
Sltm T C 9: 70,486,633 (GRCm39) S433P probably damaging Het
Spta1 T C 1: 174,070,745 (GRCm39) S2190P probably damaging Het
Sry A T Y: 2,662,818 (GRCm39) F281I unknown Het
Stk32a T A 18: 43,438,060 (GRCm39) probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbl3 G A 17: 24,920,781 (GRCm39) H612Y probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Top2a A G 11: 98,907,249 (GRCm39) probably benign Het
Usp9y A T Y: 1,333,606 (GRCm39) probably benign Het
Vldlr G A 19: 27,218,051 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r28 A G 7: 5,491,020 (GRCm39) L409P probably damaging Het
Vps13c T C 9: 67,834,648 (GRCm39) V1659A probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zfp280d A T 9: 72,238,621 (GRCm39) K646* probably null Het
Zfp36 A G 7: 28,077,666 (GRCm39) S81P probably benign Het
Zfp618 A T 4: 63,051,171 (GRCm39) T651S possibly damaging 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
R0050:Ces2c UTSW 8 105,574,831 (GRCm39) missense probably benign 0.25
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
Predicted Primers PCR Primer
(F):5'- ACCAGCTTTACTGGTGTACGTGGC -3'
(R):5'- GGCTGAGATGGTCTTCTTTGACCC -3'

Sequencing Primer
(F):5'- GTATTCACAGGTTGAACATGGC -3'
(R):5'- CTTCTTTGACCCAAGAAAGGTAAGAC -3'
Posted On 2013-04-16