Incidental Mutation 'R6271:Ces2c'
ID 507335
Institutional Source Beutler Lab
Gene Symbol Ces2c
Ensembl Gene ENSMUSG00000061825
Gene Name carboxylesterase 2C
Synonyms Ces2
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 105573700-105581115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105578748 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91WG0
Predicted Effect probably damaging
Transcript: ENSMUST00000055052
AA Change: G342D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: G342D

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: ENSMUST00000162970
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A 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
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
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'- TGGAGGTTACTCAGTAGACATCAG -3'
(R):5'- AGAACAGCCTGCAGGTTCTC -3'

Sequencing Primer
(F):5'- TCAAGATGATCCCTGCTG -3'
(R):5'- TTATCATCTGAGCAGAGCCCATG -3'
Posted On 2018-03-15