Incidental Mutation 'IGL02523:Ces2c'
ID 296932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces2c
Ensembl Gene ENSMUSG00000061825
Gene Name carboxylesterase 2C
Synonyms Ces2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02523
Quality Score
Status
Chromosome 8
Chromosomal Location 105573700-105581115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 105574746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 68 (P68T)
Ref Sequence ENSEMBL: ENSMUSP00000058567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055052]
AlphaFold Q91WG0
Predicted Effect probably damaging
Transcript: ENSMUST00000055052
AA Change: P68T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: P68T

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,804,984 (GRCm39) D109G probably benign Het
Csl G A 10: 99,594,675 (GRCm39) T130I probably benign Het
Cyp2g1 C T 7: 26,518,612 (GRCm39) R376W probably damaging Het
Ddb1 T C 19: 10,604,996 (GRCm39) L1029P probably damaging Het
Dennd4c T C 4: 86,692,490 (GRCm39) probably benign Het
Eya2 C T 2: 165,596,356 (GRCm39) probably benign Het
Fars2 G T 13: 36,388,676 (GRCm39) G55V probably damaging Het
Fcgbp C A 7: 27,804,157 (GRCm39) A1755E possibly damaging Het
Ggt7 T A 2: 155,356,623 (GRCm39) E32V probably damaging Het
Heg1 C A 16: 33,558,992 (GRCm39) T1071K probably damaging Het
Hpca A G 4: 129,012,368 (GRCm39) F56S probably damaging Het
Hyal4 T A 6: 24,765,968 (GRCm39) Y441N probably damaging Het
Igsf8 T A 1: 172,146,980 (GRCm39) probably benign Het
Ints13 A G 6: 146,459,109 (GRCm39) S301P probably benign Het
Krt33a G A 11: 99,902,518 (GRCm39) T374I probably benign Het
Nav3 T C 10: 109,605,157 (GRCm39) D972G probably damaging Het
Npc1 T C 18: 12,334,629 (GRCm39) T708A probably benign Het
Or10ag52 A T 2: 87,043,664 (GRCm39) N143Y probably benign Het
Or13p10 A T 4: 118,523,238 (GRCm39) N175Y probably benign Het
Or1l8 T C 2: 36,817,967 (GRCm39) D53G probably damaging Het
Or6d14 A T 6: 116,534,054 (GRCm39) I223L probably benign Het
P2rx2 A G 5: 110,489,908 (GRCm39) S87P probably damaging Het
Pdxdc1 A T 16: 13,699,799 (GRCm39) L62H probably damaging Het
Plekhj1 A T 10: 80,633,683 (GRCm39) probably null Het
Ptbp2 A T 3: 119,534,136 (GRCm39) Y244* probably null Het
Ralbp1 T C 17: 66,166,086 (GRCm39) E366G probably damaging Het
Rergl T A 6: 139,473,458 (GRCm39) probably benign Het
Slc25a45 T A 19: 5,934,637 (GRCm39) probably null Het
Spop G A 11: 95,376,747 (GRCm39) D267N possibly damaging Het
Tars2 T C 3: 95,648,705 (GRCm39) D625G probably damaging Het
Tlk2 A G 11: 105,166,773 (GRCm39) K593R probably damaging Het
Tlr3 T A 8: 45,851,428 (GRCm39) probably null Het
Tmem205 C T 9: 21,832,584 (GRCm39) R109H probably benign Het
Tmem41b A G 7: 109,581,935 (GRCm39) I56T probably damaging Het
Ube2q2 T C 9: 55,099,163 (GRCm39) V168A probably damaging Het
Ufsp2 T A 8: 46,436,585 (GRCm39) M112K probably damaging Het
Wipi2 T A 5: 142,646,787 (GRCm39) V208E probably damaging Het
Xkr9 A G 1: 13,754,474 (GRCm39) E156G 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
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
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 2015-04-16