Incidental Mutation 'IGL01989:Ces2c'
ID182800
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: 0.073) question?
Stock #IGL01989
Quality Score
Status
Chromosome8
Chromosomal Location104847068-104854483 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 104849743 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 129 (N129K)
Ref Sequence ENSEMBL: ENSMUSP00000058567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055052]
Predicted Effect probably damaging
Transcript: ENSMUST00000055052
AA Change: N129K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058567
Gene: ENSMUSG00000061825
AA Change: N129K

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,986,270 V8D probably damaging Het
Asb15 A G 6: 24,565,944 T299A probably damaging Het
Asph A T 4: 9,602,462 probably benign Het
Cadm3 G A 1: 173,338,011 probably benign Het
Cep164 G A 9: 45,793,015 probably benign Het
Chdh C A 14: 30,031,731 P199Q possibly damaging Het
Dnah7b T C 1: 46,289,534 V3142A probably damaging Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Dock2 G T 11: 34,268,053 N1172K probably benign Het
Dppa5a T A 9: 78,367,821 E66D probably benign Het
F5 A G 1: 164,176,307 S224G probably benign Het
Fign T C 2: 63,980,450 T159A probably benign Het
Fsip2 A T 2: 82,993,867 D6648V probably damaging Het
Gbp2b A T 3: 142,611,440 E519V probably benign Het
Hdac10 A G 15: 89,125,343 L462P probably damaging Het
Hecw2 A G 1: 53,840,792 L1286S probably damaging Het
Hnrnpll A G 17: 80,038,740 V364A probably benign Het
Hnrnpul2 A G 19: 8,823,628 T282A probably damaging Het
Il12a T A 3: 68,691,576 probably benign Het
Insl5 C A 4: 103,026,641 V28L probably benign Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Lrfn2 A G 17: 49,071,085 D398G probably damaging Het
Lrp1 C T 10: 127,578,129 D1137N probably damaging Het
Mettl18 C A 1: 163,996,303 D64E probably benign Het
Mrpl3 A G 9: 105,071,479 T245A probably benign Het
Mrps18c C A 5: 100,801,909 P52Q probably damaging Het
Myh3 A T 11: 67,086,655 D377V probably damaging Het
N4bp1 C A 8: 86,848,487 V727L probably damaging Het
Npffr2 A G 5: 89,582,972 T254A probably benign Het
Nsfl1c C A 2: 151,500,729 T73K probably damaging Het
Olfr160 C T 9: 37,711,836 V148I probably damaging Het
Plxna1 C T 6: 89,329,414 W1442* probably null Het
Serpina3n T A 12: 104,413,491 M381K probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Smtnl1 T C 2: 84,818,470 N147D probably benign Het
Sprr2j-ps T C 3: 92,419,105 S96P unknown Het
Ssh2 A G 11: 77,453,685 E832G possibly damaging Het
Stxbp1 T C 2: 32,812,064 D207G probably benign Het
Sult1c1 A T 17: 53,974,027 M16K probably benign Het
Tmem247 A G 17: 86,918,291 E53G probably damaging Het
Tmem86a A T 7: 47,053,439 I105F probably benign Het
Tph2 A G 10: 115,146,016 S304P probably benign Het
Ttn T C 2: 76,778,539 D17711G probably damaging Het
Urb1 A T 16: 90,769,586 probably benign Het
Vcan T A 13: 89,689,359 I1729L possibly damaging Het
Vmn2r90 T A 17: 17,713,232 Y351* probably null Het
Wfdc5 C T 2: 164,178,731 probably null Het
Wnt3 G A 11: 103,812,407 D239N probably benign Het
Zbtb8b T A 4: 129,432,388 E295V probably damaging Het
Zfp458 T C 13: 67,259,627 T52A probably damaging Het
Other mutations in Ces2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:Ces2c APN 8 104849736 missense possibly damaging 0.92
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 On2014-05-07