Incidental Mutation 'R0138:Ces2h'
ID 22112
Institutional Source Beutler Lab
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
MMRRC Submission 038423-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0138 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 105727462-105747042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105744693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 357 (D357G)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably benign
Transcript: ENSMUST00000172032
AA Change: D357G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: D357G

DomainStartEndE-ValueType
Pfam:COesterase 9 537 2.5e-167 PFAM
Pfam:Abhydrolase_3 142 275 4.1e-11 PFAM
Pfam:Peptidase_S9 161 326 3.3e-8 PFAM
coiled coil region 538 558 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212347
Meta Mutation Damage Score 0.0643 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,899,098 (GRCm39) N693K probably damaging Het
Adgrl3 T A 5: 81,841,454 (GRCm39) V845D probably damaging Het
Anxa8 T A 14: 33,819,896 (GRCm39) F269Y probably benign Het
Anxa8 T A 14: 33,819,897 (GRCm39) F295L possibly damaging Het
Aox4 C G 1: 58,268,025 (GRCm39) L202V probably damaging Het
Ap3s2 A G 7: 79,559,617 (GRCm39) V104A probably benign Het
Aqp3 G A 4: 41,094,843 (GRCm39) probably benign Het
Arhgef26 C T 3: 62,355,680 (GRCm39) H751Y probably benign Het
Asic4 A T 1: 75,446,331 (GRCm39) Q291L possibly damaging Het
Bap1 T C 14: 30,978,681 (GRCm39) Y31H probably damaging Het
Brf1 A T 12: 112,924,759 (GRCm39) V655D probably damaging Het
Cebpz A G 17: 79,238,820 (GRCm39) S663P probably benign Het
Cfap36 T C 11: 29,194,073 (GRCm39) T90A probably benign Het
Ciita A T 16: 10,330,134 (GRCm39) D803V probably damaging Het
Clnk C A 5: 38,931,951 (GRCm39) probably benign Het
Cyp46a1 A G 12: 108,317,470 (GRCm39) N158S probably damaging Het
Cyp4f13 A G 17: 33,160,080 (GRCm39) I98T possibly damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dll3 T A 7: 28,000,746 (GRCm39) D103V possibly damaging Het
Dnai1 T A 4: 41,629,814 (GRCm39) M446K possibly damaging Het
Dppa4 A T 16: 48,111,425 (GRCm39) T85S probably benign Het
Eif4g1 A T 16: 20,494,095 (GRCm39) H57L probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fn1 T A 1: 71,663,269 (GRCm39) Q1073L possibly damaging Het
Foxp4 T C 17: 48,180,104 (GRCm39) D599G unknown Het
Frrs1 T C 3: 116,675,456 (GRCm39) V128A possibly damaging Het
Gcfc2 G A 6: 81,926,935 (GRCm39) D608N probably damaging Het
Gm1043 T C 5: 37,350,317 (GRCm39) probably benign Het
Gm5148 T C 3: 37,768,926 (GRCm39) E98G probably benign Het
Gpr141 T C 13: 19,936,428 (GRCm39) I116V probably benign Het
Hic1 T C 11: 75,058,169 (GRCm39) N240S probably damaging Het
Hpx G A 7: 105,241,445 (GRCm39) T322I probably damaging Het
Hs3st4 A T 7: 123,996,416 (GRCm39) M361L probably benign Het
Ifrd1 A G 12: 40,257,129 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Klk1b21 T A 7: 43,755,319 (GRCm39) C173S probably damaging Het
Krt25 A T 11: 99,213,524 (GRCm39) V65E probably benign Het
Lrrc15 A T 16: 30,092,267 (GRCm39) D357E possibly damaging Het
Lrrd1 T A 5: 3,901,345 (GRCm39) V550E probably benign Het
Macf1 A G 4: 123,334,540 (GRCm39) Y1490H probably damaging Het
Macrod1 A G 19: 7,174,281 (GRCm39) probably benign Het
Mcm5 T A 8: 75,847,508 (GRCm39) V435D probably damaging Het
Mctp1 C T 13: 76,975,831 (GRCm39) R478C probably damaging Het
Med10 T C 13: 69,959,817 (GRCm39) probably benign Het
Mrpl4 T C 9: 20,919,888 (GRCm39) Y280H probably benign Het
Msrb3 T C 10: 120,687,892 (GRCm39) E61G probably damaging Het
Myo1c T C 11: 75,551,827 (GRCm39) Y337H possibly damaging Het
Myo7b T A 18: 32,143,204 (GRCm39) T165S probably damaging Het
Myrfl T A 10: 116,685,138 (GRCm39) R81W probably damaging Het
Neil1 T C 9: 57,051,030 (GRCm39) probably benign Het
Neto2 A G 8: 86,367,673 (GRCm39) I357T possibly damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nkx6-3 T C 8: 23,643,607 (GRCm39) S3P probably benign Het
Or52h7 A T 7: 104,214,210 (GRCm39) I261L probably benign Het
Plce1 T C 19: 38,512,863 (GRCm39) I54T possibly damaging Het
Prex2 A T 1: 11,355,267 (GRCm39) probably benign Het
Psapl1 T A 5: 36,361,975 (GRCm39) V189E probably damaging Het
Ptdss2 T G 7: 140,735,232 (GRCm39) probably benign Het
Rnf213 T C 11: 119,307,322 (GRCm39) C661R probably benign Het
Rpap1 T C 2: 119,595,380 (GRCm39) probably null Het
Rrp1b A G 17: 32,279,426 (GRCm39) T696A probably benign Het
Sacm1l T A 9: 123,377,982 (GRCm39) H87Q probably benign Het
Serpinb11 T A 1: 107,305,260 (GRCm39) M212K probably damaging Het
Tbc1d22a C A 15: 86,183,885 (GRCm39) T248K probably damaging Het
Tcerg1 C T 18: 42,701,679 (GRCm39) probably benign Het
Tpst1 T A 5: 130,130,627 (GRCm39) H32Q probably damaging Het
Tsc2 A T 17: 24,818,600 (GRCm39) V1412E possibly damaging Het
Usp19 C A 9: 108,378,514 (GRCm39) P1326Q possibly damaging Het
Vmn1r235 T A 17: 21,482,596 (GRCm39) M307K probably damaging Het
Vmn2r58 T A 7: 41,487,048 (GRCm39) T616S probably damaging Het
Vps13a G A 19: 16,637,863 (GRCm39) T2406I possibly damaging Het
Zbtb26 T A 2: 37,326,053 (GRCm39) M328L probably benign Het
Zp2 A G 7: 119,736,423 (GRCm39) F340S probably damaging Het
Other mutations in Ces2h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Ces2h APN 8 105,741,116 (GRCm39) missense probably benign 0.01
IGL02268:Ces2h APN 8 105,746,572 (GRCm39) missense probably benign 0.00
IGL03133:Ces2h APN 8 105,743,411 (GRCm39) missense probably damaging 1.00
R0294:Ces2h UTSW 8 105,743,236 (GRCm39) missense probably benign 0.01
R0482:Ces2h UTSW 8 105,746,903 (GRCm39) missense possibly damaging 0.48
R0899:Ces2h UTSW 8 105,741,182 (GRCm39) missense probably damaging 1.00
R1232:Ces2h UTSW 8 105,741,287 (GRCm39) missense probably benign 0.38
R1535:Ces2h UTSW 8 105,741,118 (GRCm39) missense probably benign 0.06
R1738:Ces2h UTSW 8 105,745,697 (GRCm39) critical splice donor site probably null
R1748:Ces2h UTSW 8 105,744,473 (GRCm39) missense probably benign 0.00
R1759:Ces2h UTSW 8 105,743,243 (GRCm39) missense probably damaging 1.00
R1778:Ces2h UTSW 8 105,741,239 (GRCm39) missense possibly damaging 0.93
R1833:Ces2h UTSW 8 105,747,005 (GRCm39) missense possibly damaging 0.93
R1999:Ces2h UTSW 8 105,746,977 (GRCm39) missense probably benign 0.03
R2018:Ces2h UTSW 8 105,745,030 (GRCm39) missense probably damaging 1.00
R2076:Ces2h UTSW 8 105,745,660 (GRCm39) missense probably benign
R2261:Ces2h UTSW 8 105,743,191 (GRCm39) missense probably damaging 0.99
R2262:Ces2h UTSW 8 105,743,191 (GRCm39) missense probably damaging 0.99
R2356:Ces2h UTSW 8 105,742,570 (GRCm39) missense probably damaging 0.98
R4453:Ces2h UTSW 8 105,741,288 (GRCm39) critical splice donor site probably null
R4656:Ces2h UTSW 8 105,741,271 (GRCm39) missense possibly damaging 0.80
R4732:Ces2h UTSW 8 105,741,236 (GRCm39) missense probably damaging 0.97
R4733:Ces2h UTSW 8 105,741,236 (GRCm39) missense probably damaging 0.97
R5219:Ces2h UTSW 8 105,743,278 (GRCm39) missense probably damaging 1.00
R5400:Ces2h UTSW 8 105,745,057 (GRCm39) missense probably benign 0.01
R5696:Ces2h UTSW 8 105,745,611 (GRCm39) missense possibly damaging 0.69
R5894:Ces2h UTSW 8 105,745,658 (GRCm39) missense probably benign 0.14
R6688:Ces2h UTSW 8 105,744,472 (GRCm39) missense probably benign
R6711:Ces2h UTSW 8 105,744,715 (GRCm39) missense probably benign 0.22
R6868:Ces2h UTSW 8 105,745,055 (GRCm39) missense probably benign 0.02
R7233:Ces2h UTSW 8 105,744,088 (GRCm39) missense probably damaging 0.99
R7516:Ces2h UTSW 8 105,743,458 (GRCm39) missense probably damaging 1.00
R7710:Ces2h UTSW 8 105,727,497 (GRCm39) nonsense probably null
R7735:Ces2h UTSW 8 105,741,127 (GRCm39) missense probably benign 0.01
R7803:Ces2h UTSW 8 105,745,032 (GRCm39) missense probably benign 0.00
R8922:Ces2h UTSW 8 105,744,756 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TGGGAAACAATGGCCTGGCATC -3'
(R):5'- GCCTGGCATGGGGCAAGTTAAATC -3'

Sequencing Primer
(F):5'- TCAAGATCATCCCTGGCATAGTG -3'
(R):5'- GTTCTGGGGACACTCAGC -3'
Posted On 2013-04-12