Incidental Mutation 'R0899:Ces2h'
ID 83796
Institutional Source Beutler Lab
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
MMRRC Submission 039059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0899 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 105727462-105747042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105741182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 58 (L58P)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably damaging
Transcript: ENSMUST00000172032
AA Change: L58P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: L58P

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
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.6%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik T C 15: 84,833,459 (GRCm39) K442E probably damaging Het
Adamts1 G A 16: 85,594,940 (GRCm39) R340* probably null Het
Afg3l2 T C 18: 67,556,047 (GRCm39) N428S possibly damaging Het
Aqp12 G A 1: 92,934,332 (GRCm39) D70N probably damaging Het
Astn1 T A 1: 158,338,679 (GRCm39) C475* probably null Het
Atp2b1 G A 10: 98,852,893 (GRCm39) probably null Het
Cbln2 T C 18: 86,734,877 (GRCm39) S217P possibly damaging Het
Cfap43 C T 19: 47,736,433 (GRCm39) G1353R possibly damaging Het
Crcp A G 5: 130,088,672 (GRCm39) M91V probably benign Het
Cubn A G 2: 13,367,139 (GRCm39) V1577A possibly damaging Het
Dthd1 A G 5: 63,000,271 (GRCm39) H531R probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fam3d A G 14: 8,364,863 (GRCm38) I16T probably damaging Het
Fat2 C T 11: 55,147,051 (GRCm39) G3982S probably damaging Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fcnb T A 2: 27,966,791 (GRCm39) K247N probably damaging Het
Gtf2a1l A G 17: 88,976,152 (GRCm39) N5S Het
Htr3a T A 9: 48,812,752 (GRCm39) D229V possibly damaging Het
Ipo11 A C 13: 107,037,324 (GRCm39) L173* probably null Het
Jam3 C A 9: 27,010,253 (GRCm39) G244W probably damaging Het
Lypd11 C T 7: 24,422,737 (GRCm39) R112H probably benign Het
Mrpl52 C T 14: 54,664,541 (GRCm39) R12* probably null Het
Myo15a A G 11: 60,368,011 (GRCm39) Y257C possibly damaging Het
Myocd G A 11: 65,086,018 (GRCm39) P215L possibly damaging Het
Ndst1 T C 18: 60,840,954 (GRCm39) T243A probably benign Het
Obox5 A T 7: 15,492,800 (GRCm39) T252S probably benign Het
Or5m13b A G 2: 85,753,731 (GRCm39) T40A probably benign Het
Or6c75 T C 10: 129,337,301 (GRCm39) F183L probably damaging Het
Or7g34 A C 9: 19,477,843 (GRCm39) V276G probably damaging Het
Osbpl1a T C 18: 12,890,747 (GRCm39) S377G possibly damaging Het
Pfkl A G 10: 77,841,273 (GRCm39) probably null Het
Prdm16 A T 4: 154,613,366 (GRCm39) N20K probably damaging Het
Prkd1 A G 12: 50,431,976 (GRCm39) I589T probably damaging Het
Scnn1b G A 7: 121,516,938 (GRCm39) G525S probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Ttn A G 2: 76,718,329 (GRCm39) probably benign Het
Wap T C 11: 6,586,725 (GRCm39) T125A probably benign Het
Wdr86 C T 5: 24,923,005 (GRCm39) R229Q probably benign 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
R0138:Ces2h UTSW 8 105,744,693 (GRCm39) missense probably benign 0.01
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
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'- GGAAGCTACTTATGCAGACCCAACC -3'
(R):5'- AGCTGGCAGAGTCCTTGTACTCTC -3'

Sequencing Primer
(F):5'- TTATGCAGACCCAACCTTGATG -3'
(R):5'- TTCCCCCGTATGATGGAAAAGTG -3'
Posted On 2013-11-08