Incidental Mutation 'R1232:Ces2h'
ID 152324
Institutional Source Beutler Lab
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
MMRRC Submission 039301-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R1232 (G1)
Quality Score 191
Status Not validated
Chromosome 8
Chromosomal Location 105727462-105747042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105741287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 93 (M93T)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably benign
Transcript: ENSMUST00000172032
AA Change: M93T

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: M93T

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: 99.1%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 88.6%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T A 1: 156,469,300 (GRCm39) L751M probably damaging Het
Arhgap29 A G 3: 121,796,989 (GRCm39) D525G probably damaging Het
Ccdc168 T C 1: 44,095,752 (GRCm39) Y1782C possibly damaging Het
Cyp4a12b A T 4: 115,289,760 (GRCm39) D209V possibly damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Fbxo38 A G 18: 62,643,882 (GRCm39) V925A probably damaging Het
Glp1r A C 17: 31,137,905 (GRCm39) H112P probably benign Het
Gtf3c5 A G 2: 28,461,227 (GRCm39) W296R probably damaging Het
Ints8 A G 4: 11,234,587 (GRCm39) I415T possibly damaging Het
Krt1c A G 15: 101,720,219 (GRCm39) S513P probably damaging Het
Loxhd1 G A 18: 77,493,699 (GRCm39) probably null Het
Mfsd3 A G 15: 76,587,382 (GRCm39) Q355R probably damaging Het
Mms22l C T 4: 24,536,274 (GRCm39) T621I probably benign Het
Or8g54 G A 9: 39,707,264 (GRCm39) V198I probably benign Het
Pcdhb8 A G 18: 37,488,828 (GRCm39) N169D probably benign Het
Rnls T G 19: 33,180,046 (GRCm39) I135L probably benign Het
Sgsm1 G T 5: 113,421,577 (GRCm39) C558* probably null Het
Spata31d1c T A 13: 65,184,428 (GRCm39) C657S probably benign Het
Vmn2r15 T C 5: 109,441,168 (GRCm39) D230G probably benign Het
Zfp429 T C 13: 67,538,751 (GRCm39) Y231C possibly 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
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
R0899:Ces2h UTSW 8 105,741,182 (GRCm39) missense probably damaging 1.00
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'- ATGCAGACCCAACCTTGATGTCGC -3'
(R):5'- ACCCTGAACTAAGAAGCTGGCAGAG -3'

Sequencing Primer
(F):5'- TTCTGCATCCACAGGCCAG -3'
(R):5'- AAGCTGGCAGAGTCCTTG -3'
Posted On 2014-01-29