Incidental Mutation 'R2262:Ces2h'
ID 243876
Institutional Source Beutler Lab
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
MMRRC Submission 040262-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R2262 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105727462-105747042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105743191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 142 (M142K)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably damaging
Transcript: ENSMUST00000172032
AA Change: M142K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: M142K

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 0.2595 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 A G 4: 132,790,474 (GRCm39) T572A unknown Het
Bco1 T C 8: 117,859,764 (GRCm39) L489S probably damaging Het
Brinp1 A G 4: 68,747,591 (GRCm39) Y171H probably damaging Het
C1rl A T 6: 124,483,907 (GRCm39) I186F probably damaging Het
Cacna1d A G 14: 30,212,973 (GRCm39) V29A possibly damaging Het
Calcrl T C 2: 84,175,517 (GRCm39) D279G probably damaging Het
Cass4 T C 2: 172,269,174 (GRCm39) S421P probably damaging Het
Casz1 G T 4: 149,013,556 (GRCm39) R40L probably damaging Het
Cdh23 A G 10: 60,152,907 (GRCm39) V2372A probably damaging Het
Cdk17 T A 10: 93,047,820 (GRCm39) S56T possibly damaging Het
Cfap161 C T 7: 83,442,580 (GRCm39) V78I probably benign Het
Chst8 T A 7: 34,375,435 (GRCm39) M135L probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dcc C T 18: 71,507,622 (GRCm39) E917K probably damaging Het
Dnah11 T A 12: 117,843,760 (GRCm39) M4362L probably benign Het
Dnah11 T C 12: 117,930,374 (GRCm39) T3324A probably damaging Het
Dnah8 A G 17: 30,892,809 (GRCm39) N798S probably damaging Het
Dnajc3 A G 14: 119,198,232 (GRCm39) Q118R probably damaging Het
Dok4 A T 8: 95,593,140 (GRCm39) C182S probably damaging Het
Fnbp4 G T 2: 90,587,748 (GRCm39) L375F probably damaging Het
Gbp8 T C 5: 105,163,999 (GRCm39) Q433R possibly damaging Het
Glt1d1 A G 5: 127,734,176 (GRCm39) M117V probably benign Het
Hcar1 A C 5: 124,016,649 (GRCm39) D347E probably benign Het
Kif16b T C 2: 142,582,837 (GRCm39) K563E probably damaging Het
Klra17 A G 6: 129,851,757 (GRCm39) probably null Het
Krt35 C T 11: 99,986,593 (GRCm39) M140I probably benign Het
Lamb2 A T 9: 108,357,809 (GRCm39) I111F probably damaging Het
Nell1 C T 7: 50,210,569 (GRCm39) T494I possibly damaging Het
Noa1 G A 5: 77,457,651 (GRCm39) Q85* probably null Het
Nsun4 A T 4: 115,910,147 (GRCm39) S138T probably benign Het
Pcdh1 A T 18: 38,331,710 (GRCm39) L431H probably benign Het
Pde1a T A 2: 79,959,275 (GRCm39) probably benign Het
Pdgfra T C 5: 75,346,184 (GRCm39) V778A probably benign Het
Plekhj1 A T 10: 80,632,306 (GRCm39) N55K probably benign Het
Ptpn20 A G 14: 33,334,268 (GRCm39) M49V probably benign Het
Rbm6 A G 9: 107,668,289 (GRCm39) L547P probably damaging Het
Rexo1 C T 10: 80,385,403 (GRCm39) E552K probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Saxo1 C T 4: 86,397,212 (GRCm39) D109N probably damaging Het
Setd2 A G 9: 110,390,311 (GRCm39) probably benign Het
Slc22a28 T C 19: 8,048,573 (GRCm39) Y358C probably benign Het
Sptbn4 T A 7: 27,133,782 (GRCm39) D77V probably damaging Het
Ssh1 T C 5: 114,080,764 (GRCm39) S867G possibly damaging Het
Stmn2 T C 3: 8,606,955 (GRCm39) F25S probably damaging Het
Tcirg1 C T 19: 3,953,591 (GRCm39) R112H possibly damaging Het
Tekt4 T A 17: 25,695,485 (GRCm39) S439R possibly damaging Het
Trpc1 T A 9: 95,588,986 (GRCm39) N746I probably damaging Het
Tuba1c A G 15: 98,935,757 (GRCm39) H406R probably damaging Het
Uqcrfs1 G A 13: 30,725,090 (GRCm39) S150L probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Vmn1r68 T C 7: 10,261,372 (GRCm39) E242G probably damaging Het
Vmn2r29 T A 7: 7,243,085 (GRCm39) H22L possibly damaging Het
Vmn2r32 T A 7: 7,477,618 (GRCm39) I258L probably benign Het
Vmn2r37 T A 7: 9,220,943 (GRCm39) T307S probably damaging Het
Vmn2r6 T C 3: 64,464,090 (GRCm39) N248S probably benign Het
Vmn2r63 G T 7: 42,578,031 (GRCm39) T169N probably benign Het
Vmn2r67 T C 7: 84,786,182 (GRCm39) T608A probably damaging Het
Wdr87-ps T C 7: 29,231,987 (GRCm39) noncoding transcript Het
Xpo1 T A 11: 23,234,634 (GRCm39) probably null Het
Zfp180 T G 7: 23,804,049 (GRCm39) V156G probably benign Het
Zfp37 A T 4: 62,109,873 (GRCm39) L397Q 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
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
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
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'- GGCTTTGATACTGGAGTCGACTAC -3'
(R):5'- CATCTCCAGTGCTGATAAATGGC -3'

Sequencing Primer
(F):5'- TTGATACTGGAGTCGACTACAAACAG -3'
(R):5'- GGAATCACAGGGCTATACTTACTCTG -3'
Posted On 2014-10-16