Incidental Mutation 'R5894:Ces2h'
ID 457381
Institutional Source Beutler Lab
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
MMRRC Submission 043238-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5894 (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 G at 105745658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 460 (I460M)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably benign
Transcript: ENSMUST00000172032
AA Change: I460M

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: I460M

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T A 3: 146,356,680 (GRCm39) E76V probably benign Het
Adcy2 A T 13: 68,773,971 (GRCm39) I1024N probably damaging Het
Agr2 A C 12: 36,045,509 (GRCm39) probably benign Het
Alpk2 T A 18: 65,414,143 (GRCm39) H1991L probably damaging Het
Amotl2 T A 9: 102,602,371 (GRCm39) M448K possibly damaging Het
Ankhd1 T A 18: 36,780,577 (GRCm39) F1876L probably damaging Het
Arl14 T C 3: 69,130,009 (GRCm39) V52A probably benign Het
Atp6v1b2 T A 8: 69,560,218 (GRCm39) probably null Het
Bmal2 A G 6: 146,724,732 (GRCm39) T409A possibly damaging Het
Bpifb4 G A 2: 153,782,852 (GRCm39) R19H possibly damaging Het
Cdh9 T A 15: 16,832,186 (GRCm39) L358I possibly damaging Het
Cog2 T C 8: 125,272,006 (GRCm39) Y507H probably benign Het
Crlf3 T A 11: 79,948,678 (GRCm39) R256W probably damaging Het
Csdc2 T A 15: 81,832,881 (GRCm39) F96I probably damaging Het
Csk A C 9: 57,535,958 (GRCm39) I264S probably damaging Het
Cyp2c29 G C 19: 39,318,833 (GRCm39) A438P possibly damaging Het
Ddx43 G A 9: 78,324,016 (GRCm39) G449D probably damaging Het
Fbxw18 G T 9: 109,529,235 (GRCm39) A106E possibly damaging Het
Fchsd2 C T 7: 100,840,959 (GRCm39) T156I probably benign Het
Frs2 T A 10: 116,917,011 (GRCm39) probably benign Het
Gm57858 C T 3: 36,074,124 (GRCm39) E342K possibly damaging Het
Grid2ip A T 5: 143,374,666 (GRCm39) T922S probably damaging Het
Grm1 A G 10: 10,955,999 (GRCm39) L95P probably damaging Het
Ift140 T C 17: 25,252,893 (GRCm39) V348A possibly damaging Het
Insr A G 8: 3,224,869 (GRCm39) S200P possibly damaging Het
Ints12 A T 3: 132,804,319 (GRCm39) D102V probably damaging Het
Kank1 A G 19: 25,401,564 (GRCm39) D1057G probably damaging Het
Kng1 T A 16: 22,892,113 (GRCm39) D225E probably benign Het
Lama1 A T 17: 68,086,042 (GRCm39) probably null Het
Lpin2 A G 17: 71,553,929 (GRCm39) D882G probably benign Het
Lrp1b A T 2: 41,388,233 (GRCm39) F464Y probably benign Het
Musk G A 4: 58,373,583 (GRCm39) C836Y probably damaging Het
Mx1 C T 16: 97,255,406 (GRCm39) D216N probably damaging Het
Ndrg3 A T 2: 156,770,698 (GRCm39) N350K probably benign Het
Oas3 G A 5: 120,895,019 (GRCm39) P990L probably damaging Het
Or4c111 T A 2: 88,844,399 (GRCm39) N3I probably damaging Het
Or4c12b T C 2: 89,647,557 (GRCm39) S296P possibly damaging Het
Or6c2 A G 10: 129,362,357 (GRCm39) D87G probably damaging Het
Otoa T C 7: 120,721,092 (GRCm39) L369P probably damaging Het
Plcg2 A G 8: 118,231,088 (GRCm39) T57A probably damaging Het
Prune2 A T 19: 17,098,755 (GRCm39) T1420S possibly damaging Het
Ptpdc1 A G 13: 48,743,798 (GRCm39) F201S probably damaging Het
Rnf214 A G 9: 45,777,916 (GRCm39) V630A probably damaging Het
Rxrb T A 17: 34,254,718 (GRCm39) I181N probably damaging Het
Scrib T C 15: 75,939,581 (GRCm39) N69S probably damaging Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Sgcd A G 11: 47,246,028 (GRCm39) V58A probably damaging Het
Slc13a3 C T 2: 165,266,543 (GRCm39) V374I probably benign Het
Slc22a4 A T 11: 53,888,341 (GRCm39) I229N probably benign Het
Slc44a5 A G 3: 153,962,210 (GRCm39) Y381C probably damaging Het
Sohlh1 A G 2: 25,734,679 (GRCm39) S205P possibly damaging Het
Spata20 T C 11: 94,374,444 (GRCm39) M308V probably damaging Het
Stag3 T G 5: 138,297,100 (GRCm39) I550R probably damaging Het
Tac2 A G 10: 127,561,971 (GRCm39) E25G possibly damaging Het
Tars2 T C 3: 95,654,964 (GRCm39) probably null Het
Tefm G A 11: 80,031,057 (GRCm39) R60C probably damaging Het
Trem3 T C 17: 48,565,483 (GRCm39) V179A probably benign Het
Trim37 G T 11: 87,092,266 (GRCm39) D692Y probably damaging Het
Trpc4ap T C 2: 155,508,133 (GRCm39) T173A probably benign Het
Unc13c C T 9: 73,600,486 (GRCm39) probably null Het
Usp18 A G 6: 121,238,456 (GRCm39) K201R probably benign Het
Usp35 T A 7: 96,962,284 (GRCm39) Y524F probably damaging Het
Usp53 A G 3: 122,752,734 (GRCm39) F208L probably damaging Het
Vmn1r80 A T 7: 11,927,654 (GRCm39) I255F probably damaging Het
Vstm2a A T 11: 16,211,483 (GRCm39) I98F probably benign Het
Wdfy4 T A 14: 32,855,317 (GRCm39) I766F possibly damaging Het
Wdr17 T A 8: 55,149,335 (GRCm39) Y55F probably damaging Het
Xpot T C 10: 121,449,551 (GRCm39) K172R 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
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
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'- TCTTGTCATCACAGTTGAGGAAG -3'
(R):5'- TGATTCCATGGCCCACACAG -3'

Sequencing Primer
(F):5'- TTGAGGAAGGACATCCCCTG -3'
(R):5'- GAAGGGACCTGAGTTTCTAATCTCAC -3'
Posted On 2017-02-15