Incidental Mutation 'R1759:Ces2h'
ID 195190
Institutional Source Beutler Lab
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
MMRRC Submission 039791-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R1759 (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 A at 105743243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 159 (D159E)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably damaging
Transcript: ENSMUST00000172032
AA Change: D159E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: D159E

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.5%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,272 (GRCm39) M53L possibly damaging Het
Abca5 T C 11: 110,184,674 (GRCm39) D944G probably benign Het
Ankdd1b T C 13: 96,556,211 (GRCm39) Y433C probably damaging Het
Aox3 A G 1: 58,209,805 (GRCm39) probably null Het
Ap1g1 G A 8: 110,559,853 (GRCm39) G260E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a4 T A 16: 29,275,429 (GRCm39) T352S probably damaging Het
Ccdc33 T A 9: 58,024,729 (GRCm39) N166Y possibly damaging Het
Chd1 T A 17: 17,607,533 (GRCm39) D360E probably benign Het
Col16a1 G T 4: 129,978,062 (GRCm39) G781V probably damaging Het
Col6a5 T A 9: 105,808,045 (GRCm39) E1001V unknown Het
Cracdl A T 1: 37,664,791 (GRCm39) I369N probably benign Het
Cyp3a59 T G 5: 146,035,060 (GRCm39) M246R probably benign Het
Dcn T C 10: 97,349,517 (GRCm39) V263A probably benign Het
Dnttip2 A G 3: 122,069,798 (GRCm39) N338D probably benign Het
Entpd1 G T 19: 40,600,968 (GRCm39) probably null Het
Epb41l1 A G 2: 156,363,894 (GRCm39) D801G probably benign Het
Fam186a T A 15: 99,864,762 (GRCm39) K23* probably null Het
Gbe1 T C 16: 70,284,929 (GRCm39) M417T probably benign Het
Gmnc T A 16: 26,784,497 (GRCm39) S3C possibly damaging Het
Gpr156 T C 16: 37,768,583 (GRCm39) S35P probably damaging Het
Grid1 T C 14: 35,167,988 (GRCm39) M504T possibly damaging Het
Gsdma3 T C 11: 98,526,071 (GRCm39) V265A possibly damaging Het
Hsd3b3 A T 3: 98,649,399 (GRCm39) I308N probably damaging Het
Inpp4b A G 8: 82,494,732 (GRCm39) D49G probably benign Het
Ipmk C A 10: 71,217,133 (GRCm39) Q227K probably damaging Het
Kalrn T A 16: 34,181,320 (GRCm39) D88V probably damaging Het
Kansl1l C T 1: 66,841,047 (GRCm39) M84I probably damaging Het
Kcnab2 T G 4: 152,477,509 (GRCm39) K363Q probably damaging Het
Kdm7a C A 6: 39,124,633 (GRCm39) probably null Het
Kiss1r T C 10: 79,757,612 (GRCm39) L322P probably damaging Het
Lce1e A T 3: 92,615,178 (GRCm39) C56* probably null Het
Lrpprc T C 17: 85,047,509 (GRCm39) K908E probably damaging Het
Mak C A 13: 41,210,110 (GRCm39) W42L probably damaging Het
Map3k21 A G 8: 126,671,519 (GRCm39) T936A probably benign Het
Marchf7 C T 2: 60,064,888 (GRCm39) S388F probably damaging Het
Matcap1 A T 8: 106,012,182 (GRCm39) S88R probably damaging Het
Mgat2 A T 12: 69,232,301 (GRCm39) I292F probably benign Het
Myh3 C A 11: 66,987,717 (GRCm39) R1397S probably damaging Het
Myo5a A G 9: 75,089,275 (GRCm39) D1135G possibly damaging Het
N4bp2 A G 5: 65,983,956 (GRCm39) E1667G probably damaging Het
Nbr1 A G 11: 101,450,369 (GRCm39) T43A probably damaging Het
Nip7 A G 8: 107,784,767 (GRCm39) N124S probably benign Het
Or3a1 G A 11: 74,225,808 (GRCm39) S83F possibly damaging Het
Or51l14 T C 7: 103,101,356 (GRCm39) S271P probably benign Het
Or6c75 T A 10: 129,336,775 (GRCm39) S7R probably benign Het
Or7g25 C T 9: 19,160,384 (GRCm39) V104I probably benign Het
Or8b55 T C 9: 38,727,194 (GRCm39) Y132H probably damaging Het
Otoa T C 7: 120,733,326 (GRCm39) L731P probably damaging Het
Pcnx2 G A 8: 126,500,717 (GRCm39) P1458S probably damaging Het
Pfpl A G 19: 12,407,224 (GRCm39) T492A probably damaging Het
Pgm1 A G 4: 99,824,305 (GRCm39) D326G probably damaging Het
Plekhh1 T A 12: 79,119,535 (GRCm39) Y953N probably damaging Het
Pnkd G A 1: 74,387,922 (GRCm39) A195T probably damaging Het
Ppib C T 9: 65,968,764 (GRCm39) Q51* probably null Het
Ppip5k1 G T 2: 121,181,067 (GRCm39) T13K probably benign Het
Psmg2 A T 18: 67,781,246 (GRCm39) S113C probably benign Het
Rapgef2 A G 3: 78,974,038 (GRCm39) M1584T possibly damaging Het
Rbm12b1 A C 4: 12,145,424 (GRCm39) R465S probably damaging Het
Reln A G 5: 22,215,287 (GRCm39) Y1055H probably damaging Het
Ros1 A T 10: 51,996,922 (GRCm39) I1250K probably damaging Het
Samd9l C A 6: 3,373,401 (GRCm39) V1287F probably damaging Het
Sgce A T 6: 4,689,765 (GRCm39) I356N probably damaging Het
Sh3tc1 C T 5: 35,863,248 (GRCm39) E980K possibly damaging Het
Sil1 T C 18: 35,551,151 (GRCm39) E68G possibly damaging Het
Slc18a1 A G 8: 69,518,237 (GRCm39) I259T possibly damaging Het
Slc6a20b A C 9: 123,438,062 (GRCm39) probably null Het
Smg7 G T 1: 152,724,597 (GRCm39) T536K probably benign Het
Smyd4 A G 11: 75,273,192 (GRCm39) Y84C probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sorbs2 A T 8: 46,216,056 (GRCm39) *50C probably null Het
Speg A T 1: 75,377,806 (GRCm39) M855L possibly damaging Het
Srrt G T 5: 137,301,212 (GRCm39) H71Q probably damaging Het
St6galnac5 A G 3: 152,552,130 (GRCm39) S146P probably damaging Het
Syne1 T A 10: 5,299,369 (GRCm39) Q962L probably damaging Het
Tiam2 A G 17: 3,566,278 (GRCm39) H1441R probably damaging Het
Tmem45a C T 16: 56,642,765 (GRCm39) M135I probably benign Het
Tpr A T 1: 150,305,275 (GRCm39) E1521D probably benign Het
Uba3 C T 6: 97,173,865 (GRCm39) G107R probably damaging Het
Unc45b G T 11: 82,820,325 (GRCm39) V590F probably benign Het
Vmn1r14 A T 6: 57,211,297 (GRCm39) T292S probably benign Het
Vmn2r102 T A 17: 19,914,755 (GRCm39) N773K probably damaging Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Wfs1 G C 5: 37,124,359 (GRCm39) A844G probably damaging Het
Zfp398 A G 6: 47,836,412 (GRCm39) T71A possibly damaging Het
Zfp507 C A 7: 35,475,403 (GRCm39) A145S probably damaging Het
Zfp971 A T 2: 177,675,722 (GRCm39) E440D 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
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'- TGTCCATGACTGCACTTGAACCC -3'
(R):5'- ACACTTGTGCCACCTGCTGATG -3'

Sequencing Primer
(F):5'- GAACCCGTCACTCATAGTATCTG -3'
(R):5'- CCTCCAAAGTAGGCGATGTTC -3'
Posted On 2014-05-23