Incidental Mutation 'R6711:Ces2h'
ID 529134
Institutional Source Beutler Lab
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
MMRRC Submission 044829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6711 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 105727462-105747042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105744715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 364 (R364S)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably benign
Transcript: ENSMUST00000172032
AA Change: R364S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: R364S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (47/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 A G 13: 4,627,374 (GRCm39) D156G probably damaging Het
Ankrd35 C T 3: 96,590,784 (GRCm39) Q357* probably null Het
Ano2 G A 6: 125,752,795 (GRCm39) A191T probably damaging Het
Cacna2d1 C T 5: 16,505,039 (GRCm39) T331I probably damaging Het
Ccdc81 T G 7: 89,537,006 (GRCm39) E214A probably damaging Het
Cdh4 A G 2: 179,532,724 (GRCm39) T729A probably damaging Het
Ceacam2 A G 7: 25,238,295 (GRCm39) L43P probably benign Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Entrep1 T C 19: 23,955,463 (GRCm39) N385S probably benign Het
Epb42 T A 2: 120,854,589 (GRCm39) probably benign Het
Fcgbp G A 7: 27,789,098 (GRCm39) V555M probably damaging Het
Ganc A T 2: 120,281,320 (GRCm39) H723L possibly damaging Het
Gfra2 A G 14: 71,203,715 (GRCm39) D31G probably damaging Het
Glrb A G 3: 80,752,281 (GRCm39) I443T probably benign Het
Hcfc1 A T X: 72,993,671 (GRCm39) C1165S probably damaging Homo
Hoxd10 A G 2: 74,524,507 (GRCm39) Y273C probably damaging Het
Iba57 T C 11: 59,049,369 (GRCm39) T267A probably damaging Het
Impg2 C A 16: 56,085,449 (GRCm39) P943H probably damaging Het
Kidins220 A G 12: 25,048,750 (GRCm39) T145A probably damaging Het
Lmntd1 T C 6: 145,489,228 (GRCm39) Y11C probably benign Het
Lyst A T 13: 13,809,820 (GRCm39) T497S possibly damaging Het
Man1a G A 10: 53,809,588 (GRCm39) H406Y probably benign Het
Mme A T 3: 63,249,339 (GRCm39) K289N possibly damaging Het
Mrps21 G A 3: 95,777,895 (GRCm39) probably benign Het
Mtor A G 4: 148,536,824 (GRCm39) N33D possibly damaging Het
Ncoa1 C A 12: 4,372,904 (GRCm39) A166S probably benign Het
Ndrg2 A T 14: 52,147,782 (GRCm39) F112I possibly damaging Het
Neb A C 2: 52,113,076 (GRCm39) F36C probably benign Het
Neb A G 2: 52,146,299 (GRCm39) Y2893H probably damaging Het
Or8g22 A G 9: 38,958,162 (GRCm39) *229Q probably null Het
Pcdh15 A T 10: 74,478,219 (GRCm39) E231D possibly damaging Het
Pih1d2 T A 9: 50,529,310 (GRCm39) M1K probably null Het
Pla2g4e T C 2: 120,001,751 (GRCm39) N633D probably benign Het
Rph3al C A 11: 75,799,810 (GRCm39) G50* probably null Het
Rtcb A T 10: 85,774,963 (GRCm39) N477K possibly damaging Het
Scn10a A G 9: 119,438,979 (GRCm39) F1630S probably damaging Het
Srfbp1 T C 18: 52,621,373 (GRCm39) S145P probably damaging Het
St7 A G 6: 17,848,069 (GRCm39) E211G possibly damaging Het
Thbs2 T C 17: 14,910,527 (GRCm39) D24G probably benign Het
Tlr6 C A 5: 65,111,835 (GRCm39) M357I probably damaging Het
Tmem168 T C 6: 13,603,120 (GRCm39) Y82C probably damaging Het
Tnrc18 A T 5: 142,773,545 (GRCm39) L245Q unknown Het
Vmn1r8 T C 6: 57,013,444 (GRCm39) L165P probably damaging Het
Vps13b A G 15: 35,887,395 (GRCm39) Y3268C probably damaging Het
Zdhhc7 A G 8: 120,810,066 (GRCm39) I218T probably benign Het
Zfp213 A G 17: 23,778,485 (GRCm39) F209S 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
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
R5894:Ces2h UTSW 8 105,745,658 (GRCm39) missense probably benign 0.14
R6688:Ces2h UTSW 8 105,744,472 (GRCm39) missense probably benign
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'- ACCCTGTTCCCAGTATTATCGG -3'
(R):5'- GCCACTGCCTCAAGATAAAGAG -3'

Sequencing Primer
(F):5'- CCCAGTATTATCGGTGTCAACAATG -3'
(R):5'- CTGCCTCAAGATAAAGAGTAGGGCC -3'
Posted On 2018-07-24