Incidental Mutation 'IGL03133:Ces2h'
ID 410414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03133
Quality Score
Status
Chromosome 8
Chromosomal Location 105727462-105747042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105743411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 188 (D188E)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably damaging
Transcript: ENSMUST00000172032
AA Change: D188E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: D188E

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,161,730 (GRCm39) probably benign Het
Ano5 C T 7: 51,226,260 (GRCm39) R505* probably null Het
Asphd1 A G 7: 126,547,452 (GRCm39) C284R possibly damaging Het
Cep192 T A 18: 67,943,176 (GRCm39) W158R probably benign Het
Dab1 G A 4: 104,584,777 (GRCm39) V306I probably benign Het
Dcc A G 18: 71,396,026 (GRCm39) probably benign Het
Dennd6b T A 15: 89,072,726 (GRCm39) probably null Het
Dmwd T A 7: 18,810,562 (GRCm39) V123D probably damaging Het
Eno1 A G 4: 150,329,801 (GRCm39) probably benign Het
Fat2 G A 11: 55,176,869 (GRCm39) T1542I probably benign Het
Fcrl1 T C 3: 87,296,699 (GRCm39) S274P probably benign Het
Gmpr T C 13: 45,670,494 (GRCm39) V72A probably benign Het
Kank2 T C 9: 21,706,937 (GRCm39) E27G probably null Het
Mtor G T 4: 148,568,776 (GRCm39) A1099S probably benign Het
Ofcc1 T C 13: 40,226,244 (GRCm39) I763V probably benign Het
Or5m10 G T 2: 85,717,478 (GRCm39) E111D probably damaging Het
Or5p63 G T 7: 107,811,594 (GRCm39) S47R possibly damaging Het
Or8b12i T A 9: 20,082,009 (GRCm39) N286I probably damaging Het
Or8k27 A G 2: 86,276,002 (GRCm39) I108T probably damaging Het
Piwil1 C A 5: 128,819,093 (GRCm39) H201N probably benign Het
Slc26a7 C T 4: 14,532,576 (GRCm39) V433M possibly damaging Het
Spata31d1c T C 13: 65,182,799 (GRCm39) Y114H probably benign Het
Stx7 A T 10: 24,060,936 (GRCm39) N221I probably damaging Het
Tbc1d31 A T 15: 57,805,855 (GRCm39) probably benign Het
Ubxn7 T G 16: 32,200,599 (GRCm39) L393R probably damaging Het
Vit A T 17: 78,873,500 (GRCm39) M59L probably benign Het
Vmn1r5 T A 6: 56,962,600 (GRCm39) C92S 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
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
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
Posted On 2016-08-02