Incidental Mutation 'R7803:Ces2h'
ID 600615
Institutional Source Beutler Lab
Gene Symbol Ces2h
Ensembl Gene ENSMUSG00000091813
Gene Name carboxylesterase 2H
Synonyms Gm5744
MMRRC Submission 045858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R7803 (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 G at 105745032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 389 (M389V)
Ref Sequence ENSEMBL: ENSMUSP00000126773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172032]
AlphaFold F6Z9B9
Predicted Effect probably benign
Transcript: ENSMUST00000172032
AA Change: M389V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126773
Gene: ENSMUSG00000091813
AA Change: M389V

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (49/50)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 C A 19: 34,220,818 (GRCm39) A297S probably benign Het
Ada A G 2: 163,577,288 (GRCm39) Y67H probably benign Het
Adcy9 A G 16: 4,122,244 (GRCm39) I839T probably benign Het
Arg1 C T 10: 24,792,689 (GRCm39) V182I possibly damaging Het
Cbx7 G A 15: 79,818,024 (GRCm39) T26M unknown Het
Ceacam5 A G 7: 17,493,317 (GRCm39) Y780C probably damaging Het
Chst11 A T 10: 83,027,020 (GRCm39) E149V possibly damaging Het
Clstn1 T C 4: 149,716,328 (GRCm39) W265R probably damaging Het
Col4a4 A G 1: 82,467,419 (GRCm39) probably null Het
Csrp3 T G 7: 48,483,545 (GRCm39) K119T probably benign Het
Ddx39a T C 8: 84,446,229 (GRCm39) probably null Het
Ddx41 A G 13: 55,679,734 (GRCm39) I437T probably damaging Het
Eif1ad4 T A 12: 87,862,269 (GRCm39) C44S probably benign Het
Fbln5 A T 12: 101,728,077 (GRCm39) D282E probably damaging Het
Folh1 G A 7: 86,375,306 (GRCm39) T527I probably damaging Het
Gch1 T A 14: 47,426,418 (GRCm39) T103S probably benign Het
Gpr149 A G 3: 62,438,136 (GRCm39) S674P probably damaging Het
Hecw1 G T 13: 14,408,927 (GRCm39) R1127S probably benign Het
Hmcn1 A T 1: 150,646,030 (GRCm39) C723S probably benign Het
Impg2 T C 16: 56,087,513 (GRCm39) S1111P probably damaging Het
Insl3 T C 8: 72,141,984 (GRCm39) L28P probably damaging Het
Kifc1 T C 17: 34,103,714 (GRCm39) D203G probably benign Het
Kmt2d A T 15: 98,760,804 (GRCm39) S849T unknown Het
Krt33b A G 11: 99,916,084 (GRCm39) probably null Het
Lpin3 A G 2: 160,737,310 (GRCm39) D119G possibly damaging Het
Maml2 GCA GCACCA 9: 13,532,572 (GRCm39) probably benign Het
Maml2 AGC AGCCGC 9: 13,532,571 (GRCm39) probably benign Het
Maml2 AGC AGCCGC 9: 13,532,550 (GRCm39) probably benign Het
Nsun7 T A 5: 66,433,884 (GRCm39) L178* probably null Het
Or6c1b A G 10: 129,272,800 (GRCm39) N40D probably damaging Het
Or6c205 A T 10: 129,086,864 (GRCm39) I154F probably benign Het
Or8g55 A T 9: 39,785,378 (GRCm39) D269V probably benign Het
Orc6 T A 8: 86,030,037 (GRCm39) S136T possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Plxnc1 A G 10: 94,779,377 (GRCm39) probably null Het
Prkdc G A 16: 15,623,960 (GRCm39) D3308N probably null Het
Rtkn2 G A 10: 67,815,643 (GRCm39) probably null Het
Sele T C 1: 163,878,263 (GRCm39) S201P possibly damaging Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Sparc A T 11: 55,300,797 (GRCm39) I5N probably damaging Het
Spata31e3 A G 13: 50,400,226 (GRCm39) V700A probably benign Het
Srm T C 4: 148,678,402 (GRCm39) I238T probably damaging Het
Stx2 C A 5: 129,070,627 (GRCm39) E97* probably null Het
Sugp2 C T 8: 70,704,722 (GRCm39) P753L probably benign Het
Tenm2 A T 11: 35,937,943 (GRCm39) S1578T probably damaging Het
Tff3 T C 17: 31,348,544 (GRCm39) T3A probably benign Het
Tmem38a C T 8: 73,325,964 (GRCm39) A6V probably benign Het
Trbv16 G A 6: 41,128,929 (GRCm39) A38T not run Het
Trim30a G A 7: 104,060,604 (GRCm39) Q391* probably null Het
Ttn T G 2: 76,606,715 (GRCm39) Y18065S probably damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Vmn2r24 T A 6: 123,757,438 (GRCm39) M102K probably benign Het
Vmn2r69 G T 7: 85,056,324 (GRCm39) H605N probably benign Het
Washc1 T A 17: 66,426,055 (GRCm39) M451K possibly damaging Het
Washc3 G T 10: 88,051,937 (GRCm39) probably null Het
Washc5 A T 15: 59,240,308 (GRCm39) Y112N probably damaging Het
Zbtb40 T A 4: 136,744,638 (GRCm39) T261S 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
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
R8922:Ces2h UTSW 8 105,744,756 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TTGCCAATGTATCCTGATCATGC -3'
(R):5'- AGCACCACAGTTCTAAGCTC -3'

Sequencing Primer
(F):5'- TGTATCCTGATCATGCAACAAACTGC -3'
(R):5'- CTCCCTAGGCATTAGGCATCAG -3'
Posted On 2019-11-26