Incidental Mutation 'IGL03265:Ces2a'
ID 415041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces2a
Ensembl Gene ENSMUSG00000055730
Gene Name carboxylesterase 2A
Synonyms 9130231C15Rik, Ces6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL03265
Quality Score
Status
Chromosome 8
Chromosomal Location 105460635-105468266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105464075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 236 (H236Y)
Ref Sequence ENSEMBL: ENSMUSP00000127346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034346] [ENSMUST00000161824] [ENSMUST00000164182]
AlphaFold Q8QZR3
Predicted Effect possibly damaging
Transcript: ENSMUST00000034346
AA Change: H236Y

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: H236Y

DomainStartEndE-ValueType
Pfam:COesterase 9 537 1.2e-171 PFAM
Pfam:Abhydrolase_3 142 267 2.9e-11 PFAM
Pfam:Peptidase_S9 156 347 7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159303
Predicted Effect probably benign
Transcript: ENSMUST00000161824
Predicted Effect possibly damaging
Transcript: ENSMUST00000164182
AA Change: H236Y

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: H236Y

DomainStartEndE-ValueType
Pfam:COesterase 8 276 5e-110 PFAM
Pfam:Abhydrolase_3 142 267 2.6e-11 PFAM
Pfam:Peptidase_S9 156 275 3e-7 PFAM
Pfam:COesterase 259 504 8.3e-47 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C A 11: 109,943,929 (GRCm39) M1113I probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Akr1a1 A G 4: 116,495,014 (GRCm39) M286T probably benign Het
Anapc1 T C 2: 128,469,117 (GRCm39) S1575G probably damaging Het
Apba2 A G 7: 64,345,071 (GRCm39) D87G probably damaging Het
Arhgap21 A G 2: 20,854,439 (GRCm39) F1641S probably benign Het
Atad2b T A 12: 5,074,628 (GRCm39) H1062Q probably benign Het
Bivm A G 1: 44,181,005 (GRCm39) R396G probably damaging Het
Bltp1 T A 3: 37,102,140 (GRCm39) D4777E probably benign Het
Bmi1 T A 2: 18,686,672 (GRCm39) M17K possibly damaging Het
Bptf T C 11: 106,945,454 (GRCm39) N2480S probably benign Het
Cacna2d3 T C 14: 28,674,243 (GRCm39) E944G probably damaging Het
Dnah7a T C 1: 53,568,007 (GRCm39) D1863G probably benign Het
Dnajc17 C A 2: 119,016,199 (GRCm39) E91D probably benign Het
Dus2 C A 8: 106,760,423 (GRCm39) probably benign Het
Epha6 T C 16: 59,880,594 (GRCm39) probably benign Het
Erap1 A T 13: 74,812,246 (GRCm39) T354S probably damaging Het
Fbxo11 T C 17: 88,300,259 (GRCm39) H851R probably damaging Het
Gm20532 G A 2: 26,522,696 (GRCm39) C90Y unknown Het
Gpr21 T C 2: 37,408,086 (GRCm39) Y211H probably damaging Het
Hectd4 A G 5: 121,398,002 (GRCm39) probably benign Het
Hephl1 G A 9: 14,972,255 (GRCm39) T895I probably benign Het
Hey1 T C 3: 8,729,974 (GRCm39) Y161C probably benign Het
Kdr A G 5: 76,121,433 (GRCm39) Y526H probably damaging Het
Lpp A G 16: 24,580,737 (GRCm39) Y151C probably damaging Het
Macc1 A G 12: 119,410,711 (GRCm39) N493S probably benign Het
Or2t45 T C 11: 58,669,697 (GRCm39) V248A probably damaging Het
Or52s6 C A 7: 103,091,655 (GRCm39) R225L probably benign Het
Or5m10b T A 2: 85,699,494 (GRCm39) M186K possibly damaging Het
Or5t16 T A 2: 86,819,424 (GRCm39) Y32F probably damaging Het
Or6c1b A T 10: 129,272,794 (GRCm39) T38S possibly damaging Het
Pcdhb21 A G 18: 37,648,206 (GRCm39) D445G probably damaging Het
Prkra T C 2: 76,470,614 (GRCm39) N123D probably benign Het
Slc25a33 A C 4: 149,846,893 (GRCm39) L56R probably damaging Het
Usp36 A G 11: 118,155,635 (GRCm39) V714A possibly damaging Het
Vmn1r174 T A 7: 23,453,898 (GRCm39) L188* probably null Het
Vmn2r12 A G 5: 109,239,936 (GRCm39) V209A probably benign Het
Zfp809 A G 9: 22,154,339 (GRCm39) Y352C probably benign Het
Other mutations in Ces2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Ces2a APN 8 105,468,047 (GRCm39) makesense probably null
IGL02135:Ces2a APN 8 105,466,813 (GRCm39) missense probably benign 0.00
IGL02529:Ces2a APN 8 105,463,851 (GRCm39) splice site probably benign
IGL02625:Ces2a APN 8 105,466,910 (GRCm39) critical splice donor site probably null
IGL02869:Ces2a APN 8 105,465,691 (GRCm39) missense probably damaging 1.00
IGL03349:Ces2a APN 8 105,460,712 (GRCm39) missense probably damaging 0.99
R0010:Ces2a UTSW 8 105,468,028 (GRCm39) missense probably benign 0.00
R0318:Ces2a UTSW 8 105,467,456 (GRCm39) missense probably damaging 1.00
R0477:Ces2a UTSW 8 105,464,169 (GRCm39) missense probably damaging 0.99
R0561:Ces2a UTSW 8 105,464,165 (GRCm39) missense probably benign 0.35
R0619:Ces2a UTSW 8 105,462,742 (GRCm39) missense probably benign 0.00
R1665:Ces2a UTSW 8 105,464,187 (GRCm39) splice site probably benign
R1737:Ces2a UTSW 8 105,467,456 (GRCm39) missense probably damaging 0.98
R2266:Ces2a UTSW 8 105,466,822 (GRCm39) missense probably benign 0.02
R2267:Ces2a UTSW 8 105,466,822 (GRCm39) missense probably benign 0.02
R2269:Ces2a UTSW 8 105,466,822 (GRCm39) missense probably benign 0.02
R2288:Ces2a UTSW 8 105,464,069 (GRCm39) missense probably damaging 1.00
R2656:Ces2a UTSW 8 105,462,766 (GRCm39) missense probably benign 0.00
R3176:Ces2a UTSW 8 105,466,010 (GRCm39) splice site probably benign
R3906:Ces2a UTSW 8 105,465,940 (GRCm39) missense probably benign 0.00
R4344:Ces2a UTSW 8 105,463,766 (GRCm39) missense probably damaging 1.00
R4708:Ces2a UTSW 8 105,463,938 (GRCm39) missense probably benign 0.14
R4780:Ces2a UTSW 8 105,463,840 (GRCm39) missense probably damaging 1.00
R5434:Ces2a UTSW 8 105,464,041 (GRCm39) missense probably damaging 0.98
R5763:Ces2a UTSW 8 105,462,756 (GRCm39) missense probably benign 0.00
R5828:Ces2a UTSW 8 105,465,956 (GRCm39) missense probably benign 0.00
R6359:Ces2a UTSW 8 105,462,710 (GRCm39) missense probably benign 0.00
R6440:Ces2a UTSW 8 105,467,954 (GRCm39) missense probably benign 0.12
R7066:Ces2a UTSW 8 105,466,880 (GRCm39) missense probably damaging 0.99
R7267:Ces2a UTSW 8 105,465,672 (GRCm39) missense probably benign 0.20
R7395:Ces2a UTSW 8 105,466,273 (GRCm39) missense probably benign 0.35
R7455:Ces2a UTSW 8 105,464,154 (GRCm39) missense probably damaging 1.00
R7457:Ces2a UTSW 8 105,464,021 (GRCm39) missense possibly damaging 0.87
R7567:Ces2a UTSW 8 105,467,930 (GRCm39) missense probably benign 0.01
R7683:Ces2a UTSW 8 105,463,744 (GRCm39) missense probably benign 0.00
R8328:Ces2a UTSW 8 105,463,998 (GRCm39) missense probably damaging 1.00
R8336:Ces2a UTSW 8 105,465,665 (GRCm39) missense probably damaging 0.97
R9183:Ces2a UTSW 8 105,460,774 (GRCm39) missense possibly damaging 0.95
R9794:Ces2a UTSW 8 105,467,896 (GRCm39) missense probably benign 0.16
X0022:Ces2a UTSW 8 105,462,774 (GRCm39) missense probably damaging 1.00
Z1176:Ces2a UTSW 8 105,461,482 (GRCm39) missense probably damaging 1.00
Z1176:Ces2a UTSW 8 105,460,638 (GRCm39) unclassified probably benign
Posted On 2016-08-02