Incidental Mutation 'R3086:Ces2b'
ID 265636
Institutional Source Beutler Lab
Gene Symbol Ces2b
Ensembl Gene ENSMUSG00000050097
Gene Name carboxyesterase 2B
Synonyms
MMRRC Submission 040575-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R3086 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105558204-105566725 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105559401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 89 (D89V)
Ref Sequence ENSEMBL: ENSMUSP00000063005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059449] [ENSMUST00000163042]
AlphaFold Q6PDB7
Predicted Effect possibly damaging
Transcript: ENSMUST00000059449
AA Change: D89V

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: D89V

DomainStartEndE-ValueType
Pfam:COesterase 10 535 8.5e-175 PFAM
Pfam:Abhydrolase_3 140 305 1.8e-11 PFAM
Pfam:Peptidase_S9 161 296 9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163042
SMART Domains Protein: ENSMUSP00000124796
Gene: ENSMUSG00000050097

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Meta Mutation Damage Score 0.1783 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,881 (GRCm39) L48P probably damaging Het
Adgra3 A T 5: 50,170,733 (GRCm39) probably null Het
Alms1 A G 6: 85,655,122 (GRCm39) R3223G probably benign Het
Bltp1 A G 3: 37,065,852 (GRCm39) D3483G possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Dhrs2 G T 14: 55,477,301 (GRCm39) V179L probably benign Het
Dlg5 T C 14: 24,216,258 (GRCm39) T595A probably damaging Het
Dock10 T C 1: 80,510,074 (GRCm39) N1585D possibly damaging Het
Dock4 T C 12: 40,781,862 (GRCm39) I689T probably benign Het
Fgfr4 G T 13: 55,315,205 (GRCm39) probably benign Het
Frk G A 10: 34,483,950 (GRCm39) G437D probably damaging Het
Frzb T G 2: 80,248,858 (GRCm39) I199L possibly damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Helq A G 5: 100,921,858 (GRCm39) L782S probably benign Het
Kif20b T C 19: 34,907,115 (GRCm39) F128S probably damaging Het
Kifc2 T C 15: 76,551,452 (GRCm39) F725L probably benign Het
Lekr1 A G 3: 65,634,581 (GRCm39) noncoding transcript Het
Macf1 T A 4: 123,328,901 (GRCm39) M2490L probably benign Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
N4bp2 A G 5: 65,948,396 (GRCm39) Y342C probably damaging Het
Nf1 T C 11: 79,437,812 (GRCm39) C2057R probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or6c88 G A 10: 129,407,276 (GRCm39) G251S probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdha1 G C 18: 37,064,001 (GRCm39) E222Q possibly damaging Het
Prune2 A T 19: 17,098,777 (GRCm39) D1427V possibly damaging Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Rsph4a G C 10: 33,785,198 (GRCm39) V370L probably damaging Het
Sema5b T A 16: 35,443,093 (GRCm39) S33T probably benign Het
Stk-ps2 A C 1: 46,068,236 (GRCm39) noncoding transcript Het
Tep1 A T 14: 51,064,511 (GRCm39) probably null Het
Tet1 T C 10: 62,715,400 (GRCm39) K132E probably benign Het
Tiam2 A G 17: 3,471,857 (GRCm39) K500E probably damaging Het
Tmem131l G T 3: 83,839,046 (GRCm39) R635S probably benign Het
Tmem68 T C 4: 3,569,594 (GRCm39) E32G possibly damaging Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Zfp780b A G 7: 27,663,055 (GRCm39) I500T probably damaging Het
Zfyve26 G T 12: 79,312,457 (GRCm39) probably benign Het
Other mutations in Ces2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Ces2b APN 8 105,561,236 (GRCm39) splice site probably benign
IGL01905:Ces2b APN 8 105,560,594 (GRCm39) missense probably damaging 1.00
IGL02528:Ces2b APN 8 105,561,601 (GRCm39) missense probably damaging 1.00
IGL02659:Ces2b APN 8 105,559,202 (GRCm39) splice site probably benign
IGL02885:Ces2b APN 8 105,561,563 (GRCm39) missense probably damaging 1.00
PIT4142001:Ces2b UTSW 8 105,563,442 (GRCm39) missense probably damaging 1.00
R0092:Ces2b UTSW 8 105,563,144 (GRCm39) missense possibly damaging 0.48
R0403:Ces2b UTSW 8 105,560,577 (GRCm39) missense probably damaging 0.98
R0600:Ces2b UTSW 8 105,562,542 (GRCm39) missense probably benign 0.06
R0637:Ces2b UTSW 8 105,561,237 (GRCm39) splice site probably benign
R1574:Ces2b UTSW 8 105,562,521 (GRCm39) missense probably benign 0.16
R1574:Ces2b UTSW 8 105,562,521 (GRCm39) missense probably benign 0.16
R3036:Ces2b UTSW 8 105,561,258 (GRCm39) missense possibly damaging 0.87
R4761:Ces2b UTSW 8 105,563,193 (GRCm39) critical splice donor site probably null
R4920:Ces2b UTSW 8 105,563,538 (GRCm39) missense probably benign
R4937:Ces2b UTSW 8 105,559,413 (GRCm39) missense probably benign 0.29
R5211:Ces2b UTSW 8 105,561,695 (GRCm39) missense possibly damaging 0.89
R5550:Ces2b UTSW 8 105,565,069 (GRCm39) missense probably benign 0.00
R5790:Ces2b UTSW 8 105,560,568 (GRCm39) missense probably damaging 1.00
R6403:Ces2b UTSW 8 105,562,901 (GRCm39) nonsense probably null
R6692:Ces2b UTSW 8 105,563,919 (GRCm39) missense probably damaging 1.00
R6720:Ces2b UTSW 8 105,563,501 (GRCm39) missense probably benign 0.32
R6899:Ces2b UTSW 8 105,563,398 (GRCm39) splice site probably null
R7148:Ces2b UTSW 8 105,564,928 (GRCm39) missense probably damaging 1.00
R7270:Ces2b UTSW 8 105,564,472 (GRCm39) missense possibly damaging 0.50
R7571:Ces2b UTSW 8 105,561,641 (GRCm39) missense probably damaging 1.00
R7626:Ces2b UTSW 8 105,564,017 (GRCm39) missense possibly damaging 0.82
R7841:Ces2b UTSW 8 105,561,692 (GRCm39) missense probably benign 0.19
R7892:Ces2b UTSW 8 105,559,385 (GRCm39) missense probably damaging 1.00
R8029:Ces2b UTSW 8 105,561,482 (GRCm39) missense probably damaging 1.00
R8293:Ces2b UTSW 8 105,559,258 (GRCm39) missense unknown
R8296:Ces2b UTSW 8 105,563,112 (GRCm39) missense possibly damaging 0.77
R8721:Ces2b UTSW 8 105,560,527 (GRCm39) missense possibly damaging 0.88
R9100:Ces2b UTSW 8 105,558,221 (GRCm39) unclassified probably benign
R9361:Ces2b UTSW 8 105,564,039 (GRCm39) critical splice donor site probably null
R9461:Ces2b UTSW 8 105,564,011 (GRCm39) missense probably benign 0.39
R9477:Ces2b UTSW 8 105,560,556 (GRCm39) missense probably damaging 1.00
X0027:Ces2b UTSW 8 105,560,560 (GRCm39) missense probably damaging 1.00
Z1177:Ces2b UTSW 8 105,559,227 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCAGATGGTTGCAGATACATAACC -3'
(R):5'- TGGCCCAGTTGTTCTATTCAAC -3'

Sequencing Primer
(F):5'- GGTTGCAGATACATAACCCTGATAG -3'
(R):5'- GCCCAGTTGTTCTATTCAACATTAAC -3'
Posted On 2015-02-05