Incidental Mutation 'R7270:Ces2b'
ID 565233
Institutional Source Beutler Lab
Gene Symbol Ces2b
Ensembl Gene ENSMUSG00000050097
Gene Name carboxyesterase 2B
Synonyms
MMRRC Submission 045390-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7270 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 105558204-105566725 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105564472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 494 (H494L)
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: H494L

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: H494L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l A T 10: 42,301,245 (GRCm39) Y193N probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Aimp1 T C 3: 132,382,772 (GRCm39) K44E probably damaging Het
Arid1b T A 17: 5,046,318 (GRCm39) Y369N unknown Het
Art5 A T 7: 101,747,080 (GRCm39) V233D probably damaging Het
Baz2b T A 2: 59,792,836 (GRCm39) N431Y possibly damaging Het
Bik T A 15: 83,428,364 (GRCm39) F131I possibly damaging Het
Bmpr1a A G 14: 34,163,082 (GRCm39) Y103H probably damaging Het
Cabp7 C T 11: 4,696,676 (GRCm39) V18M possibly damaging Het
Cacna1a C A 8: 85,297,866 (GRCm39) T1240N probably damaging Het
Cacna1h A G 17: 25,603,739 (GRCm39) V1311A probably damaging Het
Cbarp A C 10: 79,973,151 (GRCm39) S16A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cfap43 T A 19: 47,728,224 (GRCm39) H1511L possibly damaging Het
Cfap54 A G 10: 92,675,320 (GRCm39) V2867A probably benign Het
Col5a1 C T 2: 27,887,597 (GRCm39) P956L unknown Het
Dcakd T G 11: 102,891,032 (GRCm39) Q19P possibly damaging Het
Ddx47 T A 6: 135,000,301 (GRCm39) D432E probably benign Het
Dhrs7b T C 11: 60,735,055 (GRCm39) F29L probably benign Het
Dis3l2 A T 1: 86,918,025 (GRCm39) D558V possibly damaging Het
Dtx3l T A 16: 35,754,027 (GRCm39) D193V probably damaging Het
Eif1ad12 T C 12: 87,541,663 (GRCm39) L58P probably damaging Het
Epha4 G A 1: 77,376,422 (GRCm39) R486C probably damaging Het
Fam186a T C 15: 99,842,033 (GRCm39) T1404A possibly damaging Het
Fat1 A G 8: 45,490,475 (GRCm39) T3796A probably damaging Het
Ffar2 A T 7: 30,518,929 (GRCm39) W204R probably benign Het
Ftmt A G 18: 52,465,091 (GRCm39) I136V probably benign Het
Gm10300 T C 4: 131,802,167 (GRCm39) W54R unknown Het
Gm10518 C T 1: 179,630,949 (GRCm39) P3L unknown Het
Grm2 G A 9: 106,528,257 (GRCm39) T209M probably damaging Het
Gtdc1 C T 2: 44,525,322 (GRCm39) M176I probably benign Het
Insrr T C 3: 87,710,440 (GRCm39) L382P probably damaging Het
Jade2 A G 11: 51,708,011 (GRCm39) V734A possibly damaging Het
Kcnh4 C T 11: 100,638,472 (GRCm39) R586H probably benign Het
Kdm1a A T 4: 136,279,838 (GRCm39) D721E probably damaging Het
Knl1 G A 2: 118,933,003 (GRCm39) C2054Y possibly damaging Het
Lrrk2 C T 15: 91,584,644 (GRCm39) P354S probably benign Het
Luzp2 A G 7: 54,724,774 (GRCm39) I112V probably damaging Het
Mgl2 T C 11: 70,026,506 (GRCm39) S105P probably damaging Het
Mocs1 T A 17: 49,756,143 (GRCm39) M200K possibly damaging Het
Oat T A 7: 132,168,927 (GRCm39) I98L probably benign Het
Obscn T C 11: 58,920,312 (GRCm39) Y8C Het
Or5b108 G A 19: 13,168,768 (GRCm39) V246I possibly damaging Het
Or6c1b T G 10: 129,273,319 (GRCm39) F213V probably benign Het
Pde1b T A 15: 103,430,082 (GRCm39) M137K possibly damaging Het
Phf21a T C 2: 92,157,484 (GRCm39) I204T probably damaging Het
Plcd4 A G 1: 74,593,838 (GRCm39) E321G possibly damaging Het
Plpp7 C T 2: 31,985,662 (GRCm39) probably benign Het
Prdm1 A G 10: 44,317,566 (GRCm39) I419T probably benign Het
Sec16b A T 1: 157,392,032 (GRCm39) R855W probably damaging Het
Sec16b G T 1: 157,392,033 (GRCm39) R855M probably damaging Het
Sec31b T C 19: 44,511,482 (GRCm39) T640A probably benign Het
Siglec1 T C 2: 130,923,471 (GRCm39) T425A possibly damaging Het
Sirpd A T 3: 15,385,704 (GRCm39) I66N probably benign Het
Skil T C 3: 31,151,324 (GRCm39) probably benign Het
Slc1a5 G A 7: 16,519,623 (GRCm39) V200M probably damaging Het
Slc25a12 T C 2: 71,154,369 (GRCm39) H139R probably benign Het
Slc25a32 A T 15: 38,961,630 (GRCm39) V187D probably damaging Het
Slc35a3 G A 3: 116,505,455 (GRCm39) probably benign Het
Smap2 C A 4: 120,829,264 (GRCm39) M328I probably benign Het
Spef2 C T 15: 9,600,066 (GRCm39) probably null Het
Srarp A G 4: 141,160,389 (GRCm39) V148A possibly damaging Het
Stard9 T A 2: 120,464,755 (GRCm39) Y73* probably null Het
Tars1 A G 15: 11,392,105 (GRCm39) C236R probably benign Het
Tchh G C 3: 93,351,837 (GRCm39) D426H unknown Het
Tnks2 T C 19: 36,836,545 (GRCm39) F17S Het
Ube2g1 T C 11: 72,553,939 (GRCm39) I30T possibly damaging Het
Ube2o C T 11: 116,434,761 (GRCm39) D567N possibly damaging Het
Unc5b A T 10: 60,608,002 (GRCm39) Y710* probably null Het
Vmn1r215 T C 13: 23,260,089 (GRCm39) V43A possibly damaging Het
Xkr8 A G 4: 132,455,648 (GRCm39) F242L probably benign Het
Zfp526 T A 7: 24,925,345 (GRCm39) C535S probably damaging 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
R3086:Ces2b UTSW 8 105,559,401 (GRCm39) missense possibly damaging 0.92
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
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'- AACTTGCATGGATCTTGGGTTC -3'
(R):5'- TTATAGCCCCACCAGCTTTG -3'

Sequencing Primer
(F):5'- TCTTGGGTTCTGAATAATGAAGAAGG -3'
(R):5'- CAGCTTTGTCACTTTGAGATGACCAG -3'
Posted On 2019-06-26