Incidental Mutation 'R9794:Ces2a'
ID 734823
Institutional Source Beutler Lab
Gene Symbol Ces2a
Ensembl Gene ENSMUSG00000055730
Gene Name carboxylesterase 2A
Synonyms 9130231C15Rik, Ces6
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R9794 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 105460635-105468266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105467896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 509 (V509M)
Ref Sequence ENSEMBL: ENSMUSP00000034346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034346] [ENSMUST00000161824] [ENSMUST00000164182]
AlphaFold Q8QZR3
Predicted Effect probably benign
Transcript: ENSMUST00000034346
AA Change: V509M

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: V509M

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 probably benign
Transcript: ENSMUST00000164182
AA Change: V476M

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: V476M

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,395,038 (GRCm39) I39L possibly damaging Het
Acacb T C 5: 114,387,578 (GRCm39) V2415A probably benign Het
Adgrg6 C A 10: 14,314,196 (GRCm39) G669C probably damaging Het
Ahcyl A G 16: 45,974,342 (GRCm39) V345A probably benign Het
Arhgdib A G 6: 136,906,608 (GRCm39) probably null Het
Arhgef18 G A 8: 3,501,634 (GRCm39) V643I probably benign Het
Aspm T A 1: 139,406,480 (GRCm39) I1789N probably damaging Het
Atm C T 9: 53,429,867 (GRCm39) V390I probably benign Het
AW554918 A G 18: 25,337,031 (GRCm39) E148G probably damaging Het
Bmal2 T A 6: 146,734,033 (GRCm39) D543E probably benign Het
Camk2a T C 18: 61,097,031 (GRCm39) V327A probably benign Het
Celsr3 T C 9: 108,728,502 (GRCm39) V3302A probably benign Het
Cpa5 T C 6: 30,625,920 (GRCm39) probably null Het
Cplx3 A T 9: 57,509,522 (GRCm39) *159R probably null Het
Cyp2b23 A T 7: 26,381,121 (GRCm39) Y79N probably benign Het
Dapk1 A G 13: 60,909,082 (GRCm39) T1232A probably damaging Het
Dsg3 A T 18: 20,673,154 (GRCm39) T942S probably benign Het
Efnb3 G A 11: 69,448,232 (GRCm39) P70L probably damaging Het
Eln G T 5: 134,751,352 (GRCm39) Y280* probably null Het
Epha8 G T 4: 136,666,035 (GRCm39) H374N probably benign Het
Erbin A T 13: 103,971,359 (GRCm39) D752E probably benign Het
Fam149a A G 8: 45,834,449 (GRCm39) S117P possibly damaging Het
Fchsd2 G A 7: 100,893,410 (GRCm39) C304Y probably benign Het
Galnt6 C A 15: 100,595,859 (GRCm39) V390L probably damaging Het
Grk3 T C 5: 113,121,448 (GRCm39) probably null Het
Il17rc A T 6: 113,453,726 (GRCm39) T237S probably benign Het
Inpp5b A G 4: 124,687,174 (GRCm39) D800G probably damaging Het
Itga11 A G 9: 62,662,868 (GRCm39) N528S probably benign Het
Kif19b T A 5: 140,448,070 (GRCm39) probably null Het
Lancl2 T A 6: 57,714,708 (GRCm39) F442L probably benign Het
Ldah G T 12: 8,318,430 (GRCm39) A180S possibly damaging Het
Lingo1 T C 9: 56,528,592 (GRCm39) E5G probably benign Het
Lingo3 T C 10: 80,670,707 (GRCm39) I408V possibly damaging Het
Liph A T 16: 21,774,862 (GRCm39) L445Q probably damaging Het
Lonrf1 A G 8: 36,703,235 (GRCm39) Y314H probably damaging Het
Lrit3 A T 3: 129,594,073 (GRCm39) L168Q probably damaging Het
Mideas T A 12: 84,220,576 (GRCm39) Q126L probably damaging Het
Mylk4 G T 13: 32,899,950 (GRCm39) T312K probably damaging Het
Myzap A T 9: 71,487,082 (GRCm39) M15K probably benign Het
Ngf G A 3: 102,428,132 (GRCm39) V298M probably damaging Het
Nlrp9a A G 7: 26,264,302 (GRCm39) I741V probably benign Het
Nrxn2 T C 19: 6,567,064 (GRCm39) V1313A possibly damaging Het
Nuf2 C T 1: 169,334,954 (GRCm39) probably null Het
Or13a27 G A 7: 139,925,483 (GRCm39) Q140* probably null Het
Or5m8 A G 2: 85,822,464 (GRCm39) Y101C probably benign Het
Pcdh17 C T 14: 84,770,350 (GRCm39) R943* probably null Het
Phykpl A T 11: 51,489,212 (GRCm39) H346L probably benign Het
Plk4 C A 3: 40,759,535 (GRCm39) L144I probably damaging Het
Pole C A 5: 110,466,201 (GRCm39) P1301Q probably benign Het
Prkch T A 12: 73,744,744 (GRCm39) N252K possibly damaging Het
Psen2 A T 1: 180,068,294 (GRCm39) probably null Het
Ptgds C A 2: 25,359,129 (GRCm39) R42L probably benign Het
Ptprz1 A G 6: 23,000,204 (GRCm39) T765A probably benign Het
Rab6b T C 9: 103,041,061 (GRCm39) F152L possibly damaging Het
Rbm12b2 T A 4: 12,095,335 (GRCm39) F731L probably damaging Het
Resf1 T A 6: 149,228,239 (GRCm39) Y428* probably null Het
Rnf32 T C 5: 29,429,125 (GRCm39) I234T probably damaging Het
Scart2 G A 7: 139,874,716 (GRCm39) G398D probably damaging Het
Scn8a T A 15: 100,933,332 (GRCm39) I1512N probably benign Het
Senp6 T A 9: 79,999,590 (GRCm39) D81E probably benign Het
Slc26a7 T G 4: 14,590,416 (GRCm39) N125T possibly damaging Het
Sptlc1 A T 13: 53,512,803 (GRCm39) I185N possibly damaging Het
Syne2 C A 12: 76,047,617 (GRCm39) H4013N probably benign Het
Tbc1d9b T C 11: 50,062,005 (GRCm39) V1171A probably benign Het
Tmem63b T C 17: 45,977,252 (GRCm39) N417S probably benign Het
Ttn A G 2: 76,706,193 (GRCm39) V9176A unknown Het
Vmn1r210 T C 13: 23,011,432 (GRCm39) I285V probably damaging Het
Wbp11 C T 6: 136,795,021 (GRCm39) V308I possibly damaging Het
Wnk2 A C 13: 49,229,674 (GRCm39) V950G probably benign Het
Zfp110 A G 7: 12,578,521 (GRCm39) N144S 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
IGL03265:Ces2a APN 8 105,464,075 (GRCm39) missense possibly damaging 0.55
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
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
Predicted Primers PCR Primer
(F):5'- TGCCCTTGCTTCACATGGTG -3'
(R):5'- GTAACCTCAGAATTACACCATCTGC -3'

Sequencing Primer
(F):5'- CCTTGCTTCACATGGTGGTGAC -3'
(R):5'- ACACCATCTGCTTTTAATCTCACAC -3'
Posted On 2022-11-14