Incidental Mutation 'R2202:Ces4a'
ID 238756
Institutional Source Beutler Lab
Gene Symbol Ces4a
Ensembl Gene ENSMUSG00000060560
Gene Name carboxylesterase 4A
Synonyms Ces8
MMRRC Submission 040204-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2202 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 105858432-105876741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105872746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 333 (V333E)
Ref Sequence ENSEMBL: ENSMUSP00000125062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161289]
AlphaFold Q8R0W5
Predicted Effect probably damaging
Transcript: ENSMUST00000161289
AA Change: V333E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125062
Gene: ENSMUSG00000060560
AA Change: V333E

DomainStartEndE-ValueType
Pfam:COesterase 8 554 4.9e-163 PFAM
Pfam:Abhydrolase_3 143 319 2e-9 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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 also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,056,011 (GRCm39) V249A possibly damaging Het
9930111J21Rik2 C G 11: 48,910,149 (GRCm39) L761F probably damaging Het
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abca14 T C 7: 119,888,764 (GRCm39) Y1237H probably benign Het
Abi3bp C T 16: 56,471,088 (GRCm39) R578* probably null Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Adamts7 A T 9: 90,062,729 (GRCm39) K394N probably damaging Het
Ahdc1 A G 4: 132,793,220 (GRCm39) E1487G possibly damaging Het
AI987944 T C 7: 41,023,950 (GRCm39) E343G probably damaging Het
Ankrd26 T A 6: 118,500,843 (GRCm39) H876L possibly damaging Het
Atg16l1 A C 1: 87,694,737 (GRCm39) Q138P probably benign Het
Atp1b1 G T 1: 164,281,084 (GRCm39) T11K probably benign Het
Calr3 A G 8: 73,188,683 (GRCm39) L40S probably damaging Het
Ccar1 A C 10: 62,581,066 (GRCm39) D1119E unknown Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cdk12 T G 11: 98,101,464 (GRCm39) S441A unknown Het
Cfap61 T C 2: 146,056,600 (GRCm39) L1193P probably damaging Het
Chd2 A T 7: 73,128,416 (GRCm39) D856E probably benign Het
Chil3 T C 3: 106,071,562 (GRCm39) D34G probably benign Het
Cln3 T A 7: 126,178,390 (GRCm39) H211L probably benign Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dcstamp T A 15: 39,617,708 (GRCm39) V39E probably damaging Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Duox1 A G 2: 122,175,194 (GRCm39) T1331A probably benign Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fam184a T A 10: 53,528,530 (GRCm39) Q29L probably damaging Het
Fcer2a T C 8: 3,738,557 (GRCm39) E60G possibly damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Fnbp1l A T 3: 122,340,611 (GRCm39) M463K probably benign Het
Garem2 A G 5: 30,319,762 (GRCm39) D408G probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Gpc3 T A X: 51,486,083 (GRCm39) I344F probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Il15ra T A 2: 11,723,155 (GRCm39) probably null Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Irak1 G A X: 73,060,744 (GRCm39) T193I probably damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Letm1 C A 5: 33,926,830 (GRCm39) V156L possibly damaging Het
Lrrc24 G A 15: 76,607,111 (GRCm39) P95L probably damaging Het
Map2k2 T C 10: 80,955,213 (GRCm39) S14P probably damaging Het
Me3 T C 7: 89,499,589 (GRCm39) Y535H probably damaging Het
Nfatc2ip T C 7: 125,990,467 (GRCm39) E178G probably benign Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or10a2 T A 7: 106,673,523 (GRCm39) W163R probably damaging Het
Or2m12 C T 16: 19,105,047 (GRCm39) A149T probably benign Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pid1 T A 1: 84,016,159 (GRCm39) I69F probably damaging Het
Pkhd1 A G 1: 20,607,584 (GRCm39) S1091P probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Plxnd1 T C 6: 115,939,725 (GRCm39) N1418S probably benign Het
Pmm1 T C 15: 81,840,601 (GRCm39) T82A probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Ptprz1 C T 6: 23,000,649 (GRCm39) T913M possibly damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Rbm8a2 T C 1: 175,806,420 (GRCm39) E19G possibly damaging Het
Rgs3 T C 4: 62,608,741 (GRCm39) S336P probably damaging Het
Saxo5 A T 8: 3,529,028 (GRCm39) D201V probably benign Het
Serpina11 G T 12: 103,952,233 (GRCm39) T179K probably damaging Het
Serpina1f T C 12: 103,659,655 (GRCm39) N209S possibly damaging Het
Serpinf2 G A 11: 75,327,588 (GRCm39) T159I probably benign Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc22a20 A T 19: 6,021,553 (GRCm39) I483N possibly damaging Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Timd5 A G 11: 46,419,394 (GRCm39) N70S probably benign Het
Tln1 C T 4: 43,553,083 (GRCm39) probably null Het
Tmem39b A C 4: 129,587,716 (GRCm39) S32A probably benign Het
Tmx3 T C 18: 90,546,037 (GRCm39) F206S probably damaging Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Trappc10 A G 10: 78,034,876 (GRCm39) probably null Het
Tssk2 A G 16: 17,716,603 (GRCm39) D2G possibly damaging Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Ube3b G A 5: 114,527,135 (GRCm39) V118M probably damaging Het
Vmn1r23 T C 6: 57,903,604 (GRCm39) D58G probably benign Het
Vmn2r53 T A 7: 12,335,366 (GRCm39) Y98F probably damaging Het
Vmn2r58 T A 7: 41,513,594 (GRCm39) N350Y probably benign Het
Vmn2r82 A T 10: 79,192,519 (GRCm39) H32L probably benign Het
Wsb1 T C 11: 79,131,212 (GRCm39) I395V probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfat T C 15: 68,051,709 (GRCm39) D695G probably benign Het
Zfp358 G T 8: 3,546,995 (GRCm39) V526F possibly damaging Het
Zmat1 A G X: 133,873,861 (GRCm39) L476P possibly damaging Het
Other mutations in Ces4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Ces4a APN 8 105,871,795 (GRCm39) missense probably benign 0.00
IGL01574:Ces4a APN 8 105,871,859 (GRCm39) splice site probably benign
IGL01655:Ces4a APN 8 105,873,806 (GRCm39) missense probably damaging 0.99
IGL03092:Ces4a APN 8 105,874,836 (GRCm39) splice site probably benign
IGL03151:Ces4a APN 8 105,874,829 (GRCm39) critical splice donor site probably null
F6893:Ces4a UTSW 8 105,873,859 (GRCm39) missense possibly damaging 0.74
R0266:Ces4a UTSW 8 105,868,598 (GRCm39) missense probably benign
R0659:Ces4a UTSW 8 105,871,554 (GRCm39) splice site probably benign
R1239:Ces4a UTSW 8 105,876,130 (GRCm39) missense probably damaging 1.00
R1467:Ces4a UTSW 8 105,864,667 (GRCm39) missense possibly damaging 0.56
R1467:Ces4a UTSW 8 105,864,667 (GRCm39) missense possibly damaging 0.56
R1505:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1509:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1598:Ces4a UTSW 8 105,869,453 (GRCm39) missense probably damaging 1.00
R1734:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1736:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1737:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1738:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1744:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1789:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1951:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1953:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R2126:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R2129:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R4512:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R4865:Ces4a UTSW 8 105,873,790 (GRCm39) missense probably benign 0.05
R4934:Ces4a UTSW 8 105,864,613 (GRCm39) missense probably benign 0.30
R4936:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R5255:Ces4a UTSW 8 105,869,121 (GRCm39) missense probably benign 0.00
R5342:Ces4a UTSW 8 105,872,775 (GRCm39) missense probably benign 0.07
R5647:Ces4a UTSW 8 105,872,712 (GRCm39) missense probably benign 0.10
R6062:Ces4a UTSW 8 105,864,806 (GRCm39) critical splice donor site probably null
R6490:Ces4a UTSW 8 105,876,090 (GRCm39) missense probably benign 0.09
R6606:Ces4a UTSW 8 105,876,010 (GRCm39) missense possibly damaging 0.95
R6876:Ces4a UTSW 8 105,871,624 (GRCm39) missense possibly damaging 0.56
R6901:Ces4a UTSW 8 105,873,330 (GRCm39) missense probably benign
R7519:Ces4a UTSW 8 105,871,851 (GRCm39) missense probably damaging 1.00
R7682:Ces4a UTSW 8 105,873,297 (GRCm39) missense probably benign 0.00
R8171:Ces4a UTSW 8 105,873,839 (GRCm39) missense probably damaging 1.00
R8329:Ces4a UTSW 8 105,874,714 (GRCm39) missense probably damaging 1.00
R8833:Ces4a UTSW 8 105,858,614 (GRCm39) missense probably benign 0.00
R9168:Ces4a UTSW 8 105,876,050 (GRCm39) missense probably benign 0.00
R9557:Ces4a UTSW 8 105,869,527 (GRCm39) missense possibly damaging 0.92
R9758:Ces4a UTSW 8 105,869,054 (GRCm39) missense possibly damaging 0.50
Z1176:Ces4a UTSW 8 105,858,609 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTTCCTGAGTATCACTACCGG -3'
(R):5'- TTTTGCATCCTCAATGGGGC -3'

Sequencing Primer
(F):5'- TGAGTATCACTACCGGTAATCTCAC -3'
(R):5'- TCAATGGGGCCACTACGATCTG -3'
Posted On 2014-10-02