Incidental Mutation 'R1843:Ces5a'
ID 207439
Institutional Source Beutler Lab
Gene Symbol Ces5a
Ensembl Gene ENSMUSG00000058019
Gene Name carboxylesterase 5A
Synonyms 1700122C07Rik, Ces7, cauxin, LOC244598, 1700081L16Rik
MMRRC Submission 039868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R1843 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 94225692-94262458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94240859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 413 (V413M)
Ref Sequence ENSEMBL: ENSMUSP00000148481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077816] [ENSMUST00000212009]
AlphaFold Q6AW46
Predicted Effect probably damaging
Transcript: ENSMUST00000077816
AA Change: V413M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019
AA Change: V413M

DomainStartEndE-ValueType
Pfam:COesterase 10 539 3.2e-157 PFAM
Pfam:Abhydrolase_3 141 238 9.5e-7 PFAM
low complexity region 552 575 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000212009
AA Change: V413M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212690
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
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 CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik C T 8: 106,435,606 (GRCm39) T88M probably damaging Het
9430038I01Rik A G 7: 136,978,795 (GRCm39) probably benign Het
Adgra3 A C 5: 50,118,834 (GRCm39) S905A probably damaging Het
Adgrv1 A G 13: 81,692,652 (GRCm39) Y1618H probably damaging Het
Anapc15-ps T C 10: 95,509,176 (GRCm39) T26A probably benign Het
Ankrd13d T C 19: 4,321,623 (GRCm39) K360E probably damaging Het
Anks1b T A 10: 90,348,751 (GRCm39) probably null Het
Apob T C 12: 8,057,602 (GRCm39) F2028S possibly damaging Het
Arap3 G A 18: 38,108,636 (GRCm39) R1265W probably damaging Het
Arhgef37 A G 18: 61,651,121 (GRCm39) Y135H probably damaging Het
Armh3 A C 19: 45,963,691 (GRCm39) S42R probably benign Het
Atp1a1 T C 3: 101,489,333 (GRCm39) T760A probably benign Het
Cdc42bpb T A 12: 111,289,255 (GRCm39) M497L probably benign Het
Chd5 A T 4: 152,470,263 (GRCm39) Y1903F probably damaging Het
Chd9 T A 8: 91,737,422 (GRCm39) N1500K probably benign Het
Chmp7 G T 14: 69,957,248 (GRCm39) D303E probably benign Het
Chrnb4 A T 9: 54,942,102 (GRCm39) Y391N possibly damaging Het
Crtc1 T C 8: 70,840,802 (GRCm39) T475A probably benign Het
Cyp2c69 A G 19: 39,865,972 (GRCm39) I207T probably benign Het
Dcp1a A G 14: 30,240,940 (GRCm39) E250G probably damaging Het
Ddx20 T C 3: 105,586,398 (GRCm39) Q649R probably benign Het
Defb12 T A 8: 19,162,754 (GRCm39) K59N probably damaging Het
Dpy19l3 A T 7: 35,429,185 (GRCm39) I85N probably damaging Het
Duox2 C T 2: 122,122,739 (GRCm39) probably null Het
Ebi3 T A 17: 56,263,679 (GRCm39) Y197N probably damaging Het
Emc1 G A 4: 139,102,823 (GRCm39) R994Q probably benign Het
Ercc6 G T 14: 32,268,777 (GRCm39) M530I probably damaging Het
Evl T A 12: 108,619,255 (GRCm39) D70E probably damaging Het
Fbln2 A G 6: 91,242,757 (GRCm39) N819S probably damaging Het
Foxk2 A G 11: 121,176,363 (GRCm39) I170V probably benign Het
Gfm1 T C 3: 67,342,943 (GRCm39) V159A probably damaging Het
Gm10837 A G 14: 122,728,177 (GRCm39) T18A unknown Het
Gm12887 A T 4: 121,479,227 (GRCm39) V25E probably damaging Het
Hectd4 A G 5: 121,435,243 (GRCm39) H985R possibly damaging Het
Hsfy2 A G 1: 56,675,791 (GRCm39) Y249H possibly damaging Het
Hspg2 T C 4: 137,272,878 (GRCm39) V2639A probably damaging Het
Igf2r A G 17: 12,923,157 (GRCm39) probably null Het
Invs T A 4: 48,422,035 (GRCm39) I889N probably damaging Het
Kcnq1 A T 7: 142,736,857 (GRCm39) M209L probably benign Het
Klra7 A G 6: 130,206,957 (GRCm39) I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrif1 T A 3: 106,640,127 (GRCm39) V404D probably damaging Het
Lrriq1 T A 10: 103,063,034 (GRCm39) probably null Het
Lypd6 T A 2: 50,078,774 (GRCm39) I90N possibly damaging Het
Mbp A G 18: 82,602,247 (GRCm39) D174G probably damaging Het
Megf9 G T 4: 70,453,022 (GRCm39) P13Q probably damaging Het
Myo15b A T 11: 115,760,412 (GRCm39) T1155S probably benign Het
Nherf2 C T 17: 24,860,693 (GRCm39) S150N possibly damaging Het
Nlrp6 T A 7: 140,503,006 (GRCm39) C371S probably damaging Het
Nosip T A 7: 44,726,733 (GRCm39) probably null Het
Nox3 G T 17: 3,720,153 (GRCm39) P344H probably damaging Het
Nup210l T C 3: 90,079,393 (GRCm39) V959A probably damaging Het
Or10d1 A G 9: 39,484,031 (GRCm39) Y175H possibly damaging Het
Or2b2b C A 13: 21,858,842 (GRCm39) V91L probably benign Het
Or2k2 T C 4: 58,785,384 (GRCm39) I113V probably benign Het
Or5b119 A G 19: 13,457,295 (GRCm39) I89T probably benign Het
Or5k8 T A 16: 58,644,440 (GRCm39) I211F probably damaging Het
Osbpl3 A C 6: 50,347,123 (GRCm39) S25A probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Pax7 G A 4: 139,511,802 (GRCm39) R260C probably damaging Het
Pbrm1 A T 14: 30,760,914 (GRCm39) I224F probably damaging Het
Pcdh1 T A 18: 38,325,278 (GRCm39) probably null Het
Pcnx1 T C 12: 82,027,709 (GRCm39) L1585P probably damaging Het
Pde4c C T 8: 71,200,599 (GRCm39) H362Y probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pgm1 A T 4: 99,818,675 (GRCm39) Q90L probably damaging Het
Phlpp1 A G 1: 106,271,235 (GRCm39) H814R probably benign Het
Pknox2 A T 9: 36,866,127 (GRCm39) M5K possibly damaging Het
Pole G A 5: 110,478,701 (GRCm39) probably null Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prelp T C 1: 133,842,495 (GRCm39) K217E probably damaging Het
Prkce C T 17: 86,782,974 (GRCm39) Q202* probably null Het
Psmd2 T G 16: 20,475,332 (GRCm39) M370R probably benign Het
Rimklb A T 6: 122,440,968 (GRCm39) H68Q probably damaging Het
Rnasel A G 1: 153,630,420 (GRCm39) D312G possibly damaging Het
Rxrg A T 1: 167,426,321 (GRCm39) M1L probably benign Het
Scrn1 A G 6: 54,499,826 (GRCm39) F220L possibly damaging Het
Scyl3 A G 1: 163,778,244 (GRCm39) S461G probably benign Het
Serpina1c T A 12: 103,861,282 (GRCm39) T411S probably benign Het
Serpinb6d C T 13: 33,855,364 (GRCm39) P346L probably benign Het
Shld2 A G 14: 33,989,760 (GRCm39) I382T probably benign Het
Spg21 G T 9: 65,372,618 (GRCm39) V17F probably damaging Het
Spink5 A T 18: 44,132,958 (GRCm39) M525L probably benign Het
Sun2 T C 15: 79,621,764 (GRCm39) T155A probably benign Het
Tchh T A 3: 93,354,087 (GRCm39) F1176I unknown Het
Tex15 T A 8: 34,066,682 (GRCm39) D2037E probably benign Het
Tfdp2 T C 9: 96,199,857 (GRCm39) C392R possibly damaging Het
Tmem30c T C 16: 57,097,143 (GRCm39) N139S probably benign Het
Tns2 C T 15: 102,021,568 (GRCm39) probably null Het
Trim66 T C 7: 109,075,046 (GRCm39) E405G probably damaging Het
Trpc4 T A 3: 54,187,415 (GRCm39) F456I probably benign Het
Tspo2 T C 17: 48,755,818 (GRCm39) D108G possibly damaging Het
Tyk2 A T 9: 21,032,850 (GRCm39) C304* probably null Het
Vgll4 A T 6: 114,839,756 (GRCm39) S185T probably benign Het
Vmn2r94 A C 17: 18,464,732 (GRCm39) S519R probably benign Het
Vmn2r96 T G 17: 18,818,183 (GRCm39) S587A probably benign Het
Vps4b C A 1: 106,706,712 (GRCm39) A287S possibly damaging Het
Yeats2 C T 16: 20,048,314 (GRCm39) P1332S probably benign Het
Zfp462 T G 4: 55,010,010 (GRCm39) S659A possibly damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp764l1 A C 7: 126,990,660 (GRCm39) D442E probably benign Het
Zswim5 G T 4: 116,734,896 (GRCm39) E80D unknown Het
Other mutations in Ces5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ces5a APN 8 94,252,172 (GRCm39) critical splice donor site probably null
IGL01520:Ces5a APN 8 94,246,206 (GRCm39) missense probably benign 0.08
IGL01674:Ces5a APN 8 94,228,847 (GRCm39) missense probably damaging 1.00
IGL02257:Ces5a APN 8 94,252,226 (GRCm39) missense probably benign 0.00
IGL02456:Ces5a APN 8 94,255,272 (GRCm39) splice site probably benign
IGL03027:Ces5a APN 8 94,249,742 (GRCm39) splice site probably null
IGL03051:Ces5a APN 8 94,255,226 (GRCm39) missense probably damaging 1.00
IGL03264:Ces5a APN 8 94,228,898 (GRCm39) missense possibly damaging 0.74
IGL03290:Ces5a APN 8 94,246,260 (GRCm39) missense probably damaging 1.00
R0115:Ces5a UTSW 8 94,228,811 (GRCm39) missense probably damaging 0.98
R0124:Ces5a UTSW 8 94,255,183 (GRCm39) missense probably damaging 1.00
R0521:Ces5a UTSW 8 94,252,286 (GRCm39) missense probably damaging 1.00
R1404:Ces5a UTSW 8 94,228,809 (GRCm39) missense probably damaging 1.00
R1404:Ces5a UTSW 8 94,228,809 (GRCm39) missense probably damaging 1.00
R1524:Ces5a UTSW 8 94,252,293 (GRCm39) missense probably damaging 0.96
R2029:Ces5a UTSW 8 94,261,205 (GRCm39) missense probably damaging 1.00
R2135:Ces5a UTSW 8 94,226,369 (GRCm39) missense probably benign 0.33
R2146:Ces5a UTSW 8 94,261,327 (GRCm39) missense probably benign 0.03
R2973:Ces5a UTSW 8 94,255,132 (GRCm39) missense probably damaging 1.00
R3755:Ces5a UTSW 8 94,255,130 (GRCm39) missense probably benign 0.15
R4755:Ces5a UTSW 8 94,262,305 (GRCm39) missense probably benign 0.39
R5072:Ces5a UTSW 8 94,261,296 (GRCm39) missense probably damaging 1.00
R5278:Ces5a UTSW 8 94,252,266 (GRCm39) missense probably damaging 1.00
R5419:Ces5a UTSW 8 94,226,059 (GRCm39) missense unknown
R5825:Ces5a UTSW 8 94,252,295 (GRCm39) missense probably damaging 1.00
R6318:Ces5a UTSW 8 94,261,211 (GRCm39) missense probably damaging 1.00
R6925:Ces5a UTSW 8 94,249,685 (GRCm39) splice site probably null
R6950:Ces5a UTSW 8 94,257,402 (GRCm39) missense probably benign 0.10
R7148:Ces5a UTSW 8 94,228,950 (GRCm39) missense probably damaging 1.00
R7256:Ces5a UTSW 8 94,226,154 (GRCm39) missense probably benign 0.13
R7290:Ces5a UTSW 8 94,261,311 (GRCm39) missense probably damaging 1.00
R7459:Ces5a UTSW 8 94,262,369 (GRCm39) start gained probably benign
R7674:Ces5a UTSW 8 94,240,897 (GRCm39) missense probably damaging 1.00
R7815:Ces5a UTSW 8 94,247,623 (GRCm39) missense possibly damaging 0.79
R8150:Ces5a UTSW 8 94,257,430 (GRCm39) missense probably damaging 1.00
R8771:Ces5a UTSW 8 94,255,249 (GRCm39) missense possibly damaging 0.85
R9502:Ces5a UTSW 8 94,262,308 (GRCm39) nonsense probably null
R9518:Ces5a UTSW 8 94,257,430 (GRCm39) missense probably damaging 1.00
R9745:Ces5a UTSW 8 94,228,814 (GRCm39) missense probably damaging 0.97
X0024:Ces5a UTSW 8 94,240,841 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCATCCACTGTGAACACAC -3'
(R):5'- GGTTTTCCTAGGACCGTGAAC -3'

Sequencing Primer
(F):5'- GTTCATCCACTGTGAACACACCAAAG -3'
(R):5'- GGTTTTCCTAGGACCGTGAACTTTTC -3'
Posted On 2014-06-23