Incidental Mutation 'R7206:Aadacl2'
ID 560599
Institutional Source Beutler Lab
Gene Symbol Aadacl2
Ensembl Gene ENSMUSG00000091376
Gene Name arylacetamide deacetylase like 2
Synonyms EG639634
MMRRC Submission 045284-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R7206 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 59914164-59932841 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59932662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 392 (M392I)
Ref Sequence ENSEMBL: ENSMUSP00000129444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169794]
AlphaFold B2RWD2
Predicted Effect probably benign
Transcript: ENSMUST00000169794
AA Change: M392I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129444
Gene: ENSMUSG00000091376
AA Change: M392I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:COesterase 91 219 2.7e-7 PFAM
Pfam:Abhydrolase_3 107 272 8.2e-38 PFAM
Pfam:Abhydrolase_3 270 375 3.2e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (87/88)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,285,211 (GRCm39) D142V probably damaging Het
Acr T C 15: 89,458,374 (GRCm39) S352P probably benign Het
Adam6a T C 12: 113,509,654 (GRCm39) C676R probably damaging Het
Adgra3 T C 5: 50,164,238 (GRCm39) D247G probably damaging Het
Agxt2 A T 15: 10,377,542 (GRCm39) E147D probably damaging Het
Atp2a1 T C 7: 126,047,144 (GRCm39) T805A probably benign Het
Atp8b4 T C 2: 126,300,212 (GRCm39) S106G probably damaging Het
Ccdc170 T A 10: 4,464,120 (GRCm39) M87K possibly damaging Het
Ccnl2 T G 4: 155,905,431 (GRCm39) V287G possibly damaging Het
Ccr6 A T 17: 8,475,781 (GRCm39) M329L probably benign Het
Cflar G T 1: 58,780,150 (GRCm39) M248I Het
Cib4 A T 5: 30,703,110 (GRCm39) L5* probably null Het
Col27a1 A T 4: 63,153,583 (GRCm39) Y645F probably benign Het
Cxcr2 A G 1: 74,198,213 (GRCm39) T236A possibly damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah7a A T 1: 53,737,792 (GRCm39) L47* probably null Het
Dnajb6 A C 5: 29,986,335 (GRCm39) K301T possibly damaging Het
Dpf2 T A 19: 5,954,571 (GRCm39) I157F possibly damaging Het
Drd4 G A 7: 140,872,032 (GRCm39) G28R probably damaging Het
Dus3l A T 17: 57,074,807 (GRCm39) I310F probably damaging Het
Dusp29 A G 14: 21,727,102 (GRCm39) V182A probably damaging Het
Eef1akmt3 A G 10: 126,876,862 (GRCm39) L95P probably damaging Het
Fabp7 C T 10: 57,661,087 (GRCm39) probably benign Het
Fam135a T C 1: 24,069,354 (GRCm39) N505S probably benign Het
Fam216b C A 14: 78,322,567 (GRCm39) D46Y probably damaging Het
Gata6 C T 18: 11,054,850 (GRCm39) R260C probably damaging Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Golgb1 A G 16: 36,734,111 (GRCm39) I1160M probably benign Het
Hjv A T 3: 96,435,444 (GRCm39) D234V probably damaging Het
Kiss1 A G 1: 133,255,063 (GRCm39) K26E probably benign Het
Knl1 T A 2: 118,899,780 (GRCm39) F494I probably benign Het
Ktn1 T C 14: 47,932,985 (GRCm39) L713S probably damaging Het
Loxhd1 A G 18: 77,529,513 (GRCm39) D2052G probably damaging Het
Lpo A C 11: 87,698,249 (GRCm39) L582R probably damaging Het
Map2k3 A G 11: 60,834,406 (GRCm39) T125A Het
Matn3 T A 12: 9,011,170 (GRCm39) N360K probably benign Het
Mlip A T 9: 77,072,144 (GRCm39) V237E probably damaging Het
Mms22l T C 4: 24,591,146 (GRCm39) V999A probably benign Het
Mn1 A G 5: 111,568,378 (GRCm39) K783E possibly damaging Het
Myo1h A T 5: 114,457,836 (GRCm39) K132* probably null Het
Nle1 A G 11: 82,795,757 (GRCm39) V230A probably benign Het
Or1ak2 T A 2: 36,827,784 (GRCm39) Y218N probably damaging Het
Or1e1b-ps1 A T 11: 73,845,647 (GRCm39) I44F probably benign Het
Or4a68 T C 2: 89,270,801 (GRCm39) probably benign Het
Or4f62 T G 2: 111,986,804 (GRCm39) C169W probably damaging Het
Or51f23 T C 7: 102,452,891 (GRCm39) S69P probably damaging Het
Or7e169 C T 9: 19,757,856 (GRCm39) D20N probably damaging Het
Ormdl2 T A 10: 128,656,284 (GRCm39) H7L possibly damaging Het
Pam A G 1: 97,823,757 (GRCm39) S225P probably damaging Het
Pan2 C A 10: 128,150,414 (GRCm39) Y719* probably null Het
Ppfia4 T C 1: 134,255,127 (GRCm39) S243G probably benign Het
Ppig T G 2: 69,571,910 (GRCm39) S210A unknown Het
Ppwd1 A T 13: 104,350,106 (GRCm39) N426K probably damaging Het
Prxl2a T A 14: 40,726,142 (GRCm39) M12L probably benign Het
Rnf10 T G 5: 115,382,180 (GRCm39) D675A probably benign Het
Rrp12 A T 19: 41,866,478 (GRCm39) L619H probably damaging Het
Rsph10b C T 5: 143,898,010 (GRCm39) T497I possibly damaging Het
Scnm1 A T 3: 95,041,205 (GRCm39) M1K probably null Het
Scp2 G T 4: 107,931,638 (GRCm39) D332E probably benign Het
Senp3 T C 11: 69,569,557 (GRCm39) I314V probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc44a2 T C 9: 21,258,103 (GRCm39) F451S probably damaging Het
Slfn1 A T 11: 83,012,837 (GRCm39) M318L probably benign Het
Syne2 C T 12: 76,051,531 (GRCm39) S4087L probably benign Het
Syt7 A G 19: 10,395,337 (GRCm39) Y49C probably damaging Het
Tas2r134 T C 2: 51,518,120 (GRCm39) Y200H probably benign Het
Tgfbr1 A T 4: 47,402,941 (GRCm39) H315L probably damaging Het
Tmem184c A G 8: 78,323,206 (GRCm39) V552A possibly damaging Het
Tnxb A G 17: 34,923,075 (GRCm39) R2553G possibly damaging Het
Tomm40 C G 7: 19,444,861 (GRCm39) R173S probably benign Het
Tonsl T C 15: 76,517,851 (GRCm39) D650G probably damaging Het
Tpo G C 12: 30,153,133 (GRCm39) S407W possibly damaging Het
Trank1 T C 9: 111,174,583 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,378 (GRCm39) E99G probably damaging Het
Tubb2a C A 13: 34,259,505 (GRCm39) S95I possibly damaging Het
Vav2 C A 2: 27,226,731 (GRCm39) R114L probably benign Het
Vmn1r172 A T 7: 23,359,582 (GRCm39) I156L possibly damaging Het
Vmn1r238 A G 18: 3,122,623 (GRCm39) Y264H possibly damaging Het
Vmn2r26 T A 6: 124,016,727 (GRCm39) M397K probably benign Het
Vmn2r73 T C 7: 85,522,075 (GRCm39) N88S probably benign Het
Vps13a T C 19: 16,731,662 (GRCm39) N150S probably damaging Het
Vps35 A T 8: 86,014,350 (GRCm39) Y100N probably damaging Het
Vps8 A C 16: 21,276,171 (GRCm39) I235L probably damaging Het
Yipf2 T A 9: 21,501,657 (GRCm39) H157L probably damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp503 G T 14: 22,035,553 (GRCm39) S454R possibly damaging Het
Zfp619 C T 7: 39,184,824 (GRCm39) R285C probably benign Het
Other mutations in Aadacl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Aadacl2 APN 3 59,932,097 (GRCm39) missense probably benign
IGL01626:Aadacl2 APN 3 59,926,595 (GRCm39) missense probably damaging 1.00
IGL01777:Aadacl2 APN 3 59,932,205 (GRCm39) missense possibly damaging 0.61
IGL02189:Aadacl2 APN 3 59,932,609 (GRCm39) missense probably damaging 0.99
IGL03238:Aadacl2 APN 3 59,932,339 (GRCm39) missense probably benign 0.31
R0369:Aadacl2 UTSW 3 59,932,143 (GRCm39) nonsense probably null
R0540:Aadacl2 UTSW 3 59,926,627 (GRCm39) missense possibly damaging 0.50
R1440:Aadacl2 UTSW 3 59,932,313 (GRCm39) missense probably damaging 0.99
R1589:Aadacl2 UTSW 3 59,917,997 (GRCm39) missense probably benign 0.00
R1778:Aadacl2 UTSW 3 59,924,871 (GRCm39) splice site probably null
R1781:Aadacl2 UTSW 3 59,932,117 (GRCm39) missense probably damaging 1.00
R1812:Aadacl2 UTSW 3 59,932,498 (GRCm39) missense probably damaging 1.00
R2411:Aadacl2 UTSW 3 59,924,844 (GRCm39) missense possibly damaging 0.94
R4622:Aadacl2 UTSW 3 59,914,474 (GRCm39) missense probably damaging 1.00
R4698:Aadacl2 UTSW 3 59,932,460 (GRCm39) missense probably benign 0.00
R5326:Aadacl2 UTSW 3 59,932,484 (GRCm39) missense probably damaging 1.00
R5542:Aadacl2 UTSW 3 59,932,484 (GRCm39) missense probably damaging 1.00
R6314:Aadacl2 UTSW 3 59,924,824 (GRCm39) missense probably damaging 1.00
R6469:Aadacl2 UTSW 3 59,932,210 (GRCm39) missense probably benign 0.24
R6953:Aadacl2 UTSW 3 59,932,181 (GRCm39) missense possibly damaging 0.78
R7082:Aadacl2 UTSW 3 59,932,306 (GRCm39) missense probably damaging 1.00
R7967:Aadacl2 UTSW 3 59,932,169 (GRCm39) missense probably benign
R8000:Aadacl2 UTSW 3 59,924,796 (GRCm39) missense possibly damaging 0.60
R8731:Aadacl2 UTSW 3 59,932,367 (GRCm39) missense probably benign 0.08
R8855:Aadacl2 UTSW 3 59,914,511 (GRCm39) missense probably benign 0.00
R8866:Aadacl2 UTSW 3 59,914,511 (GRCm39) missense probably benign 0.00
R8979:Aadacl2 UTSW 3 59,932,545 (GRCm39) missense probably damaging 1.00
R9287:Aadacl2 UTSW 3 59,932,573 (GRCm39) missense probably damaging 1.00
R9674:Aadacl2 UTSW 3 59,914,472 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- AGAGCATTGCCCTTGTTAGCC -3'
(R):5'- CCAGGTTGAAAAGCCCTCAG -3'

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