Incidental Mutation 'R6314:Aadacl2'
ID509921
Institutional Source Beutler Lab
Gene Symbol Aadacl2
Ensembl Gene ENSMUSG00000091376
Gene Namearylacetamide deacetylase like 2
SynonymsEG639634
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R6314 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location60006743-60025420 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60017403 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 130 (R130S)
Ref Sequence ENSEMBL: ENSMUSP00000129444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169794]
Predicted Effect probably damaging
Transcript: ENSMUST00000169794
AA Change: R130S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129444
Gene: ENSMUSG00000091376
AA Change: R130S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195422
Meta Mutation Damage Score 0.5148 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik T C 2: 85,502,176 N168S probably benign Het
4930449I24Rik A C 5: 146,504,892 E283A possibly damaging Het
6430531B16Rik A C 7: 139,976,489 L195R possibly damaging Het
9130204L05Rik A T 3: 91,088,376 V73E possibly damaging Het
Adam22 A T 5: 8,127,365 C581* probably null Het
Adss T A 1: 177,767,768 Y402F probably damaging Het
Agfg1 A T 1: 82,858,434 Q13H probably damaging Het
Ankdd1a C T 9: 65,508,061 A227T possibly damaging Het
Armc8 A G 9: 99,535,884 S74P probably benign Het
Atn1 A T 6: 124,747,050 probably benign Het
BC027072 T G 17: 71,752,457 Q75P probably benign Het
Ddx5 T C 11: 106,788,521 probably benign Het
Depdc1a T A 3: 159,498,414 H33Q probably damaging Het
Dnmt3l A T 10: 78,059,687 Y58F probably benign Het
Efemp1 C T 11: 28,914,603 T219I probably benign Het
Enpp2 T C 15: 54,865,970 N436D probably damaging Het
Epb41l4a A G 18: 33,874,155 V261A probably damaging Het
Erap1 A T 13: 74,674,775 K802N probably damaging Het
Fcrl6 T A 1: 172,598,619 probably null Het
Fv1 A T 4: 147,869,699 probably null Het
Gdpd4 T A 7: 97,973,953 M257K probably damaging Het
Gorab T C 1: 163,397,089 S48G probably damaging Het
Gxylt2 A T 6: 100,798,203 H361L probably damaging Het
Hk1 A G 10: 62,292,444 Y300H possibly damaging Het
Hk3 T C 13: 55,013,580 R156G probably benign Het
Hook3 T A 8: 26,088,108 M118L probably benign Het
Lmnb2 G A 10: 80,909,970 R92C probably damaging Het
Lsr A G 7: 30,958,599 L380P probably damaging Het
Mettl16 A T 11: 74,796,006 R204* probably null Het
Olfr1353 A G 10: 78,970,345 H232R probably benign Het
Olfr186 A T 16: 59,027,457 I150K probably benign Het
Olfr866 C A 9: 20,027,662 S92I probably damaging Het
Orc3 C A 4: 34,579,797 G494C possibly damaging Het
Pip5k1a G T 3: 95,068,121 T346K probably damaging Het
Pitx1 A T 13: 55,826,353 S222T possibly damaging Het
Pm20d1 T C 1: 131,816,016 V473A possibly damaging Het
Pnpla6 C T 8: 3,521,572 L168F probably benign Het
Pramef12 T C 4: 144,394,587 D289G probably damaging Het
Reln C A 5: 22,152,484 E195* probably null Het
Sec24b A T 3: 130,007,245 probably null Het
Selenbp1 A G 3: 94,937,265 N78D probably damaging Het
Serpina1d T A 12: 103,764,700 T340S probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 probably benign Het
Snap29 T C 16: 17,419,319 M98T probably benign Het
Son G T 16: 91,660,410 probably benign Het
Tgfbi A T 13: 56,626,163 T252S probably benign Het
Thsd7a T C 6: 12,554,997 N296S possibly damaging Het
Tmem225 C G 9: 40,150,720 T210S probably benign Het
Tmem245 A T 4: 56,888,592 V778D possibly damaging Het
Tor4a T C 2: 25,194,782 R370G possibly damaging Het
Tubgcp3 T C 8: 12,648,625 H442R probably benign Het
Vmn1r20 A T 6: 57,432,057 M123L probably benign Het
Zfp622 T C 15: 25,986,981 V273A probably benign Het
Zhx1 C T 15: 58,054,002 V283I probably benign Het
Other mutations in Aadacl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Aadacl2 APN 3 60024676 missense probably benign
IGL01626:Aadacl2 APN 3 60019174 missense probably damaging 1.00
IGL01777:Aadacl2 APN 3 60024784 missense possibly damaging 0.61
IGL02189:Aadacl2 APN 3 60025188 missense probably damaging 0.99
IGL03238:Aadacl2 APN 3 60024918 missense probably benign 0.31
R0369:Aadacl2 UTSW 3 60024722 nonsense probably null
R0540:Aadacl2 UTSW 3 60019206 missense possibly damaging 0.50
R1440:Aadacl2 UTSW 3 60024892 missense probably damaging 0.99
R1589:Aadacl2 UTSW 3 60010576 missense probably benign 0.00
R1778:Aadacl2 UTSW 3 60017450 splice site probably null
R1781:Aadacl2 UTSW 3 60024696 missense probably damaging 1.00
R1812:Aadacl2 UTSW 3 60025077 missense probably damaging 1.00
R2411:Aadacl2 UTSW 3 60017423 missense possibly damaging 0.94
R4622:Aadacl2 UTSW 3 60007053 missense probably damaging 1.00
R4698:Aadacl2 UTSW 3 60025039 missense probably benign 0.00
R5326:Aadacl2 UTSW 3 60025063 missense probably damaging 1.00
R5542:Aadacl2 UTSW 3 60025063 missense probably damaging 1.00
R6469:Aadacl2 UTSW 3 60024789 missense probably benign 0.24
R6953:Aadacl2 UTSW 3 60024760 missense possibly damaging 0.78
R7082:Aadacl2 UTSW 3 60024885 missense probably damaging 1.00
R7206:Aadacl2 UTSW 3 60025241 missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CAGTGTCCTCTGCATTGAAATAG -3'
(R):5'- AAGTAGTCAACTTAGGGTCTAATCC -3'

Sequencing Primer
(F):5'- CCTCTGCATTGAAATAGGGGTAG -3'
(R):5'- GACTCCTTTAAAGGGTAGTCTATGC -3'
Posted On2018-04-02