Incidental Mutation 'R1127:Aadacl2fm2'
ID 96266
Institutional Source Beutler Lab
Gene Symbol Aadacl2fm2
Ensembl Gene ENSMUSG00000090527
Gene Name AADACL2 family member 2
Synonyms Gm5538
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1127 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 59637211-59659754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59659314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 256 (E256K)
Ref Sequence ENSEMBL: ENSMUSP00000128877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168156]
AlphaFold W4VSP6
Predicted Effect probably benign
Transcript: ENSMUST00000168156
AA Change: E256K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: E256K

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:DUF2424 70 214 9.3e-9 PFAM
Pfam:COesterase 91 236 5.4e-10 PFAM
Pfam:Abhydrolase_3 107 287 6.6e-36 PFAM
Pfam:Abhydrolase_3 271 375 1.4e-13 PFAM
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T probably damaging Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A probably damaging Het
Other mutations in Aadacl2fm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Aadacl2fm2 APN 3 59,659,542 (GRCm39) missense possibly damaging 0.91
IGL00934:Aadacl2fm2 APN 3 59,659,474 (GRCm39) missense probably benign 0.00
IGL02335:Aadacl2fm2 APN 3 59,651,026 (GRCm39) missense probably benign
IGL02709:Aadacl2fm2 APN 3 59,654,619 (GRCm39) missense probably damaging 1.00
IGL03114:Aadacl2fm2 APN 3 59,651,144 (GRCm39) missense possibly damaging 0.55
R0107:Aadacl2fm2 UTSW 3 59,659,737 (GRCm39) missense possibly damaging 0.78
R0591:Aadacl2fm2 UTSW 3 59,659,550 (GRCm39) nonsense probably null
R0850:Aadacl2fm2 UTSW 3 59,659,669 (GRCm39) missense possibly damaging 0.80
R1916:Aadacl2fm2 UTSW 3 59,652,924 (GRCm39) missense possibly damaging 0.48
R3008:Aadacl2fm2 UTSW 3 59,652,930 (GRCm39) missense possibly damaging 0.93
R3921:Aadacl2fm2 UTSW 3 59,659,498 (GRCm39) missense probably damaging 0.98
R4368:Aadacl2fm2 UTSW 3 59,659,387 (GRCm39) missense probably damaging 1.00
R5240:Aadacl2fm2 UTSW 3 59,659,449 (GRCm39) missense probably damaging 0.99
R5268:Aadacl2fm2 UTSW 3 59,659,444 (GRCm39) missense probably damaging 0.99
R5511:Aadacl2fm2 UTSW 3 59,654,685 (GRCm39) missense probably damaging 1.00
R5564:Aadacl2fm2 UTSW 3 59,659,513 (GRCm39) missense probably benign
R5812:Aadacl2fm2 UTSW 3 59,654,693 (GRCm39) missense probably damaging 1.00
R5981:Aadacl2fm2 UTSW 3 59,659,299 (GRCm39) missense probably benign
R6049:Aadacl2fm2 UTSW 3 59,659,570 (GRCm39) missense probably damaging 1.00
R6195:Aadacl2fm2 UTSW 3 59,659,623 (GRCm39) missense probably damaging 0.98
R6353:Aadacl2fm2 UTSW 3 59,659,529 (GRCm39) missense probably damaging 1.00
R6449:Aadacl2fm2 UTSW 3 59,652,972 (GRCm39) missense probably damaging 1.00
R6845:Aadacl2fm2 UTSW 3 59,659,539 (GRCm39) missense probably damaging 1.00
R7382:Aadacl2fm2 UTSW 3 59,651,037 (GRCm39) missense probably benign 0.18
R7585:Aadacl2fm2 UTSW 3 59,651,143 (GRCm39) missense possibly damaging 0.94
R7827:Aadacl2fm2 UTSW 3 59,651,112 (GRCm39) missense probably damaging 0.99
R7844:Aadacl2fm2 UTSW 3 59,637,318 (GRCm39) missense probably benign 0.32
R8308:Aadacl2fm2 UTSW 3 59,659,570 (GRCm39) missense probably damaging 1.00
R8830:Aadacl2fm2 UTSW 3 59,654,744 (GRCm39) missense probably benign 0.03
R9447:Aadacl2fm2 UTSW 3 59,651,051 (GRCm39) missense probably damaging 0.96
R9557:Aadacl2fm2 UTSW 3 59,659,160 (GRCm39) missense possibly damaging 0.89
Z1176:Aadacl2fm2 UTSW 3 59,654,615 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- ATGCTATCATCTCTGGGACTTCCTTGA -3'
(R):5'- AGCCGTGTGCTGTAAATAAGACCATC -3'

Sequencing Primer
(F):5'- CATACTGTGAATAACTGCATGGG -3'
(R):5'- CTGCTATCCAAAAGTGCTGG -3'
Posted On 2014-01-05