Incidental Mutation 'R6166:Acot2'
ID 490157
Institutional Source Beutler Lab
Gene Symbol Acot2
Ensembl Gene ENSMUSG00000021226
Gene Name acyl-CoA thioesterase 2
Synonyms Mte1, MTE-I
MMRRC Submission 044312-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6166 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 84034635-84040647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84039378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 296 (N296Y)
Ref Sequence ENSEMBL: ENSMUSP00000021649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021649]
AlphaFold Q9QYR9
Predicted Effect probably damaging
Transcript: ENSMUST00000021649
AA Change: N296Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021649
Gene: ENSMUSG00000021226
AA Change: N296Y

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 57 182 3e-45 PFAM
low complexity region 189 202 N/A INTRINSIC
Pfam:BAAT_C 244 451 7.6e-86 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 97% (57/59)
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 acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T A 15: 72,996,089 (GRCm39) I347L probably benign Het
Aldh1l2 C T 10: 83,329,288 (GRCm39) probably null Het
Ap1ar A G 3: 127,606,177 (GRCm39) probably null Het
Arap3 T C 18: 38,107,423 (GRCm39) T1365A probably damaging Het
Arhgef17 A T 7: 100,525,699 (GRCm39) H1966Q probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atg13 G T 2: 91,506,736 (GRCm39) Q479K probably damaging Het
Bmp8a T C 4: 123,218,471 (GRCm39) T183A probably benign Het
Camta2 G C 11: 70,565,087 (GRCm39) probably null Het
Catspere2 A G 1: 177,931,403 (GRCm39) T441A unknown Het
Ccdc40 T C 11: 119,122,827 (GRCm39) S210P probably benign Het
Cnn2 A G 10: 79,824,561 (GRCm39) E17G possibly damaging Het
Cnot6l T C 5: 96,227,799 (GRCm39) D478G possibly damaging Het
Cplane1 A G 15: 8,216,044 (GRCm39) H478R probably benign Het
Csf2rb A G 15: 78,228,766 (GRCm39) Y369C probably damaging Het
Dll4 A G 2: 119,165,107 (GRCm39) probably null Het
Efcab6 A G 15: 83,780,316 (GRCm39) V1039A probably benign Het
Fam117a T C 11: 95,271,607 (GRCm39) M393T possibly damaging Het
Fancd2 T A 6: 113,532,212 (GRCm39) N508K possibly damaging Het
Fat1 T C 8: 45,405,522 (GRCm39) S758P probably damaging Het
Fgf20 T C 8: 40,732,881 (GRCm39) K186E probably damaging Het
Filip1 T C 9: 79,726,736 (GRCm39) K628E probably damaging Het
Fsip2 G T 2: 82,811,071 (GRCm39) K2463N probably benign Het
Gm15446 T A 5: 110,090,646 (GRCm39) Y299* probably null Het
Gm7363 A T 7: 3,986,784 (GRCm39) noncoding transcript Het
Gpx5 A T 13: 21,473,435 (GRCm39) F104I probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hmcn2 G A 2: 31,259,274 (GRCm39) G1038D probably damaging Het
Lgals9 C T 11: 78,862,184 (GRCm39) A134T probably benign Het
Lrba G A 3: 86,261,614 (GRCm39) probably null Het
Lypd10 A T 7: 24,413,644 (GRCm39) Q220L probably benign Het
Naprt T C 15: 75,763,326 (GRCm39) Q439R possibly damaging Het
Ndufs6 G A 13: 73,466,060 (GRCm39) probably benign Het
Nodal C A 10: 61,260,337 (GRCm39) S329R probably damaging Het
Olfm3 T A 3: 114,916,074 (GRCm39) N315K probably damaging Het
Or4k2 C T 14: 50,424,225 (GRCm39) V150I probably benign Het
Or6c3b A T 10: 129,527,148 (GRCm39) I254K probably damaging Het
Or6k2 A G 1: 173,986,659 (GRCm39) T107A probably benign Het
Plg T A 17: 12,617,001 (GRCm39) V373E probably damaging Het
Prdm2 A C 4: 142,861,306 (GRCm39) S661R probably damaging Het
Psg21 A T 7: 18,390,664 (GRCm39) probably benign Het
Rhobtb2 T C 14: 70,035,627 (GRCm39) D148G probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Scaf11 A T 15: 96,322,543 (GRCm39) N116K probably damaging Het
Sf3a3 T C 4: 124,617,177 (GRCm39) probably benign Homo
Slc38a9 T G 13: 112,831,801 (GRCm39) Y184D possibly damaging Het
Sowahc A G 10: 59,058,182 (GRCm39) D106G probably benign Het
Srbd1 T C 17: 86,406,696 (GRCm39) Y563C probably damaging Het
Src A G 2: 157,310,442 (GRCm39) Y359C probably damaging Het
Tbc1d9b A G 11: 50,026,673 (GRCm39) D47G probably damaging Het
Tctn3 T C 19: 40,585,923 (GRCm39) K541E possibly damaging Het
Tgm7 A G 2: 120,929,539 (GRCm39) V245A probably damaging Het
Thbs2 C T 17: 14,900,650 (GRCm39) R519H probably damaging Het
Tm4sf19 T C 16: 32,226,681 (GRCm39) S157P probably damaging Het
Trio C T 15: 27,818,157 (GRCm39) S507N probably damaging Het
Trrap T A 5: 144,718,791 (GRCm39) H152Q possibly damaging Het
Vmn2r56 A G 7: 12,427,947 (GRCm39) L773P probably damaging Het
Vmn2r70 A G 7: 85,215,189 (GRCm39) L115P probably benign Het
Wdr59 C T 8: 112,199,293 (GRCm39) R631H probably damaging Het
Other mutations in Acot2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0417:Acot2 UTSW 12 84,037,387 (GRCm39) missense probably benign 0.36
R1101:Acot2 UTSW 12 84,039,624 (GRCm39) missense probably benign 0.22
R1609:Acot2 UTSW 12 84,039,630 (GRCm39) missense possibly damaging 0.93
R2267:Acot2 UTSW 12 84,037,334 (GRCm39) missense probably damaging 1.00
R7384:Acot2 UTSW 12 84,039,441 (GRCm39) missense probably benign
R7655:Acot2 UTSW 12 84,039,691 (GRCm39) missense probably benign 0.05
R7656:Acot2 UTSW 12 84,039,691 (GRCm39) missense probably benign 0.05
R7682:Acot2 UTSW 12 84,034,698 (GRCm39) missense probably benign 0.01
R7796:Acot2 UTSW 12 84,035,257 (GRCm39) critical splice donor site probably null
R7845:Acot2 UTSW 12 84,039,762 (GRCm39) nonsense probably null
R7864:Acot2 UTSW 12 84,034,796 (GRCm39) missense probably benign 0.02
R9210:Acot2 UTSW 12 84,034,851 (GRCm39) missense probably damaging 1.00
R9486:Acot2 UTSW 12 84,039,426 (GRCm39) missense probably benign 0.03
R9492:Acot2 UTSW 12 84,039,384 (GRCm39) missense probably benign 0.33
X0021:Acot2 UTSW 12 84,034,859 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAAATGCTGATGTTGGCCCAG -3'
(R):5'- ACAGGAAGGTCGTGTCAGAC -3'

Sequencing Primer
(F):5'- GCCCAGGGTTATTTGACTTTC -3'
(R):5'- TGTCAGACCTTTCCACGGGAATG -3'
Posted On 2017-10-10