Incidental Mutation 'R1609:Acot2'
ID 176689
Institutional Source Beutler Lab
Gene Symbol Acot2
Ensembl Gene ENSMUSG00000021226
Gene Name acyl-CoA thioesterase 2
Synonyms Mte1, MTE-I
MMRRC Submission 039646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1609 (G1)
Quality Score 196
Status Validated
Chromosome 12
Chromosomal Location 84034635-84040647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84039630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 380 (R380C)
Ref Sequence ENSEMBL: ENSMUSP00000021649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021649]
AlphaFold Q9QYR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000021649
AA Change: R380C

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021649
Gene: ENSMUSG00000021226
AA Change: R380C

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
Meta Mutation Damage Score 0.7264 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.1%
Validation Efficiency 96% (49/51)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc A T 12: 28,603,993 (GRCm39) D363E probably damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
App C A 16: 84,876,837 (GRCm39) V185L probably damaging Het
Atp5if1 T C 4: 132,258,078 (GRCm39) D47G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cbr4 T A 8: 61,956,192 (GRCm39) Y220N probably damaging Het
Ccdc6 C A 10: 70,002,877 (GRCm39) Q203K probably damaging Het
Cntnap2 T C 6: 45,992,264 (GRCm39) V397A probably benign Het
Dmxl2 A G 9: 54,316,547 (GRCm39) I1613T possibly damaging Het
Dnah14 T C 1: 181,577,742 (GRCm39) S3020P probably damaging Het
Dnah7b T C 1: 46,392,126 (GRCm39) L3829P probably damaging Het
Fbxw25 C T 9: 109,492,578 (GRCm39) C53Y probably benign Het
Fndc1 G T 17: 7,991,598 (GRCm39) H699Q unknown Het
Gnaq G A 19: 16,360,618 (GRCm39) V314M possibly damaging Het
Gpr158 A G 2: 21,788,104 (GRCm39) T582A possibly damaging Het
Mapk1 T C 16: 16,856,170 (GRCm39) probably benign Het
Med1 T A 11: 98,051,996 (GRCm39) H456L possibly damaging Het
Myo6 G A 9: 80,195,499 (GRCm39) probably null Het
Nipbl A G 15: 8,396,148 (GRCm39) Y142H probably damaging Het
Or4c113 A T 2: 88,885,688 (GRCm39) F27L probably benign Het
Or8k24 A G 2: 86,215,838 (GRCm39) I308T probably benign Het
Or8k33 A C 2: 86,383,949 (GRCm39) V173G probably damaging Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pnisr G T 4: 21,871,440 (GRCm39) G387* probably null Het
Pnpla6 T C 8: 3,567,135 (GRCm39) L61P probably damaging Het
Prkra A T 2: 76,463,936 (GRCm39) I242N probably benign Het
Rp1 A G 1: 4,419,424 (GRCm39) S563P probably damaging Het
Rtp3 A G 9: 110,815,085 (GRCm39) probably benign Het
Sema3d A G 5: 12,591,023 (GRCm39) T301A probably damaging Het
Setmar A G 6: 108,053,076 (GRCm39) D190G probably benign Het
Sf3b2 A G 19: 5,345,061 (GRCm39) probably benign Het
Taf4b A G 18: 14,968,938 (GRCm39) K692E probably damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tspan4 A G 7: 141,071,557 (GRCm39) T135A probably damaging Het
Vmn1r22 G T 6: 57,877,733 (GRCm39) Y81* probably null Het
Vmn2r31 T C 7: 7,387,888 (GRCm39) E561G probably damaging Het
Xrn1 A T 9: 95,856,946 (GRCm39) K389N probably benign Het
Zfp277 A T 12: 40,378,719 (GRCm39) N379K 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
R2267:Acot2 UTSW 12 84,037,334 (GRCm39) missense probably damaging 1.00
R6166:Acot2 UTSW 12 84,039,378 (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'- GCTGTTGGGAACACCATCTCCTAC -3'
(R):5'- AAGAAAGTCTGGAGCTGCTGCC -3'

Sequencing Primer
(F):5'- AGGATGAGACTATACCCCCTGTG -3'
(R):5'- TGCCATGCGTCCACCTG -3'
Posted On 2014-04-24