Incidental Mutation 'R3032:Acox2'
ID 264758
Institutional Source Beutler Lab
Gene Symbol Acox2
Ensembl Gene ENSMUSG00000021751
Gene Name acyl-Coenzyme A oxidase 2, branched chain
Synonyms
MMRRC Submission 040548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R3032 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 14210420-14244262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8253466 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 227 (L227Q)
Ref Sequence ENSEMBL: ENSMUSP00000126464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022271] [ENSMUST00000164598] [ENSMUST00000170534]
AlphaFold Q9QXD1
Predicted Effect probably damaging
Transcript: ENSMUST00000022271
AA Change: L227Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751
AA Change: L227Q

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 32 148 1.2e-28 PFAM
SCOP:d1is2a1 309 478 1e-28 SMART
Pfam:ACOX 492 677 3.2e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164412
Predicted Effect probably damaging
Transcript: ENSMUST00000164598
AA Change: L227Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751
AA Change: L227Q

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 32 148 6.3e-29 PFAM
Pfam:Acyl-CoA_dh_M 150 260 2.8e-11 PFAM
SCOP:d1is2a1 309 478 1e-28 SMART
Pfam:ACOX 495 675 1.3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170534
SMART Domains Protein: ENSMUSP00000130543
Gene: ENSMUSG00000021751

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 32 148 4.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171567
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice heterozygous for an endonuclease-mediated deletion exhibit no detectable phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dpysl4 A G 7: 138,676,152 (GRCm39) N315D probably benign Het
Eps8 A T 6: 137,489,175 (GRCm39) S408T probably damaging Het
F13b A C 1: 139,445,071 (GRCm39) T574P probably damaging Het
Fgfrl1 A G 5: 108,853,926 (GRCm39) I344M probably benign Het
Or5b21 G A 19: 12,839,282 (GRCm39) V48I probably benign Het
Park7 T C 4: 150,985,509 (GRCm39) K122R probably benign Het
Psg18 G A 7: 18,084,904 (GRCm39) S64L probably benign Het
Rhbdf1 T C 11: 32,159,985 (GRCm39) D172G probably damaging Het
Serpinb6b G A 13: 33,152,551 (GRCm39) G20D possibly damaging Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Syt14 A T 1: 192,669,059 (GRCm39) Y65N possibly damaging Het
Tll1 T C 8: 64,551,526 (GRCm39) N285S probably damaging Het
Umodl1 G A 17: 31,208,502 (GRCm39) R849Q probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Other mutations in Acox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Acox2 APN 14 8,246,363 (GRCm38) missense probably damaging 1.00
IGL01845:Acox2 APN 14 8,251,617 (GRCm38) missense probably damaging 1.00
IGL02830:Acox2 APN 14 8,255,298 (GRCm38) missense probably damaging 1.00
R0415:Acox2 UTSW 14 8,243,835 (GRCm38) splice site probably benign
R0535:Acox2 UTSW 14 8,256,753 (GRCm38) missense probably damaging 1.00
R1424:Acox2 UTSW 14 8,230,247 (GRCm38) missense probably benign 0.02
R1836:Acox2 UTSW 14 8,248,059 (GRCm38) missense possibly damaging 0.91
R1862:Acox2 UTSW 14 8,241,416 (GRCm38) missense probably benign 0.07
R1885:Acox2 UTSW 14 8,248,102 (GRCm38) missense probably benign 0.00
R2032:Acox2 UTSW 14 8,246,400 (GRCm38) missense probably benign 0.00
R2268:Acox2 UTSW 14 8,253,496 (GRCm38) missense probably damaging 0.98
R2497:Acox2 UTSW 14 8,251,612 (GRCm38) missense probably benign 0.00
R3842:Acox2 UTSW 14 8,251,543 (GRCm38) missense probably damaging 1.00
R3874:Acox2 UTSW 14 8,248,061 (GRCm38) missense probably benign 0.00
R4763:Acox2 UTSW 14 8,241,334 (GRCm38) missense possibly damaging 0.81
R5072:Acox2 UTSW 14 8,241,374 (GRCm38) nonsense probably null
R5397:Acox2 UTSW 14 8,243,803 (GRCm38) missense probably benign 0.02
R5950:Acox2 UTSW 14 8,255,793 (GRCm38) missense probably benign
R7188:Acox2 UTSW 14 8,252,996 (GRCm38) missense possibly damaging 0.67
R7208:Acox2 UTSW 14 8,241,303 (GRCm38) missense probably benign 0.27
R7315:Acox2 UTSW 14 8,256,139 (GRCm38) missense probably damaging 0.99
R7757:Acox2 UTSW 14 8,230,166 (GRCm38) missense probably damaging 1.00
R7888:Acox2 UTSW 14 8,246,415 (GRCm38) missense probably benign 0.00
R8269:Acox2 UTSW 14 8,246,325 (GRCm38) missense probably benign 0.00
R8531:Acox2 UTSW 14 8,247,960 (GRCm38) missense probably damaging 1.00
R8536:Acox2 UTSW 14 8,256,081 (GRCm38) missense probably benign 0.00
R8782:Acox2 UTSW 14 8,250,035 (GRCm38) missense probably damaging 0.99
R8964:Acox2 UTSW 14 8,243,768 (GRCm38) nonsense probably null
R9183:Acox2 UTSW 14 8,251,559 (GRCm38) missense probably damaging 1.00
R9463:Acox2 UTSW 14 8,256,789 (GRCm38) missense probably damaging 1.00
R9466:Acox2 UTSW 14 8,248,092 (GRCm38) missense probably benign 0.12
Z1177:Acox2 UTSW 14 8,256,852 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGAAGTCAGACAGATGCTGAATC -3'
(R):5'- CTTTCCAAGGACCCAAAGGC -3'

Sequencing Primer
(F):5'- GACAGATGCTGAATCTTATACCAGTC -3'
(R):5'- TTCCAAGGACCCAAAGGCATCTATC -3'
Posted On 2015-02-05