Incidental Mutation 'R2425:Amacr'
ID 250170
Institutional Source Beutler Lab
Gene Symbol Amacr
Ensembl Gene ENSMUSG00000022244
Gene Name alpha-methylacyl-CoA racemase
Synonyms Macr1, 2-arylpropionyl-CoA epimerase
MMRRC Submission 040387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R2425 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 10981875-10995693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10983454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 88 (Q88R)
Ref Sequence ENSEMBL: ENSMUSP00000066915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022853] [ENSMUST00000070877] [ENSMUST00000110523]
AlphaFold O09174
Predicted Effect probably benign
Transcript: ENSMUST00000022853
SMART Domains Protein: ENSMUSP00000022853
Gene: ENSMUSG00000058914

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 54 75 N/A INTRINSIC
low complexity region 78 93 N/A INTRINSIC
C1Q 111 245 2.26e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000070877
AA Change: Q88R

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066915
Gene: ENSMUSG00000022244
AA Change: Q88R

DomainStartEndE-ValueType
Pfam:CoA_transf_3 3 349 1.6e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110523
SMART Domains Protein: ENSMUSP00000106152
Gene: ENSMUSG00000058914

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 127 148 N/A INTRINSIC
low complexity region 151 166 N/A INTRINSIC
C1Q 184 318 2.26e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228886
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null mice display impaired bile acid synthesis and with dietary phytol supplementation develop liver degeneration and induced mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,959,033 (GRCm39) F621S probably damaging Het
Abcc10 A G 17: 46,621,083 (GRCm39) Y976H probably damaging Het
Abhd6 T A 14: 8,049,857 (GRCm38) N215K probably benign Het
Adcy4 T C 14: 56,015,474 (GRCm39) T479A probably damaging Het
Ankrd11 T A 8: 123,619,902 (GRCm39) I1317F possibly damaging Het
Ano3 C A 2: 110,693,188 (GRCm39) A137S probably benign Het
Astn1 T G 1: 158,407,236 (GRCm39) S562A probably damaging Het
Cd44 T A 2: 102,691,931 (GRCm39) Y119F probably damaging Het
CN725425 A C 15: 91,130,058 (GRCm39) D307A probably damaging Het
Col12a1 T C 9: 79,585,648 (GRCm39) Y1243C probably damaging Het
Cyp2c50 T C 19: 40,078,292 (GRCm39) I50T probably benign Het
Dhrs9 A G 2: 69,223,308 (GRCm39) K19E probably benign Het
Dnajb14 T G 3: 137,598,666 (GRCm39) F135V probably null Het
Draxin T A 4: 148,197,213 (GRCm39) T195S possibly damaging Het
Elane C T 10: 79,723,610 (GRCm39) R192C probably benign Het
Fam171a2 A C 11: 102,329,187 (GRCm39) I524S possibly damaging Het
Fbxo10 C T 4: 45,051,642 (GRCm39) E490K possibly damaging Het
Fkbp15 T C 4: 62,230,602 (GRCm39) T704A probably benign Het
Fndc1 T A 17: 8,023,850 (GRCm39) D35V probably damaging Het
Galntl5 A G 5: 25,425,079 (GRCm39) K366E probably damaging Het
Gas7 G A 11: 67,534,121 (GRCm39) A74T probably benign Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gldc T A 19: 30,109,190 (GRCm39) N583Y probably damaging Het
Gpr161 T A 1: 165,138,192 (GRCm39) S259R possibly damaging Het
Igfn1 T A 1: 135,890,840 (GRCm39) T2387S probably damaging Het
Il3 A T 11: 54,156,375 (GRCm39) V119D possibly damaging Het
Ints3 T C 3: 90,301,417 (GRCm39) T822A possibly damaging Het
Jakmip1 C T 5: 37,299,149 (GRCm39) Q790* probably null Het
Kcne1 A G 16: 92,145,646 (GRCm39) I66T probably damaging Het
Nipbl A G 15: 8,380,966 (GRCm39) S609P probably benign Het
Or10d5 T C 9: 39,861,137 (GRCm39) E310G probably null Het
Or2t48 A G 11: 58,420,137 (GRCm39) I225T probably damaging Het
Or8k21 A G 2: 86,144,739 (GRCm39) V297A probably damaging Het
Pdxdc1 A T 16: 13,697,372 (GRCm39) S103T possibly damaging Het
Pla2g2a C A 4: 138,560,229 (GRCm39) A24E possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pramel1 T G 4: 143,125,036 (GRCm39) L320R probably damaging Het
Rad23b T A 4: 55,385,438 (GRCm39) I325N probably damaging Het
Rasgrp1 C G 2: 117,119,931 (GRCm39) probably null Het
Rbm12b1 T A 4: 12,146,443 (GRCm39) I805N probably damaging Het
Shld2 A G 14: 33,990,646 (GRCm39) S87P probably damaging Het
Slc12a9 G T 5: 137,313,859 (GRCm39) A700E probably damaging Het
Tbc1d24 A T 17: 24,404,982 (GRCm39) V54E probably damaging Het
Tmc8 A G 11: 117,683,395 (GRCm39) D650G probably damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Ush2a T A 1: 188,270,001 (GRCm39) N1749K possibly damaging Het
Usp42 T C 5: 143,701,594 (GRCm39) T810A probably benign Het
Wdr70 C A 15: 7,916,840 (GRCm39) E526* probably null Het
Zfp935 G T 13: 62,602,922 (GRCm39) Q93K probably benign Het
Other mutations in Amacr
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0487:Amacr UTSW 15 10,984,835 (GRCm39) missense probably benign 0.26
R0565:Amacr UTSW 15 10,982,032 (GRCm39) missense possibly damaging 0.95
R0965:Amacr UTSW 15 10,984,891 (GRCm39) missense probably damaging 1.00
R3980:Amacr UTSW 15 10,989,015 (GRCm39) nonsense probably null
R4822:Amacr UTSW 15 10,983,496 (GRCm39) missense probably damaging 1.00
R4847:Amacr UTSW 15 10,994,958 (GRCm39) nonsense probably null
R6362:Amacr UTSW 15 10,984,891 (GRCm39) missense probably damaging 0.99
R6668:Amacr UTSW 15 10,983,468 (GRCm39) missense probably benign 0.05
R8296:Amacr UTSW 15 10,995,004 (GRCm39) missense probably benign 0.00
X0062:Amacr UTSW 15 10,988,972 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGTTTGCCCCGTAAAAGG -3'
(R):5'- TCCTGATTTTGGAGCCAGTTC -3'

Sequencing Primer
(F):5'- ATTGGGAAGCTCCTCTCTAGCAG -3'
(R):5'- ATGGCCAGCTACTTTGGA -3'
Posted On 2014-11-12