Incidental Mutation 'R6668:Amacr'
ID 527081
Institutional Source Beutler Lab
Gene Symbol Amacr
Ensembl Gene ENSMUSG00000022244
Gene Name alpha-methylacyl-CoA racemase
Synonyms Macr1, 2-arylpropionyl-CoA epimerase
MMRRC Submission 044788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R6668 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 10981875-10995693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10983468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 93 (T93A)
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 probably benign
Transcript: ENSMUST00000070877
AA Change: T93A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066915
Gene: ENSMUSG00000022244
AA Change: T93A

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G T 11: 116,486,868 (GRCm39) probably benign Het
Adam26b A T 8: 43,973,727 (GRCm39) V425D possibly damaging Het
Ahctf1 A G 1: 179,579,972 (GRCm39) S2077P probably benign Het
Arsb T A 13: 93,930,728 (GRCm39) probably null Het
Bcas3 G A 11: 85,692,677 (GRCm39) R354Q probably damaging Het
Chia1 C T 3: 106,038,264 (GRCm39) L387F probably damaging Het
Cyp24a1 A T 2: 170,327,805 (GRCm39) probably null Het
Dennd4a G A 9: 64,794,247 (GRCm39) G689S probably damaging Het
Elovl4 G A 9: 83,688,039 (GRCm39) A18V probably benign Het
Fam135a A T 1: 24,067,929 (GRCm39) V80E probably damaging Het
Fmo2 T A 1: 162,704,617 (GRCm39) T430S probably benign Het
Fpgs T C 2: 32,577,618 (GRCm39) I213V probably benign Het
Gm10134 A T 2: 28,396,263 (GRCm39) R53* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Ift172 T C 5: 31,412,683 (GRCm39) N1524S probably benign Het
Kif1b G A 4: 149,297,864 (GRCm39) S1104F probably benign Het
Map3k21 T C 8: 126,652,852 (GRCm39) V326A possibly damaging Het
Mlst8 A G 17: 24,696,453 (GRCm39) probably null Het
Muc16 A T 9: 18,551,681 (GRCm39) S4871T probably benign Het
Myo1d A G 11: 80,474,701 (GRCm39) probably benign Het
Ndufa3 A G 7: 3,622,465 (GRCm39) Y41C probably damaging Het
Nfkbid T A 7: 30,123,866 (GRCm39) L142Q probably benign Het
Or8b38 T A 9: 37,973,066 (GRCm39) M150K possibly damaging Het
Peg10 T A 6: 4,754,502 (GRCm39) D94E probably benign Het
Phactr3 A T 2: 177,974,657 (GRCm39) I492F probably damaging Het
Plxna2 T C 1: 194,492,396 (GRCm39) V1751A possibly damaging Het
Prss16 T C 13: 22,190,918 (GRCm39) E238G probably null Het
Rad51ap2 T C 12: 11,507,647 (GRCm39) V523A probably benign Het
Rbm33 T A 5: 28,547,498 (GRCm39) S223T probably benign Het
Ryk T A 9: 102,746,475 (GRCm39) F137I possibly damaging Het
Sars2 G A 7: 28,446,429 (GRCm39) E194K probably benign Het
Spata2l T C 8: 123,960,167 (GRCm39) D374G probably damaging Het
Tenm2 A G 11: 35,937,592 (GRCm39) probably null Het
Ubr4 A G 4: 139,192,652 (GRCm39) K1097E probably damaging Het
Ulk4 A T 9: 121,017,408 (GRCm39) V690E probably damaging Het
Usp34 A G 11: 23,410,659 (GRCm39) N2703S probably damaging Het
Zfp273 C G 13: 67,973,243 (GRCm39) L124V probably damaging Het
Zfp608 A G 18: 55,031,091 (GRCm39) S950P probably damaging Het
Zfp994 A T 17: 22,420,081 (GRCm39) H289Q probably damaging 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
R2425:Amacr UTSW 15 10,983,454 (GRCm39) missense possibly damaging 0.67
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
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'- TGTACTTCCTGATTTTGGAGCC -3'

Sequencing Primer
(F):5'- ATTGGGAAGCTCCTCTCTAGCAG -3'
(R):5'- GTACTTCCTGATTTTGGAGCCAGTTC -3'
Posted On 2018-07-23