Incidental Mutation 'P0042:Oat'
ID 7738
Institutional Source Beutler Lab
Gene Symbol Oat
Ensembl Gene ENSMUSG00000030934
Gene Name ornithine aminotransferase
Synonyms rhg
MMRRC Submission 038290-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.610) question?
Stock # P0042 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 132159207-132178127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132164374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 238 (V238A)
Ref Sequence ENSEMBL: ENSMUSP00000081544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084500] [ENSMUST00000124096]
AlphaFold P29758
Predicted Effect possibly damaging
Transcript: ENSMUST00000084500
AA Change: V238A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081544
Gene: ENSMUSG00000030934
AA Change: V238A

DomainStartEndE-ValueType
Pfam:Aminotran_3 50 436 3.6e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Meta Mutation Damage Score 0.6911 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 74.4%
  • 10x: 52.2%
  • 20x: 29.5%
Validation Efficiency 88% (87/99)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]
PHENOTYPE: Null mutants show neonatal hypoornithinemia and increased mortality prevented by administering arginine. Homozygotes for a spontaneous G353A point mutation have neonatal hypoornithinemia, adult hyperornithinemia, growth retardation, retarded fur development, cataracts, and retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 A G 1: 90,142,600 (GRCm39) E353G probably damaging Het
Cercam T A 2: 29,771,095 (GRCm39) D497E probably damaging Het
Eif5a A T 11: 69,808,728 (GRCm39) probably benign Het
Htr4 T A 18: 62,546,748 (GRCm39) D100E probably damaging Het
Ift172 T C 5: 31,418,799 (GRCm39) K1172E probably benign Het
Inpp5b G A 4: 124,691,703 (GRCm39) probably null Het
Klc2 A G 19: 5,163,805 (GRCm39) probably benign Het
Myh13 T A 11: 67,225,817 (GRCm39) L332M probably benign Het
Naca T C 10: 127,877,422 (GRCm39) probably benign Het
Rabep1 A G 11: 70,775,801 (GRCm39) probably benign Het
Snx13 A G 12: 35,157,541 (GRCm39) D529G probably damaging Het
Urod T A 4: 116,850,143 (GRCm39) L23F probably damaging Het
Zcchc2 C T 1: 105,958,727 (GRCm39) T1066I possibly damaging Het
Other mutations in Oat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Oat APN 7 132,168,902 (GRCm39) splice site probably null
IGL02697:Oat APN 7 132,171,684 (GRCm39) splice site probably null
R1279:Oat UTSW 7 132,168,809 (GRCm39) missense probably damaging 1.00
R1528:Oat UTSW 7 132,165,998 (GRCm39) missense probably damaging 1.00
R1602:Oat UTSW 7 132,171,736 (GRCm39) missense probably benign
R1938:Oat UTSW 7 132,159,934 (GRCm39) missense probably benign 0.01
R4899:Oat UTSW 7 132,165,951 (GRCm39) missense probably benign 0.41
R5729:Oat UTSW 7 132,159,984 (GRCm39) missense probably damaging 1.00
R7270:Oat UTSW 7 132,168,927 (GRCm39) missense probably benign
R7639:Oat UTSW 7 132,168,530 (GRCm39) missense probably damaging 1.00
R7718:Oat UTSW 7 132,159,988 (GRCm39) missense probably benign 0.03
R7902:Oat UTSW 7 132,161,393 (GRCm39) missense probably benign 0.02
R9149:Oat UTSW 7 132,166,006 (GRCm39) missense probably benign 0.02
Posted On 2012-10-29