Incidental Mutation 'R7902:Oat'
ID 610046
Institutional Source Beutler Lab
Gene Symbol Oat
Ensembl Gene ENSMUSG00000030934
Gene Name ornithine aminotransferase
Synonyms rhg
MMRRC Submission 045954-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.610) question?
Stock # R7902 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 132159207-132178127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132161393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 381 (V381I)
Ref Sequence ENSEMBL: ENSMUSP00000081544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084500] [ENSMUST00000124096]
AlphaFold P29758
Predicted Effect probably benign
Transcript: ENSMUST00000084500
AA Change: V381I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000081544
Gene: ENSMUSG00000030934
AA Change: V381I

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 0.1779 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (34/35)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adamts14 T C 10: 61,041,176 (GRCm39) S842G possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Ccdc7a A G 8: 129,562,654 (GRCm39) I1108T possibly damaging Het
Col12a1 T A 9: 79,548,863 (GRCm39) M2161L probably benign Het
Col14a1 T C 15: 55,364,832 (GRCm39) I1647T probably benign Het
Defb26 A T 2: 152,350,156 (GRCm39) C41* probably null Het
Dennd3 T G 15: 73,439,964 (GRCm39) probably benign Het
Edem1 C T 6: 108,831,338 (GRCm39) R600W possibly damaging Het
F13a1 C A 13: 37,172,913 (GRCm39) G156W probably damaging Het
Foxk2 A G 11: 121,190,553 (GRCm39) T565A probably benign Het
Fsip2 A T 2: 82,808,168 (GRCm39) I1496F possibly damaging Het
Fyb1 T C 15: 6,690,197 (GRCm39) probably null Het
Gapdhs T C 7: 30,436,146 (GRCm39) Y148C probably damaging Het
H1f3 T C 13: 23,739,505 (GRCm39) I81T probably damaging Het
Hddc2 A T 10: 31,192,289 (GRCm39) R64S probably damaging Het
Hddc2 T A 10: 31,196,338 (GRCm39) probably null Het
Klk10 T A 7: 43,432,942 (GRCm39) S113T probably benign Het
Lin7a T C 10: 107,159,843 (GRCm39) S52P possibly damaging Het
Nbeal1 A T 1: 60,331,029 (GRCm39) I2213L probably damaging Het
Nbeal2 T C 9: 110,466,615 (GRCm39) T763A probably benign Het
Nlrp4a T A 7: 26,149,482 (GRCm39) I363N possibly damaging Het
Or52n2c A G 7: 104,574,557 (GRCm39) L138P probably damaging Het
Plpp2 A T 10: 79,363,378 (GRCm39) I207N possibly damaging Het
Rps6ka4 T C 19: 6,808,679 (GRCm39) E522G possibly damaging Het
Sars2 T C 7: 28,441,628 (GRCm39) V63A probably benign Het
Sgf29 C T 7: 126,271,350 (GRCm39) R209C probably damaging Het
Sptbn1 G A 11: 30,086,048 (GRCm39) A1220V probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tnrc18 T C 5: 142,757,902 (GRCm39) E1055G Het
Vmn1r158 A T 7: 22,489,433 (GRCm39) C259S possibly damaging Het
Vmn2r120 T G 17: 57,816,244 (GRCm39) I704L possibly damaging Het
Vwa8 A G 14: 79,329,731 (GRCm39) S1188G probably benign Het
Zfp12 A G 5: 143,231,535 (GRCm39) K653E probably damaging Het
Zfp933 T A 4: 147,911,058 (GRCm39) R179S probably damaging Het
Zfp937 A T 2: 150,080,681 (GRCm39) H237L probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably 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
P0042:Oat UTSW 7 132,164,374 (GRCm39) missense possibly damaging 0.93
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
R9149:Oat UTSW 7 132,166,006 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTTAAACATGCCTTCCTGTTGG -3'
(R):5'- GACATCACTTGGGTCTCTGTC -3'

Sequencing Primer
(F):5'- TCCTGTTGGAAAGATCAACATTTAAG -3'
(R):5'- ATCACACGGGCATATTGCTTG -3'
Posted On 2019-12-20