Incidental Mutation 'R7639:Oat'
ID 590130
Institutional Source Beutler Lab
Gene Symbol Oat
Ensembl Gene ENSMUSG00000030934
Gene Name ornithine aminotransferase
Synonyms rhg
MMRRC Submission 045697-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.610) question?
Stock # R7639 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 132159207-132178127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132168530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 163 (I163N)
Ref Sequence ENSEMBL: ENSMUSP00000081544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084500] [ENSMUST00000124096] [ENSMUST00000211545]
AlphaFold P29758
Predicted Effect probably damaging
Transcript: ENSMUST00000084500
AA Change: I163N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081544
Gene: ENSMUSG00000030934
AA Change: I163N

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
Predicted Effect probably benign
Transcript: ENSMUST00000211545
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T A 17: 84,977,531 (GRCm39) M381L probably benign Het
Abl1 T A 2: 31,669,173 (GRCm39) L184Q probably damaging Het
Atp8b1 A G 18: 64,697,614 (GRCm39) V410A possibly damaging Het
Bhmt2 C T 13: 93,799,822 (GRCm39) G205R probably damaging Het
Bicd1 A G 6: 149,414,502 (GRCm39) D405G possibly damaging Het
Brip1 A T 11: 86,043,648 (GRCm39) probably null Het
Ccdc180 A T 4: 45,928,043 (GRCm39) I1193F possibly damaging Het
Cdc14b A G 13: 64,353,143 (GRCm39) C478R possibly damaging Het
Celsr1 C T 15: 85,814,073 (GRCm39) E1950K probably benign Het
Cnot7 A G 8: 40,960,494 (GRCm39) probably null Het
Defa34 A T 8: 22,155,883 (GRCm39) K24I probably benign Het
Dsg4 G T 18: 20,582,769 (GRCm39) D136Y probably damaging Het
Dync2h1 C A 9: 7,141,254 (GRCm39) V1258F probably damaging Het
Erbb3 A G 10: 128,405,716 (GRCm39) S1181P probably damaging Het
Evl A G 12: 108,652,362 (GRCm39) D366G probably damaging Het
Fam234b A T 6: 135,202,798 (GRCm39) probably null Het
Fanca A G 8: 124,018,134 (GRCm39) probably null Het
Fbxo46 T A 7: 18,870,560 (GRCm39) V393E probably damaging Het
Gkap1 T G 13: 58,411,784 (GRCm39) K63T probably damaging Het
Hfm1 T A 5: 107,037,791 (GRCm39) D742V probably benign Het
Hfm1 A G 5: 107,046,341 (GRCm39) V515A possibly damaging Het
Itga10 G A 3: 96,556,898 (GRCm39) V207I probably benign Het
Lipi T A 16: 75,357,743 (GRCm39) Y274F probably benign Het
Mettl8 A T 2: 70,812,526 (GRCm39) S36R probably benign Het
Miip A T 4: 147,947,021 (GRCm39) M244K probably benign Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Nat10 G A 2: 103,573,435 (GRCm39) A354V probably damaging Het
Nav1 T C 1: 135,398,860 (GRCm39) N574S probably benign Het
Nlrc4 C T 17: 74,754,952 (GRCm39) probably null Het
Oas2 C T 5: 120,883,751 (GRCm39) W244* probably null Het
Or7a41 A G 10: 78,871,206 (GRCm39) D192G probably damaging Het
Otop3 T C 11: 115,235,187 (GRCm39) M273T possibly damaging Het
Poln A C 5: 34,290,495 (GRCm39) V60G possibly damaging Het
Ppp1r13b G T 12: 111,800,049 (GRCm39) A699E probably damaging Het
Rims1 A T 1: 22,844,750 (GRCm39) M19K probably benign Het
Rnf145 T C 11: 44,422,184 (GRCm39) L89P probably damaging Het
Rock1 A G 18: 10,140,244 (GRCm39) S116P probably damaging Het
Rtn3 C T 19: 7,435,356 (GRCm39) C212Y probably benign Het
Smcp G A 3: 92,491,797 (GRCm39) P17S unknown Het
Syne2 A C 12: 75,981,273 (GRCm39) E1525A probably damaging Het
Tpra1 A G 6: 88,887,158 (GRCm39) D172G probably benign Het
Traf2 TAGA TA 2: 25,427,100 (GRCm39) probably null Het
Trpa1 T C 1: 14,957,137 (GRCm39) T760A probably benign Het
Unc13c T A 9: 73,840,450 (GRCm39) S134C probably damaging Het
Zfp729b C T 13: 67,739,971 (GRCm39) V765I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCCACTTACTTTAAGAAGGGAGG -3'
(R):5'- TCCCAACAACCAGTCATTTGTTAC -3'

Sequencing Primer
(F):5'- CTGGCATCCATCAGACCTTAG -3'
(R):5'- AGGCTGGCCCTGAATTTATAC -3'
Posted On 2019-10-24