Incidental Mutation 'R1602:Oat'
ID176206
Institutional Source Beutler Lab
Gene Symbol Oat
Ensembl Gene ENSMUSG00000030934
Gene Nameornithine aminotransferase
Synonymsrhg
MMRRC Submission 039639-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.445) question?
Stock #R1602 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location132557478-132576398 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 132570007 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 33 (T33K)
Ref Sequence ENSEMBL: ENSMUSP00000081544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084500] [ENSMUST00000124096] [ENSMUST00000211545]
Predicted Effect probably benign
Transcript: ENSMUST00000084500
AA Change: T33K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081544
Gene: ENSMUSG00000030934
AA Change: T33K

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
Meta Mutation Damage Score 0.0701 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.4%
Validation Efficiency 91% (49/54)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 65,983,688 Y1583* probably null Het
Ankrd34c T C 9: 89,729,005 T428A possibly damaging Het
Arfgef1 G C 1: 10,204,890 I312M probably benign Het
Atr T C 9: 95,951,557 L2620P probably damaging Het
Ccdc110 A G 8: 45,938,918 Y54C probably benign Het
Cecr2 T C 6: 120,755,587 V480A possibly damaging Het
Chfr A G 5: 110,151,665 D308G probably benign Het
Cit T A 5: 115,997,730 I1919N probably damaging Het
Ctsc T A 7: 88,278,304 D34E possibly damaging Het
Diaph3 T A 14: 87,091,158 probably benign Het
Dnah6 T A 6: 73,067,469 I3220F probably damaging Het
Elmod3 A G 6: 72,569,259 probably null Het
Fam35a A G 14: 34,267,650 I433T probably damaging Het
Fgd5 T C 6: 92,066,184 V1215A possibly damaging Het
Filip1 T C 9: 79,820,591 M249V probably damaging Het
Fmn1 C T 2: 113,525,623 P803L unknown Het
Gcfc2 A G 6: 81,944,420 K469R probably damaging Het
Gm12169 T C 11: 46,535,588 I174T probably benign Het
Gm6803 C A 12: 88,018,364 E136D probably benign Het
Gm8994 G A 6: 136,328,780 A80T probably damaging Het
Itgad A G 7: 128,190,939 T637A probably damaging Het
Kank2 T C 9: 21,769,837 S799G probably damaging Het
Kcnc4 A T 3: 107,448,204 D309E possibly damaging Het
Lamc2 G A 1: 153,127,028 T1069M probably benign Het
Lepr T A 4: 101,745,645 M210K possibly damaging Het
Lig3 T C 11: 82,792,194 probably null Het
Olfr1356 T A 10: 78,846,968 M316L probably benign Het
Olfr1368 T C 13: 21,142,650 M136V probably damaging Het
Olfr32 A G 2: 90,139,055 F28S probably damaging Het
Pcnx3 G T 19: 5,672,515 A1383E probably damaging Het
Pctp T C 11: 89,988,735 Y100C probably damaging Het
Pex6 G T 17: 46,712,137 R213L probably benign Het
Phlpp2 T C 8: 109,934,023 L770S possibly damaging Het
Pkn2 A T 3: 142,853,538 D75E possibly damaging Het
Pla2g12b T C 10: 59,421,553 probably null Het
Plch2 C T 4: 154,984,450 V1135I probably damaging Het
Pskh1 T A 8: 105,912,821 S44R probably benign Het
Ptpa G T 2: 30,437,590 A119S probably benign Het
Slfn3 A G 11: 83,212,715 I137M probably damaging Het
St6galnac1 A T 11: 116,769,287 S67T probably benign Het
Treml1 A G 17: 48,364,889 E137G probably damaging Het
Ubr2 A C 17: 46,941,061 C1518G probably benign Het
Vmn2r55 A T 7: 12,652,644 C470S probably damaging Het
Other mutations in Oat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Oat APN 7 132567173 unclassified probably null
IGL02697:Oat APN 7 132569955 unclassified probably null
P0042:Oat UTSW 7 132562645 missense possibly damaging 0.93
R1279:Oat UTSW 7 132567080 missense probably damaging 1.00
R1528:Oat UTSW 7 132564269 missense probably damaging 1.00
R1938:Oat UTSW 7 132558205 missense probably benign 0.01
R4899:Oat UTSW 7 132564222 missense probably benign 0.41
R5729:Oat UTSW 7 132558255 missense probably damaging 1.00
R7270:Oat UTSW 7 132567198 missense probably benign
R7639:Oat UTSW 7 132566801 missense probably damaging 1.00
R7718:Oat UTSW 7 132558259 missense probably benign 0.03
R7902:Oat UTSW 7 132559664 missense probably benign 0.02
R7985:Oat UTSW 7 132559664 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACAAGGCATTCAGTGCGGCTTAC -3'
(R):5'- AGTTAAAAGACCACCCTGGGCTTTC -3'

Sequencing Primer
(F):5'- TCAGTGCGGCTTACACATGAG -3'
(R):5'- GGTACAAAATGGTTCACAGTCTCTC -3'
Posted On2014-04-24