Incidental Mutation 'IGL03063:Dao'
ID409537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dao
Ensembl Gene ENSMUSG00000042096
Gene NameD-amino acid oxidase
SynonymsDao-1, DAO, Dao1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03063
Quality Score
Status
Chromosome5
Chromosomal Location114003703-114025682 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114021015 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 261 (C261R)
Ref Sequence ENSEMBL: ENSMUSP00000125588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086599] [ENSMUST00000112292] [ENSMUST00000161610]
Predicted Effect probably benign
Transcript: ENSMUST00000086599
SMART Domains Protein: ENSMUSP00000083792
Gene: ENSMUSG00000042096

DomainStartEndE-ValueType
Pfam:DAO 2 245 1.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112292
AA Change: C261R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107911
Gene: ENSMUSG00000042096
AA Change: C261R

DomainStartEndE-ValueType
Pfam:DAO 2 327 1.8e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161610
AA Change: C261R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125588
Gene: ENSMUSG00000042096
AA Change: C261R

DomainStartEndE-ValueType
Pfam:DAO 2 327 4.5e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162214
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased levels of D-serine and a decrease in the severity of behavioral effects induced by NMDA receptor antagonists. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 46,016,432 V255I probably benign Het
Arfgef2 T C 2: 166,859,782 probably benign Het
Bpifb2 A T 2: 153,889,124 Q205L probably damaging Het
Ccdc30 C T 4: 119,349,767 R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,354,877 probably null Het
Comtd1 A G 14: 21,847,667 probably null Het
Dner A G 1: 84,585,338 V187A possibly damaging Het
Dsg3 T C 18: 20,533,368 probably benign Het
Eif3j2 A G 18: 43,477,379 L123P possibly damaging Het
Esf1 G A 2: 140,154,786 probably benign Het
Exo5 G A 4: 120,921,633 T345I possibly damaging Het
Fancl A T 11: 26,387,299 I29F probably damaging Het
Gadl1 C T 9: 115,966,267 H313Y probably damaging Het
Gm17190 G A 13: 96,082,762 probably benign Het
Gtf3c1 G T 7: 125,646,503 T1580N possibly damaging Het
Gtf3c6 T A 10: 40,251,159 I66L probably benign Het
Hhla1 A G 15: 65,941,790 I231T probably damaging Het
Hk2 A G 6: 82,739,649 Y273H probably damaging Het
Hk2 A G 6: 82,749,232 I83T probably benign Het
Ifit1 T C 19: 34,648,004 V180A possibly damaging Het
Igkv9-129 A T 6: 67,840,188 D92V probably damaging Het
Lrrc1 A G 9: 77,499,269 F36S probably damaging Het
Man1b1 A G 2: 25,334,404 E102G possibly damaging Het
Myh8 A G 11: 67,288,205 S475G probably benign Het
Olfr593 T A 7: 103,212,634 V247D probably damaging Het
Otud4 T A 8: 79,663,790 M343K probably benign Het
Peg10 A T 6: 4,756,647 probably benign Het
Plet1 T A 9: 50,504,422 N197K probably benign Het
Ppp1r12a C T 10: 108,261,254 R243C probably damaging Het
Serpinb10 A T 1: 107,542,227 K146N possibly damaging Het
Sis A G 3: 72,928,297 F911L probably benign Het
Spon1 G A 7: 114,033,025 V528M possibly damaging Het
Tdrd9 T C 12: 112,044,299 V1100A probably benign Het
Tmtc3 T C 10: 100,447,606 M696V probably benign Het
Triobp A G 15: 78,990,884 E122G probably damaging Het
Wt1 G A 2: 105,170,023 probably null Het
Other mutations in Dao
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Dao APN 5 114023820 splice site probably benign
IGL02499:Dao APN 5 114013941 missense possibly damaging 0.77
IGL03054:Dao UTSW 5 114024902 missense probably damaging 1.00
R0127:Dao UTSW 5 114019963 missense probably damaging 1.00
R4461:Dao UTSW 5 114019926 missense probably damaging 1.00
R4747:Dao UTSW 5 114012632 missense probably benign 0.12
R5176:Dao UTSW 5 114020009 critical splice donor site probably null
R5226:Dao UTSW 5 114021033 missense probably benign 0.00
R7388:Dao UTSW 5 114015212 makesense probably null
R8018:Dao UTSW 5 114015209 critical splice donor site probably benign
R8020:Dao UTSW 5 114015209 critical splice donor site probably benign
R8045:Dao UTSW 5 114015209 critical splice donor site probably benign
Posted On2016-08-02