Incidental Mutation 'IGL02114:Qdpr'
ID280282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qdpr
Ensembl Gene ENSMUSG00000015806
Gene Namequinoid dihydropteridine reductase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.293) question?
Stock #IGL02114
Quality Score
Status
Chromosome5
Chromosomal Location45434021-45450236 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 45434676 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 106 (T106I)
Ref Sequence ENSEMBL: ENSMUSP00000143741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015950] [ENSMUST00000117425] [ENSMUST00000118097] [ENSMUST00000120867] [ENSMUST00000154962] [ENSMUST00000197946] [ENSMUST00000198258]
Predicted Effect possibly damaging
Transcript: ENSMUST00000015950
AA Change: T208I

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000015950
Gene: ENSMUSG00000015806
AA Change: T208I

DomainStartEndE-ValueType
Pfam:adh_short 8 195 5.4e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117425
AA Change: T156I

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112469
Gene: ENSMUSG00000015806
AA Change: T156I

DomainStartEndE-ValueType
PDB:1DIR|D 1 189 1e-124 PDB
SCOP:d1hdr__ 7 189 4e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118097
AA Change: T156I

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113958
Gene: ENSMUSG00000015806
AA Change: T156I

DomainStartEndE-ValueType
PDB:1DIR|D 1 189 1e-124 PDB
SCOP:d1hdr__ 7 189 4e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120867
AA Change: T156I

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113203
Gene: ENSMUSG00000015806
AA Change: T156I

DomainStartEndE-ValueType
PDB:1DIR|D 1 189 1e-124 PDB
SCOP:d1hdr__ 7 189 4e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149290
Predicted Effect probably benign
Transcript: ENSMUST00000154962
SMART Domains Protein: ENSMUSP00000122081
Gene: ENSMUSG00000015806

DomainStartEndE-ValueType
PDB:1DIR|D 1 159 7e-72 PDB
SCOP:d1hdr__ 6 159 6e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196216
Predicted Effect possibly damaging
Transcript: ENSMUST00000197946
AA Change: T180I

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143584
Gene: ENSMUSG00000015806
AA Change: T180I

DomainStartEndE-ValueType
PDB:1DIR|D 1 213 1e-125 PDB
SCOP:d1hdr__ 6 162 2e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000198258
AA Change: T106I

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143741
Gene: ENSMUSG00000015806
AA Change: T106I

DomainStartEndE-ValueType
PDB:1DIR|D 1 139 8e-86 PDB
SCOP:d1hdr__ 14 139 6e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200259
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 enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
PHENOTYPE: A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Qdpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0907:Qdpr UTSW 5 45439386 missense probably benign 0.16
R1387:Qdpr UTSW 5 45450138 start gained probably benign
R1964:Qdpr UTSW 5 45439318 missense possibly damaging 0.58
R2431:Qdpr UTSW 5 45444730 missense probably damaging 1.00
R4586:Qdpr UTSW 5 45439327 missense possibly damaging 0.60
R5678:Qdpr UTSW 5 45447637 missense possibly damaging 0.65
R5754:Qdpr UTSW 5 45439385 missense probably damaging 0.98
R7392:Qdpr UTSW 5 45439376 missense probably benign 0.37
X0022:Qdpr UTSW 5 45439355 nonsense probably null
Posted On2015-04-16