Incidental Mutation 'R7939:Qdpr'
ID 648929
Institutional Source Beutler Lab
Gene Symbol Qdpr
Ensembl Gene ENSMUSG00000015806
Gene Name quinoid dihydropteridine reductase
Synonyms 2610008L04Rik
MMRRC Submission 045985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R7939 (G1)
Quality Score 180.009
Status Not validated
Chromosome 5
Chromosomal Location 45591374-45607571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45607407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 13 (Y13C)
Ref Sequence ENSEMBL: ENSMUSP00000015950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015950] [ENSMUST00000053250] [ENSMUST00000117425] [ENSMUST00000118097] [ENSMUST00000120867] [ENSMUST00000127562] [ENSMUST00000154962] [ENSMUST00000197946] [ENSMUST00000198258]
AlphaFold Q8BVI4
Predicted Effect probably damaging
Transcript: ENSMUST00000015950
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015950
Gene: ENSMUSG00000015806
AA Change: Y13C

DomainStartEndE-ValueType
Pfam:adh_short 8 195 5.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053250
SMART Domains Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 102 124 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
low complexity region 176 187 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117425
SMART Domains Protein: ENSMUSP00000112469
Gene: ENSMUSG00000015806

DomainStartEndE-ValueType
PDB:1DIR|D 1 189 1e-124 PDB
SCOP:d1hdr__ 7 189 4e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118097
SMART Domains Protein: ENSMUSP00000113958
Gene: ENSMUSG00000015806

DomainStartEndE-ValueType
PDB:1DIR|D 1 189 1e-124 PDB
SCOP:d1hdr__ 7 189 4e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120867
SMART Domains Protein: ENSMUSP00000113203
Gene: ENSMUSG00000015806

DomainStartEndE-ValueType
PDB:1DIR|D 1 189 1e-124 PDB
SCOP:d1hdr__ 7 189 4e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127562
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115453
Gene: ENSMUSG00000015806
AA Change: Y13C

DomainStartEndE-ValueType
PDB:1DIR|D 1 137 7e-67 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000154962
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122081
Gene: ENSMUSG00000015806
AA Change: Y13C

DomainStartEndE-ValueType
PDB:1DIR|D 1 159 7e-72 PDB
SCOP:d1hdr__ 6 159 6e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197946
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143584
Gene: ENSMUSG00000015806
AA Change: Y13C

DomainStartEndE-ValueType
PDB:1DIR|D 1 213 1e-125 PDB
SCOP:d1hdr__ 6 162 2e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198258
SMART Domains Protein: ENSMUSP00000143741
Gene: ENSMUSG00000015806

DomainStartEndE-ValueType
PDB:1DIR|D 1 139 8e-86 PDB
SCOP:d1hdr__ 14 139 6e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,275,433 (GRCm39) I415T probably damaging Het
Ackr3 A G 1: 90,142,287 (GRCm39) S249G probably benign Het
Adgre1 G T 17: 57,756,938 (GRCm39) A732S probably damaging Het
Ahnak T A 19: 8,991,448 (GRCm39) L4244* probably null Het
Aldh3a2 C A 11: 61,115,424 (GRCm39) C511F probably benign Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd11 A T 8: 123,617,812 (GRCm39) H2013Q probably damaging Het
Atp5mc3 A G 2: 73,740,206 (GRCm39) probably null Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Chtf18 A T 17: 25,941,111 (GRCm39) I629N probably damaging Het
Clstn3 T C 6: 124,439,158 (GRCm39) Y33C probably damaging Het
Cmc2 T C 8: 117,616,513 (GRCm39) R71G unknown Het
Cts7 A T 13: 61,504,364 (GRCm39) N66K probably damaging Het
Cysltr2 C T 14: 73,267,399 (GRCm39) V104I possibly damaging Het
Dnai4 G A 4: 102,953,798 (GRCm39) Q134* probably null Het
Dnm3 C T 1: 162,123,165 (GRCm39) V460I possibly damaging Het
Ecel1 C T 1: 87,077,256 (GRCm39) V651I probably benign Het
Ext2 G A 2: 93,560,601 (GRCm39) R522C probably damaging Het
Farp2 T C 1: 93,487,983 (GRCm39) L70P probably damaging Het
Fnip1 T C 11: 54,393,093 (GRCm39) Y510H probably damaging Het
Gm15446 T C 5: 110,090,360 (GRCm39) V204A probably benign Het
Gm29394 T C 15: 57,912,046 (GRCm39) K53E unknown Het
Gm39115 T C 7: 141,689,768 (GRCm39) T2A unknown Het
Helz2 A G 2: 180,879,543 (GRCm39) W692R probably damaging Het
Htra2 A T 6: 83,028,545 (GRCm39) Y428N probably damaging Het
Khdrbs2 T A 1: 32,212,056 (GRCm39) S20T probably benign Het
Kifap3 C A 1: 163,643,427 (GRCm39) Y217* probably null Het
Mast2 A T 4: 116,287,668 (GRCm39) S136T probably benign Het
Mesp1 C T 7: 79,442,734 (GRCm39) W181* probably null Het
Mtch1 A C 17: 29,559,806 (GRCm39) S158A probably damaging Het
Mtmr10 C A 7: 63,963,899 (GRCm39) S211R probably benign Het
Mtmr9 C A 14: 63,771,973 (GRCm39) Q204H probably damaging Het
Myo5a A G 9: 75,097,182 (GRCm39) N43D Het
Myom3 G T 4: 135,534,589 (GRCm39) probably null Het
Neb T C 2: 52,076,073 (GRCm39) D5903G probably damaging Het
Niban1 T G 1: 151,581,775 (GRCm39) L457R probably damaging Het
Noxred1 A G 12: 87,268,105 (GRCm39) V342A probably benign Het
Nsd2 T A 5: 34,012,933 (GRCm39) S421R probably benign Het
Or10a3 T C 7: 108,480,481 (GRCm39) I111V probably benign Het
Or5p55 T A 7: 107,566,986 (GRCm39) C127* probably null Het
Oxa1l T C 14: 54,604,876 (GRCm39) C270R probably benign Het
Pcdha3 T A 18: 37,080,933 (GRCm39) N558K probably damaging Het
Pcdha7 T C 18: 37,109,063 (GRCm39) V696A possibly damaging Het
Pigl T C 11: 62,349,506 (GRCm39) L74P probably damaging Het
Plch2 G T 4: 155,087,235 (GRCm39) R339S possibly damaging Het
Prdm11 G T 2: 92,843,074 (GRCm39) D128E probably damaging Het
Ptdss1 A G 13: 67,143,411 (GRCm39) T415A probably benign Het
Ptprj A T 2: 90,295,009 (GRCm39) W400R probably damaging Het
Retsat G A 6: 72,581,919 (GRCm39) M355I probably benign Het
Slc24a1 T G 9: 64,835,648 (GRCm39) E826D probably benign Het
Taok3 T C 5: 117,331,902 (GRCm39) F40L probably benign Het
Tecta T C 9: 42,299,519 (GRCm39) T190A probably damaging Het
Tmem220 C A 11: 66,920,850 (GRCm39) T85K probably damaging Het
Traip T C 9: 107,833,077 (GRCm39) F38L probably benign Het
Tspan1 A T 4: 116,024,209 (GRCm39) I18N probably damaging Het
Ttc24 A T 3: 87,981,945 (GRCm39) D40E possibly damaging Het
Ttn A T 2: 76,542,737 (GRCm39) Y33416* probably null Het
Ttn A T 2: 76,576,105 (GRCm39) D24929E probably damaging Het
Vmn2r16 T A 5: 109,487,705 (GRCm39) S193T possibly damaging Het
Vmn2r83 T A 10: 79,314,651 (GRCm39) W300R probably damaging Het
Vps13a C T 19: 16,718,155 (GRCm39) V522M possibly damaging Het
Wdr17 C A 8: 55,140,677 (GRCm39) R232L probably damaging Het
Wtap A T 17: 13,200,683 (GRCm39) Y33* probably null Het
Zc3h10 A T 10: 128,380,376 (GRCm39) V327E probably damaging Het
Zfp658 T C 7: 43,224,301 (GRCm39) S859P possibly damaging Het
Zfp874b A T 13: 67,622,622 (GRCm39) C225* probably null Het
Zfp980 A T 4: 145,428,582 (GRCm39) H437L probably damaging Het
Other mutations in Qdpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Qdpr APN 5 45,592,018 (GRCm39) missense possibly damaging 0.93
R0907:Qdpr UTSW 5 45,596,728 (GRCm39) missense probably benign 0.16
R1387:Qdpr UTSW 5 45,607,480 (GRCm39) start gained probably benign
R1964:Qdpr UTSW 5 45,596,660 (GRCm39) missense possibly damaging 0.58
R2431:Qdpr UTSW 5 45,602,072 (GRCm39) missense probably damaging 1.00
R4586:Qdpr UTSW 5 45,596,669 (GRCm39) missense possibly damaging 0.60
R5678:Qdpr UTSW 5 45,604,979 (GRCm39) missense possibly damaging 0.65
R5754:Qdpr UTSW 5 45,596,727 (GRCm39) missense probably damaging 0.98
R7392:Qdpr UTSW 5 45,596,718 (GRCm39) missense probably benign 0.37
R8482:Qdpr UTSW 5 45,596,688 (GRCm39) missense probably benign 0.05
R8891:Qdpr UTSW 5 45,604,982 (GRCm39) missense probably damaging 0.99
R8993:Qdpr UTSW 5 45,607,386 (GRCm39) missense probably damaging 1.00
R9445:Qdpr UTSW 5 45,596,669 (GRCm39) missense probably benign
X0022:Qdpr UTSW 5 45,596,697 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCTAGCACTTAAACGGCG -3'
(R):5'- CTATTGGTCGAAGCAGGAGG -3'

Sequencing Primer
(F):5'- TCACTAGGCTAGTAACTTAGGGC -3'
(R):5'- GTGGCTCCGCAATGTCTC -3'
Posted On 2020-09-15