Incidental Mutation 'R1024:Hpd'
ID 94718
Institutional Source Beutler Lab
Gene Symbol Hpd
Ensembl Gene ENSMUSG00000029445
Gene Name 4-hydroxyphenylpyruvic acid dioxygenase
Synonyms Fla, Hppd, Flp, Laf
MMRRC Submission 039126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R1024 (G1)
Quality Score 124
Status Not validated
Chromosome 5
Chromosomal Location 123309870-123320786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123312532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 279 (R279H)
Ref Sequence ENSEMBL: ENSMUSP00000031398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031398] [ENSMUST00000154713]
AlphaFold P49429
Predicted Effect possibly damaging
Transcript: ENSMUST00000031398
AA Change: R279H

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: R279H

DomainStartEndE-ValueType
Pfam:Glyoxalase 18 138 5.6e-10 PFAM
Pfam:Glyoxalase_4 20 134 7.7e-10 PFAM
Pfam:Glyoxalase_2 24 147 4.5e-9 PFAM
Pfam:Glyoxalase 180 335 2.1e-21 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000118702
Gene: ENSMUSG00000029445
AA Change: R10H

DomainStartEndE-ValueType
PDB:1SQI|B 2 89 4e-51 PDB
SCOP:d1cjxa2 3 89 3e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154713
SMART Domains Protein: ENSMUSP00000121922
Gene: ENSMUSG00000029445

DomainStartEndE-ValueType
SCOP:d1cjxa1 1 122 3e-13 SMART
PDB:1SQI|B 1 159 1e-113 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199260
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.6%
  • 20x: 90.2%
Validation Efficiency 90% (36/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: CBA, C3H, DBA/2, SM and AKR have the F.1 form of this soluble liver antigen; A/J, A2G, BALB/c and C57BL/10 the F.2 form. F.2 antigen induces precipitating antibodies in F.1 but not F.2 strains and vice versa. F antigen immune response requires H2 Kk or Ak alleles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T C 7: 75,327,157 (GRCm39) S719P probably damaging Het
Atxn2l A T 7: 126,096,466 (GRCm39) N425K probably benign Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Cacna2d2 T C 9: 107,404,249 (GRCm39) probably null Het
Ccar2 A G 14: 70,377,964 (GRCm39) S674P probably damaging Het
Ccm2 T A 11: 6,520,119 (GRCm39) Y56* probably null Het
Cdc14b A T 13: 64,363,490 (GRCm39) V257E probably damaging Het
Cdca8 A C 4: 124,815,798 (GRCm39) S171R probably benign Het
Cep192 C T 18: 67,971,125 (GRCm39) T1042I probably benign Het
Cfap100 T A 6: 90,389,986 (GRCm39) T101S possibly damaging Het
Cfap46 T A 7: 139,222,513 (GRCm39) M1155L probably benign Het
Cyp3a13 T A 5: 137,892,626 (GRCm39) I473F possibly damaging Het
Dclk3 A G 9: 111,298,138 (GRCm39) I561V possibly damaging Het
Dock6 A T 9: 21,744,908 (GRCm39) L556H probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Drd1 T A 13: 54,207,333 (GRCm39) M294L probably benign Het
Dsel A G 1: 111,788,403 (GRCm39) S711P probably damaging Het
Fcho2 A T 13: 98,869,167 (GRCm39) I568N probably damaging Het
Folr1 A G 7: 101,507,810 (GRCm39) M210T probably damaging Het
Gatc T A 5: 115,478,904 (GRCm39) probably null Het
Gja8 A T 3: 96,826,740 (GRCm39) F307L probably benign Het
H1f7 G A 15: 98,154,636 (GRCm39) T171I unknown Het
Hnrnpd C A 5: 100,114,016 (GRCm39) *87L probably null Het
Igfals G A 17: 25,099,457 (GRCm39) V183M probably damaging Het
Izumo1 A G 7: 45,276,598 (GRCm39) Y387C probably benign Het
Kdm5a A G 6: 120,375,999 (GRCm39) N585S probably null Het
Marchf2 C A 17: 33,928,762 (GRCm39) G45C probably damaging Het
Myo15a A T 11: 60,370,442 (GRCm39) R1067S probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Nell1 A G 7: 49,770,411 (GRCm39) S157G probably damaging Het
Nf1 A T 11: 79,437,859 (GRCm39) E2072D probably damaging Het
Nipal1 CGGG CGG 5: 72,825,334 (GRCm39) probably null Het
Nop2 T A 6: 125,114,149 (GRCm39) V205E probably benign Het
Nphs1 G T 7: 30,173,702 (GRCm39) S939I probably damaging Het
Nudt8 T A 19: 4,051,925 (GRCm39) W179R probably damaging Het
Nutm1 A T 2: 112,080,274 (GRCm39) I547N probably benign Het
Oog2 A C 4: 143,922,856 (GRCm39) T374P probably damaging Het
Or4k5 A T 14: 50,385,384 (GRCm39) F316I probably benign Het
Or8b54 C A 9: 38,686,631 (GRCm39) L27I probably damaging Het
Otud4 T A 8: 80,390,722 (GRCm39) M413K probably benign Het
Pear1 A G 3: 87,667,606 (GRCm39) probably benign Het
Pla2g3 G A 11: 3,438,551 (GRCm39) C67Y probably damaging Het
Plxdc2 A G 2: 16,716,917 (GRCm39) T334A probably benign Het
Ppl G A 16: 4,917,864 (GRCm39) R543W probably damaging Het
Prl5a1 G A 13: 28,333,880 (GRCm39) V128I probably damaging Het
Pth1r A T 9: 110,571,295 (GRCm39) L25Q probably damaging Het
Pth1r T C 9: 110,558,689 (GRCm39) D96G probably benign Het
Rfpl4 G T 7: 5,113,517 (GRCm39) D215E probably damaging Het
Rnf146 T A 10: 29,223,092 (GRCm39) R265* probably null Het
Rpe65 T C 3: 159,312,122 (GRCm39) I207T probably benign Het
Rptn A G 3: 93,305,532 (GRCm39) E955G possibly damaging Het
Rwdd2b A T 16: 87,233,738 (GRCm39) C121S probably damaging Het
Scn10a A G 9: 119,438,340 (GRCm39) I1843T probably damaging Het
Sirt5 A G 13: 43,524,245 (GRCm39) I6V probably benign Het
Slc25a36 A G 9: 96,961,254 (GRCm39) Y261H probably damaging Het
Slc5a3 G A 16: 91,874,383 (GRCm39) A147T probably damaging Het
Stk39 T C 2: 68,240,390 (GRCm39) S114G probably damaging Het
Stxbp1 T C 2: 32,704,979 (GRCm39) probably null Het
Syt3 G T 7: 44,040,106 (GRCm39) G113V probably damaging Het
Tatdn2 A G 6: 113,686,506 (GRCm39) T644A probably damaging Het
Trim9 T A 12: 70,298,791 (GRCm39) probably null Het
Tut1 A G 19: 8,936,719 (GRCm39) N181S probably benign Het
Vill T C 9: 118,895,892 (GRCm39) S151P probably damaging Het
Vmn2r90 A T 17: 17,948,400 (GRCm39) I549F probably damaging Het
Wdfy4 T C 14: 32,801,923 (GRCm39) T1912A possibly damaging Het
Other mutations in Hpd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02483:Hpd APN 5 123,320,641 (GRCm39) splice site probably null
IGL02510:Hpd APN 5 123,319,973 (GRCm39) missense possibly damaging 0.95
IGL02574:Hpd APN 5 123,317,420 (GRCm39) splice site probably benign
IGL02642:Hpd APN 5 123,319,503 (GRCm39) missense possibly damaging 0.86
IGL03374:Hpd APN 5 123,310,108 (GRCm39) missense probably damaging 1.00
Intermediary UTSW 5 123,315,587 (GRCm39) splice site probably null
metabolism UTSW 5 123,312,443 (GRCm39) missense probably benign
pyruvian UTSW 5 123,316,255 (GRCm39) nonsense probably null
R0079:Hpd UTSW 5 123,319,544 (GRCm39) missense probably damaging 1.00
R1022:Hpd UTSW 5 123,312,532 (GRCm39) missense possibly damaging 0.94
R1165:Hpd UTSW 5 123,314,153 (GRCm39) critical splice donor site probably null
R2414:Hpd UTSW 5 123,315,587 (GRCm39) splice site probably null
R6572:Hpd UTSW 5 123,318,739 (GRCm39) missense probably benign 0.22
R6604:Hpd UTSW 5 123,318,964 (GRCm39) splice site probably null
R6616:Hpd UTSW 5 123,310,123 (GRCm39) missense probably damaging 1.00
R7539:Hpd UTSW 5 123,316,255 (GRCm39) nonsense probably null
R7952:Hpd UTSW 5 123,316,327 (GRCm39) missense possibly damaging 0.91
R8023:Hpd UTSW 5 123,314,297 (GRCm39) missense probably damaging 1.00
R8086:Hpd UTSW 5 123,314,252 (GRCm39) missense probably benign 0.20
R8134:Hpd UTSW 5 123,312,443 (GRCm39) missense probably benign
R9029:Hpd UTSW 5 123,313,973 (GRCm39) missense probably damaging 1.00
R9390:Hpd UTSW 5 123,318,794 (GRCm39) critical splice acceptor site probably null
R9483:Hpd UTSW 5 123,312,535 (GRCm39) missense probably damaging 1.00
R9532:Hpd UTSW 5 123,312,532 (GRCm39) missense possibly damaging 0.94
R9641:Hpd UTSW 5 123,310,052 (GRCm39) missense probably benign
R9664:Hpd UTSW 5 123,318,948 (GRCm39) critical splice donor site probably null
X0023:Hpd UTSW 5 123,312,502 (GRCm39) missense probably damaging 1.00
Z1176:Hpd UTSW 5 123,319,538 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-05