Incidental Mutation 'R0079:Hpd'
ID 19603
Institutional Source Beutler Lab
Gene Symbol Hpd
Ensembl Gene ENSMUSG00000029445
Gene Name 4-hydroxyphenylpyruvic acid dioxygenase
Synonyms Fla, Hppd, Flp, Laf
MMRRC Submission 038366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0079 (G1)
Quality Score 180
Status Validated
Chromosome 5
Chromosomal Location 123309870-123320786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123319544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 8 (Y8C)
Ref Sequence ENSEMBL: ENSMUSP00000121922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031398] [ENSMUST00000154713]
AlphaFold P49429
Predicted Effect probably damaging
Transcript: ENSMUST00000031398
AA Change: Y47C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031398
Gene: ENSMUSG00000029445
AA Change: Y47C

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 noncoding transcript
Transcript: ENSMUST00000124110
Predicted Effect probably damaging
Transcript: ENSMUST00000154713
AA Change: Y8C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121922
Gene: ENSMUSG00000029445
AA Change: Y8C

DomainStartEndE-ValueType
SCOP:d1cjxa1 1 122 3e-13 SMART
PDB:1SQI|B 1 159 1e-113 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199260
Meta Mutation Damage Score 0.7081 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
Validation Efficiency 78% (155/199)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T A 12: 17,057,183 (GRCm39) T105S possibly damaging Het
Abca13 G A 11: 9,243,493 (GRCm39) M1785I probably benign Het
Adamts3 G C 5: 89,840,912 (GRCm39) P804A probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Ank2 G T 3: 126,728,264 (GRCm39) D776E probably benign Het
Cep152 T A 2: 125,460,373 (GRCm39) K193M possibly damaging Het
Cep55 C T 19: 38,048,769 (GRCm39) L142F probably benign Het
Chd5 A G 4: 152,470,206 (GRCm39) Y1884C probably damaging Het
Clasp1 T C 1: 118,471,034 (GRCm39) L890P probably damaging Het
Cul9 C A 17: 46,848,589 (GRCm39) E716* probably null Het
Cytip T A 2: 58,050,006 (GRCm39) D21V probably benign Het
Denr T G 5: 124,062,908 (GRCm39) F137C probably damaging Het
Dhrs3 A T 4: 144,646,618 (GRCm39) S197C probably damaging Het
Egr4 A T 6: 85,489,751 (GRCm39) M103K probably damaging Het
Eif4enif1 C T 11: 3,192,676 (GRCm39) Q835* probably null Het
Gckr A G 5: 31,463,883 (GRCm39) I268V probably benign Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Il12rb2 A T 6: 67,338,889 (GRCm39) F16I probably benign Het
Ildr2 A T 1: 166,135,289 (GRCm39) Y347F probably damaging Het
Kcnv1 T C 15: 44,976,729 (GRCm39) D186G probably damaging Het
Khdrbs2 A G 1: 32,558,996 (GRCm39) probably null Het
L1cam G T X: 72,913,364 (GRCm39) P16H probably damaging Het
Lyn A G 4: 3,746,768 (GRCm39) H161R probably damaging Het
Mctp2 T A 7: 71,863,864 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mitf A C 6: 97,973,401 (GRCm39) M220L probably benign Het
Mrpl21 T C 19: 3,334,807 (GRCm39) Y50H possibly damaging Het
Myh1 T A 11: 67,104,237 (GRCm39) L968Q probably damaging Het
Myo3b A G 2: 69,925,502 (GRCm39) K18E possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nlrp2 T A 7: 5,330,729 (GRCm39) T556S possibly damaging Het
Nsmf T C 2: 24,949,096 (GRCm39) probably benign Het
Nsun7 C T 5: 66,452,856 (GRCm39) P558S probably benign Het
Or10h5 G A 17: 33,435,079 (GRCm39) R80C probably benign Het
Or1e34 T G 11: 73,778,563 (GRCm39) I212L probably benign Het
Or56a3 T C 7: 104,735,135 (GRCm39) S71P probably damaging Het
Or5d40 A T 2: 88,015,698 (GRCm39) Y159F possibly damaging Het
Phf19 T C 2: 34,785,966 (GRCm39) N501S probably benign Het
Ranbp17 A C 11: 33,450,682 (GRCm39) I85S probably damaging Het
Robo1 A G 16: 72,730,230 (GRCm39) probably benign Het
Sntg1 A G 1: 8,749,286 (GRCm39) probably benign Het
Snx15 A G 19: 6,173,943 (GRCm39) L58P probably damaging Het
Spink5 G T 18: 44,110,831 (GRCm39) C134F probably damaging Het
Strip2 T C 6: 29,920,532 (GRCm39) probably null Het
Taf1d C T 9: 15,221,240 (GRCm39) A182V probably benign Het
Tenm3 A G 8: 48,796,380 (GRCm39) V475A possibly damaging Het
Tent4b T A 8: 88,926,631 (GRCm39) Y14N possibly damaging Het
Tgds A T 14: 118,353,647 (GRCm39) H223Q possibly damaging Het
Thoc2 G T X: 40,952,985 (GRCm39) S230Y probably benign Het
Tm9sf4 T A 2: 153,033,065 (GRCm39) V290E probably damaging Het
Trak2 A T 1: 58,965,883 (GRCm39) L97Q probably damaging Het
Trnau1ap A G 4: 132,041,656 (GRCm39) Y145H probably damaging Het
Vars2 A T 17: 35,970,048 (GRCm39) D780E probably damaging Het
Vmn1r170 T A 7: 23,305,735 (GRCm39) S46T possibly damaging Het
Vmn1r20 A T 6: 57,408,777 (GRCm39) R34S possibly damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdr64 T C 1: 175,622,668 (GRCm39) M805T probably benign Het
Xdh G A 17: 74,198,213 (GRCm39) R1225C probably damaging Het
Zfp341 T A 2: 154,466,914 (GRCm39) Y94* probably null Het
Zfp641 T C 15: 98,186,970 (GRCm39) N218D probably benign Het
Zscan22 T C 7: 12,638,014 (GRCm39) probably null 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
R1022:Hpd UTSW 5 123,312,532 (GRCm39) missense possibly damaging 0.94
R1024: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 PCR Primer
(F):5'- AAAAGGGCCTGCTCTTCATCTTCC -3'
(R):5'- GAGAGTCTCCAAATGACGGACATGG -3'

Sequencing Primer
(F):5'- ACCAACTGGGTTCTCAGTG -3'
(R):5'- GACATGGGGGCAGTCAG -3'
Posted On 2013-04-11