Incidental Mutation 'R2424:Haao'
ID 249519
Institutional Source Beutler Lab
Gene Symbol Haao
Ensembl Gene ENSMUSG00000000673
Gene Name 3-hydroxyanthranilate 3,4-dioxygenase
Synonyms 3HAO, 0610012J07Rik, 3-HAOxase, 3-HAO, 0610007K21Rik
MMRRC Submission 040386-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2424 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 84138585-84155392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84142991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 118 (Y118F)
Ref Sequence ENSEMBL: ENSMUSP00000000687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000687]
AlphaFold Q78JT3
Predicted Effect probably damaging
Transcript: ENSMUST00000000687
AA Change: Y118F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000687
Gene: ENSMUSG00000000673
AA Change: Y118F

DomainStartEndE-ValueType
Pfam:3-HAO 1 149 1e-78 PFAM
Meta Mutation Damage Score 0.7346 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced LPS-induced depressive behaviors and altered kynurenine metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,590,159 (GRCm39) probably null Het
Acot3 G T 12: 84,100,638 (GRCm39) R138L probably damaging Het
Ago3 A G 4: 126,298,040 (GRCm39) V160A probably damaging Het
Akap9 A C 5: 4,115,279 (GRCm39) E166D probably damaging Het
Arid5a T C 1: 36,357,582 (GRCm39) Y136H probably damaging Het
Ascc3 T C 10: 50,494,297 (GRCm39) V244A probably benign Het
Atp10a A T 7: 58,444,303 (GRCm39) H560L probably benign Het
Btbd6 A G 12: 112,941,980 (GRCm39) T482A probably benign Het
Cacna1d A T 14: 29,770,980 (GRCm39) Y1828N probably damaging Het
Capzb A G 4: 138,921,441 (GRCm39) M1V probably null Het
Cdh9 T G 15: 16,850,440 (GRCm39) F524L probably damaging Het
Ctnna1 T C 18: 35,386,760 (GRCm39) S846P probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dock7 T A 4: 98,833,544 (GRCm39) R1886* probably null Het
Dpp3 A T 19: 4,957,735 (GRCm39) L711* probably null Het
Dst T A 1: 34,206,141 (GRCm39) I566N probably damaging Het
Eif2b3 T A 4: 116,928,045 (GRCm39) S421R probably benign Het
Epg5 T C 18: 78,011,828 (GRCm39) V825A probably benign Het
Eya1 T A 1: 14,341,072 (GRCm39) probably benign Het
Fam187a T C 11: 102,776,780 (GRCm39) Y195H probably damaging Het
Fbn2 C T 18: 58,336,859 (GRCm39) C132Y probably damaging Het
Fbxw21 A T 9: 108,986,587 (GRCm39) Y97* probably null Het
Grin1 A T 2: 25,208,664 (GRCm39) C79S probably null Het
Il11ra1 T A 4: 41,768,222 (GRCm39) S378T probably damaging Het
Kcnj5 A T 9: 32,234,116 (GRCm39) N66K probably damaging Het
Kif21a T A 15: 90,855,399 (GRCm39) N668I probably damaging Het
Kprp A T 3: 92,732,912 (GRCm39) L46Q probably damaging Het
Lama1 C T 17: 68,105,660 (GRCm39) T2056I probably benign Het
Madd G C 2: 90,996,967 (GRCm39) D824E probably damaging Het
Mapk9 A G 11: 49,754,499 (GRCm39) N84S probably damaging Het
Mrpl39 A G 16: 84,527,748 (GRCm39) V160A probably benign Het
Mrpl9 T C 3: 94,351,113 (GRCm39) S98P probably benign Het
Mybpc3 A T 2: 90,966,138 (GRCm39) M1233L probably benign Het
Neb A G 2: 52,099,671 (GRCm39) probably benign Het
Ngly1 A G 14: 16,290,721 (GRCm38) probably null Het
Nt5c1b A T 12: 10,420,072 (GRCm39) T4S probably damaging Het
Obscn T C 11: 58,885,277 (GRCm39) probably benign Het
Or2h2c T C 17: 37,422,408 (GRCm39) I155M probably benign Het
Or4k15b T C 14: 50,272,281 (GRCm39) Y193C probably damaging Het
Or8b1b T C 9: 38,376,128 (GRCm39) S264P probably damaging Het
Or8g53 A G 9: 39,683,593 (GRCm39) F168L probably benign Het
Otog A T 7: 45,947,593 (GRCm39) K64* probably null Het
Papola A G 12: 105,793,311 (GRCm39) T544A probably benign Het
Phc1 A G 6: 122,297,002 (GRCm39) V790A probably damaging Het
Phf3 G T 1: 30,845,430 (GRCm39) R1252S probably damaging Het
Phf8-ps T C 17: 33,284,730 (GRCm39) T691A probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rgs17 T A 10: 5,783,111 (GRCm39) I159F probably damaging Het
Rgs17 T A 10: 5,792,560 (GRCm39) E62V probably benign Het
Rnase1 A G 14: 51,383,004 (GRCm39) Y117H possibly damaging Het
Rnf214 T C 9: 45,811,096 (GRCm39) D189G probably damaging Het
Sema4b A G 7: 79,869,023 (GRCm39) N365S probably damaging Het
Setd2 A G 9: 110,446,590 (GRCm39) H2480R probably benign Het
Slc27a6 G T 18: 58,738,189 (GRCm39) C415F probably benign Het
Stim1 A G 7: 102,057,612 (GRCm39) I142V probably benign Het
Supt5 T C 7: 28,014,590 (GRCm39) I1070V possibly damaging Het
Tbp T C 17: 15,733,795 (GRCm39) F174L possibly damaging Het
Tex26 A G 5: 149,393,913 (GRCm39) probably benign Het
Tmem132d A G 5: 127,941,663 (GRCm39) V479A probably benign Het
Ttn T C 2: 76,711,489 (GRCm39) probably benign Het
Urb2 T A 8: 124,757,165 (GRCm39) N957K probably benign Het
Usp24 T C 4: 106,256,310 (GRCm39) probably null Het
Vmn2r114 T C 17: 23,515,842 (GRCm39) T550A possibly damaging Het
Vmn2r72 A G 7: 85,400,161 (GRCm39) V296A probably damaging Het
Vmn2r91 C A 17: 18,356,431 (GRCm39) Y699* probably null Het
Other mutations in Haao
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Haao APN 17 84,142,359 (GRCm39) splice site probably benign
IGL01728:Haao APN 17 84,142,658 (GRCm39) missense probably damaging 1.00
IGL02603:Haao APN 17 84,142,970 (GRCm39) missense probably benign 0.45
IGL03328:Haao APN 17 84,154,078 (GRCm39) missense probably damaging 1.00
R0635:Haao UTSW 17 84,146,003 (GRCm39) missense probably damaging 1.00
R1295:Haao UTSW 17 84,146,267 (GRCm39) missense probably benign 0.38
R1296:Haao UTSW 17 84,146,267 (GRCm39) missense probably benign 0.38
R1472:Haao UTSW 17 84,146,267 (GRCm39) missense probably benign 0.38
R1563:Haao UTSW 17 84,142,318 (GRCm39) missense probably benign 0.01
R3917:Haao UTSW 17 84,146,228 (GRCm39) critical splice donor site probably null
R4657:Haao UTSW 17 84,139,774 (GRCm39) missense possibly damaging 0.67
R4857:Haao UTSW 17 84,146,009 (GRCm39) critical splice acceptor site probably null
R6475:Haao UTSW 17 84,139,113 (GRCm39) missense possibly damaging 0.87
R6989:Haao UTSW 17 84,139,103 (GRCm39) missense probably damaging 1.00
R7390:Haao UTSW 17 84,154,081 (GRCm39) missense probably damaging 0.99
R8073:Haao UTSW 17 84,142,649 (GRCm39) missense possibly damaging 0.86
R9309:Haao UTSW 17 84,146,270 (GRCm39) missense probably damaging 1.00
R9718:Haao UTSW 17 84,142,215 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACAGGACTTCATCGTGCTTCC -3'
(R):5'- ACCCGGCGTTAAATGTGATC -3'

Sequencing Primer
(F):5'- AGAGTGGCTCGTCCCATC -3'
(R):5'- CCGGCGTTAAATGTGATCCTAGG -3'
Posted On 2014-11-12