Incidental Mutation 'R0042:Alox5ap'
ID 102561
Institutional Source Beutler Lab
Gene Symbol Alox5ap
Ensembl Gene ENSMUSG00000060063
Gene Name arachidonate 5-lipoxygenase activating protein
Synonyms arachidonate 5 lipoxygenase activating protein, Flap
MMRRC Submission 038336-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R0042 (G1)
Quality Score 42
Status Validated
Chromosome 5
Chromosomal Location 149201814-149224963 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 149216069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071130] [ENSMUST00000200806] [ENSMUST00000200928]
AlphaFold P30355
Predicted Effect probably benign
Transcript: ENSMUST00000071130
SMART Domains Protein: ENSMUSP00000071130
Gene: ENSMUSG00000060063

DomainStartEndE-ValueType
Pfam:MAPEG 5 133 7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082770
Predicted Effect probably benign
Transcript: ENSMUST00000200806
SMART Domains Protein: ENSMUSP00000144472
Gene: ENSMUSG00000060063

DomainStartEndE-ValueType
PDB:2Q7R|F 1 70 9e-41 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000200928
SMART Domains Protein: ENSMUSP00000144115
Gene: ENSMUSG00000060063

DomainStartEndE-ValueType
PDB:2Q7R|F 1 73 5e-43 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200934
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Targeted mutations of this gene result in a complete defect in leukotriene production, resistance to platelet-activating factor mediated anaphylaxis, and reduced acute and chronic inflammatory responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,059,245 (GRCm39) probably benign Het
Acr T A 15: 89,458,535 (GRCm39) H405Q probably benign Het
Adad1 T C 3: 37,137,322 (GRCm39) probably benign Het
Ank2 T C 3: 126,730,280 (GRCm39) D3568G probably damaging Het
Atl3 T G 19: 7,506,388 (GRCm39) I306S probably damaging Het
Atr T A 9: 95,809,409 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,326,335 (GRCm39) V34A probably benign Het
Cdh12 A C 15: 21,537,763 (GRCm39) probably benign Het
Cib1 C T 7: 79,880,126 (GRCm39) V45M probably benign Het
Col6a6 T C 9: 105,657,896 (GRCm39) E772G possibly damaging Het
Dmxl1 C A 18: 49,997,102 (GRCm39) T466K probably benign Het
Dym T C 18: 75,258,610 (GRCm39) probably null Het
Enpp3 A C 10: 24,650,722 (GRCm39) F805V probably damaging Het
Eya1 T C 1: 14,254,713 (GRCm39) D373G probably damaging Het
Gpr179 C T 11: 97,225,757 (GRCm39) V2133I probably benign Het
Grb10 G T 11: 11,886,798 (GRCm39) H435Q probably damaging Het
Gzmm T C 10: 79,530,399 (GRCm39) I190T probably benign Het
Helt T C 8: 46,745,433 (GRCm39) Y150C probably damaging Het
Hrg A T 16: 22,779,886 (GRCm39) probably benign Het
Il17ra T C 6: 120,449,086 (GRCm39) probably benign Het
Inhbc A G 10: 127,193,302 (GRCm39) I238T probably benign Het
Itgb3 A G 11: 104,557,966 (GRCm39) T787A possibly damaging Het
Jakmip2 T G 18: 43,685,210 (GRCm39) probably benign Het
Krt4 T G 15: 101,831,187 (GRCm39) probably benign Het
Lgsn C T 1: 31,229,534 (GRCm39) T85I probably benign Het
Metap1 C T 3: 138,177,918 (GRCm39) V217I probably benign Het
Mib2 A T 4: 155,743,897 (GRCm39) C48* probably null Het
Mroh4 T A 15: 74,482,154 (GRCm39) I768F probably damaging Het
Npas3 T A 12: 54,095,624 (GRCm39) D361E probably damaging Het
Obscn A G 11: 58,943,411 (GRCm39) L4246P probably damaging Het
Or4a78 A C 2: 89,497,798 (GRCm39) V144G probably benign Het
Or7e169 A G 9: 19,757,075 (GRCm39) M280T probably benign Het
Or8h7 A G 2: 86,720,835 (GRCm39) I228T probably damaging Het
P4hb G A 11: 120,459,092 (GRCm39) R134C probably damaging Het
Plcb3 T C 19: 6,943,788 (GRCm39) D71G probably damaging Het
Prex2 T A 1: 11,150,305 (GRCm39) V159E probably damaging Het
Prpsap1 T A 11: 116,370,482 (GRCm39) K158N probably benign Het
Prr35 C A 17: 26,166,956 (GRCm39) E194* probably null Het
Ptger1 G T 8: 84,394,795 (GRCm39) V91L probably benign Het
Rdh10 T C 1: 16,178,260 (GRCm39) probably benign Het
Rgs9bp C A 7: 35,284,458 (GRCm39) R63L probably damaging Het
Slc13a5 A T 11: 72,149,940 (GRCm39) V173E probably benign Het
Spata31 A T 13: 65,070,377 (GRCm39) I842L probably benign Het
Stk32b A C 5: 37,874,092 (GRCm39) D13E probably benign Het
Svep1 T C 4: 58,123,192 (GRCm39) D708G possibly damaging Het
Taar6 T C 10: 23,861,021 (GRCm39) D175G probably benign Het
Thbs1 A C 2: 117,953,358 (GRCm39) D925A probably damaging Het
Tnr A T 1: 159,714,595 (GRCm39) T825S probably benign Het
Ttc23l A C 15: 10,551,627 (GRCm39) L33W probably damaging Het
Ttc39d T C 17: 80,523,379 (GRCm39) Y13H probably benign Het
Vmn2r102 C A 17: 19,880,851 (GRCm39) P64Q probably damaging Het
Vps11 G T 9: 44,267,588 (GRCm39) Y341* probably null Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwce C T 19: 10,624,177 (GRCm39) A356V probably benign Het
Other mutations in Alox5ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1537:Alox5ap UTSW 5 149,201,993 (GRCm39) unclassified probably null
R2286:Alox5ap UTSW 5 149,222,240 (GRCm39) splice site probably null
R6861:Alox5ap UTSW 5 149,201,927 (GRCm39) missense probably damaging 1.00
R8343:Alox5ap UTSW 5 149,224,419 (GRCm39) missense probably damaging 1.00
R8859:Alox5ap UTSW 5 149,201,994 (GRCm39) critical splice donor site probably null
R9067:Alox5ap UTSW 5 149,222,190 (GRCm39) missense probably damaging 1.00
R9113:Alox5ap UTSW 5 149,216,015 (GRCm39) missense probably damaging 1.00
R9269:Alox5ap UTSW 5 149,216,006 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCACACCTCGTGTCTGCATTG -3'
(R):5'- TAAACCACCCTTGTCAGAGCAGCG -3'

Sequencing Primer
(F):5'- GCTCTCCAGGTAATTTTCAAGC -3'
(R):5'- CCAGGGAGCAAGCATTAGC -3'
Posted On 2014-01-15