Incidental Mutation 'IGL02824:Agxt2'
ID 361114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agxt2
Ensembl Gene ENSMUSG00000089678
Gene Name alanine-glyoxylate aminotransferase 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02824
Quality Score
Status
Chromosome 15
Chromosomal Location 10358618-10410239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10393891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 423 (E423G)
Ref Sequence ENSEMBL: ENSMUSP00000022858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000110542]
AlphaFold Q3UEG6
Predicted Effect probably null
Transcript: ENSMUST00000022858
AA Change: E423G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: E423G

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 228 4.5e-36 PFAM
Pfam:Aminotran_3 269 532 5.7e-60 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110542
AA Change: E395G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: E395G

DomainStartEndE-ValueType
Pfam:Aminotran_3 87 443 1.3e-88 PFAM
Coding Region Coverage
Validation Efficiency
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 a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit reduced circulating L-citrulline, hypertension under terminal aesthesia and increased vasodilation maximal response following acetylcholine treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,596,112 (GRCm39) probably benign Het
Aadat A T 8: 60,969,056 (GRCm39) K93N probably benign Het
Abcb5 A G 12: 118,854,420 (GRCm39) F832L probably benign Het
Abl1 A T 2: 31,690,831 (GRCm39) K783N probably damaging Het
Alkbh8 T C 9: 3,368,021 (GRCm39) probably null Het
Ankrd36 T C 11: 5,524,246 (GRCm39) I171T possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Cd19 T C 7: 126,009,826 (GRCm39) D446G probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,687,659 (GRCm39) probably null Het
Ehbp1l1 T C 19: 5,769,326 (GRCm39) D659G probably benign Het
Eif3l A G 15: 78,960,023 (GRCm39) probably null Het
F5 T C 1: 164,021,916 (GRCm39) S1464P probably benign Het
Fut9 T C 4: 25,620,037 (GRCm39) N259S probably damaging Het
Glb1l3 A T 9: 26,761,405 (GRCm39) I209N probably damaging Het
Gpd2 A G 2: 57,254,339 (GRCm39) E671G probably null Het
Heatr5b T C 17: 79,081,109 (GRCm39) D1381G probably damaging Het
Ifi206 A T 1: 173,309,438 (GRCm39) I186K possibly damaging Het
Izumo1 A G 7: 45,275,072 (GRCm39) D236G probably benign Het
Klhl32 T A 4: 24,682,237 (GRCm39) R149* probably null Het
Lrrn1 T C 6: 107,545,495 (GRCm39) F431S possibly damaging Het
Man2b2 C T 5: 36,979,195 (GRCm39) V282I probably benign Het
Mboat2 A G 12: 24,996,585 (GRCm39) K164R probably benign Het
Mgarp T C 3: 51,296,508 (GRCm39) T165A probably damaging Het
Midn T G 10: 79,989,486 (GRCm39) I43S possibly damaging Het
Ndn A G 7: 61,998,582 (GRCm39) I143V possibly damaging Het
Or6c69 T C 10: 129,747,565 (GRCm39) E194G probably damaging Het
Or8h9 T C 2: 86,789,337 (GRCm39) D155G probably benign Het
Pcnx4 T C 12: 72,602,345 (GRCm39) V278A probably benign Het
Prr30 A G 14: 101,435,954 (GRCm39) F203L probably benign Het
Scd4 T C 19: 44,329,698 (GRCm39) L223P probably damaging Het
Setdb1 T C 3: 95,247,215 (GRCm39) probably benign Het
Smtn A G 11: 3,482,658 (GRCm39) Y105H probably damaging Het
Spata19 A G 9: 27,309,025 (GRCm39) I54M possibly damaging Het
Syk A T 13: 52,777,319 (GRCm39) probably benign Het
Trim44 A G 2: 102,230,540 (GRCm39) F164L possibly damaging Het
Zfp503 C T 14: 22,035,162 (GRCm39) G585S possibly damaging Het
Other mutations in Agxt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Agxt2 APN 15 10,393,794 (GRCm39) splice site probably null
IGL02434:Agxt2 APN 15 10,358,686 (GRCm39) missense possibly damaging 0.83
IGL02929:Agxt2 APN 15 10,388,379 (GRCm39) splice site probably benign
IGL03368:Agxt2 APN 15 10,388,256 (GRCm39) nonsense probably null
PIT4810001:Agxt2 UTSW 15 10,399,151 (GRCm39) missense probably benign 0.00
R0179:Agxt2 UTSW 15 10,399,134 (GRCm39) missense possibly damaging 0.71
R0526:Agxt2 UTSW 15 10,373,948 (GRCm39) missense probably damaging 1.00
R1085:Agxt2 UTSW 15 10,388,338 (GRCm39) missense probably benign 0.00
R1173:Agxt2 UTSW 15 10,373,837 (GRCm39) missense probably damaging 1.00
R1174:Agxt2 UTSW 15 10,373,837 (GRCm39) missense probably damaging 1.00
R1387:Agxt2 UTSW 15 10,380,696 (GRCm39) missense probably damaging 1.00
R1642:Agxt2 UTSW 15 10,373,917 (GRCm39) missense probably damaging 1.00
R1938:Agxt2 UTSW 15 10,392,021 (GRCm39) missense probably damaging 1.00
R3439:Agxt2 UTSW 15 10,381,511 (GRCm39) missense probably benign 0.19
R4485:Agxt2 UTSW 15 10,378,968 (GRCm39) missense possibly damaging 0.89
R4698:Agxt2 UTSW 15 10,392,130 (GRCm39) critical splice donor site probably null
R5582:Agxt2 UTSW 15 10,399,245 (GRCm39) missense probably damaging 1.00
R6056:Agxt2 UTSW 15 10,378,963 (GRCm39) missense probably damaging 1.00
R6109:Agxt2 UTSW 15 10,377,508 (GRCm39) missense probably damaging 1.00
R6393:Agxt2 UTSW 15 10,393,894 (GRCm39) critical splice donor site probably null
R6868:Agxt2 UTSW 15 10,373,855 (GRCm39) missense probably damaging 1.00
R7206:Agxt2 UTSW 15 10,377,542 (GRCm39) missense probably damaging 0.99
R7275:Agxt2 UTSW 15 10,358,753 (GRCm39) missense probably benign 0.00
R7475:Agxt2 UTSW 15 10,409,623 (GRCm39) missense probably benign
R7792:Agxt2 UTSW 15 10,381,472 (GRCm39) missense probably damaging 1.00
R8722:Agxt2 UTSW 15 10,373,825 (GRCm39) missense probably benign
R8899:Agxt2 UTSW 15 10,378,900 (GRCm39) missense probably damaging 1.00
R8929:Agxt2 UTSW 15 10,393,830 (GRCm39) missense probably benign 0.02
R9229:Agxt2 UTSW 15 10,409,597 (GRCm39) missense probably damaging 1.00
R9311:Agxt2 UTSW 15 10,380,733 (GRCm39) missense probably damaging 0.96
R9608:Agxt2 UTSW 15 10,400,624 (GRCm39) missense possibly damaging 0.92
Posted On 2015-12-18