Incidental Mutation 'R1174:Agxt2'
ID 99849
Institutional Source Beutler Lab
Gene Symbol Agxt2
Ensembl Gene ENSMUSG00000089678
Gene Name alanine-glyoxylate aminotransferase 2
Synonyms
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1174 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 10358618-10410239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10373837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 81 (F81S)
Ref Sequence ENSEMBL: ENSMUSP00000106171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000110540] [ENSMUST00000110541] [ENSMUST00000110542]
AlphaFold Q3UEG6
Predicted Effect probably damaging
Transcript: ENSMUST00000022858
AA Change: F81S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: F81S

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 228 4.5e-36 PFAM
Pfam:Aminotran_3 269 532 5.7e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110540
SMART Domains Protein: ENSMUSP00000106169
Gene: ENSMUSG00000089678

DomainStartEndE-ValueType
Pfam:Aminotran_3 86 122 2.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110541
AA Change: F81S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106170
Gene: ENSMUSG00000089678
AA Change: F81S

DomainStartEndE-ValueType
Pfam:Aminotran_3 86 219 1.7e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110542
AA Change: F81S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: F81S

DomainStartEndE-ValueType
Pfam:Aminotran_3 87 443 1.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000157020
SMART Domains Protein: ENSMUSP00000120297
Gene: ENSMUSG00000094814

DomainStartEndE-ValueType
transmembrane domain 20 41 N/A INTRINSIC
Meta Mutation Damage Score 0.5701 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D 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
IGL02824:Agxt2 APN 15 10,393,891 (GRCm39) missense probably null 0.96
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
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
Predicted Primers
Posted On 2014-01-15