Incidental Mutation 'R4485:Agxt2'
ID 331589
Institutional Source Beutler Lab
Gene Symbol Agxt2
Ensembl Gene ENSMUSG00000089678
Gene Name alanine-glyoxylate aminotransferase 2
Synonyms
MMRRC Submission 041741-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4485 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 10358618-10410239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10378968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 190 (I190L)
Ref Sequence ENSEMBL: ENSMUSP00000022858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000110540] [ENSMUST00000110541] [ENSMUST00000110542]
AlphaFold Q3UEG6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022858
AA Change: I190L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: I190L

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 possibly damaging
Transcript: ENSMUST00000110541
AA Change: I190L

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106170
Gene: ENSMUSG00000089678
AA Change: I190L

DomainStartEndE-ValueType
Pfam:Aminotran_3 86 219 1.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110542
AA Change: I190L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: I190L

DomainStartEndE-ValueType
Pfam:Aminotran_3 87 443 1.3e-88 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 A G 12: 112,745,944 (GRCm39) probably benign Het
Apol7b C A 15: 77,307,866 (GRCm39) V210L probably benign Het
Banf2 C T 2: 143,915,772 (GRCm39) T71M probably damaging Het
Cacna1s A G 1: 136,004,590 (GRCm39) D130G probably damaging Het
Capn8 T C 1: 182,426,306 (GRCm39) F214L possibly damaging Het
Ccdc168 A G 1: 44,099,283 (GRCm39) L605S probably benign Het
Cdk5rap2 A T 4: 70,157,520 (GRCm39) probably null Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cpb1 T G 3: 20,303,865 (GRCm39) M400L probably benign Het
Eps15l1 A T 8: 73,153,531 (GRCm39) I52N possibly damaging Het
Gbp9 C G 5: 105,231,674 (GRCm39) G304A probably damaging Het
Gm14226 G A 2: 154,867,191 (GRCm39) V383I probably benign Het
Itprid1 A G 6: 55,864,051 (GRCm39) T126A probably benign Het
Npm2 A T 14: 70,885,749 (GRCm39) V152D possibly damaging Het
Nsd1 T C 13: 55,393,434 (GRCm39) V345A probably benign Het
Or56a3 T A 7: 104,735,808 (GRCm39) V295D probably damaging Het
Or5b107 T C 19: 13,142,855 (GRCm39) V159A possibly damaging Het
Or5b118 T C 19: 13,448,919 (GRCm39) I195T probably benign Het
Or5p58 T C 7: 107,694,222 (GRCm39) D185G probably benign Het
Otof T A 5: 30,532,344 (GRCm39) H1601L possibly damaging Het
Plat G A 8: 23,262,228 (GRCm39) S84N probably benign Het
Prss30 T C 17: 24,192,130 (GRCm39) D224G probably damaging Het
Psg25 C A 7: 18,260,203 (GRCm39) V232F probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Pus7l G T 15: 94,421,371 (GRCm39) H646Q probably benign Het
Ryr1 C T 7: 28,789,581 (GRCm39) S1511N probably damaging Het
Slc16a1 A G 3: 104,562,794 (GRCm39) K413R probably benign Het
Snrnp48 T A 13: 38,400,304 (GRCm39) M137K probably benign Het
Tecta T A 9: 42,248,570 (GRCm39) H1944L possibly damaging Het
Tmem145 A G 7: 25,006,587 (GRCm39) E65G possibly damaging Het
Vmn2r87 A T 10: 130,315,678 (GRCm39) Y129* probably null Het
Wdr7 A G 18: 63,910,621 (GRCm39) H671R possibly damaging Het
Zfp219 A G 14: 52,244,841 (GRCm39) V518A probably damaging Het
Zfp472 T C 17: 33,196,542 (GRCm39) W206R 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
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
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 PCR Primer
(F):5'- GAAGCTAAAATACCTGGTCTTTAGC -3'
(R):5'- ACAGATCTGTATTTCATAAGAAGGCCC -3'

Sequencing Primer
(F):5'- CAATGTTGCATGAATTGAGCAACAG -3'
(R):5'- GGCCCAATAAATATTGCAAAATTCC -3'
Posted On 2015-07-21