Incidental Mutation 'R7475:Agxt2'
ID 579445
Institutional Source Beutler Lab
Gene Symbol Agxt2
Ensembl Gene ENSMUSG00000089678
Gene Name alanine-glyoxylate aminotransferase 2
Synonyms
MMRRC Submission 045549-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7475 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 10358618-10410239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10409623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 508 (M508L)
Ref Sequence ENSEMBL: ENSMUSP00000106171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000110542]
AlphaFold Q3UEG6
Predicted Effect probably benign
Transcript: ENSMUST00000022858
AA Change: M536L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: M536L

DomainStartEndE-ValueType
Pfam:Aminotran_3 76 228 4.5e-36 PFAM
Pfam:Aminotran_3 269 532 5.7e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110542
AA Change: M508L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: M508L

DomainStartEndE-ValueType
Pfam:Aminotran_3 87 443 1.3e-88 PFAM
Meta Mutation Damage Score 0.0934 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,739 (GRCm39) N214K probably benign Het
Abcf1 A G 17: 36,274,459 (GRCm39) probably null Het
Akr1c21 A T 13: 4,626,318 (GRCm39) Y114F probably benign Het
Amz1 T C 5: 140,729,941 (GRCm39) probably null Het
Ank1 G T 8: 23,622,646 (GRCm39) A1732S probably benign Het
Atg16l1 T C 1: 87,687,805 (GRCm39) S50P possibly damaging Het
AW551984 A G 9: 39,509,236 (GRCm39) S302P probably damaging Het
Ccn6 T A 10: 39,034,296 (GRCm39) Y102F probably damaging Het
Ces3a T A 8: 105,780,322 (GRCm39) probably null Het
Dedd C A 1: 171,167,881 (GRCm39) P185Q probably benign Het
Fam186a A T 15: 99,845,395 (GRCm39) V283E unknown Het
Fat2 C A 11: 55,194,479 (GRCm39) V1187F probably benign Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fcgbp C T 7: 27,802,401 (GRCm39) T1443I probably damaging Het
Foxj2 A G 6: 122,814,801 (GRCm39) D279G probably benign Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm49368 A T 7: 127,707,154 (GRCm39) T661S possibly damaging Het
Gria4 T G 9: 4,513,330 (GRCm39) T260P probably damaging Het
Gtf2ird2 T A 5: 134,230,267 (GRCm39) D195E possibly damaging Het
Hectd4 T A 5: 121,496,196 (GRCm39) probably null Het
Ifngr2 G A 16: 91,354,797 (GRCm39) C32Y unknown Het
Ikzf5 A T 7: 130,993,788 (GRCm39) C280S probably benign Het
Ints9 G T 14: 65,263,914 (GRCm39) E395D probably null Het
Isoc2b T C 7: 4,854,084 (GRCm39) D96G probably benign Het
Jmjd1c T G 10: 67,061,092 (GRCm39) S967R probably benign Het
Kcnj3 A T 2: 55,327,338 (GRCm39) K42N probably benign Het
Kiz T C 2: 146,733,006 (GRCm39) V394A possibly damaging Het
Knl1 A T 2: 118,918,027 (GRCm39) H1795L probably damaging Het
Lmntd2 A G 7: 140,790,602 (GRCm39) probably null Het
Loxhd1 C A 18: 77,500,001 (GRCm39) D1690E possibly damaging Het
Lrp1b T C 2: 41,234,588 (GRCm39) D1121G Het
Map3k2 T C 18: 32,333,015 (GRCm39) V63A possibly damaging Het
Mcc G T 18: 44,609,303 (GRCm39) A499D probably damaging Het
Mcpt9 T A 14: 56,264,400 (GRCm39) I232F probably damaging Het
Meltf A G 16: 31,700,756 (GRCm39) K92R probably benign Het
Mff T A 1: 82,723,159 (GRCm39) probably null Het
Mrgpra3 T A 7: 47,239,695 (GRCm39) Y77F probably damaging Het
Mylk G A 16: 34,734,446 (GRCm39) probably null Het
Ndufv2 A G 17: 66,394,532 (GRCm39) V111A possibly damaging Het
Nkd2 T C 13: 73,973,861 (GRCm39) E99G probably damaging Het
Nlk C A 11: 78,474,225 (GRCm39) G358V probably damaging Het
Nnmt A T 9: 48,503,532 (GRCm39) C165S probably damaging Het
Nxpe4 T A 9: 48,304,640 (GRCm39) C242* probably null Het
Oas1b A T 5: 120,955,705 (GRCm39) N162I probably damaging Het
Or4s2 A G 2: 88,473,554 (GRCm39) I148V probably benign Het
Otog A G 7: 45,916,700 (GRCm39) N879S probably damaging Het
Pcsk7 T A 9: 45,838,923 (GRCm39) Y612N probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pkhd1l1 C T 15: 44,368,581 (GRCm39) Q800* probably null Het
Pkn3 T C 2: 29,977,122 (GRCm39) S621P probably benign Het
Polr3c T C 3: 96,622,501 (GRCm39) I385V probably benign Het
Ppp1r21 G T 17: 88,863,031 (GRCm39) G257W probably benign Het
Prkn A G 17: 11,653,501 (GRCm39) D199G probably benign Het
Pxylp1 C T 9: 96,738,420 (GRCm39) probably null Het
Rasgrp1 T C 2: 117,116,589 (GRCm39) T613A probably benign Het
Robo3 C T 9: 37,336,674 (GRCm39) V387I probably benign Het
Rxfp2 T A 5: 149,973,046 (GRCm39) Y174N possibly damaging Het
Sec24a T C 11: 51,604,379 (GRCm39) M746V probably damaging Het
Sema4f T A 6: 82,891,355 (GRCm39) E571D possibly damaging Het
Septin3 T C 15: 82,170,657 (GRCm39) V217A probably benign Het
Serpinb1b A C 13: 33,277,548 (GRCm39) K260N probably benign Het
Sin3b A G 8: 73,476,500 (GRCm39) T645A possibly damaging Het
Sobp C T 10: 42,897,830 (GRCm39) R585Q probably damaging Het
Specc1l T A 10: 75,082,281 (GRCm39) L559Q possibly damaging Het
Srxn1 C T 2: 151,947,573 (GRCm39) probably benign Het
Sspo G A 6: 48,432,794 (GRCm39) R890Q probably benign Het
Stard9 A G 2: 120,518,591 (GRCm39) D505G probably damaging Het
Tjp1 A T 7: 64,972,087 (GRCm39) I653K probably damaging Het
Tnks C T 8: 35,298,866 (GRCm39) E1296K probably damaging Het
Ttbk2 A T 2: 120,579,121 (GRCm39) I667N probably benign Het
Usp24 T C 4: 106,199,550 (GRCm39) S165P possibly damaging Het
Usp46 T A 5: 74,189,598 (GRCm39) K109* probably null Het
Vmn1r191 A G 13: 22,362,942 (GRCm39) C271R probably benign Het
Zfp592 T C 7: 80,673,200 (GRCm39) S55P probably damaging Het
Zmynd15 T C 11: 70,351,867 (GRCm39) S158P probably benign Het
Zscan22 T G 7: 12,640,664 (GRCm39) C303G probably 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
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
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'- GCAGAGCCCAATCTAGTGAGTG -3'
(R):5'- CCGTTGACAAATACGGTCAGTAG -3'

Sequencing Primer
(F):5'- CCCAATCTAGTGAGTGAAATGTCAGC -3'
(R):5'- CAGTAGATAGATAGTCGGTCATGTC -3'
Posted On 2019-10-07