Incidental Mutation 'R1174:Agxt2'
ID99849
Institutional Source Beutler Lab
Gene Symbol Agxt2
Ensembl Gene ENSMUSG00000089678
Gene Namealanine-glyoxylate aminotransferase 2
Synonyms
MMRRC Submission 039247-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #R1174 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location10358532-10410153 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10373751 bp
ZygosityHeterozygous
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]
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: 17,117,582 H214L probably benign Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Actn3 A G 19: 4,864,756 L477P probably damaging Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Alpk1 T A 3: 127,680,810 S515C probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Borcs5 T A 6: 134,710,133 N150K probably damaging Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cox4i1 C A 8: 120,674,050 N151K probably benign Het
Cpeb4 T C 11: 31,920,472 L432P probably damaging Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Fes A T 7: 80,377,951 I815N probably damaging Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm10093 A T 17: 78,492,078 Y166F probably benign Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Lypd6b C T 2: 49,943,597 A83V possibly damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mfsd13a T A 19: 46,374,686 I511N probably benign Het
Mrm3 T C 11: 76,250,024 V286A probably damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Neurl4 T C 11: 69,903,721 probably null Het
Pclo T C 5: 14,677,646 probably benign Het
Pcnt A T 10: 76,393,044 probably null Het
Pik3r4 G T 9: 105,663,174 G754C probably damaging Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Rgs12 T A 5: 34,966,465 C531S probably benign Het
Rin1 C A 19: 5,055,203 Q764K probably benign Het
Robo4 C T 9: 37,413,052 R959W probably damaging Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sos1 A C 17: 80,445,608 Y323* probably null Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Tas2r140 T C 6: 133,054,871 E308G probably benign Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Tle4 C T 19: 14,468,262 V207I probably benign Het
Txlnb A G 10: 17,842,756 N445S probably benign Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vwa1 C T 4: 155,773,266 G25D probably damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Other mutations in Agxt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Agxt2 APN 15 10393708 splice site probably null
IGL02434:Agxt2 APN 15 10358600 missense possibly damaging 0.83
IGL02824:Agxt2 APN 15 10393805 missense probably null 0.96
IGL02929:Agxt2 APN 15 10388293 splice site probably benign
IGL03368:Agxt2 APN 15 10388170 nonsense probably null
PIT4810001:Agxt2 UTSW 15 10399065 missense probably benign 0.00
R0179:Agxt2 UTSW 15 10399048 missense possibly damaging 0.71
R0526:Agxt2 UTSW 15 10373862 missense probably damaging 1.00
R1085:Agxt2 UTSW 15 10388252 missense probably benign 0.00
R1173:Agxt2 UTSW 15 10373751 missense probably damaging 1.00
R1387:Agxt2 UTSW 15 10380610 missense probably damaging 1.00
R1642:Agxt2 UTSW 15 10373831 missense probably damaging 1.00
R1938:Agxt2 UTSW 15 10391935 missense probably damaging 1.00
R3439:Agxt2 UTSW 15 10381425 missense probably benign 0.19
R4485:Agxt2 UTSW 15 10378882 missense possibly damaging 0.89
R4698:Agxt2 UTSW 15 10392044 critical splice donor site probably null
R5582:Agxt2 UTSW 15 10399159 missense probably damaging 1.00
R6056:Agxt2 UTSW 15 10378877 missense probably damaging 1.00
R6109:Agxt2 UTSW 15 10377422 missense probably damaging 1.00
R6393:Agxt2 UTSW 15 10393808 critical splice donor site probably null
R6868:Agxt2 UTSW 15 10373769 missense probably damaging 1.00
R7206:Agxt2 UTSW 15 10377456 missense probably damaging 0.99
R7275:Agxt2 UTSW 15 10358667 missense probably benign 0.00
R7475:Agxt2 UTSW 15 10409537 missense probably benign
R7792:Agxt2 UTSW 15 10381386 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15