Incidental Mutation 'IGL01958:Agxt2'
ID181483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agxt2
Ensembl Gene ENSMUSG00000089678
Gene Namealanine-glyoxylate aminotransferase 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL01958
Quality Score
Status
Chromosome15
Chromosomal Location10358532-10410153 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 10393708 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000022858] [ENSMUST00000110542]
Predicted Effect probably null
Transcript: ENSMUST00000022858
SMART Domains Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678

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: ENSMUST00000022858
SMART Domains Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678

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
SMART Domains Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fam3c G A 6: 22,318,955 T149I probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Klhl22 A G 16: 17,776,462 I152V probably benign Het
Krtap5-2 C A 7: 142,175,722 G74* probably null Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rapgef5 A G 12: 117,730,651 I637V probably benign Het
Rasip1 A T 7: 45,636,764 R804* probably null Het
Relt A G 7: 100,851,143 V113A probably benign Het
Rnf215 G T 11: 4,140,317 C345F probably damaging Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Snapc4 T C 2: 26,366,440 probably benign Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zbtb45 C A 7: 13,006,276 A471S probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Agxt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1174: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
Posted On2014-05-07