Incidental Mutation 'IGL02434:Agxt2'
ID293225
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: 0.086) question?
Stock #IGL02434
Quality Score
Status
Chromosome15
Chromosomal Location10358532-10410153 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10358600 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 2 (S2P)
Ref Sequence ENSEMBL: ENSMUSP00000106170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000110540] [ENSMUST00000110541] [ENSMUST00000110542]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022858
AA Change: S2P

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: S2P

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: S2P

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106170
Gene: ENSMUSG00000089678
AA Change: S2P

DomainStartEndE-ValueType
Pfam:Aminotran_3 86 219 1.7e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110542
AA Change: S2P

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: S2P

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C A 15: 73,121,081 G525V probably damaging Het
Atg2b C T 12: 105,639,207 V339I probably benign Het
Btc T A 5: 91,362,327 I136F probably damaging Het
Cemip A T 7: 83,955,284 M850K probably damaging Het
Cfap54 T A 10: 93,066,754 T179S probably benign Het
Chd7 T C 4: 8,752,145 L214P probably benign Het
Garnl3 T A 2: 33,054,205 N114I probably damaging Het
Gm10010 G T 6: 128,200,470 noncoding transcript Het
Gstcd A G 3: 132,996,202 probably benign Het
Htr2b A G 1: 86,110,770 V38A probably benign Het
Hyal4 G A 6: 24,763,858 W339* probably null Het
Ifnb1 A G 4: 88,522,518 V86A probably damaging Het
Itpr1 A G 6: 108,489,922 probably null Het
Jag1 T C 2: 137,087,155 S794G probably benign Het
Kdm5c T A X: 152,233,562 M1K probably null Het
Lct A G 1: 128,303,790 V774A probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med14 A T X: 12,745,824 D371E possibly damaging Het
Nrcam A G 12: 44,590,243 probably benign Het
Olfr116 T A 17: 37,624,576 N20Y possibly damaging Het
Olfr670 A T 7: 104,960,072 M220K probably benign Het
Olfr670 A T 7: 104,960,074 Y219* probably null Het
Pitpnm1 C T 19: 4,103,377 R178W probably benign Het
Prkcg A G 7: 3,318,890 I324V probably benign Het
Prpmp5 T A 6: 132,312,376 R162W unknown Het
Prr30 A T 14: 101,198,368 C253S possibly damaging Het
Ptgis A T 2: 167,240,342 probably null Het
Rab11fip3 C T 17: 26,068,835 A115T possibly damaging Het
Reps2 C T X: 162,526,257 probably null Het
Rev3l A G 10: 39,822,591 D1028G probably damaging Het
Rsbn1l T C 5: 20,919,734 R357G probably damaging Het
Scn5a A G 9: 119,533,793 L587P possibly damaging Het
Tanc2 C T 11: 105,780,042 T155I probably benign Het
Tfb2m A G 1: 179,532,135 probably benign Het
Tfpi A G 2: 84,452,548 probably benign Het
Tg T C 15: 66,764,342 S593P probably damaging Het
Unc13c T C 9: 73,932,628 S314G probably benign Het
Other mutations in Agxt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Agxt2 APN 15 10393708 splice site probably null
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
Posted On2015-04-16