Incidental Mutation 'IGL01546:Arg2'
ID 90352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arg2
Ensembl Gene ENSMUSG00000021125
Gene Name arginase type II
Synonyms AII
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01546
Quality Score
Status
Chromosome 12
Chromosomal Location 79177562-79203075 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 79196633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021550]
AlphaFold O08691
Predicted Effect probably benign
Transcript: ENSMUST00000021550
SMART Domains Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125

DomainStartEndE-ValueType
Pfam:Arginase 24 324 7.4e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218917
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in elevated plasma arginine concentrations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 C A 17: 24,382,574 (GRCm39) R22L probably benign Het
Catip T C 1: 74,401,954 (GRCm39) L43P probably damaging Het
Ccdc30 A C 4: 119,255,385 (GRCm39) L123R probably damaging Het
Cep89 T C 7: 35,120,325 (GRCm39) L369P probably damaging Het
Dolpp1 T C 2: 30,287,107 (GRCm39) F180L probably damaging Het
Kctd19 T C 8: 106,113,594 (GRCm39) H670R probably benign Het
Kntc1 T A 5: 123,903,068 (GRCm39) I315N probably benign Het
Mfsd4b2 A T 10: 39,797,471 (GRCm39) W295R probably damaging Het
Mgam A G 6: 40,631,627 (GRCm39) T116A probably damaging Het
Mn1 A T 5: 111,569,114 (GRCm39) D1028V probably damaging Het
Or1e17 G A 11: 73,832,020 (GRCm39) G316D probably benign Het
Or2ag1b A G 7: 106,288,738 (GRCm39) S67P probably damaging Het
Or52b1 T C 7: 104,978,899 (GRCm39) R167G probably damaging Het
Or52j3 A T 7: 102,836,617 (GRCm39) I270F probably damaging Het
Or7a40 A G 16: 16,491,129 (GRCm39) S239P probably damaging Het
Or7g27 T G 9: 19,250,068 (GRCm39) V104G possibly damaging Het
Phc3 C A 3: 31,015,888 (GRCm39) A108S probably damaging Het
Pkhd1l1 A G 15: 44,429,712 (GRCm39) Y3310C probably damaging Het
Ppp4r3b T C 11: 29,159,488 (GRCm39) probably null Het
Slx4ip A G 2: 136,908,119 (GRCm39) T159A probably benign Het
Sos1 T A 17: 80,716,040 (GRCm39) Y974F probably damaging Het
Spaca7b T A 8: 11,706,136 (GRCm39) M133L probably benign Het
Taar8a A T 10: 23,952,813 (GRCm39) Y139F possibly damaging Het
Vcam1 A G 3: 115,909,591 (GRCm39) C579R possibly damaging Het
Zdhhc17 C T 10: 110,782,054 (GRCm39) V547M probably damaging Het
Other mutations in Arg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02494:Arg2 APN 12 79,198,697 (GRCm39) missense probably benign 0.00
IGL02512:Arg2 APN 12 79,194,517 (GRCm39) missense probably benign 0.01
IGL02543:Arg2 APN 12 79,197,533 (GRCm39) missense probably benign 0.02
IGL02974:Arg2 APN 12 79,197,566 (GRCm39) missense probably damaging 1.00
IGL03106:Arg2 APN 12 79,196,665 (GRCm39) missense probably damaging 0.99
IGL03240:Arg2 APN 12 79,178,605 (GRCm39) splice site probably null
R0119:Arg2 UTSW 12 79,194,386 (GRCm39) missense probably damaging 1.00
R0136:Arg2 UTSW 12 79,196,780 (GRCm39) missense probably damaging 1.00
R0299:Arg2 UTSW 12 79,194,386 (GRCm39) missense probably damaging 1.00
R1856:Arg2 UTSW 12 79,194,436 (GRCm39) missense probably benign
R1863:Arg2 UTSW 12 79,196,794 (GRCm39) nonsense probably null
R4369:Arg2 UTSW 12 79,196,746 (GRCm39) missense probably damaging 0.99
R4901:Arg2 UTSW 12 79,194,485 (GRCm39) missense probably damaging 1.00
R7251:Arg2 UTSW 12 79,197,572 (GRCm39) missense probably damaging 0.99
R8683:Arg2 UTSW 12 79,196,794 (GRCm39) nonsense probably null
Posted On 2013-12-03