Incidental Mutation 'IGL02494:Arg2'
ID 295787
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 # IGL02494
Quality Score
Status
Chromosome 12
Chromosomal Location 79177562-79203075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79198697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 242 (R242G)
Ref Sequence ENSEMBL: ENSMUSP00000021550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021550] [ENSMUST00000055262] [ENSMUST00000162569] [ENSMUST00000162789] [ENSMUST00000163031]
AlphaFold O08691
Predicted Effect probably benign
Transcript: ENSMUST00000021550
AA Change: R242G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125
AA Change: R242G

DomainStartEndE-ValueType
Pfam:Arginase 24 324 7.4e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055262
SMART Domains Protein: ENSMUSP00000057462
Gene: ENSMUSG00000021124

DomainStartEndE-ValueType
Pfam:V-SNARE 18 97 1.2e-21 PFAM
t_SNARE 131 198 2.01e-10 SMART
low complexity region 207 224 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162569
SMART Domains Protein: ENSMUSP00000124741
Gene: ENSMUSG00000021124

DomainStartEndE-ValueType
Pfam:V-SNARE 1 39 6.2e-12 PFAM
Pfam:V-SNARE_C 79 127 1.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162789
SMART Domains Protein: ENSMUSP00000124260
Gene: ENSMUSG00000021124

DomainStartEndE-ValueType
PDB:2QYW|A 1 38 2e-20 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000163031
SMART Domains Protein: ENSMUSP00000124464
Gene: ENSMUSG00000021124

DomainStartEndE-ValueType
Pfam:V-SNARE 1 45 4.5e-15 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 (GRCm39) C178Y possibly damaging Het
Ash1l T A 3: 88,973,525 (GRCm39) L2528* probably null Het
Astn2 T A 4: 65,910,585 (GRCm39) M468L probably benign Het
Bglap2 A T 3: 88,285,243 (GRCm39) C74* probably null Het
Cand1 A G 10: 119,049,522 (GRCm39) V408A probably benign Het
Ccdc14 A G 16: 34,543,784 (GRCm39) Y714C probably damaging Het
Ccdc88c C T 12: 100,911,734 (GRCm39) G707D probably benign Het
Cdk13 G A 13: 17,913,710 (GRCm39) R890* probably null Het
Cep192 A G 18: 67,937,453 (GRCm39) E61G probably benign Het
Ctdspl T C 9: 118,866,484 (GRCm39) L181P probably damaging Het
Dock7 C T 4: 98,877,471 (GRCm39) V442M probably benign Het
Dop1a T C 9: 86,408,871 (GRCm39) V1860A probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fscn2 G A 11: 120,253,228 (GRCm39) V232M probably benign Het
Gemin5 A T 11: 58,012,583 (GRCm39) C1458S probably benign Het
Glrb A G 3: 80,752,539 (GRCm39) V408A probably benign Het
Gtse1 C T 15: 85,751,704 (GRCm39) P299L probably damaging Het
Hcfc1r1 T A 17: 23,893,559 (GRCm39) M46K probably damaging Het
Hdc A G 2: 126,436,041 (GRCm39) F610S probably benign Het
Hip1 A T 5: 135,473,645 (GRCm39) C224* probably null Het
Hsd17b10 G T X: 150,787,230 (GRCm39) A241S probably benign Het
Igsf10 G T 3: 59,235,427 (GRCm39) Q1585K probably damaging Het
Kat2b T C 17: 53,960,233 (GRCm39) Y514H probably damaging Het
Krt78 T C 15: 101,862,486 (GRCm39) I58M probably benign Het
Lcat C A 8: 106,668,571 (GRCm39) probably benign Het
Naca G A 10: 127,877,179 (GRCm39) probably benign Het
Nbea T C 3: 55,712,772 (GRCm39) K2102E probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or1e35 A C 11: 73,797,550 (GRCm39) I256S possibly damaging Het
Or4b1b G A 2: 90,112,295 (GRCm39) S208F probably benign Het
Or4n4 A T 14: 50,519,683 (GRCm39) V9D probably damaging Het
Or7c19 C A 8: 85,957,312 (GRCm39) L63I possibly damaging Het
Patj T A 4: 98,592,224 (GRCm39) probably benign Het
Pcdhb17 G A 18: 37,618,347 (GRCm39) A46T possibly damaging Het
Phf8 T C X: 150,408,227 (GRCm39) V859A probably benign Het
Plec T A 15: 76,060,979 (GRCm39) E3054V probably damaging Het
Prr12 C A 7: 44,678,270 (GRCm39) K1958N unknown Het
Psmf1 A G 2: 151,582,929 (GRCm39) probably null Het
Rsu1 T C 2: 13,222,002 (GRCm39) probably null Het
Samm50 T C 15: 84,080,015 (GRCm39) V31A probably benign Het
St14 A G 9: 31,019,941 (GRCm39) V56A possibly damaging Het
Trpc1 T C 9: 95,590,360 (GRCm39) N699S probably damaging Het
Ttn A T 2: 76,574,144 (GRCm39) M25583K probably damaging Het
Utrn A G 10: 12,585,798 (GRCm39) V993A probably benign Het
Other mutations in Arg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Arg2 APN 12 79,196,633 (GRCm39) splice site probably benign
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 2015-04-16