Incidental Mutation 'IGL02494:Arg2'
ID295787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arg2
Ensembl Gene ENSMUSG00000021125
Gene Namearginase type II
SynonymsAII
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02494
Quality Score
Status
Chromosome12
Chromosomal Location79130777-79156301 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79151923 bp
ZygosityHeterozygous
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]
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 C178Y possibly damaging Het
Ash1l T A 3: 89,066,218 L2528* probably null Het
Astn2 T A 4: 65,992,348 M468L probably benign Het
Bglap2 A T 3: 88,377,936 C74* probably null Het
Cand1 A G 10: 119,213,617 V408A probably benign Het
Ccdc14 A G 16: 34,723,414 Y714C probably damaging Het
Ccdc88c C T 12: 100,945,475 G707D probably benign Het
Cdk13 G A 13: 17,739,125 R890* probably null Het
Cep192 A G 18: 67,804,383 E61G probably benign Het
Ctdspl T C 9: 119,037,416 L181P probably damaging Het
Dock7 C T 4: 98,989,234 V442M probably benign Het
Dopey1 T C 9: 86,526,818 V1860A probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fscn2 G A 11: 120,362,402 V232M probably benign Het
Gemin5 A T 11: 58,121,757 C1458S probably benign Het
Glrb A G 3: 80,845,232 V408A probably benign Het
Gtse1 C T 15: 85,867,503 P299L probably damaging Het
Hcfc1r1 T A 17: 23,674,585 M46K probably damaging Het
Hdc A G 2: 126,594,121 F610S probably benign Het
Hip1 A T 5: 135,444,791 C224* probably null Het
Hsd17b10 G T X: 152,004,234 A241S probably benign Het
Igsf10 G T 3: 59,328,006 Q1585K probably damaging Het
Kat2b T C 17: 53,653,205 Y514H probably damaging Het
Krt78 T C 15: 101,954,051 I58M probably benign Het
Lcat C A 8: 105,941,939 probably benign Het
Naca G A 10: 128,041,310 probably benign Het
Nbea T C 3: 55,805,351 K2102E probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1272 G A 2: 90,281,951 S208F probably benign Het
Olfr371 C A 8: 85,230,683 L63I possibly damaging Het
Olfr395 A C 11: 73,906,724 I256S possibly damaging Het
Olfr732 A T 14: 50,282,226 V9D probably damaging Het
Patj T A 4: 98,703,987 probably benign Het
Pcdhb17 G A 18: 37,485,294 A46T possibly damaging Het
Phf8 T C X: 151,625,231 V859A probably benign Het
Plec T A 15: 76,176,779 E3054V probably damaging Het
Prr12 C A 7: 45,028,846 K1958N unknown Het
Psmf1 A G 2: 151,741,009 probably null Het
Rsu1 T C 2: 13,217,191 probably null Het
Samm50 T C 15: 84,195,814 V31A probably benign Het
St14 A G 9: 31,108,645 V56A possibly damaging Het
Trpc1 T C 9: 95,708,307 N699S probably damaging Het
Ttn A T 2: 76,743,800 M25583K probably damaging Het
Utrn A G 10: 12,710,054 V993A probably benign Het
Other mutations in Arg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Arg2 APN 12 79149859 splice site probably benign
IGL02512:Arg2 APN 12 79147743 missense probably benign 0.01
IGL02543:Arg2 APN 12 79150759 missense probably benign 0.02
IGL02974:Arg2 APN 12 79150792 missense probably damaging 1.00
IGL03106:Arg2 APN 12 79149891 missense probably damaging 0.99
IGL03240:Arg2 APN 12 79131831 splice site probably null
R0119:Arg2 UTSW 12 79147612 missense probably damaging 1.00
R0136:Arg2 UTSW 12 79150006 missense probably damaging 1.00
R0299:Arg2 UTSW 12 79147612 missense probably damaging 1.00
R1856:Arg2 UTSW 12 79147662 missense probably benign
R1863:Arg2 UTSW 12 79150020 nonsense probably null
R4369:Arg2 UTSW 12 79149972 missense probably damaging 0.99
R4901:Arg2 UTSW 12 79147711 missense probably damaging 1.00
R7251:Arg2 UTSW 12 79150798 missense probably damaging 0.99
R8683:Arg2 UTSW 12 79150020 nonsense probably null
Posted On2015-04-16