Incidental Mutation 'IGL03106:Arg2'
ID 418973
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 # IGL03106
Quality Score
Status
Chromosome 12
Chromosomal Location 79177562-79203075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79196665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 129 (G129S)
Ref Sequence ENSEMBL: ENSMUSP00000021550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021550]
AlphaFold O08691
Predicted Effect probably damaging
Transcript: ENSMUST00000021550
AA Change: G129S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125
AA Change: G129S

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 G T 8: 25,205,135 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,621,018 (GRCm39) N3911S probably benign Het
Alox12b C T 11: 69,059,702 (GRCm39) Q585* probably null Het
Amtn A G 5: 88,525,944 (GRCm39) Q36R probably benign Het
Arhgef28 A C 13: 98,094,301 (GRCm39) Y948D probably damaging Het
Atp10b T C 11: 43,138,304 (GRCm39) V1195A probably benign Het
Bet1l G T 7: 140,434,523 (GRCm39) T42K probably benign Het
Cabin1 G A 10: 75,569,462 (GRCm39) T875I probably benign Het
Ccdc17 A G 4: 116,454,033 (GRCm39) probably null Het
Crebrf A G 17: 26,990,293 (GRCm39) E612G probably damaging Het
Cyp2c67 A T 19: 39,632,119 (GRCm39) M83K probably benign Het
Dgkz A G 2: 91,771,204 (GRCm39) S414P probably damaging Het
Dock10 G T 1: 80,546,551 (GRCm39) H411N probably damaging Het
Dpyd A T 3: 118,988,783 (GRCm39) T749S probably benign Het
Dsc1 C T 18: 20,219,701 (GRCm39) probably null Het
Echdc1 A T 10: 29,198,276 (GRCm39) M74L probably damaging Het
Edn1 C A 13: 42,458,499 (GRCm39) T104K possibly damaging Het
Fat2 T A 11: 55,202,727 (GRCm39) T116S probably benign Het
Fcrl5 A T 3: 87,343,190 (GRCm39) probably null Het
Fpgt C T 3: 154,792,759 (GRCm39) G423R probably damaging Het
Gprc5b A T 7: 118,583,416 (GRCm39) V151E probably damaging Het
Grm5 A G 7: 87,685,278 (GRCm39) Y465C probably damaging Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Ighmbp2 T C 19: 3,323,022 (GRCm39) K308R possibly damaging Het
Lrch1 A T 14: 75,073,202 (GRCm39) S146T possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mterf3 T C 13: 67,078,221 (GRCm39) K16R probably damaging Het
Ncapg T A 5: 45,853,010 (GRCm39) H825Q probably damaging Het
Or2t1 G A 14: 14,328,851 (GRCm38) V247I probably damaging Het
Or2y1f T A 11: 49,184,988 (GRCm39) I280N probably damaging Het
Or4d5 A G 9: 40,012,030 (GRCm39) V252A probably damaging Het
Or5b95 G A 19: 12,658,287 (GRCm39) V272M possibly damaging Het
Or5t15 A C 2: 86,681,958 (GRCm39) L28R possibly damaging Het
Or5w15 A T 2: 87,568,462 (GRCm39) S69T probably benign Het
Pald1 A T 10: 61,182,884 (GRCm39) M355K probably benign Het
Phc1 A G 6: 122,300,428 (GRCm39) probably benign Het
Phkb T A 8: 86,745,095 (GRCm39) probably benign Het
Pkn3 G T 2: 29,975,257 (GRCm39) R506L probably damaging Het
Plod2 T C 9: 92,455,620 (GRCm39) Y100H probably damaging Het
Prl7b1 G T 13: 27,790,918 (GRCm39) Q56K probably benign Het
Rhot1 T A 11: 80,133,407 (GRCm39) C229* probably null Het
Sema3a G A 5: 13,649,456 (GRCm39) R735Q probably damaging Het
Slc18b1 A G 10: 23,702,557 (GRCm39) *460W probably null Het
Slco6c1 T A 1: 96,993,748 (GRCm39) probably benign Het
Slu7 T A 11: 43,333,457 (GRCm39) V359D possibly damaging Het
Suco T C 1: 161,662,049 (GRCm39) Y794C possibly damaging Het
Sult3a2 T C 10: 33,655,769 (GRCm39) N70S probably benign Het
Taar2 A T 10: 23,817,195 (GRCm39) D245V probably damaging Het
Taf1d A G 9: 15,221,237 (GRCm39) H181R possibly damaging Het
Tmem33 T C 5: 67,421,139 (GRCm39) S38P probably damaging Het
Traf3ip1 T C 1: 91,450,609 (GRCm39) S519P probably benign Het
Ttc12 T C 9: 49,369,362 (GRCm39) K253E possibly damaging Het
Other mutations in Arg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Arg2 APN 12 79,196,633 (GRCm39) splice site probably benign
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
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 2016-08-02