Incidental Mutation 'IGL02974:Arg2'
ID 406258
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 # IGL02974
Quality Score
Status
Chromosome 12
Chromosomal Location 79177562-79203075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79197566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 195 (Y195H)
Ref Sequence ENSEMBL: ENSMUSP00000021550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021550]
AlphaFold O08691
Predicted Effect probably damaging
Transcript: ENSMUST00000021550
AA Change: Y195H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125
AA Change: Y195H

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,545,479 (GRCm39) T242M probably damaging Het
Abcg3 A T 5: 105,116,129 (GRCm39) I235N probably damaging Het
Agbl3 T C 6: 34,776,757 (GRCm39) L416S probably damaging Het
Alcam T C 16: 52,116,079 (GRCm39) D165G probably benign Het
Aldh18a1 T A 19: 40,557,528 (GRCm39) I341F probably damaging Het
Amn T C 12: 111,237,575 (GRCm39) V7A probably benign Het
Apc C T 18: 34,401,436 (GRCm39) probably benign Het
Bdp1 A T 13: 100,191,800 (GRCm39) M22K probably benign Het
Cacna1s T G 1: 136,020,355 (GRCm39) N797K possibly damaging Het
Chd8 T A 14: 52,439,158 (GRCm39) probably null Het
Clstn2 G A 9: 97,414,760 (GRCm39) T378M probably damaging Het
Elf2 A G 3: 51,165,110 (GRCm39) V298A probably damaging Het
Fbn1 C T 2: 125,188,250 (GRCm39) D1530N probably null Het
Fcrl2 A T 3: 87,164,704 (GRCm39) I274N possibly damaging Het
Fmo3 C T 1: 162,810,619 (GRCm39) E24K probably damaging Het
Fndc3b A T 3: 27,542,425 (GRCm39) N408K probably damaging Het
Foxn2 A T 17: 88,770,543 (GRCm39) N130I probably damaging Het
Fscb T A 12: 64,518,299 (GRCm39) I1056F unknown Het
Gimap5 A C 6: 48,730,311 (GRCm39) T294P possibly damaging Het
Gm20489 T C X: 100,307,320 (GRCm39) Q11R probably damaging Het
Gpr3 T C 4: 132,938,220 (GRCm39) T151A possibly damaging Het
Gzmc T A 14: 56,471,451 (GRCm39) H30L probably damaging Het
Ints6l C A X: 55,552,296 (GRCm39) S845Y probably benign Het
Iqcf3 A T 9: 106,430,844 (GRCm39) C101* probably null Het
Krt82 G A 15: 101,459,020 (GRCm39) Q7* probably null Het
L3mbtl1 A T 2: 162,812,103 (GRCm39) H716L possibly damaging Het
Lefty1 C A 1: 180,762,842 (GRCm39) H56Q probably benign Het
Lrp1 T C 10: 127,390,885 (GRCm39) Y3004C probably damaging Het
Lrp10 C A 14: 54,705,341 (GRCm39) S177* probably null Het
Naa15 A G 3: 51,368,628 (GRCm39) K576R possibly damaging Het
Naip2 A G 13: 100,298,186 (GRCm39) S617P probably damaging Het
Olfm1 T G 2: 28,119,701 (GRCm39) N445K probably damaging Het
Or4ac1-ps1 C T 2: 88,370,579 (GRCm39) silent Het
Or5b24 T G 19: 12,912,399 (GRCm39) V99G probably benign Het
Ostm1 T A 10: 42,559,158 (GRCm39) N139K probably damaging Het
Ovol1 A G 19: 5,601,177 (GRCm39) Y205H probably damaging Het
Pappa C T 4: 65,123,172 (GRCm39) L836F probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ppfia2 A G 10: 106,636,637 (GRCm39) K229E probably benign Het
Ppm1b T A 17: 85,301,252 (GRCm39) V44E possibly damaging Het
Rapgef1 T C 2: 29,600,228 (GRCm39) F611L possibly damaging Het
Rev3l T A 10: 39,738,743 (GRCm39) Y2832* probably null Het
Robo1 T A 16: 72,803,750 (GRCm39) Y1099N probably benign Het
Sf3b1 T C 1: 55,046,866 (GRCm39) H226R probably benign Het
Slc26a4 C T 12: 31,579,553 (GRCm39) V570I probably damaging Het
Slc27a1 C A 8: 72,036,847 (GRCm39) A361D probably damaging Het
Srp68 T C 11: 116,137,051 (GRCm39) N549D probably benign Het
Terb1 G T 8: 105,221,600 (GRCm39) S202* probably null Het
Tmc1 T A 19: 20,878,208 (GRCm39) M96L probably benign Het
Tmprss11d A G 5: 86,454,235 (GRCm39) V190A probably damaging Het
Ttll6 G A 11: 96,047,528 (GRCm39) C709Y probably benign Het
Uba1 A G X: 20,544,959 (GRCm39) H712R probably benign Het
Unc80 A C 1: 66,564,817 (GRCm39) T835P possibly damaging Het
Vmn2r14 G A 5: 109,369,292 (GRCm39) P94S possibly damaging Het
Yes1 C T 5: 32,818,112 (GRCm39) A383V probably 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
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 2016-08-02