Incidental Mutation 'IGL02974:Arg2'
ID406258
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 #IGL02974
Quality Score
Status
Chromosome12
Chromosomal Location79130777-79156301 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79150792 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 195 (Y195H)
Ref Sequence ENSEMBL: ENSMUSP00000021550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021550]
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: 48,388,137 T242M probably damaging Het
Abcg3 A T 5: 104,968,263 I235N probably damaging Het
Agbl3 T C 6: 34,799,822 L416S probably damaging Het
Alcam T C 16: 52,295,716 D165G probably benign Het
Aldh18a1 T A 19: 40,569,084 I341F probably damaging Het
Amn T C 12: 111,271,141 V7A probably benign Het
Apc C T 18: 34,268,383 probably benign Het
Bdp1 A T 13: 100,055,292 M22K probably benign Het
Cacna1s T G 1: 136,092,617 N797K possibly damaging Het
Chd8 T A 14: 52,201,701 probably null Het
Clstn2 G A 9: 97,532,707 T378M probably damaging Het
Elf2 A G 3: 51,257,689 V298A probably damaging Het
Fbn1 C T 2: 125,346,330 D1530N probably null Het
Fcrls A T 3: 87,257,397 I274N possibly damaging Het
Fmo3 C T 1: 162,983,050 E24K probably damaging Het
Fndc3b A T 3: 27,488,276 N408K probably damaging Het
Foxn2 A T 17: 88,463,115 N130I probably damaging Het
Fscb T A 12: 64,471,525 I1056F unknown Het
Gimap5 A C 6: 48,753,377 T294P possibly damaging Het
Gm20489 T C X: 101,263,714 Q11R probably damaging Het
Gpr3 T C 4: 133,210,909 T151A possibly damaging Het
Gzmc T A 14: 56,233,994 H30L probably damaging Het
Ints6l C A X: 56,506,936 S845Y probably benign Het
Iqcf3 A T 9: 106,553,645 C101* probably null Het
Krt82 G A 15: 101,550,585 Q7* probably null Het
L3mbtl1 A T 2: 162,970,183 H716L possibly damaging Het
Lefty1 C A 1: 180,935,277 H56Q probably benign Het
Lrp1 T C 10: 127,555,016 Y3004C probably damaging Het
Lrp10 C A 14: 54,467,884 S177* probably null Het
Naa15 A G 3: 51,461,207 K576R possibly damaging Het
Naip2 A G 13: 100,161,678 S617P probably damaging Het
Olfm1 T G 2: 28,229,689 N445K probably damaging Het
Olfr1187-ps1 C T 2: 88,540,235 silent Het
Olfr1449 T G 19: 12,935,035 V99G probably benign Het
Ostm1 T A 10: 42,683,162 N139K probably damaging Het
Ovol1 A G 19: 5,551,149 Y205H probably damaging Het
Pappa C T 4: 65,204,935 L836F probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ppfia2 A G 10: 106,800,776 K229E probably benign Het
Ppm1b T A 17: 84,993,824 V44E possibly damaging Het
Rapgef1 T C 2: 29,710,216 F611L possibly damaging Het
Rev3l T A 10: 39,862,747 Y2832* probably null Het
Robo1 T A 16: 73,006,862 Y1099N probably benign Het
Sf3b1 T C 1: 55,007,707 H226R probably benign Het
Slc26a4 C T 12: 31,529,554 V570I probably damaging Het
Slc27a1 C A 8: 71,584,203 A361D probably damaging Het
Srp68 T C 11: 116,246,225 N549D probably benign Het
Terb1 G T 8: 104,494,968 S202* probably null Het
Tmc1 T A 19: 20,900,844 M96L probably benign Het
Tmprss11d A G 5: 86,306,376 V190A probably damaging Het
Ttll6 G A 11: 96,156,702 C709Y probably benign Het
Uba1 A G X: 20,678,720 H712R probably benign Het
Unc80 A C 1: 66,525,658 T835P possibly damaging Het
Vmn2r14 G A 5: 109,221,426 P94S possibly damaging Het
Yes1 C T 5: 32,660,768 A383V probably damaging Het
Other mutations in Arg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Arg2 APN 12 79149859 splice site probably benign
IGL02494:Arg2 APN 12 79151923 missense probably benign 0.00
IGL02512:Arg2 APN 12 79147743 missense probably benign 0.01
IGL02543:Arg2 APN 12 79150759 missense probably benign 0.02
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 On2016-08-02