Incidental Mutation 'R4369:Arg2'
ID 325910
Institutional Source Beutler Lab
Gene Symbol Arg2
Ensembl Gene ENSMUSG00000021125
Gene Name arginase type II
Synonyms AII
MMRRC Submission 041116-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4369 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 79177562-79203075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79196746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 156 (S156P)
Ref Sequence ENSEMBL: ENSMUSP00000021550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021550]
AlphaFold O08691
Predicted Effect probably damaging
Transcript: ENSMUST00000021550
AA Change: S156P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125
AA Change: S156P

DomainStartEndE-ValueType
Pfam:Arginase 24 324 7.4e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218917
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,042 (GRCm39) probably benign Het
A730018C14Rik T C 12: 112,382,048 (GRCm39) noncoding transcript Het
Abcc1 T G 16: 14,278,857 (GRCm39) S1056A possibly damaging Het
Akr1c19 A T 13: 4,283,779 (GRCm39) K4* probably null Het
Amph T A 13: 19,321,870 (GRCm39) S516R probably benign Het
Apoh T C 11: 108,288,205 (GRCm39) F108L probably damaging Het
AU018091 A T 7: 3,207,815 (GRCm39) L582* probably null Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Bean1 T A 8: 104,943,742 (GRCm39) V275D probably damaging Het
Brpf3 C T 17: 29,055,594 (GRCm39) A1181V probably damaging Het
Cfb T C 17: 35,079,290 (GRCm39) K287R probably damaging Het
Cpd T C 11: 76,688,537 (GRCm39) N912D possibly damaging Het
Cyp4f14 T C 17: 33,128,232 (GRCm39) N261S probably benign Het
Dennd3 T C 15: 73,412,658 (GRCm39) I440T probably damaging Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dpep2 T G 8: 106,711,707 (GRCm39) L573F probably benign Het
Ebag9 T C 15: 44,491,865 (GRCm39) S86P probably benign Het
Epha1 T C 6: 42,342,391 (GRCm39) Y319C probably damaging Het
Eps8l3 T C 3: 107,798,330 (GRCm39) Y466H possibly damaging Het
Ercc6 A G 14: 32,239,164 (GRCm39) E84G probably damaging Het
Ffar1 A G 7: 30,560,033 (GRCm39) I288T probably benign Het
Flnb C T 14: 7,942,216 (GRCm38) T2398I probably benign Het
Galnt15 T C 14: 31,751,496 (GRCm39) F16S possibly damaging Het
Golgb1 A G 16: 36,737,269 (GRCm39) E2172G probably damaging Het
Lhx4 T A 1: 155,580,560 (GRCm39) H161L probably benign Het
Lrp1 T C 10: 127,386,155 (GRCm39) N3457S possibly damaging Het
Map7d1 A T 4: 126,128,866 (GRCm39) S436T probably damaging Het
Nmral1 T C 16: 4,532,394 (GRCm39) Y139C probably damaging Het
Noc2l A G 4: 156,321,853 (GRCm39) D84G possibly damaging Het
Or2a25 T A 6: 42,889,211 (GRCm39) Y251* probably null Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Osbpl11 T C 16: 33,045,018 (GRCm39) S386P probably damaging Het
Papss2 A G 19: 32,618,791 (GRCm39) H283R probably damaging Het
Pcdha11 T C 18: 37,139,796 (GRCm39) V475A possibly damaging Het
Pglyrp3 T C 3: 91,935,386 (GRCm39) I212T probably damaging Het
Pkhd1l1 C T 15: 44,368,949 (GRCm39) R865W probably benign Het
Prdm9 T C 17: 15,764,708 (GRCm39) T691A probably benign Het
Rnf121 T C 7: 101,673,313 (GRCm39) D206G probably benign Het
Rnf122 T A 8: 31,602,177 (GRCm39) M1K probably null Het
Shank2 T C 7: 143,733,518 (GRCm39) S22P probably damaging Het
Smg6 C T 11: 74,823,269 (GRCm39) R175* probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Thsd7a C T 6: 12,468,907 (GRCm39) C557Y probably damaging Het
Tiam2 A G 17: 3,464,242 (GRCm39) probably benign Het
Trgv4 T C 13: 19,369,567 (GRCm39) Y104H probably benign Het
Ttn C T 2: 76,594,345 (GRCm39) W18788* probably null Het
Vmn2r82 A T 10: 79,231,914 (GRCm39) I638F probably benign Het
Zswim6 A G 13: 107,863,229 (GRCm39) noncoding transcript 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGCTAGACCCTGACTTTGC -3'
(R):5'- CTGCCCAGTCCTTAGTAATGTAC -3'

Sequencing Primer
(F):5'- AGACCCTGACTTTGCCCTGG -3'
(R):5'- ATCTCAAAGCCCCAGGAT -3'
Posted On 2015-07-06