Incidental Mutation 'R0136:Arg2'
ID 21973
Institutional Source Beutler Lab
Gene Symbol Arg2
Ensembl Gene ENSMUSG00000021125
Gene Name arginase type II
Synonyms AII
MMRRC Submission 038421-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0136 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 79177562-79203075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79196780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 167 (L167P)
Ref Sequence ENSEMBL: ENSMUSP00000021550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021550]
AlphaFold O08691
Predicted Effect probably damaging
Transcript: ENSMUST00000021550
AA Change: L167P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125
AA Change: L167P

DomainStartEndE-ValueType
Pfam:Arginase 24 324 7.4e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218917
Meta Mutation Damage Score 0.7749 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 89% (56/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4b1 T C 3: 103,717,262 (GRCm39) M1T probably null Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Baz2b A G 2: 59,732,298 (GRCm39) V1949A probably benign Het
Bcl3 A G 7: 19,543,494 (GRCm39) V324A probably damaging Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Camta1 A G 4: 151,163,426 (GRCm39) S1479P probably damaging Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Col5a1 T C 2: 27,914,843 (GRCm39) L153P probably damaging Het
Crat C A 2: 30,297,042 (GRCm39) V304L probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Fau T C 19: 6,109,210 (GRCm39) V86A possibly damaging Het
Garem1 T G 18: 21,263,048 (GRCm39) S589R probably damaging Het
Gbp3 T G 3: 142,269,862 (GRCm39) probably null Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gtf2h1 A T 7: 46,464,840 (GRCm39) Q419L possibly damaging Het
Hipk3 A G 2: 104,269,638 (GRCm39) I517T probably benign Het
Hivep2 T C 10: 14,007,622 (GRCm39) S1407P probably benign Het
Hnrnpk G T 13: 58,542,991 (GRCm39) D211E probably benign Het
Hnrnpul2 T C 19: 8,804,165 (GRCm39) L588P probably damaging Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Itgb1 T G 8: 129,449,335 (GRCm39) Y585D possibly damaging Het
Kmt2d C T 15: 98,752,159 (GRCm39) probably benign Het
Map7d1 A T 4: 126,130,424 (GRCm39) probably null Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Med13l A G 5: 118,862,115 (GRCm39) T353A probably benign Het
Mgat4b T C 11: 50,121,908 (GRCm39) V143A possibly damaging Het
Mlxip T A 5: 123,580,369 (GRCm39) W211R probably damaging Het
Morc2a T G 11: 3,635,907 (GRCm39) probably null Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Ndufa10 A T 1: 92,390,850 (GRCm39) Y233* probably null Het
Nek8 C T 11: 78,062,033 (GRCm39) S237N probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfatc2ip A G 7: 125,990,507 (GRCm39) S165P probably benign Het
Nsd2 A G 5: 34,012,880 (GRCm39) K404E possibly damaging Het
Nsd3 G T 8: 26,149,870 (GRCm39) E352* probably null Het
Nudt9 A G 5: 104,194,972 (GRCm39) T23A probably benign Het
Or1e34 T C 11: 73,778,611 (GRCm39) M196V probably benign Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Or8b57 A G 9: 40,003,315 (GRCm39) *312Q probably null Het
Patj C A 4: 98,555,885 (GRCm39) Q297K probably damaging Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Pnpla3 G A 15: 84,058,679 (GRCm39) probably null Het
Pramel1 C A 4: 143,124,016 (GRCm39) N230K probably damaging Het
Psg20 A C 7: 18,416,432 (GRCm39) L228R probably damaging Het
Rsph10b T C 5: 143,896,639 (GRCm39) F44L probably benign Het
Septin2 G A 1: 93,434,772 (GRCm39) G358R possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Slc12a8 A G 16: 33,428,583 (GRCm39) D297G probably damaging Het
Slc17a5 G A 9: 78,485,956 (GRCm39) A43V probably damaging Het
Slc22a1 A T 17: 12,881,483 (GRCm39) F335L probably benign Het
Slc26a5 T C 5: 22,039,345 (GRCm39) N216S probably damaging Het
Snrnp27 T C 6: 86,653,187 (GRCm39) S144G probably benign Het
Spata20 T A 11: 94,371,435 (GRCm39) D643V probably damaging Het
Spata24 T C 18: 35,793,515 (GRCm39) K99R probably damaging Het
Taar5 A G 10: 23,847,607 (GRCm39) Y335C probably damaging Het
Tpr A G 1: 150,306,346 (GRCm39) H1540R probably benign Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Vmn2r37 A T 7: 9,220,782 (GRCm39) Y360* probably null Het
Ybx1 C A 4: 119,139,551 (GRCm39) R36L possibly damaging Het
Zfp369 A G 13: 65,445,016 (GRCm39) K720E probably benign Het
Zfp599 A G 9: 22,161,038 (GRCm39) S376P probably benign Het
Zic2 A G 14: 122,713,953 (GRCm39) E289G probably damaging Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTCTCACTGTAACCCAGCCTCAG -3'
(R):5'- TGTGTTTAGAGTGTGGCCTCCACC -3'

Sequencing Primer
(F):5'- AGGCTAGACCCTGACTTTGC -3'
(R):5'- AGTCCTTGGGCTATGGAAATACC -3'
Posted On 2013-04-12