Incidental Mutation 'R1965:Arg1'
ID 266026
Institutional Source Beutler Lab
Gene Symbol Arg1
Ensembl Gene ENSMUSG00000019987
Gene Name arginase, liver
Synonyms Arg-1, AI, PGIF
MMRRC Submission 039978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R1965 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 24791105-24803368 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 24792762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020159] [ENSMUST00000020161] [ENSMUST00000092646] [ENSMUST00000176285]
AlphaFold Q61176
Predicted Effect probably benign
Transcript: ENSMUST00000020159
SMART Domains Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 3 1310 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000020161
SMART Domains Protein: ENSMUSP00000020161
Gene: ENSMUSG00000019987

DomainStartEndE-ValueType
Pfam:Arginase 6 305 1.4e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092646
SMART Domains Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 4 1316 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176285
SMART Domains Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984

DomainStartEndE-ValueType
Pfam:Med23 1 51 4.4e-14 PFAM
Pfam:Med23 48 950 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218260
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
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 exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a null allele show postnatal lethality, hyperammonemia, argininemia, altered plasma levels of other amino acids, enlarged pale livers, and abnormal hepatocytes. Mice homozygous for a different null allele show postnatal lethality, andincreased macrophage nitric oxide production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T G 4: 40,175,730 (GRCm39) L157R probably damaging Het
Acot11 A T 4: 106,606,550 (GRCm39) L513Q probably damaging Het
Amd1 A G 10: 40,170,755 (GRCm39) I52T probably benign Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arel1 T A 12: 84,987,173 (GRCm39) probably null Het
Atf1 A T 15: 100,152,052 (GRCm39) M135L probably benign Het
Atf2 T C 2: 73,681,242 (GRCm39) E77G possibly damaging Het
Axin1 G T 17: 26,403,199 (GRCm39) A394S probably damaging Het
Axin1 A T 17: 26,409,202 (GRCm39) Q734L probably damaging Het
Brd8 G C 18: 34,735,819 (GRCm39) A886G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Celf3 T C 3: 94,392,634 (GRCm39) V35A probably damaging Het
Cfap299 T A 5: 98,494,093 (GRCm39) D32E probably damaging Het
Ckap2 T C 8: 22,665,803 (GRCm39) T415A possibly damaging Het
Crybg3 T C 16: 59,323,600 (GRCm39) Y1066C probably damaging Het
Csmd3 T C 15: 47,713,144 (GRCm39) H1506R probably benign Het
Dnah10 A G 5: 124,852,267 (GRCm39) D1808G probably damaging Het
Dsc3 C T 18: 20,113,729 (GRCm39) G398R probably damaging Het
Emc2 A G 15: 43,390,863 (GRCm39) Q293R probably damaging Het
Evc2 A G 5: 37,520,876 (GRCm39) N251D possibly damaging Het
Fam151a A T 4: 106,591,112 (GRCm39) probably benign Het
Fbxw16 T A 9: 109,270,289 (GRCm39) I151F probably damaging Het
Fmnl2 A G 2: 53,004,880 (GRCm39) D658G probably damaging Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Foxc2 T A 8: 121,843,413 (GRCm39) S20R probably damaging Het
Fpr-rs6 C T 17: 20,402,918 (GRCm39) G148R probably damaging Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Fyb2 A T 4: 104,770,846 (GRCm39) I54F probably benign Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gldc G A 19: 30,114,513 (GRCm39) R466* probably null Het
Gm12695 T A 4: 96,651,082 (GRCm39) S124C probably benign Het
Gm4846 A T 1: 166,314,533 (GRCm39) I370N possibly damaging Het
Gsdmc3 T C 15: 63,730,296 (GRCm39) T423A probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnmb3 T C 3: 32,526,492 (GRCm39) Y233C probably damaging Het
Kidins220 A G 12: 25,044,905 (GRCm39) D191G probably damaging Het
Kmt2a A G 9: 44,732,757 (GRCm39) probably benign Het
Krt1 T C 15: 101,757,427 (GRCm39) D261G probably benign Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Myo1f C T 17: 33,817,146 (GRCm39) R730* probably null Het
Ncoa7 C A 10: 30,530,426 (GRCm39) E30* probably null Het
Neurod4 T A 10: 130,106,918 (GRCm39) K119* probably null Het
Npy5r T C 8: 67,133,929 (GRCm39) D288G probably benign Het
Nr3c2 A T 8: 77,636,092 (GRCm39) I398L probably damaging Het
Or10a5 T C 7: 106,635,565 (GRCm39) S68P probably damaging Het
Or12j4 C A 7: 140,046,574 (GRCm39) F153L probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or4k35 T C 2: 111,099,938 (GRCm39) Y258C probably damaging Het
Or51v8 A T 7: 103,320,103 (GRCm39) I45N probably damaging Het
Or5g25 T C 2: 85,478,090 (GRCm39) T192A possibly damaging Het
Or5w8 A G 2: 87,687,759 (GRCm39) K80R probably benign Het
Or9m1b A G 2: 87,836,648 (GRCm39) F149S probably damaging Het
P3r3urf G A 4: 116,031,376 (GRCm39) C82Y probably damaging Het
Pcf11 A T 7: 92,310,809 (GRCm39) M393K probably benign Het
Pck2 T C 14: 55,779,964 (GRCm39) V71A probably benign Het
Pdzd8 G T 19: 59,288,554 (GRCm39) L949I probably benign Het
Pdzrn4 G A 15: 92,644,190 (GRCm39) probably null Het
Phospho1 A G 11: 95,721,705 (GRCm39) N125S probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Ppp1r1b A G 11: 98,246,189 (GRCm39) E57G probably damaging Het
Prtg T G 9: 72,755,604 (GRCm39) S269A probably benign Het
Rbbp5 T A 1: 132,422,035 (GRCm39) S312T probably damaging Het
Rbm11 T A 16: 75,395,656 (GRCm39) probably null Het
Retreg1 A G 15: 25,970,250 (GRCm39) T139A probably damaging Het
Riok3 T A 18: 12,270,019 (GRCm39) H120Q probably damaging Het
Rln1 A T 19: 29,311,995 (GRCm39) M1K probably null Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Sccpdh C T 1: 179,511,879 (GRCm39) P117L probably damaging Het
Serac1 T C 17: 6,099,274 (GRCm39) K506E possibly damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Slc1a2 T A 2: 102,570,245 (GRCm39) N174K probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Slc46a2 T A 4: 59,914,249 (GRCm39) S225C probably damaging Het
Smarcc2 G A 10: 128,310,627 (GRCm39) E419K probably damaging Het
Stkld1 T A 2: 26,836,744 (GRCm39) probably null Het
Szt2 A G 4: 118,241,162 (GRCm39) M1704T probably benign Het
Tasor T G 14: 27,164,511 (GRCm39) C272W probably damaging Het
Tfcp2l1 C T 1: 118,580,653 (GRCm39) Q116* probably null Het
Timm44 A G 8: 4,310,603 (GRCm39) M383T possibly damaging Het
Tnpo2 G A 8: 85,771,946 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,640 (GRCm39) K714R probably damaging Het
Wdfy3 A G 5: 102,099,178 (GRCm39) L290P probably damaging Het
Wdr59 A G 8: 112,177,709 (GRCm39) F898L probably damaging Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp879 A T 11: 50,724,355 (GRCm39) C234S probably damaging Het
Other mutations in Arg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02011:Arg1 APN 10 24,792,275 (GRCm39) missense probably benign 0.00
IGL02889:Arg1 APN 10 24,791,653 (GRCm39) missense probably damaging 0.98
R0180:Arg1 UTSW 10 24,792,728 (GRCm39) missense probably benign
R0256:Arg1 UTSW 10 24,792,356 (GRCm39) missense probably benign 0.00
R0588:Arg1 UTSW 10 24,796,522 (GRCm39) missense probably damaging 1.00
R1014:Arg1 UTSW 10 24,792,758 (GRCm39) missense probably benign
R1327:Arg1 UTSW 10 24,796,702 (GRCm39) splice site probably null
R2071:Arg1 UTSW 10 24,798,561 (GRCm39) missense probably benign 0.00
R2118:Arg1 UTSW 10 24,796,621 (GRCm39) missense possibly damaging 0.58
R4158:Arg1 UTSW 10 24,798,575 (GRCm39) missense probably damaging 1.00
R4858:Arg1 UTSW 10 24,798,536 (GRCm39) missense possibly damaging 0.73
R5741:Arg1 UTSW 10 24,793,897 (GRCm39) missense probably benign
R5793:Arg1 UTSW 10 24,796,540 (GRCm39) missense probably benign 0.36
R7453:Arg1 UTSW 10 24,791,674 (GRCm39) missense probably damaging 1.00
R7634:Arg1 UTSW 10 24,791,627 (GRCm39) missense possibly damaging 0.46
R7760:Arg1 UTSW 10 24,803,361 (GRCm39) start gained probably benign
R7803:Arg1 UTSW 10 24,792,689 (GRCm39) missense possibly damaging 0.95
R9148:Arg1 UTSW 10 24,796,655 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2015-02-05