Incidental Mutation 'R1327:Arg1'
ID 157251
Institutional Source Beutler Lab
Gene Symbol Arg1
Ensembl Gene ENSMUSG00000019987
Gene Name arginase, liver
Synonyms Arg-1, AI, PGIF
MMRRC Submission 039393-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R1327 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 24791105-24803368 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 24796702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020161] [ENSMUST00000020161]
AlphaFold Q61176
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 null
Transcript: ENSMUST00000020161
SMART Domains Protein: ENSMUSP00000020161
Gene: ENSMUSG00000019987

DomainStartEndE-ValueType
Pfam:Arginase 6 305 1.4e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220186
Meta Mutation Damage Score 0.2191 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 88.1%
Validation Efficiency 97% (38/39)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 T C 1: 180,560,748 (GRCm39) F99L possibly damaging Het
Bsnd C T 4: 106,343,809 (GRCm39) E166K probably benign Het
Cxcl9 A G 5: 92,474,709 (GRCm39) C30R probably damaging Het
Ect2l C T 10: 18,041,290 (GRCm39) R296H probably benign Het
Epha5 C A 5: 84,254,644 (GRCm39) D632Y probably damaging Het
Fbxw11 T C 11: 32,661,859 (GRCm39) Y79H probably benign Het
Fh1 A G 1: 175,437,310 (GRCm39) M263T probably benign Het
Mrgprb1 A T 7: 48,097,177 (GRCm39) I245N possibly damaging Het
Ms4a13 A T 19: 11,161,251 (GRCm39) I96N probably damaging Het
Nipa2 G A 7: 55,594,256 (GRCm39) L38F possibly damaging Het
Pappa T A 4: 65,269,840 (GRCm39) probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf111 A T 9: 70,361,098 (GRCm39) D454E possibly damaging Het
Rp1 C T 1: 4,418,193 (GRCm39) G973D probably benign Het
Rtn3 A G 19: 7,408,376 (GRCm39) V922A possibly damaging Het
Setbp1 T C 18: 78,826,573 (GRCm39) M1347V probably benign Het
Slc6a6 A G 6: 91,703,016 (GRCm39) I130V probably benign Het
Smad7 T C 18: 75,509,016 (GRCm39) S48P probably benign Het
Star A G 8: 26,299,865 (GRCm39) D69G probably benign Het
Syne1 C A 10: 4,998,925 (GRCm39) probably benign Het
Synj1 A T 16: 90,743,743 (GRCm39) N1212K probably benign Het
Tep1 T C 14: 51,090,556 (GRCm39) M721V probably benign Het
Txndc11 T C 16: 10,934,678 (GRCm39) D223G possibly damaging Het
Vit G A 17: 78,932,629 (GRCm39) D579N probably damaging Het
Zan T C 5: 137,464,173 (GRCm39) probably benign Het
Zfp1005 A T 2: 150,108,070 (GRCm39) H10L possibly damaging Het
Zfp318 A G 17: 46,724,189 (GRCm39) E2064G probably damaging Het
Zftraf1 T A 15: 76,533,376 (GRCm39) T121S probably damaging Het
Zic5 T G 14: 122,697,191 (GRCm39) probably benign Het
Zzef1 T C 11: 72,784,240 (GRCm39) probably null 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
R1965:Arg1 UTSW 10 24,792,762 (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 PCR Primer
(F):5'- AGGGATATAGGCAGTCCACACACC -3'
(R):5'- GCTTGTGACAGAACGCACAGTCAG -3'

Sequencing Primer
(F):5'- AGTCCACACACCTGTGGTC -3'
(R):5'- acatctatacacacctatacacacc -3'
Posted On 2014-02-18