Incidental Mutation 'R0588:Arg1'
ID 55841
Institutional Source Beutler Lab
Gene Symbol Arg1
Ensembl Gene ENSMUSG00000019987
Gene Name arginase, liver
Synonyms Arg-1, AI, PGIF
MMRRC Submission 038778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R0588 (G1)
Quality Score 183
Status Validated
Chromosome 10
Chromosomal Location 24791105-24803368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24796522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 102 (S102G)
Ref Sequence ENSEMBL: ENSMUSP00000020161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020161]
AlphaFold Q61176
Predicted Effect probably damaging
Transcript: ENSMUST00000020161
AA Change: S102G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020161
Gene: ENSMUSG00000019987
AA Change: S102G

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 0.5458 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (25/25)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,548,787 (GRCm39) K1299* probably null Het
Adamts2 G T 11: 50,667,491 (GRCm39) W476C probably damaging Het
Ankrd13c T C 3: 157,711,454 (GRCm39) F525L probably damaging Het
Atp2a3 A T 11: 72,863,850 (GRCm39) D192V possibly damaging Het
Cabin1 T C 10: 75,581,171 (GRCm39) E385G possibly damaging Het
Cacna1h A T 17: 25,606,538 (GRCm39) D1020E probably damaging Het
Calcb C T 7: 114,319,361 (GRCm39) H48Y probably benign Het
Crtc1 A G 8: 70,892,199 (GRCm39) S4P probably damaging Het
Dcaf6 A G 1: 165,247,792 (GRCm39) I147T possibly damaging Het
Ears2 T C 7: 121,643,514 (GRCm39) probably benign Het
Fas T C 19: 34,304,540 (GRCm39) V267A probably damaging Het
Fus T C 7: 127,584,746 (GRCm39) L84P probably damaging Het
Fyb1 T C 15: 6,609,940 (GRCm39) V171A probably benign Het
Gdap2 T A 3: 100,077,317 (GRCm39) M1K probably null Het
Gprc5b T A 7: 118,583,218 (GRCm39) Q217L probably benign Het
Lrrc69 A G 4: 14,704,001 (GRCm39) I273T possibly damaging Het
Map4k4 C A 1: 40,044,024 (GRCm39) Q556K possibly damaging Het
Npy6r T A 18: 44,408,888 (GRCm39) V103E possibly damaging Het
Or5b24 A G 19: 12,912,111 (GRCm39) Y3C probably benign Het
Shisa9 A G 16: 12,085,638 (GRCm39) T416A probably damaging Het
Slc26a9 C A 1: 131,681,749 (GRCm39) probably benign Het
Sostdc1 G T 12: 36,367,020 (GRCm39) probably benign Het
St18 T A 1: 6,887,962 (GRCm39) F510L probably damaging Het
Zdhhc7 A G 8: 120,810,106 (GRCm39) probably benign 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
R1014:Arg1 UTSW 10 24,792,758 (GRCm39) missense probably benign
R1327:Arg1 UTSW 10 24,796,702 (GRCm39) splice site probably null
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'- TTGCTCTGGCATCATGCCCTGG -3'
(R):5'- TATGACGTGAGAGACCACGGGGACC -3'

Sequencing Primer
(F):5'- GCCTGAGGAGCTGAAATGTG -3'
(R):5'- ACCTGGCCTTTGTTGATGTCC -3'
Posted On 2013-07-11