|Institutional Source||Beutler Lab|
|Gene Name||arginase type II|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0136 (G1)|
|Chromosomal Location||79130777-79156301 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 79150006 bp|
|Amino Acid Change||Leucine to Proline at position 167 (L167P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021550 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021550]|
|Predicted Effect||probably damaging
AA Change: L167P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L167P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7749|
|Coding Region Coverage||
|Validation Efficiency||89% (56/63)|
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||
|Other mutations in Arg2||
(F):5'- TGTCTCACTGTAACCCAGCCTCAG -3'
(R):5'- TGTGTTTAGAGTGTGGCCTCCACC -3'
(F):5'- AGGCTAGACCCTGACTTTGC -3'
(R):5'- AGTCCTTGGGCTATGGAAATACC -3'