Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Arg2'

20996

Institutional Source

Beutler Lab

Gene Symbol

Arg2

Ensembl Gene

ENSMUSG00000021125

Gene Name

arginase type II

Synonyms

AII

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0119 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

79177562-79203075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79194386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 70 (D70G)

Ref Sequence

ENSEMBL: ENSMUSP00000021550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021550]

AlphaFold

O08691

Predicted Effect

probably damaging
Transcript: ENSMUST00000021550
AA Change: D70G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125
AA Change: D70G

Domain	Start	End	E-Value	Type
Pfam:Arginase	24	324	7.4e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218917

Meta Mutation Damage Score

0.2586

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adamts18	A	G	8: 114,501,585 (GRCm39)	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,559,449 (GRCm39)		probably benign	Het
Cap1	A	T	4: 122,761,492 (GRCm39)	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Caskin2	A	G	11: 115,693,253 (GRCm39)		probably benign	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Cd96	T	C	16: 45,858,942 (GRCm39)		probably benign	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1c	A	T	8: 93,833,345 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,834,238 (GRCm39)	L351M	probably benign	Het
Cnih3	T	A	1: 181,282,309 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Cry1	A	G	10: 84,969,104 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Elmo3	T	C	8: 106,036,400 (GRCm39)	L668S	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Gm839	A	T	6: 89,189,362 (GRCm39)		noncoding transcript	Het
Gng5	T	A	3: 146,209,048 (GRCm39)	C39S	probably damaging	Het
Gpr55	C	T	1: 85,869,146 (GRCm39)	W145*	probably null	Het
Hdlbp	A	C	1: 93,349,059 (GRCm39)		probably benign	Het
Man2a2	G	T	7: 80,017,153 (GRCm39)	N305K	probably damaging	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mier3	T	C	13: 111,851,572 (GRCm39)	V490A	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Mug2	T	A	6: 122,013,022 (GRCm39)	H311Q	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,360,252 (GRCm39)		probably null	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Pcdh15	T	C	10: 74,006,407 (GRCm39)	F95S	probably damaging	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Per3	A	G	4: 151,109,005 (GRCm39)		probably benign	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Rere	T	G	4: 150,699,779 (GRCm39)		probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 133,855,347 (GRCm39)	I33N	probably damaging	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,223,605 (GRCm39)	Q116K	probably damaging	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,921 (GRCm39)	V477A	possibly damaging	Het
Trim7	G	T	11: 48,740,539 (GRCm39)	R212L	probably damaging	Het
Trpm6	T	A	19: 18,809,957 (GRCm39)	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,275,723 (GRCm39)	E361G	probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Arg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0136:Arg2	UTSW	12	79,196,780 (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'- TGTGGAACTGTGGTCGGACAAAATG -3'
(R):5'- AGAACCTTGCTTAGTCTACCCCTGC -3'

Sequencing Primer
(F):5'- CTGTGGTCGGACAAAATGAGTATG -3'
(R):5'- TTCCTCCACGTAAGGACACTG -3'

Posted On

2013-04-11