Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03240:Arg2'

414265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arg2

Ensembl Gene

ENSMUSG00000021125

Gene Name

arginase type II

Synonyms

AII

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03240

Quality Score

Status

Chromosome

Chromosomal Location

79177562-79203075 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 79178605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021550 (fasta)

Gene Model

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

AlphaFold

O08691

Predicted Effect

probably null
Transcript: ENSMUST00000021550

SMART Domains

Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125

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

Coding Region Coverage

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 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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,350,365 (GRCm39)		probably benign	Het
AA467197	A	G	2: 122,481,182 (GRCm39)	T57A	probably benign	Het
Akap11	A	T	14: 78,733,345 (GRCm39)	D1852E	probably damaging	Het
Arhgef4	A	G	1: 34,845,107 (GRCm39)	D1437G	probably benign	Het
AW551984	C	A	9: 39,500,418 (GRCm39)	R780L	probably benign	Het
Baz1a	T	A	12: 54,974,352 (GRCm39)	K503*	probably null	Het
Bltp3a	C	A	17: 28,112,227 (GRCm39)	N1167K	probably benign	Het
Cdk2ap1	A	T	5: 124,484,207 (GRCm39)	H96Q	probably damaging	Het
Col11a1	T	A	3: 114,010,859 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,585,665 (GRCm39)		probably null	Het
Col22a1	G	A	15: 71,679,777 (GRCm39)	P877S	unknown	Het
Col7a1	A	T	9: 108,797,441 (GRCm39)	N1681Y	probably null	Het
Dennd1b	T	G	1: 139,067,130 (GRCm39)	S398A	possibly damaging	Het
Fgd2	C	T	17: 29,580,135 (GRCm39)		probably benign	Het
Hadh	T	C	3: 131,042,192 (GRCm39)	S98G	probably benign	Het
Has2	C	T	15: 56,531,656 (GRCm39)	R353H	probably damaging	Het
Heg1	T	C	16: 33,547,783 (GRCm39)	S857P	probably benign	Het
Hemgn	T	A	4: 46,400,732 (GRCm39)	R43*	probably null	Het
Htr4	A	T	18: 62,570,692 (GRCm39)	H249L	possibly damaging	Het
Hycc2	A	G	1: 58,569,076 (GRCm39)	L501P	probably damaging	Het
Iqgap3	T	C	3: 88,022,281 (GRCm39)	S495P	probably benign	Het
Kars1	T	C	8: 112,732,271 (GRCm39)	D99G	probably benign	Het
Krt40	T	A	11: 99,428,394 (GRCm39)	S333C	probably damaging	Het
Lamc2	T	C	1: 152,999,871 (GRCm39)	I1163V	probably damaging	Het
Lrrn2	A	T	1: 132,866,065 (GRCm39)	I377F	possibly damaging	Het
Mcm5	T	A	8: 75,842,530 (GRCm39)	I268N	probably damaging	Het
Mmp21	G	T	7: 133,276,300 (GRCm39)	H514Q	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Mybbp1a	A	G	11: 72,336,492 (GRCm39)	T495A	possibly damaging	Het
Myo10	T	A	15: 25,701,688 (GRCm39)	V21E	probably damaging	Het
Nap1l4	A	G	7: 143,091,982 (GRCm39)	S49P	probably benign	Het
Ncoa2	G	A	1: 13,247,316 (GRCm39)	S369F	probably damaging	Het
Niban2	A	C	2: 32,812,109 (GRCm39)	Y397S	probably benign	Het
Or5g9	A	T	2: 85,552,675 (GRCm39)	K309*	probably null	Het
Pon2	A	G	6: 5,265,316 (GRCm39)		probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Psmd6	A	G	14: 14,112,393 (GRCm38)		probably benign	Het
Ptprk	G	T	10: 28,368,957 (GRCm39)	R643L	probably damaging	Het
Ptprq	T	A	10: 107,524,368 (GRCm39)	Y455F	probably benign	Het
Sec23b	G	A	2: 144,408,679 (GRCm39)		probably benign	Het
Sh3pxd2a	A	G	19: 47,256,465 (GRCm39)	L751P	probably damaging	Het
Snx6	T	A	12: 54,830,228 (GRCm39)	H77L	probably damaging	Het
Svep1	C	A	4: 58,048,188 (GRCm39)	C3472F	possibly damaging	Het
Trpd52l3	A	T	19: 29,981,396 (GRCm39)	E50D	probably damaging	Het
Ttc33	A	G	15: 5,246,809 (GRCm39)	D205G	probably damaging	Het
Tubgcp3	A	T	8: 12,699,797 (GRCm39)	V352E	probably benign	Het
Tulp2	T	G	7: 45,171,734 (GRCm39)	F436C	probably damaging	Het
Vmn1r123	T	A	7: 20,896,282 (GRCm39)	M58K	possibly damaging	Het
Vmn2r113	T	C	17: 23,174,931 (GRCm39)	V514A	probably benign	Het
Vps13c	T	C	9: 67,862,329 (GRCm39)	V2982A	probably benign	Het
Ywhaq	T	C	12: 21,445,001 (GRCm39)	T215A	possibly damaging	Het
Zfp677	A	T	17: 21,617,135 (GRCm39)	H64L	probably damaging	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
R0119:Arg2	UTSW	12	79,194,386 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02