Mutagenetix > Incidental Mutation

Incidental Mutation 'R4901:Arg2'

376178

Institutional Source

Beutler Lab

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 #

R4901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79177562-79203075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79194485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 103 (V103A)

Ref Sequence

ENSEMBL: ENSMUSP00000021550 (fasta)

Gene Model

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

AlphaFold

O08691

Predicted Effect

probably damaging
Transcript: ENSMUST00000021550
AA Change: V103A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021550
Gene: ENSMUSG00000021125
AA Change: V103A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218917

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,188,954 (GRCm39)		probably null	Het
Bicra	T	A	7: 15,721,526 (GRCm39)	T664S	possibly damaging	Het
Bptf	A	T	11: 107,001,686 (GRCm39)	Y475*	probably null	Het
Calcrl	T	C	2: 84,163,857 (GRCm39)	I445V	probably benign	Het
Ccdc110	G	A	8: 46,396,437 (GRCm39)	R776Q	probably benign	Het
Ccnc	A	G	4: 21,727,894 (GRCm39)	N4S	probably damaging	Het
Ccni	G	A	5: 93,331,003 (GRCm39)	R323W	probably damaging	Het
Celsr2	T	A	3: 108,314,303 (GRCm39)	M1241L	possibly damaging	Het
Cpd	T	C	11: 76,681,707 (GRCm39)	I1145M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2j8	T	A	4: 96,367,323 (GRCm39)	D265V	probably benign	Het
Dennd2a	T	C	6: 39,499,621 (GRCm39)	T315A	probably benign	Het
Dgkz	T	A	2: 91,767,076 (GRCm39)	Q905L	probably benign	Het
Dnah8	G	A	17: 31,059,688 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Gm136	G	A	4: 34,746,580 (GRCm39)	Q144*	probably null	Het
Gon4l	T	C	3: 88,815,458 (GRCm39)	V2008A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Isyna1	A	T	8: 71,049,246 (GRCm39)	H414L	probably damaging	Het
Kif20b	A	G	19: 34,911,836 (GRCm39)	Y233C	probably benign	Het
Klk1	A	T	7: 43,878,139 (GRCm39)	I132F	probably damaging	Het
Klre1	A	T	6: 129,561,188 (GRCm39)	H183L	probably benign	Het
Lrp1b	T	C	2: 40,711,657 (GRCm39)	T3188A	probably damaging	Het
Mapk12	A	T	15: 89,018,841 (GRCm39)	L198*	probably null	Het
Mt4	A	C	8: 94,864,912 (GRCm39)	T29P	possibly damaging	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Nr1h4	T	C	10: 89,314,659 (GRCm39)	Q269R	possibly damaging	Het
Or4p23	C	G	2: 88,577,231 (GRCm39)		probably null	Het
Or51e1	A	G	7: 102,359,405 (GRCm39)	H313R	probably benign	Het
Pde1b	A	G	15: 103,435,112 (GRCm39)	I421V	probably null	Het
Pde3b	A	T	7: 114,107,425 (GRCm39)	T519S	probably damaging	Het
Phf21a	T	A	2: 92,187,346 (GRCm39)	C178*	probably null	Het
Phtf2	A	G	5: 21,010,722 (GRCm39)	S88P	possibly damaging	Het
Pik3c3	A	G	18: 30,435,982 (GRCm39)	M394V	possibly damaging	Het
Plxnb1	C	T	9: 108,934,027 (GRCm39)	P752S	probably benign	Het
Pp2d1	C	A	17: 53,822,037 (GRCm39)	G343V	probably benign	Het
Ppp6r2	A	G	15: 89,143,272 (GRCm39)	I140V	possibly damaging	Het
Ppp6r3	C	A	19: 3,517,229 (GRCm39)	V75L	probably damaging	Het
Ptprq	T	A	10: 107,524,275 (GRCm39)	H486L	probably benign	Het
Rasgrf1	C	T	9: 89,877,056 (GRCm39)	T807M	probably benign	Het
Rasgrp3	C	A	17: 75,821,111 (GRCm39)	Y439*	probably null	Het
Rbm44	A	G	1: 91,081,050 (GRCm39)	T413A	probably benign	Het
Rnf135	T	C	11: 80,089,662 (GRCm39)	C333R	probably damaging	Het
Scfd2	A	G	5: 74,680,226 (GRCm39)	V309A	probably damaging	Het
Semp2l1	T	C	1: 32,585,701 (GRCm39)	S70G	probably benign	Het
Serpina3m	A	T	12: 104,355,908 (GRCm39)	K192*	probably null	Het
Sft2d1rt	A	G	11: 45,942,656 (GRCm39)	S156P	probably damaging	Het
Sh3tc2	A	G	18: 62,123,506 (GRCm39)	I756V	probably benign	Het
Slc27a4	T	C	2: 29,702,648 (GRCm39)	V516A	probably damaging	Het
Sult2a5	T	A	7: 13,359,188 (GRCm39)	C55S	probably benign	Het
Tars3	C	T	7: 65,341,042 (GRCm39)	T783M	probably benign	Het
Tet2	A	T	3: 133,172,805 (GRCm39)	I1819N	possibly damaging	Het
Timeless	T	C	10: 128,086,631 (GRCm39)	F1057L	probably damaging	Het
Ttn	T	A	2: 76,628,418 (GRCm39)	I12835F	probably damaging	Het
Uhrf1	T	A	17: 56,617,834 (GRCm39)	D185E	probably benign	Het
Vmn2r74	G	T	7: 85,605,199 (GRCm39)	S483*	probably null	Het
Xpo1	A	T	11: 23,231,327 (GRCm39)	I304F	possibly damaging	Het
Zc3h11a	A	G	1: 133,552,449 (GRCm39)	S553P	probably benign	Het
Zdhhc1	A	G	8: 106,199,484 (GRCm39)	S402P	probably benign	Het
Zwilch	T	C	9: 64,070,028 (GRCm39)	Y101C	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
IGL03240:Arg2	APN	12	79,178,605 (GRCm39)	splice site	probably null
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
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'- CCAGTAGACGTTGGAATGGC -3'
(R):5'- TGGATCCTACCAGTTCTCCAAC -3'

Sequencing Primer
(F):5'- TGGCACAAATGGTTCATTCTG -3'
(R):5'- GCCAGATGAACGTCTTAAGAACCTTG -3'

Posted On

2016-03-17