Incidental Mutation 'IGL01546:Arg2'
ID |
90352 |
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)
|
Stock # |
IGL01546
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
79177562-79203075 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 79196633 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 benign
Transcript: ENSMUST00000021550
|
SMART Domains |
Protein: ENSMUSP00000021550 Gene: ENSMUSG00000021125
Domain | Start | End | E-Value | Type |
Pfam:Arginase
|
24 |
324 |
7.4e-80 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218917
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amdhd2 |
C |
A |
17: 24,382,574 (GRCm39) |
R22L |
probably benign |
Het |
Catip |
T |
C |
1: 74,401,954 (GRCm39) |
L43P |
probably damaging |
Het |
Ccdc30 |
A |
C |
4: 119,255,385 (GRCm39) |
L123R |
probably damaging |
Het |
Cep89 |
T |
C |
7: 35,120,325 (GRCm39) |
L369P |
probably damaging |
Het |
Dolpp1 |
T |
C |
2: 30,287,107 (GRCm39) |
F180L |
probably damaging |
Het |
Kctd19 |
T |
C |
8: 106,113,594 (GRCm39) |
H670R |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,903,068 (GRCm39) |
I315N |
probably benign |
Het |
Mfsd4b2 |
A |
T |
10: 39,797,471 (GRCm39) |
W295R |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,631,627 (GRCm39) |
T116A |
probably damaging |
Het |
Mn1 |
A |
T |
5: 111,569,114 (GRCm39) |
D1028V |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,832,020 (GRCm39) |
G316D |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,738 (GRCm39) |
S67P |
probably damaging |
Het |
Or52b1 |
T |
C |
7: 104,978,899 (GRCm39) |
R167G |
probably damaging |
Het |
Or52j3 |
A |
T |
7: 102,836,617 (GRCm39) |
I270F |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,129 (GRCm39) |
S239P |
probably damaging |
Het |
Or7g27 |
T |
G |
9: 19,250,068 (GRCm39) |
V104G |
possibly damaging |
Het |
Phc3 |
C |
A |
3: 31,015,888 (GRCm39) |
A108S |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,429,712 (GRCm39) |
Y3310C |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,159,488 (GRCm39) |
|
probably null |
Het |
Slx4ip |
A |
G |
2: 136,908,119 (GRCm39) |
T159A |
probably benign |
Het |
Sos1 |
T |
A |
17: 80,716,040 (GRCm39) |
Y974F |
probably damaging |
Het |
Spaca7b |
T |
A |
8: 11,706,136 (GRCm39) |
M133L |
probably benign |
Het |
Taar8a |
A |
T |
10: 23,952,813 (GRCm39) |
Y139F |
possibly damaging |
Het |
Vcam1 |
A |
G |
3: 115,909,591 (GRCm39) |
C579R |
possibly damaging |
Het |
Zdhhc17 |
C |
T |
10: 110,782,054 (GRCm39) |
V547M |
probably damaging |
Het |
|
Other mutations in Arg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-12-03 |