Incidental Mutation 'IGL02182:Adprh'
| ID |
283281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adprh
|
| Ensembl Gene |
ENSMUSG00000002844 |
| Gene Name |
ADP-ribosylarginine hydrolase |
| Synonyms |
Arh1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.611)
|
| Stock # |
IGL02182
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38265761-38273051 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38267838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 149
(H149R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002923]
|
| AlphaFold |
P54923 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002923
AA Change: H149R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: H149R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
11 |
331 |
1.1e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232145
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to the effects of cholera toxin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,104,790 (GRCm39) |
N285I |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,580,643 (GRCm39) |
V1853A |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,603,868 (GRCm39) |
V905A |
possibly damaging |
Het |
| Atp10b |
T |
G |
11: 43,139,774 (GRCm39) |
L1234R |
probably damaging |
Het |
| Bco1 |
G |
A |
8: 117,859,805 (GRCm39) |
A503T |
probably damaging |
Het |
| Clxn |
T |
A |
16: 14,738,659 (GRCm39) |
D163E |
probably damaging |
Het |
| Cpz |
T |
A |
5: 35,675,066 (GRCm39) |
Y61F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dtd2 |
A |
G |
12: 52,046,492 (GRCm39) |
S116P |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,768,581 (GRCm39) |
D1498G |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,944,695 (GRCm39) |
V1196A |
probably damaging |
Het |
| Gm15557 |
T |
C |
2: 155,783,737 (GRCm39) |
D405G |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,764,740 (GRCm39) |
V388E |
possibly damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,074,436 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,075 (GRCm39) |
T160A |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,775 (GRCm39) |
I274V |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,255,272 (GRCm39) |
D238E |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,946,988 (GRCm39) |
H9R |
probably benign |
Het |
| Ppp3cc |
A |
C |
14: 70,462,473 (GRCm39) |
V388G |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,321,582 (GRCm39) |
C2626* |
probably null |
Het |
| Resp18 |
T |
C |
1: 75,250,615 (GRCm39) |
T155A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scarb2 |
C |
T |
5: 92,601,913 (GRCm39) |
S327N |
probably damaging |
Het |
| Secisbp2l |
T |
A |
2: 125,589,497 (GRCm39) |
I684F |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,734,347 (GRCm39) |
D114G |
probably damaging |
Het |
| Smap1 |
T |
A |
1: 23,898,180 (GRCm39) |
E85D |
probably damaging |
Het |
| Tas2r121 |
T |
A |
6: 132,677,133 (GRCm39) |
I280F |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,016,609 (GRCm39) |
V86A |
probably benign |
Het |
| Vip |
A |
T |
10: 5,593,561 (GRCm39) |
Y91F |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp618 |
G |
A |
4: 63,013,798 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Adprh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Adprh
|
APN |
16 |
38,270,578 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02012:Adprh
|
APN |
16 |
38,266,214 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02862:Adprh
|
APN |
16 |
38,266,396 (GRCm39) |
missense |
probably benign |
|
|
IGL02884:Adprh
|
APN |
16 |
38,266,396 (GRCm39) |
missense |
probably benign |
|
|
IGL03065:Adprh
|
APN |
16 |
38,266,396 (GRCm39) |
missense |
probably benign |
|
|
R0829:Adprh
|
UTSW |
16 |
38,266,150 (GRCm39) |
missense |
probably benign |
|
|
R1164:Adprh
|
UTSW |
16 |
38,270,702 (GRCm39) |
missense |
probably benign |
|
|
R1542:Adprh
|
UTSW |
16 |
38,266,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4591:Adprh
|
UTSW |
16 |
38,266,345 (GRCm39) |
missense |
probably benign |
|
|
R4965:Adprh
|
UTSW |
16 |
38,266,142 (GRCm39) |
nonsense |
probably null |
|
|
R5271:Adprh
|
UTSW |
16 |
38,266,416 (GRCm39) |
nonsense |
probably null |
|
|
R5928:Adprh
|
UTSW |
16 |
38,267,746 (GRCm39) |
missense |
probably benign |
|
|
R6383:Adprh
|
UTSW |
16 |
38,267,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Adprh
|
UTSW |
16 |
38,270,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6526:Adprh
|
UTSW |
16 |
38,267,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6978:Adprh
|
UTSW |
16 |
38,266,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Adprh
|
UTSW |
16 |
38,270,694 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8437:Adprh
|
UTSW |
16 |
38,266,449 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8482:Adprh
|
UTSW |
16 |
38,267,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8846:Adprh
|
UTSW |
16 |
38,267,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation