Incidental Mutation 'IGL01680:Adprh'
| ID |
103775 |
| 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 # |
IGL01680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38265761-38273051 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38270578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 76
(G76S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002923]
|
| AlphaFold |
P54923 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002923
AA Change: G76S
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002923
Gene: ENSMUSG00000002844
AA Change: G76S
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,709,620 (GRCm39) |
W121R |
unknown |
Het |
| Arhgap31 |
T |
C |
16: 38,423,976 (GRCm39) |
T697A |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,680,705 (GRCm39) |
M489T |
probably benign |
Het |
| Clec5a |
A |
G |
6: 40,561,314 (GRCm39) |
Y44H |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,833,426 (GRCm39) |
H950R |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,805,972 (GRCm39) |
T86A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,766,210 (GRCm39) |
P784T |
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,008,293 (GRCm39) |
D463G |
possibly damaging |
Het |
| Eif4a2 |
C |
A |
16: 22,927,941 (GRCm39) |
Q94K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,055,956 (GRCm39) |
L1710P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,808,988 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,137 (GRCm39) |
|
probably null |
Het |
| Gga2 |
G |
T |
7: 121,597,299 (GRCm39) |
D363E |
probably benign |
Het |
| Glis2 |
T |
A |
16: 4,429,195 (GRCm39) |
F133I |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,333 (GRCm39) |
D94G |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,839,096 (GRCm39) |
D319G |
probably benign |
Het |
| Lbr |
C |
A |
1: 181,663,759 (GRCm39) |
R87L |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,513 (GRCm39) |
T715A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,944,820 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
A |
C |
1: 59,169,226 (GRCm39) |
C341W |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,875,551 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,322,630 (GRCm39) |
V20A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,249 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,436 (GRCm39) |
C171* |
probably null |
Het |
| Or7c19 |
A |
T |
8: 85,957,308 (GRCm39) |
L61F |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,099,127 (GRCm39) |
R186W |
probably damaging |
Het |
| Ppp1r1b |
T |
A |
11: 98,241,392 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,218,218 (GRCm39) |
I166V |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,637,928 (GRCm39) |
T375A |
probably benign |
Het |
| Slitrk5 |
C |
A |
14: 111,916,432 (GRCm39) |
H19N |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,677,456 (GRCm39) |
Q126L |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,163,996 (GRCm39) |
V105A |
probably damaging |
Het |
| Stt3b |
C |
A |
9: 115,075,329 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,913,488 (GRCm39) |
E144G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,498,937 (GRCm39) |
Y49H |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,586 (GRCm39) |
W160* |
probably null |
Het |
| Zfp647 |
T |
A |
15: 76,801,968 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Adprh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02012:Adprh
|
APN |
16 |
38,266,214 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02182:Adprh
|
APN |
16 |
38,267,838 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation