Incidental Mutation 'R0879:Adprs'
ID |
81915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adprs
|
Ensembl Gene |
ENSMUSG00000042558 |
Gene Name |
ADP-ribosylserine hydrolase |
Synonyms |
Arh3, Adprhl2 |
MMRRC Submission |
039046-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0879 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126210144-126215496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 126210410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 357
(V357I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070132]
[ENSMUST00000102617]
|
AlphaFold |
Q8CG72 |
PDB Structure |
Crystal Structure of mouse ADP-ribosylhydrolase 3 (mARH3) [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070132
|
SMART Domains |
Protein: ENSMUSP00000070270 Gene: ENSMUSG00000056174
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
25 |
33 |
N/A |
INTRINSIC |
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
low complexity region
|
72 |
105 |
N/A |
INTRINSIC |
Pfam:Collagen
|
116 |
168 |
1.2e-9 |
PFAM |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
internal_repeat_1
|
240 |
259 |
1.3e-7 |
PROSPERO |
low complexity region
|
260 |
327 |
N/A |
INTRINSIC |
low complexity region
|
342 |
387 |
N/A |
INTRINSIC |
internal_repeat_1
|
388 |
407 |
1.3e-7 |
PROSPERO |
low complexity region
|
408 |
429 |
N/A |
INTRINSIC |
low complexity region
|
440 |
459 |
N/A |
INTRINSIC |
low complexity region
|
471 |
530 |
N/A |
INTRINSIC |
low complexity region
|
545 |
557 |
N/A |
INTRINSIC |
C1Q
|
564 |
699 |
2.44e-78 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102617
AA Change: V357I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099677 Gene: ENSMUSG00000042558 AA Change: V357I
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
Pfam:ADP_ribosyl_GH
|
31 |
344 |
1.5e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133068
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151191
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.3%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aagab |
T |
A |
9: 63,524,892 (GRCm39) |
|
probably benign |
Het |
Adm |
A |
G |
7: 110,227,559 (GRCm39) |
D25G |
possibly damaging |
Het |
Akap6 |
G |
T |
12: 52,927,582 (GRCm39) |
R164L |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,957,173 (GRCm39) |
N972S |
probably damaging |
Het |
Brd2 |
A |
T |
17: 34,332,420 (GRCm39) |
V232D |
probably benign |
Het |
C6 |
A |
G |
15: 4,792,818 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
A |
C |
7: 17,491,627 (GRCm39) |
I666L |
probably benign |
Het |
Col7a1 |
T |
C |
9: 108,805,159 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
C |
T |
11: 117,947,661 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,467,019 (GRCm39) |
V3615E |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
Enpp2 |
T |
C |
15: 54,741,326 (GRCm39) |
E324G |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,295,313 (GRCm39) |
V222A |
probably damaging |
Het |
Gm4076 |
A |
G |
13: 85,275,326 (GRCm39) |
|
noncoding transcript |
Het |
Gm4775 |
T |
C |
14: 106,338,227 (GRCm39) |
|
noncoding transcript |
Het |
Igsf9b |
T |
C |
9: 27,245,038 (GRCm39) |
S1002P |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,942,001 (GRCm39) |
S244P |
possibly damaging |
Het |
Klhl41 |
A |
T |
2: 69,513,827 (GRCm39) |
|
probably benign |
Het |
Ltbr |
A |
G |
6: 125,290,338 (GRCm39) |
|
probably benign |
Het |
Megf8 |
A |
G |
7: 25,037,896 (GRCm39) |
E804G |
possibly damaging |
Het |
Mybpc1 |
G |
A |
10: 88,407,378 (GRCm39) |
|
probably benign |
Het |
Npas4 |
T |
C |
19: 5,036,944 (GRCm39) |
R407G |
probably benign |
Het |
Oxnad1 |
T |
A |
14: 31,821,553 (GRCm39) |
Y213N |
probably damaging |
Het |
Pde6d |
A |
G |
1: 86,473,523 (GRCm39) |
F91S |
probably benign |
Het |
Pelp1 |
A |
G |
11: 70,286,123 (GRCm39) |
|
probably benign |
Het |
Plscr2 |
T |
C |
9: 92,169,846 (GRCm39) |
Y99H |
probably damaging |
Het |
Rft1 |
T |
C |
14: 30,404,705 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,860,588 (GRCm39) |
Y30C |
probably benign |
Het |
Selenbp2 |
A |
G |
3: 94,606,863 (GRCm39) |
T108A |
possibly damaging |
Het |
Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
Stra6 |
T |
C |
9: 58,042,487 (GRCm39) |
|
probably null |
Het |
Usp17le |
A |
T |
7: 104,418,854 (GRCm39) |
L96Q |
probably damaging |
Het |
Usp17le |
G |
T |
7: 104,418,855 (GRCm39) |
L96M |
possibly damaging |
Het |
Vmn1r76 |
A |
T |
7: 11,664,662 (GRCm39) |
I184N |
probably benign |
Het |
Vmn2r102 |
T |
C |
17: 19,914,454 (GRCm39) |
V673A |
probably damaging |
Het |
Wdr17 |
T |
G |
8: 55,114,516 (GRCm39) |
I667L |
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,811,218 (GRCm39) |
T609A |
probably benign |
Het |
Zfp821 |
T |
C |
8: 110,448,474 (GRCm39) |
I135T |
possibly damaging |
Het |
Zfp865 |
A |
G |
7: 5,034,342 (GRCm39) |
T776A |
probably benign |
Het |
Zp2 |
G |
T |
7: 119,734,757 (GRCm39) |
P477Q |
probably damaging |
Het |
|
Other mutations in Adprs |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01591:Adprs
|
APN |
4 |
126,212,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02391:Adprs
|
APN |
4 |
126,211,701 (GRCm39) |
splice site |
probably benign |
|
IGL03189:Adprs
|
APN |
4 |
126,211,087 (GRCm39) |
splice site |
probably benign |
|
R0139:Adprs
|
UTSW |
4 |
126,211,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R0302:Adprs
|
UTSW |
4 |
126,211,185 (GRCm39) |
missense |
probably benign |
0.00 |
R2008:Adprs
|
UTSW |
4 |
126,211,137 (GRCm39) |
missense |
probably benign |
0.05 |
R3789:Adprs
|
UTSW |
4 |
126,210,544 (GRCm39) |
missense |
probably damaging |
0.96 |
R5038:Adprs
|
UTSW |
4 |
126,211,102 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5058:Adprs
|
UTSW |
4 |
126,212,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R5724:Adprs
|
UTSW |
4 |
126,211,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R6171:Adprs
|
UTSW |
4 |
126,211,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Adprs
|
UTSW |
4 |
126,210,406 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7825:Adprs
|
UTSW |
4 |
126,215,489 (GRCm39) |
unclassified |
probably benign |
|
R8552:Adprs
|
UTSW |
4 |
126,210,368 (GRCm39) |
makesense |
probably null |
|
R9008:Adprs
|
UTSW |
4 |
126,210,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Adprs
|
UTSW |
4 |
126,215,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R9585:Adprs
|
UTSW |
4 |
126,211,786 (GRCm39) |
missense |
probably benign |
0.13 |
R9698:Adprs
|
UTSW |
4 |
126,210,514 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Adprs
|
UTSW |
4 |
126,215,454 (GRCm39) |
missense |
unknown |
|
Z1176:Adprs
|
UTSW |
4 |
126,215,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTCTCAAGATTCCAGCCCCAAG -3'
(R):5'- AGCAAGGTCAAGTTCCTGTGCC -3'
Sequencing Primer
(F):5'- TGAGTTGTCCTTGGTCCTGA -3'
(R):5'- TTCCCACAGGGAATGGCATTG -3'
|
Posted On |
2013-11-08 |