Incidental Mutation 'IGL03022:Parp2'
| ID |
408005 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Parp2
|
| Ensembl Gene |
ENSMUSG00000036023 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 2 |
| Synonyms |
Adprtl2, Aspartl2, Adprt2, C78626, PARP-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.419)
|
| Stock # |
IGL03022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51045347-51058758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51058553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 528
(Y528H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006444]
[ENSMUST00000036126]
[ENSMUST00000227810]
|
| AlphaFold |
O88554 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE CATALYTIC FRAGMENT OF MURINE POLY (ADP-RIBOSE) POLYMERASE-2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006444
|
| SMART Domains |
Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEP1_N
|
1 |
29 |
2.8e-20 |
PFAM |
|
Pfam:TEP1_N
|
31 |
59 |
1.4e-20 |
PFAM |
|
Pfam:TEP1_N
|
61 |
89 |
3.1e-20 |
PFAM |
|
Pfam:TEP1_N
|
91 |
119 |
3e-20 |
PFAM |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
229 |
N/A |
INTRINSIC |
|
Pfam:TROVE
|
230 |
685 |
3.2e-136 |
PFAM |
|
Pfam:DUF4062
|
909 |
1020 |
2.4e-22 |
PFAM |
|
Pfam:NACHT
|
1171 |
1346 |
9.2e-38 |
PFAM |
|
low complexity region
|
1393 |
1405 |
N/A |
INTRINSIC |
|
low complexity region
|
1622 |
1641 |
N/A |
INTRINSIC |
|
WD40
|
1673 |
1711 |
2.98e-1 |
SMART |
|
WD40
|
1714 |
1752 |
5.33e0 |
SMART |
|
WD40
|
1755 |
1794 |
1.52e-4 |
SMART |
|
WD40
|
1797 |
1835 |
3.27e-4 |
SMART |
|
WD40
|
1838 |
1877 |
3.09e-1 |
SMART |
|
WD40
|
1880 |
1919 |
2.24e-2 |
SMART |
|
WD40
|
1925 |
1962 |
4.95e0 |
SMART |
|
WD40
|
1968 |
2003 |
2.29e1 |
SMART |
|
WD40
|
2008 |
2045 |
1.72e0 |
SMART |
|
WD40
|
2058 |
2097 |
3.89e-11 |
SMART |
|
WD40
|
2103 |
2142 |
3.93e-7 |
SMART |
|
WD40
|
2145 |
2182 |
4.38e-5 |
SMART |
|
WD40
|
2184 |
2232 |
1.24e0 |
SMART |
|
WD40
|
2235 |
2273 |
1.14e-3 |
SMART |
|
WD40
|
2275 |
2315 |
4.46e-1 |
SMART |
|
Blast:WD40
|
2316 |
2353 |
4e-12 |
BLAST |
|
WD40
|
2546 |
2583 |
6.79e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036126
AA Change: Y528H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: Y528H
| Domain | Start | End | E-Value | Type |
|---|
|
WGR
|
95 |
175 |
1.17e-35 |
SMART |
|
Pfam:PARP_reg
|
208 |
338 |
1.4e-49 |
PFAM |
|
Pfam:PARP
|
341 |
553 |
1.8e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226880
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228833
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals are sensitive to gamma radiation. Epithelial crypt degeneration and DNA repair deficiency is apparent following radiation-induced injury. [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 |
|---|
| Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
| Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
| H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
| Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
| Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
| Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
| Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
| Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
| Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
| Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
| Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Parp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02826:Parp2
|
APN |
14 |
51,052,872 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03051:Parp2
|
APN |
14 |
51,056,805 (GRCm39) |
splice site |
probably benign |
|
|
R0110:Parp2
|
UTSW |
14 |
51,057,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Parp2
|
UTSW |
14 |
51,057,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Parp2
|
UTSW |
14 |
51,057,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Parp2
|
UTSW |
14 |
51,056,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1590:Parp2
|
UTSW |
14 |
51,048,001 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1668:Parp2
|
UTSW |
14 |
51,058,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1806:Parp2
|
UTSW |
14 |
51,056,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1846:Parp2
|
UTSW |
14 |
51,052,843 (GRCm39) |
nonsense |
probably null |
|
|
R2029:Parp2
|
UTSW |
14 |
51,047,543 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2990:Parp2
|
UTSW |
14 |
51,054,457 (GRCm39) |
missense |
probably benign |
|
|
R3933:Parp2
|
UTSW |
14 |
51,056,844 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4921:Parp2
|
UTSW |
14 |
51,056,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6406:Parp2
|
UTSW |
14 |
51,056,934 (GRCm39) |
missense |
probably benign |
|
|
R6799:Parp2
|
UTSW |
14 |
51,058,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7105:Parp2
|
UTSW |
14 |
51,047,521 (GRCm39) |
frame shift |
probably null |
|
|
R7250:Parp2
|
UTSW |
14 |
51,054,801 (GRCm39) |
missense |
probably benign |
|
|
R7606:Parp2
|
UTSW |
14 |
51,057,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8040:Parp2
|
UTSW |
14 |
51,047,630 (GRCm39) |
missense |
probably benign |
|
|
R8523:Parp2
|
UTSW |
14 |
51,057,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9089:Parp2
|
UTSW |
14 |
51,052,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9203:Parp2
|
UTSW |
14 |
51,056,850 (GRCm39) |
missense |
probably benign |
0.32 |
|
RF002:Parp2
|
UTSW |
14 |
51,054,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Parp2
|
UTSW |
14 |
51,054,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation