Incidental Mutation 'IGL03051:Parp2'
| ID |
409074 |
| 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 # |
IGL03051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51045347-51058758 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 51056805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006444]
[ENSMUST00000036126]
[ENSMUST00000227810]
|
| AlphaFold |
O88554 |
| 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 benign
Transcript: ENSMUST00000036126
|
| SMART Domains |
Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
| 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: ENSMUST00000228672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228872
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
| Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,472,896 (GRCm39) |
Q87R |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
| Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
| Clec4e |
A |
G |
6: 123,266,692 (GRCm39) |
S6P |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
| Gpa33 |
A |
G |
1: 165,992,790 (GRCm39) |
H301R |
probably benign |
Het |
| Gpr39 |
T |
A |
1: 125,605,485 (GRCm39) |
C138S |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
| Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
| Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
| Mpz |
G |
A |
1: 170,986,380 (GRCm39) |
R98H |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
| Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
| Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
| Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,615,528 (GRCm39) |
N486S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,875 (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 |
|
IGL03022:Parp2
|
APN |
14 |
51,058,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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