Incidental Mutation 'R3933:Parp2'
| ID |
308570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp2
|
| Ensembl Gene |
ENSMUSG00000036023 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 2 |
| Synonyms |
Adprtl2, Aspartl2, Adprt2, C78626, PARP-2 |
| MMRRC Submission |
040920-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R3933 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51045347-51058758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 51056844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 323
(V323M)
|
| 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 benign
Transcript: ENSMUST00000036126
AA Change: V323M
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: V323M
| 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: ENSMUST00000228833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228672
|
| Meta Mutation Damage Score |
0.2280 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
96% (43/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,304,856 (GRCm39) |
F3350L |
probably damaging |
Het |
| Acp6 |
T |
C |
3: 97,073,499 (GRCm39) |
V146A |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,680,749 (GRCm39) |
I630V |
probably benign |
Het |
| Astn2 |
G |
A |
4: 66,322,192 (GRCm39) |
R136C |
unknown |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| C1rl |
T |
A |
6: 124,485,781 (GRCm39) |
L384* |
probably null |
Het |
| Ccdc6 |
TCCGCCGCCGCC |
TCCGCCGCC |
10: 70,025,000 (GRCm39) |
|
probably benign |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,207,016 (GRCm39) |
M643K |
probably benign |
Het |
| Fut8 |
A |
C |
12: 77,522,033 (GRCm39) |
K557N |
probably damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,597,274 (GRCm39) |
Y88H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Lepr |
T |
C |
4: 101,622,498 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,566 (GRCm39) |
|
probably null |
Het |
| Mei1 |
A |
G |
15: 81,967,353 (GRCm39) |
K310E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,292,601 (GRCm39) |
V438A |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,300 (GRCm39) |
Y232H |
probably damaging |
Het |
| Or5aq6 |
T |
A |
2: 86,923,106 (GRCm39) |
I212F |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,979,314 (GRCm39) |
S161P |
probably benign |
Het |
| Pold3 |
T |
C |
7: 99,770,608 (GRCm39) |
E8G |
probably damaging |
Het |
| Pomt1 |
G |
A |
2: 32,135,631 (GRCm39) |
V332I |
probably benign |
Het |
| Ppp2ca |
T |
A |
11: 52,010,089 (GRCm39) |
N232K |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,101,318 (GRCm39) |
D2274V |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,835,950 (GRCm39) |
V464I |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Scai |
A |
T |
2: 38,965,064 (GRCm39) |
D593E |
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 87,094,422 (GRCm39) |
T366A |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,608,830 (GRCm39) |
I320V |
probably benign |
Het |
| Syngr2 |
C |
A |
11: 117,704,243 (GRCm39) |
P206Q |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,778,521 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,201,260 (GRCm39) |
A415T |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,435 (GRCm39) |
M258V |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,576,872 (GRCm39) |
R561C |
probably damaging |
Het |
| Yju2b |
G |
A |
8: 84,986,981 (GRCm39) |
A172V |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGCTCACTGTGCTTGTATC -3'
(R):5'- AAGCTGGCAGAACTTTCCGTC -3'
Sequencing Primer
(F):5'- GTGCTTGTATCTCTGTCCTTAGAC -3'
(R):5'- GCAGAACTTTCCGTCCCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation