Incidental Mutation 'R0450:Parp2'
| ID |
39634 |
| 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 |
038650-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R0450 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51045347-51058758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51057130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 361
(Y361N)
|
| 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: Y361N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: Y361N
| 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
|
| Meta Mutation Damage Score |
0.8732 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 94.2%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
G |
A |
2: 127,722,423 (GRCm39) |
|
probably null |
Het |
| AI606181 |
A |
C |
19: 41,582,170 (GRCm39) |
K113N |
unknown |
Het |
| Ankrd11 |
T |
C |
8: 123,618,914 (GRCm39) |
D1646G |
possibly damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,360,990 (GRCm39) |
I334N |
possibly damaging |
Het |
| Arih2 |
T |
A |
9: 108,482,291 (GRCm39) |
H490L |
possibly damaging |
Het |
| Ccdc168 |
T |
A |
1: 44,100,257 (GRCm39) |
K280N |
possibly damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,802,633 (GRCm39) |
Y610C |
probably damaging |
Het |
| Cdkal1 |
C |
A |
13: 29,875,579 (GRCm39) |
|
probably null |
Het |
| Cep76 |
A |
T |
18: 67,767,850 (GRCm39) |
N227K |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,619,112 (GRCm39) |
Y676N |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,255,797 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
T |
9: 105,957,746 (GRCm39) |
V26D |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,537 (GRCm39) |
V446A |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,606,378 (GRCm39) |
Q2483K |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,652,679 (GRCm39) |
D759E |
probably damaging |
Het |
| Etfbkmt |
C |
T |
6: 149,052,082 (GRCm39) |
R96W |
probably benign |
Het |
| Fam83a |
C |
A |
15: 57,873,322 (GRCm39) |
Q384K |
probably benign |
Het |
| Glipr1l2 |
A |
G |
10: 111,928,477 (GRCm39) |
D124G |
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,126,402 (GRCm39) |
D326G |
probably benign |
Het |
| Hnrnph3 |
T |
A |
10: 62,853,994 (GRCm39) |
R41S |
probably benign |
Het |
| Hnrnph3 |
T |
A |
10: 62,855,279 (GRCm39) |
D2V |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,319,477 (GRCm39) |
T188A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,377,608 (GRCm39) |
I133L |
probably damaging |
Het |
| Krt74 |
T |
C |
15: 101,671,751 (GRCm39) |
|
noncoding transcript |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,136,255 (GRCm39) |
H2357L |
probably benign |
Het |
| Mbl1 |
A |
G |
14: 40,880,706 (GRCm39) |
N198S |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,047,337 (GRCm39) |
D233G |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,517,700 (GRCm39) |
K45E |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,738,619 (GRCm39) |
N3524S |
probably benign |
Het |
| Mospd3 |
A |
G |
5: 137,595,294 (GRCm39) |
L233P |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
| Or4a39 |
A |
T |
2: 89,237,135 (GRCm39) |
M96K |
probably damaging |
Het |
| Or5p5 |
T |
C |
7: 107,413,895 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or5w15 |
A |
G |
2: 87,567,825 (GRCm39) |
V281A |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,561 (GRCm39) |
Y102C |
probably benign |
Het |
| Or8g27 |
G |
A |
9: 39,129,024 (GRCm39) |
V124I |
possibly damaging |
Het |
| Pcf11 |
G |
A |
7: 92,307,039 (GRCm39) |
P1043L |
probably damaging |
Het |
| Phf24 |
G |
T |
4: 42,933,761 (GRCm39) |
V48L |
possibly damaging |
Het |
| Pkn1 |
C |
A |
8: 84,398,953 (GRCm39) |
C678F |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,915,010 (GRCm39) |
L673P |
probably damaging |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,617 (GRCm39) |
F51Y |
possibly damaging |
Het |
| Rem2 |
T |
C |
14: 54,713,754 (GRCm39) |
|
probably benign |
Het |
| Smpdl3b |
A |
G |
4: 132,472,449 (GRCm39) |
V108A |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,781 (GRCm39) |
T101A |
probably benign |
Het |
| Stk11 |
T |
C |
10: 79,961,920 (GRCm39) |
V47A |
probably damaging |
Het |
| Tmpo |
A |
C |
10: 90,998,958 (GRCm39) |
I276M |
probably benign |
Het |
| Trim55 |
G |
T |
3: 19,725,256 (GRCm39) |
V258L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,560,756 (GRCm39) |
V29215A |
probably damaging |
Het |
| Ubr4 |
T |
G |
4: 139,157,534 (GRCm39) |
S2364A |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,045,329 (GRCm39) |
|
probably null |
Het |
| Upb1 |
T |
C |
10: 75,250,917 (GRCm39) |
|
probably null |
Het |
| Usp47 |
T |
C |
7: 111,655,787 (GRCm39) |
S155P |
possibly damaging |
Het |
| Zfp628 |
A |
T |
7: 4,922,732 (GRCm39) |
Q318L |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,739,253 (GRCm39) |
V1004E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTTAAACTGGTGAAGTCAGAGC -3'
(R):5'- ATGCCAGAGCAGCATCCTAAGAAAG -3'
Sequencing Primer
(F):5'- GTCCTCTGGACCATGAAAGTAATG -3'
(R):5'- CCTAAGAAAGAGCCATTAGTTTCCTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation