Incidental Mutation 'R3430:Parp3'
ID |
268075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parp3
|
Ensembl Gene |
ENSMUSG00000023249 |
Gene Name |
poly (ADP-ribose) polymerase family, member 3 |
Synonyms |
A930002C11Rik, PARP-3, Adprt3, Adprtl3 |
MMRRC Submission |
040648-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3430 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106347521-106354148 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106351922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 150
(I150K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047721]
[ENSMUST00000067218]
[ENSMUST00000112479]
[ENSMUST00000123555]
[ENSMUST00000125850]
[ENSMUST00000156426]
[ENSMUST00000214682]
|
AlphaFold |
Q3ULW8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047721
|
SMART Domains |
Protein: ENSMUSP00000038580 Gene: ENSMUSG00000041506
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
low complexity region
|
47 |
57 |
N/A |
INTRINSIC |
coiled coil region
|
61 |
102 |
N/A |
INTRINSIC |
WD40
|
135 |
174 |
1.15e-4 |
SMART |
WD40
|
177 |
227 |
3.09e-5 |
SMART |
WD40
|
230 |
269 |
2.42e-7 |
SMART |
WD40
|
272 |
311 |
9.24e-4 |
SMART |
WD40
|
313 |
351 |
2.4e-2 |
SMART |
WD40
|
354 |
404 |
4.6e0 |
SMART |
Blast:WD40
|
412 |
451 |
1e-15 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067218
AA Change: I150K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000064513 Gene: ENSMUSG00000023249 AA Change: I150K
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
Pfam:PARP_reg
|
176 |
315 |
8.7e-39 |
PFAM |
Pfam:PARP
|
317 |
528 |
7.1e-62 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112479
AA Change: I150K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108098 Gene: ENSMUSG00000023249 AA Change: I150K
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
Pfam:PARP_reg
|
182 |
319 |
1.3e-42 |
PFAM |
Pfam:PARP
|
322 |
533 |
7.3e-62 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123464
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123555
AA Change: I150K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123054 Gene: ENSMUSG00000023249 AA Change: I150K
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
Pfam:PARP_reg
|
176 |
315 |
8.7e-39 |
PFAM |
Pfam:PARP
|
317 |
528 |
7.1e-62 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125630
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125850
AA Change: I150K
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000119244 Gene: ENSMUSG00000023249 AA Change: I150K
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145396
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156426
AA Change: I150K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117329 Gene: ENSMUSG00000023249 AA Change: I150K
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
PDB:4L7U|A
|
179 |
202 |
6e-7 |
PDB |
SCOP:d1a26_1
|
182 |
202 |
5e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139362
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214682
AA Change: I150K
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217303
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (67/67) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal survival. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,984,322 (GRCm39) |
I1869V |
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,984,111 (GRCm39) |
L777P |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,552,322 (GRCm39) |
|
probably benign |
Het |
Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
Bpifa6 |
A |
G |
2: 153,831,171 (GRCm39) |
I246V |
probably benign |
Het |
Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
Ccdc88a |
T |
A |
11: 29,398,033 (GRCm39) |
D255E |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,844,517 (GRCm39) |
V1542A |
probably damaging |
Het |
Cimip1 |
T |
C |
2: 173,370,066 (GRCm39) |
Y114H |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,655,078 (GRCm39) |
L1145* |
probably null |
Het |
Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,384,745 (GRCm39) |
N94I |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
Grin3a |
C |
A |
4: 49,792,534 (GRCm39) |
V400L |
probably benign |
Het |
Htr3a |
T |
C |
9: 48,818,688 (GRCm39) |
N82S |
probably benign |
Het |
Il23r |
A |
C |
6: 67,429,458 (GRCm39) |
S295A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,838,110 (GRCm39) |
K869E |
probably benign |
Het |
Lce1d |
A |
T |
3: 92,593,037 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
T |
C |
2: 181,339,324 (GRCm39) |
D42G |
probably benign |
Het |
Mapk8ip2 |
A |
G |
15: 89,341,485 (GRCm39) |
E232G |
possibly damaging |
Het |
Marf1 |
A |
G |
16: 13,958,041 (GRCm39) |
|
probably benign |
Het |
Mpeg1 |
A |
T |
19: 12,440,492 (GRCm39) |
H650L |
probably benign |
Het |
Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,365 (GRCm39) |
S263T |
probably damaging |
Het |
Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
Or4e5 |
A |
G |
14: 52,727,882 (GRCm39) |
F180L |
possibly damaging |
Het |
Or8b3b |
A |
T |
9: 38,584,435 (GRCm39) |
F102I |
probably damaging |
Het |
Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
P2ry12 |
C |
T |
3: 59,125,448 (GRCm39) |
D76N |
probably damaging |
Het |
Prex2 |
T |
G |
1: 11,220,078 (GRCm39) |
I683S |
possibly damaging |
Het |
Prss34 |
A |
T |
17: 25,518,078 (GRCm39) |
K86I |
probably benign |
Het |
Ptpn20 |
T |
A |
14: 33,336,485 (GRCm39) |
V108D |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
Rsad2 |
T |
C |
12: 26,506,418 (GRCm39) |
M1V |
probably null |
Het |
S1pr5 |
A |
G |
9: 21,156,378 (GRCm39) |
V16A |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
Serpinb3b |
A |
T |
1: 107,082,425 (GRCm39) |
S280T |
probably benign |
Het |
Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
Sh3yl1 |
T |
C |
12: 31,009,841 (GRCm39) |
S253P |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,169,686 (GRCm39) |
I14T |
possibly damaging |
Het |
Supt16 |
A |
T |
14: 52,412,816 (GRCm39) |
M559K |
probably benign |
Het |
Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,107,156 (GRCm39) |
K467E |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,847,902 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,283,437 (GRCm39) |
F706S |
probably benign |
Het |
Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r85 |
T |
A |
10: 130,254,758 (GRCm39) |
H642L |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,246,428 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Parp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Parp3
|
APN |
9 |
106,348,586 (GRCm39) |
missense |
probably benign |
|
IGL00827:Parp3
|
APN |
9 |
106,351,605 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02683:Parp3
|
APN |
9 |
106,350,384 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0050:Parp3
|
UTSW |
9 |
106,348,600 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0110:Parp3
|
UTSW |
9 |
106,348,995 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0320:Parp3
|
UTSW |
9 |
106,353,011 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0510:Parp3
|
UTSW |
9 |
106,348,995 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0989:Parp3
|
UTSW |
9 |
106,350,281 (GRCm39) |
splice site |
probably null |
|
R1170:Parp3
|
UTSW |
9 |
106,353,204 (GRCm39) |
intron |
probably benign |
|
R1919:Parp3
|
UTSW |
9 |
106,352,316 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1935:Parp3
|
UTSW |
9 |
106,351,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R1936:Parp3
|
UTSW |
9 |
106,351,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Parp3
|
UTSW |
9 |
106,352,021 (GRCm39) |
splice site |
probably null |
|
R2188:Parp3
|
UTSW |
9 |
106,353,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R2919:Parp3
|
UTSW |
9 |
106,350,924 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3014:Parp3
|
UTSW |
9 |
106,348,514 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3429:Parp3
|
UTSW |
9 |
106,351,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R3618:Parp3
|
UTSW |
9 |
106,352,262 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3980:Parp3
|
UTSW |
9 |
106,351,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Parp3
|
UTSW |
9 |
106,350,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R5617:Parp3
|
UTSW |
9 |
106,351,704 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6015:Parp3
|
UTSW |
9 |
106,351,481 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6591:Parp3
|
UTSW |
9 |
106,350,891 (GRCm39) |
missense |
probably benign |
|
R6691:Parp3
|
UTSW |
9 |
106,350,891 (GRCm39) |
missense |
probably benign |
|
R7403:Parp3
|
UTSW |
9 |
106,352,052 (GRCm39) |
missense |
probably benign |
0.35 |
R7612:Parp3
|
UTSW |
9 |
106,351,393 (GRCm39) |
missense |
probably benign |
0.03 |
R8330:Parp3
|
UTSW |
9 |
106,352,069 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8396:Parp3
|
UTSW |
9 |
106,351,447 (GRCm39) |
missense |
probably benign |
0.00 |
R8733:Parp3
|
UTSW |
9 |
106,353,150 (GRCm39) |
missense |
probably benign |
0.01 |
R9023:Parp3
|
UTSW |
9 |
106,348,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Parp3
|
UTSW |
9 |
106,350,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACACCTGGGGAGATAAGGC -3'
(R):5'- AAAGAGCTGGCTTCGTCTG -3'
Sequencing Primer
(F):5'- TGGGGAGATAAGGCCTGCTC -3'
(R):5'- AATCTTGCTGGTGGACACAC -3'
|
Posted On |
2015-02-18 |