Incidental Mutation 'R2188:Parp3'
ID |
237929 |
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 |
040190-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2188 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
106347521-106354148 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106353051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 42
(R42W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047721]
[ENSMUST00000067218]
[ENSMUST00000112479]
[ENSMUST00000123555]
[ENSMUST00000156426]
[ENSMUST00000125850]
[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: R42W
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000064513 Gene: ENSMUSG00000023249 AA Change: R42W
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: R42W
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108098 Gene: ENSMUSG00000023249 AA Change: R42W
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: R42W
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123054 Gene: ENSMUSG00000023249 AA Change: R42W
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 |
probably damaging
Transcript: ENSMUST00000156426
AA Change: R42W
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117329 Gene: ENSMUSG00000023249 AA Change: R42W
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 |
probably damaging
Transcript: ENSMUST00000125850
AA Change: R42W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119244 Gene: ENSMUSG00000023249 AA Change: R42W
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156796
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145396
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214682
AA Change: R42W
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217303
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,838,367 (GRCm39) |
L547P |
probably damaging |
Het |
Arhgap29 |
A |
C |
3: 121,784,658 (GRCm39) |
D195A |
probably damaging |
Het |
Atad3a |
A |
T |
4: 155,835,976 (GRCm39) |
I274N |
probably damaging |
Het |
Ccdc12 |
G |
T |
9: 110,485,699 (GRCm39) |
K23N |
possibly damaging |
Het |
Ccpg1 |
A |
G |
9: 72,920,388 (GRCm39) |
T668A |
probably benign |
Het |
Cdc34b |
T |
C |
11: 94,632,998 (GRCm39) |
I66T |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,001,121 (GRCm39) |
I2408T |
probably damaging |
Het |
Fam91a1 |
A |
C |
15: 58,302,512 (GRCm39) |
N284T |
probably damaging |
Het |
Gbp2b |
A |
T |
3: 142,314,040 (GRCm39) |
E440V |
probably benign |
Het |
Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,309,947 (GRCm39) |
A3238T |
probably benign |
Het |
Hmg20a |
A |
G |
9: 56,384,584 (GRCm39) |
E118G |
possibly damaging |
Het |
Itprid2 |
T |
C |
2: 79,475,267 (GRCm39) |
S409P |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,383,601 (GRCm39) |
F781I |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,737,181 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,298,971 (GRCm39) |
T857A |
probably benign |
Het |
Mucl2 |
T |
A |
15: 103,927,840 (GRCm39) |
N39I |
probably damaging |
Het |
Myl6 |
A |
G |
10: 128,328,566 (GRCm39) |
I27T |
possibly damaging |
Het |
Ndor1 |
A |
T |
2: 25,141,765 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
A |
G |
7: 26,264,354 (GRCm39) |
E758G |
probably damaging |
Het |
Or52h7 |
G |
A |
7: 104,213,883 (GRCm39) |
A152T |
probably benign |
Het |
Or8u8 |
A |
T |
2: 86,011,780 (GRCm39) |
I225N |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,798,600 (GRCm39) |
I495V |
probably damaging |
Het |
Qrfprl |
C |
A |
6: 65,418,260 (GRCm39) |
H143N |
probably damaging |
Het |
Sdsl |
C |
T |
5: 120,596,485 (GRCm39) |
G310S |
probably damaging |
Het |
Sec24a |
A |
G |
11: 51,614,411 (GRCm39) |
L531P |
probably damaging |
Het |
Slc2a12 |
C |
T |
10: 22,540,736 (GRCm39) |
S197F |
probably benign |
Het |
Snapc1 |
T |
A |
12: 74,017,001 (GRCm39) |
I213N |
probably damaging |
Het |
Srpk1 |
A |
T |
17: 28,813,163 (GRCm39) |
I527N |
probably damaging |
Het |
Steap2 |
G |
T |
5: 5,723,643 (GRCm39) |
Y412* |
probably null |
Het |
Tbk1 |
A |
C |
10: 121,399,836 (GRCm39) |
Y329* |
probably null |
Het |
Tekt5 |
T |
C |
16: 10,176,189 (GRCm39) |
E452G |
probably damaging |
Het |
Tmc5 |
G |
T |
7: 118,254,178 (GRCm39) |
C672F |
probably damaging |
Het |
Trim27 |
T |
C |
13: 21,367,987 (GRCm39) |
L201S |
probably damaging |
Het |
Vil1 |
A |
C |
1: 74,466,724 (GRCm39) |
D638A |
probably benign |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Zfp583 |
C |
T |
7: 6,320,610 (GRCm39) |
R134H |
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 |
|
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 |
R3430: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'- GCAATCCCTGGCTAGAACAG -3'
(R):5'- AGGGCAAATCTGAACGCTCC -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAATGAGTTCCAGG -3'
(R):5'- AAATCTGAACGCTCCCTACCTCTTG -3'
|
Posted On |
2014-10-02 |