Incidental Mutation 'R2919:Parp3'
ID |
255431 |
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 |
040504-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2919 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106347521-106354148 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106350924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 323
(R323W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108098
(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 |
possibly damaging
Transcript: ENSMUST00000067218
AA Change: R318W
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000064513 Gene: ENSMUSG00000023249 AA Change: R318W
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 |
possibly damaging
Transcript: ENSMUST00000112479
AA Change: R323W
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108098 Gene: ENSMUSG00000023249 AA Change: R323W
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 |
possibly damaging
Transcript: ENSMUST00000123555
AA Change: R318W
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123054 Gene: ENSMUSG00000023249 AA Change: R318W
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 benign
Transcript: ENSMUST00000125850
|
SMART Domains |
Protein: ENSMUSP00000119244 Gene: ENSMUSG00000023249
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145396
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156426
|
SMART Domains |
Protein: ENSMUSP00000117329 Gene: ENSMUSG00000023249
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 benign
Transcript: ENSMUST00000214682
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (53/54) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
C |
T |
5: 146,122,001 (GRCm39) |
R27H |
probably benign |
Het |
2310002L09Rik |
A |
T |
4: 73,868,845 (GRCm39) |
L31Q |
probably damaging |
Het |
Agbl1 |
G |
A |
7: 76,064,406 (GRCm39) |
D53N |
probably damaging |
Het |
Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
Als2cl |
A |
T |
9: 110,726,567 (GRCm39) |
|
probably null |
Het |
Atg9b |
T |
A |
5: 24,596,542 (GRCm39) |
T125S |
possibly damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,645,343 (GRCm39) |
D1472G |
probably damaging |
Het |
Cd1d2 |
C |
G |
3: 86,894,987 (GRCm39) |
P158A |
probably damaging |
Het |
Cdc45 |
A |
G |
16: 18,627,543 (GRCm39) |
I94T |
probably benign |
Het |
Chd6 |
T |
G |
2: 160,809,800 (GRCm39) |
D1487A |
possibly damaging |
Het |
Edem2 |
T |
C |
2: 155,550,947 (GRCm39) |
Y340C |
probably damaging |
Het |
Fbxl12 |
C |
T |
9: 20,553,509 (GRCm39) |
R26H |
probably damaging |
Het |
Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,021 (GRCm39) |
|
noncoding transcript |
Het |
Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
Inpp4b |
C |
A |
8: 82,711,958 (GRCm39) |
A425E |
possibly damaging |
Het |
Kif1a |
A |
G |
1: 92,974,464 (GRCm39) |
Y964H |
probably damaging |
Het |
Lrp1b |
A |
C |
2: 41,660,911 (GRCm39) |
C66G |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,321,075 (GRCm39) |
I1034V |
probably benign |
Het |
Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
Mmrn2 |
T |
C |
14: 34,124,879 (GRCm39) |
V820A |
possibly damaging |
Het |
Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
Mroh9 |
A |
C |
1: 162,884,341 (GRCm39) |
M399R |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
N4bp2 |
G |
A |
5: 65,964,441 (GRCm39) |
G830D |
probably benign |
Het |
Nagpa |
G |
A |
16: 5,021,651 (GRCm39) |
|
probably benign |
Het |
Or52b1 |
C |
T |
7: 104,979,067 (GRCm39) |
V111M |
probably damaging |
Het |
Or5g23 |
G |
A |
2: 85,438,754 (GRCm39) |
P167S |
probably benign |
Het |
Oxgr1 |
T |
A |
14: 120,260,221 (GRCm39) |
|
probably benign |
Het |
Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
Pfkp |
C |
T |
13: 6,643,279 (GRCm39) |
G513D |
probably damaging |
Het |
Pla2g4d |
T |
C |
2: 120,112,108 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,557,582 (GRCm39) |
E1419G |
unknown |
Het |
Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
Sgk2 |
T |
G |
2: 162,841,115 (GRCm39) |
L175R |
probably damaging |
Het |
Sgk2 |
C |
A |
2: 162,841,125 (GRCm39) |
F178L |
probably damaging |
Het |
Sim1 |
T |
C |
10: 50,785,911 (GRCm39) |
Y255H |
probably benign |
Het |
Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
Slc38a3 |
A |
T |
9: 107,534,886 (GRCm39) |
I163N |
probably damaging |
Het |
Slc39a4 |
A |
G |
15: 76,500,870 (GRCm39) |
L31P |
probably damaging |
Het |
Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
Slfnl1 |
G |
T |
4: 120,390,275 (GRCm39) |
|
probably benign |
Het |
Stradb |
G |
A |
1: 59,031,828 (GRCm39) |
V247M |
probably benign |
Het |
Styk1 |
T |
A |
6: 131,289,967 (GRCm39) |
|
probably benign |
Het |
Sult1d1 |
A |
G |
5: 87,707,614 (GRCm39) |
|
probably benign |
Het |
Syk |
C |
T |
13: 52,765,157 (GRCm39) |
P95S |
probably benign |
Het |
Taar2 |
T |
A |
10: 23,817,454 (GRCm39) |
N331K |
probably benign |
Het |
Thsd7b |
A |
G |
1: 130,117,587 (GRCm39) |
|
probably benign |
Het |
Tmbim7 |
G |
A |
5: 3,723,188 (GRCm39) |
|
probably null |
Het |
Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
Tmem184c |
A |
T |
8: 78,331,276 (GRCm39) |
C158S |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,988,548 (GRCm39) |
I310T |
probably benign |
Het |
Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
Xirp1 |
T |
C |
9: 119,847,767 (GRCm39) |
E372G |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,994,790 (GRCm39) |
E198G |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,066,160 (GRCm39) |
N44D |
probably damaging |
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 |
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'- CCAAAGGTGGGAGACTTGTG -3'
(R):5'- AAGGACATGCTGCTGGTGAG -3'
Sequencing Primer
(F):5'- GGAGACTTGTGGACTAGTGTC -3'
(R):5'- TGGCCAGCCCAGAGAATAC -3'
|
Posted On |
2014-12-29 |