Incidental Mutation 'R3980:Parp3'
| ID |
311261 |
| 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 |
040843-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106347521-106354148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106351267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 278
(D278G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047721]
[ENSMUST00000067218]
[ENSMUST00000112479]
[ENSMUST00000123555]
[ENSMUST00000125850]
[ENSMUST00000214682]
[ENSMUST00000156426]
|
| 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: D278G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: D278G
| 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: D283G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: D283G
| 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: D278G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: D278G
| 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: ENSMUST00000140029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139362
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214682
AA Change: D278G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
G |
A |
15: 74,454,792 (GRCm39) |
G268R |
probably damaging |
Het |
| Amacr |
T |
A |
15: 10,989,015 (GRCm39) |
Y240* |
probably null |
Het |
| Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
| Arhgef25 |
C |
A |
10: 127,023,089 (GRCm39) |
C106F |
probably damaging |
Het |
| Bean1 |
A |
T |
8: 104,937,730 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Ccr9 |
A |
T |
9: 123,608,441 (GRCm39) |
N41I |
probably benign |
Het |
| Ceacam16 |
A |
G |
7: 19,592,558 (GRCm39) |
F117L |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,289,155 (GRCm39) |
|
probably benign |
Het |
| Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,956,056 (GRCm39) |
K3384* |
probably null |
Het |
| Ctnnd2 |
T |
A |
15: 30,669,589 (GRCm39) |
H399Q |
probably benign |
Het |
| Cutal |
T |
C |
2: 34,772,325 (GRCm39) |
Y30H |
possibly damaging |
Het |
| Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Defb30 |
C |
A |
14: 63,273,421 (GRCm39) |
C64F |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,446,960 (GRCm39) |
I45T |
probably benign |
Het |
| Esyt1 |
T |
A |
10: 128,347,393 (GRCm39) |
D1044V |
probably damaging |
Het |
| Gabpb2 |
A |
T |
3: 95,096,081 (GRCm39) |
V382E |
probably damaging |
Het |
| Glb1 |
T |
A |
9: 114,246,132 (GRCm39) |
I61K |
probably damaging |
Het |
| Insyn2b |
G |
A |
11: 34,352,678 (GRCm39) |
C240Y |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,783,226 (GRCm39) |
V263A |
possibly damaging |
Het |
| Kdm5b |
A |
G |
1: 134,547,408 (GRCm39) |
D1019G |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,196,109 (GRCm39) |
L545M |
probably damaging |
Het |
| Klhl2 |
C |
A |
8: 65,196,115 (GRCm39) |
G543C |
probably damaging |
Het |
| Krt31 |
G |
T |
11: 99,939,030 (GRCm39) |
Q264K |
probably damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,864,091 (GRCm39) |
D232G |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,501,855 (GRCm39) |
F859L |
probably damaging |
Het |
| Map7 |
C |
A |
10: 20,143,099 (GRCm39) |
T416K |
unknown |
Het |
| Med18 |
T |
A |
4: 132,190,251 (GRCm39) |
I45F |
probably benign |
Het |
| Mn1 |
A |
T |
5: 111,569,636 (GRCm39) |
H1202L |
possibly damaging |
Het |
| Mpp7 |
T |
C |
18: 7,444,062 (GRCm39) |
D120G |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,437 (GRCm39) |
F469I |
possibly damaging |
Het |
| Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,369,984 (GRCm39) |
A206V |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,856,542 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Or10ak12 |
T |
A |
4: 118,666,500 (GRCm39) |
Y187F |
probably benign |
Het |
| Or51a25 |
T |
C |
7: 102,372,959 (GRCm39) |
N246S |
probably damaging |
Het |
| Phc3 |
T |
A |
3: 30,991,080 (GRCm39) |
Q346L |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,231 (GRCm39) |
L1029P |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,943,803 (GRCm39) |
I66T |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,069,255 (GRCm39) |
S1019G |
probably benign |
Het |
| Plekhg6 |
C |
A |
6: 125,350,146 (GRCm39) |
C264F |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pou4f2 |
G |
T |
8: 79,162,067 (GRCm39) |
H179N |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,108,231 (GRCm39) |
|
probably benign |
Het |
| Rapgef1 |
G |
A |
2: 29,609,662 (GRCm39) |
V700I |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,444,703 (GRCm39) |
I185V |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,349,607 (GRCm39) |
H785Q |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,035,399 (GRCm39) |
R758W |
probably benign |
Het |
| Sik3 |
G |
A |
9: 46,113,361 (GRCm39) |
V601M |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,007,552 (GRCm39) |
T286A |
probably benign |
Het |
| Slc36a3 |
G |
A |
11: 55,026,209 (GRCm39) |
T203I |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,468 (GRCm39) |
Q872L |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,245,215 (GRCm39) |
|
probably null |
Het |
| Stat6 |
T |
C |
10: 127,491,248 (GRCm39) |
V463A |
probably damaging |
Het |
| Stx7 |
T |
C |
10: 24,060,947 (GRCm39) |
S225P |
probably damaging |
Het |
| Sult2a7 |
A |
T |
7: 14,207,334 (GRCm39) |
|
probably benign |
Het |
| Tada2a |
A |
T |
11: 83,993,946 (GRCm39) |
F179L |
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,236,187 (GRCm39) |
I382V |
possibly damaging |
Het |
| Tshr |
C |
A |
12: 91,504,517 (GRCm39) |
A485D |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,698 (GRCm39) |
Y26F |
probably damaging |
Het |
| Vmn1r5 |
A |
G |
6: 56,962,636 (GRCm39) |
T104A |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AAGATAACGGGCACTGGACC -3'
(R):5'- TGACCAAGCAGCAGATTGCC -3'
Sequencing Primer
(F):5'- ATAACGGGCACTGGACCTTGTC -3'
(R):5'- CAGCAGATTGCCCGTGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation