Incidental Mutation 'R6591:Parp3'
| ID |
524584 |
| 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 |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106347521-106354148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106350891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 329
(S329P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123054
(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 |
probably benign
Transcript: ENSMUST00000067218
AA Change: S329P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: S329P
| 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 benign
Transcript: ENSMUST00000112479
AA Change: S334P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: S334P
| 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 benign
Transcript: ENSMUST00000123555
AA Change: S329P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: S329P
| 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 |
probably benign
Transcript: ENSMUST00000214682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145396
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000139362
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
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 |
|
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 |
|
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'- ACCTGTAGCTGTTGCCAGTC -3'
(R):5'- AGAAGGACATGCTGCTGGTG -3'
Sequencing Primer
(F):5'- TCTGTATTGCCTGTGGAGAAGAAAG -3'
(R):5'- TGGCCAGCCCAGAGAATAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation