Incidental Mutation 'R9231:Parp3'
| ID |
700248 |
| 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 |
068985-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106347521-106354148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106350891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 334
(S334T)
|
| 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 |
probably benign
Transcript: ENSMUST00000067218
AA Change: S329T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: S329T
| 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: S334T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: S334T
| 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 |
probably benign
Transcript: ENSMUST00000123555
AA Change: S329T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: S329T
| 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: 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: 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
98% (60/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,349,153 (GRCm39) |
Q1073R |
probably benign |
Het |
| Akirin2 |
A |
G |
4: 34,551,072 (GRCm39) |
T10A |
possibly damaging |
Het |
| Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,429,234 (GRCm39) |
V876A |
possibly damaging |
Het |
| Aqp8 |
T |
A |
7: 123,061,813 (GRCm39) |
M11K |
probably benign |
Het |
| Catsper3 |
T |
C |
13: 55,946,705 (GRCm39) |
I134T |
possibly damaging |
Het |
| Cdk9 |
G |
T |
2: 32,598,006 (GRCm39) |
T350N |
probably benign |
Het |
| Ckmt2 |
G |
T |
13: 92,011,311 (GRCm39) |
H100N |
probably damaging |
Het |
| Cnnm4 |
A |
T |
1: 36,511,258 (GRCm39) |
D162V |
probably benign |
Het |
| Cnppd1 |
T |
C |
1: 75,116,261 (GRCm39) |
H108R |
possibly damaging |
Het |
| Col17a1 |
G |
A |
19: 47,667,861 (GRCm39) |
R139* |
probably null |
Het |
| Cyp2c65 |
C |
T |
19: 39,060,661 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,819 (GRCm39) |
S39G |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,875,533 (GRCm39) |
Y144H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,271,662 (GRCm39) |
D882G |
probably benign |
Het |
| Emp1 |
C |
T |
6: 135,354,276 (GRCm39) |
T23I |
probably damaging |
Het |
| Epha8 |
T |
A |
4: 136,673,226 (GRCm39) |
D186V |
probably damaging |
Het |
| Fam169a |
T |
G |
13: 97,254,967 (GRCm39) |
D394E |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,509,084 (GRCm39) |
D376G |
probably benign |
Het |
| Fgfbp3 |
C |
T |
19: 36,896,193 (GRCm39) |
A142T |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,109,508 (GRCm39) |
S512L |
unknown |
Het |
| Fras1 |
T |
A |
5: 96,692,904 (GRCm39) |
C188S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,174,335 (GRCm39) |
C322R |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,284,989 (GRCm39) |
M437K |
possibly damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,754,341 (GRCm39) |
L181Q |
probably damaging |
Het |
| Gpr180 |
G |
A |
14: 118,395,455 (GRCm39) |
V296I |
probably damaging |
Het |
| Gucy1a1 |
C |
T |
3: 82,013,308 (GRCm39) |
E445K |
probably damaging |
Het |
| H2-T24 |
T |
C |
17: 36,331,363 (GRCm39) |
D14G |
possibly damaging |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Ing5 |
T |
G |
1: 93,739,505 (GRCm39) |
D37E |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,801,074 (GRCm39) |
T1051A |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,275,652 (GRCm39) |
S1420T |
possibly damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,912 (GRCm39) |
F646L |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,382,268 (GRCm39) |
D3731G |
probably benign |
Het |
| Mif |
T |
A |
10: 75,695,370 (GRCm39) |
I97F |
probably damaging |
Het |
| Mpp4 |
A |
T |
1: 59,163,833 (GRCm39) |
V507D |
probably damaging |
Het |
| Mrpl1 |
C |
A |
5: 96,361,719 (GRCm39) |
N35K |
probably benign |
Het |
| Naf1 |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,146 (GRCm39) |
|
probably benign |
Het |
| Nat8f6 |
A |
G |
6: 85,785,630 (GRCm39) |
V173A |
probably damaging |
Het |
| Ninl |
C |
T |
2: 150,792,129 (GRCm39) |
R798Q |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,840 (GRCm39) |
I174V |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,989 (GRCm39) |
M163L |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,875 (GRCm39) |
H343R |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,661,583 (GRCm39) |
V1455A |
probably damaging |
Het |
| Pcbp2 |
T |
G |
15: 102,394,477 (GRCm39) |
|
probably null |
Het |
| Perm1 |
A |
T |
4: 156,302,234 (GRCm39) |
E259D |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,705,040 (GRCm39) |
N815I |
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,934,286 (GRCm39) |
D838V |
possibly damaging |
Het |
| Prdm12 |
A |
G |
2: 31,530,265 (GRCm39) |
D52G |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,223 (GRCm39) |
N39S |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,672,084 (GRCm39) |
C1657S |
probably benign |
Het |
| Sugct |
T |
A |
13: 17,627,071 (GRCm39) |
T261S |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,164,885 (GRCm39) |
L446P |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,136,761 (GRCm39) |
D47E |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,231 (GRCm39) |
T2119S |
probably damaging |
Het |
| Tent5a |
T |
G |
9: 85,208,388 (GRCm39) |
D145A |
possibly damaging |
Het |
| Tmem132b |
T |
C |
5: 125,860,531 (GRCm39) |
M592T |
probably damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,879,340 (GRCm39) |
I862N |
unknown |
Het |
| Washc2 |
C |
A |
6: 116,235,899 (GRCm39) |
D1123E |
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,440,089 (GRCm39) |
I412M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGTAGCTGTTGCCAGTC -3'
(R):5'- AAGGACATGCTGCTGGTGAG -3'
Sequencing Primer
(F):5'- TCTGTATTGCCTGTGGAGAAGAAAG -3'
(R):5'- TGGCCAGCCCAGAGAATAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation