Incidental Mutation 'R6015:Parp3'
| ID |
478569 |
| 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 |
043254-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6015 (G1)
|
| Quality Score |
165.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106347521-106354148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106351481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 207
(V207M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000067218
AA Change: V207M
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: V207M
| 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: V212M
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: V212M
| 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: V207M
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: V207M
| 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: ENSMUST00000139362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127400
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214682
AA Change: V207M
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
C |
7: 51,224,525 (GRCm39) |
S480R |
probably benign |
Het |
| Aqr |
A |
G |
2: 114,005,646 (GRCm39) |
M1T |
probably null |
Het |
| Arhgef28 |
A |
G |
13: 98,211,530 (GRCm39) |
V151A |
possibly damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,555,148 (GRCm39) |
I170N |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,949,055 (GRCm39) |
V817D |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,143,761 (GRCm39) |
I2950S |
probably damaging |
Het |
| Ces1h |
A |
G |
8: 94,083,691 (GRCm39) |
L417P |
unknown |
Het |
| Cimap3 |
T |
C |
3: 105,906,937 (GRCm39) |
D154G |
possibly damaging |
Het |
| Csf1r |
A |
G |
18: 61,242,784 (GRCm39) |
E49G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,287,346 (GRCm39) |
S726P |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,399,959 (GRCm39) |
|
probably null |
Het |
| Il9r |
A |
G |
11: 32,142,674 (GRCm39) |
V287A |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,692,143 (GRCm39) |
C909R |
possibly damaging |
Het |
| Kat7 |
G |
A |
11: 95,174,860 (GRCm39) |
H384Y |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,827,185 (GRCm39) |
S2272P |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,386,100 (GRCm39) |
H371R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,860,688 (GRCm39) |
Y310N |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,208,209 (GRCm39) |
E685V |
probably damaging |
Het |
| Ogfr |
G |
T |
2: 180,236,467 (GRCm39) |
G351W |
probably damaging |
Het |
| Or52ac1 |
G |
T |
7: 104,245,915 (GRCm39) |
P158T |
probably damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,486,146 (GRCm39) |
|
probably null |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pik3ap1 |
T |
A |
19: 41,316,640 (GRCm39) |
Y250F |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,206 (GRCm39) |
I188N |
probably damaging |
Het |
| Prmt7 |
T |
G |
8: 106,961,640 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
T |
C |
5: 36,361,594 (GRCm39) |
V62A |
probably benign |
Het |
| Relch |
T |
C |
1: 105,619,683 (GRCm39) |
L280S |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,090,462 (GRCm38) |
V129I |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,916,553 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
C |
A |
1: 106,928,337 (GRCm39) |
A319E |
probably benign |
Het |
| Sez6l2 |
A |
T |
7: 126,552,625 (GRCm39) |
S134C |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,059,046 (GRCm39) |
H184Q |
probably benign |
Het |
| Slc9a9 |
G |
T |
9: 94,821,602 (GRCm39) |
A330S |
probably benign |
Het |
| Sord |
T |
C |
2: 122,087,424 (GRCm39) |
V176A |
probably damaging |
Het |
| Ssbp2 |
G |
T |
13: 91,817,862 (GRCm39) |
|
probably null |
Het |
| Stab2 |
G |
T |
10: 86,773,906 (GRCm39) |
N808K |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,296,819 (GRCm39) |
|
probably null |
Het |
| Tpcn2 |
A |
G |
7: 144,820,588 (GRCm39) |
V341A |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,177,995 (GRCm39) |
S2941* |
probably null |
Het |
| Utrn |
T |
A |
10: 12,354,168 (GRCm39) |
H2806L |
possibly damaging |
Het |
| Vmn1r40 |
C |
A |
6: 89,691,588 (GRCm39) |
A135D |
probably damaging |
Het |
| Vmn1r68 |
C |
T |
7: 10,261,616 (GRCm39) |
V161M |
probably benign |
Het |
| Wiz |
T |
A |
17: 32,606,574 (GRCm39) |
I54F |
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 |
|
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'- TCTTGGCCTGAAGCACATC -3'
(R):5'- TTATCTCCCCAGGTGTACAGC -3'
Sequencing Primer
(F):5'- CTGAAGCACATCAGGGGAGTTG -3'
(R):5'- CTGTGAGGACCGTGGTCAAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation