Incidental Mutation 'R2474:Parp8'
ID |
253302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parp8
|
Ensembl Gene |
ENSMUSG00000021725 |
Gene Name |
poly (ADP-ribose) polymerase family, member 8 |
Synonyms |
D13Ertd275e, 2810430O08Rik |
MMRRC Submission |
040405-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2474 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
116991356-117162073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 117029577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 510
(C510S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022239]
[ENSMUST00000223949]
[ENSMUST00000225344]
[ENSMUST00000226107]
|
AlphaFold |
Q3UD82 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022239
AA Change: C549S
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000022239 Gene: ENSMUSG00000021725 AA Change: C549S
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
internal_repeat_1
|
332 |
410 |
4.61e-10 |
PROSPERO |
internal_repeat_1
|
404 |
476 |
4.61e-10 |
PROSPERO |
low complexity region
|
497 |
514 |
N/A |
INTRINSIC |
Pfam:PARP
|
712 |
839 |
2e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223949
AA Change: C510S
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225344
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226107
|
Meta Mutation Damage Score |
0.9638 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
A |
G |
3: 151,248,361 (GRCm39) |
T678A |
probably benign |
Het |
Asb7 |
A |
T |
7: 66,328,901 (GRCm39) |
N46K |
probably damaging |
Het |
Atxn7l2 |
A |
C |
3: 108,111,293 (GRCm39) |
S414R |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Cxcl13 |
C |
T |
5: 96,107,816 (GRCm39) |
Q91* |
probably null |
Het |
Dchs1 |
T |
C |
7: 105,404,281 (GRCm39) |
N2754D |
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,422,045 (GRCm39) |
V125E |
probably damaging |
Het |
Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
Greb1 |
T |
C |
12: 16,764,954 (GRCm39) |
N393S |
possibly damaging |
Het |
Hfm1 |
A |
T |
5: 107,020,282 (GRCm39) |
V1048D |
possibly damaging |
Het |
Ilvbl |
T |
C |
10: 78,412,558 (GRCm39) |
V93A |
probably damaging |
Het |
Itpkb |
A |
G |
1: 180,161,716 (GRCm39) |
D614G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lgi3 |
G |
A |
14: 70,770,689 (GRCm39) |
|
probably null |
Het |
Mpeg1 |
G |
A |
19: 12,439,613 (GRCm39) |
C357Y |
probably damaging |
Het |
Nedd1 |
A |
G |
10: 92,555,465 (GRCm39) |
F7L |
probably damaging |
Het |
Or8g26 |
A |
G |
9: 39,095,846 (GRCm39) |
D121G |
probably damaging |
Het |
Or8k35 |
C |
A |
2: 86,424,957 (GRCm39) |
V72F |
probably benign |
Het |
Phb1 |
T |
C |
11: 95,562,248 (GRCm39) |
F42L |
possibly damaging |
Het |
Pik3r1 |
A |
T |
13: 101,839,284 (GRCm39) |
Y189* |
probably null |
Het |
Rps5 |
T |
A |
7: 12,660,488 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp3 |
T |
A |
11: 69,564,923 (GRCm39) |
N516Y |
probably damaging |
Het |
Tfap2b |
A |
T |
1: 19,284,599 (GRCm39) |
H169L |
possibly damaging |
Het |
Tmem260 |
A |
G |
14: 48,733,781 (GRCm39) |
D226G |
probably null |
Het |
Ttc6 |
G |
T |
12: 57,622,713 (GRCm39) |
R37S |
probably benign |
Het |
Vmn2r84 |
A |
T |
10: 130,222,392 (GRCm39) |
D609E |
possibly damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,598,891 (GRCm39) |
M192L |
probably benign |
Het |
Zfp746 |
T |
C |
6: 48,041,703 (GRCm39) |
D341G |
probably damaging |
Het |
Zfp941 |
A |
T |
7: 140,391,384 (GRCm39) |
H658Q |
probably damaging |
Het |
Zw10 |
T |
A |
9: 48,978,105 (GRCm39) |
I351N |
probably damaging |
Het |
|
Other mutations in Parp8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00916:Parp8
|
APN |
13 |
117,063,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01346:Parp8
|
APN |
13 |
117,031,600 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01793:Parp8
|
APN |
13 |
117,047,415 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01926:Parp8
|
APN |
13 |
116,998,838 (GRCm39) |
splice site |
probably benign |
|
IGL01958:Parp8
|
APN |
13 |
117,013,108 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02131:Parp8
|
APN |
13 |
117,047,409 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02398:Parp8
|
APN |
13 |
117,047,399 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02496:Parp8
|
APN |
13 |
116,998,838 (GRCm39) |
splice site |
probably benign |
|
IGL03135:Parp8
|
APN |
13 |
117,047,478 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03143:Parp8
|
APN |
13 |
117,047,497 (GRCm39) |
splice site |
probably benign |
|
IGL03201:Parp8
|
APN |
13 |
116,999,605 (GRCm39) |
splice site |
probably benign |
|
blondi
|
UTSW |
13 |
117,029,577 (GRCm39) |
missense |
possibly damaging |
0.77 |
Heidi
|
UTSW |
13 |
116,998,740 (GRCm39) |
splice site |
probably null |
|
R0362:Parp8
|
UTSW |
13 |
117,061,504 (GRCm39) |
nonsense |
probably null |
|
R0699:Parp8
|
UTSW |
13 |
117,059,120 (GRCm39) |
missense |
probably benign |
0.01 |
R1445:Parp8
|
UTSW |
13 |
117,161,886 (GRCm39) |
splice site |
probably null |
|
R1676:Parp8
|
UTSW |
13 |
117,014,064 (GRCm39) |
missense |
probably damaging |
0.99 |
R1977:Parp8
|
UTSW |
13 |
117,047,449 (GRCm39) |
missense |
probably damaging |
0.96 |
R2019:Parp8
|
UTSW |
13 |
117,004,968 (GRCm39) |
splice site |
probably benign |
|
R2049:Parp8
|
UTSW |
13 |
117,031,422 (GRCm39) |
missense |
probably benign |
0.20 |
R2142:Parp8
|
UTSW |
13 |
117,031,422 (GRCm39) |
missense |
probably benign |
0.20 |
R2566:Parp8
|
UTSW |
13 |
117,032,223 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3863:Parp8
|
UTSW |
13 |
117,031,303 (GRCm39) |
missense |
probably benign |
0.01 |
R4126:Parp8
|
UTSW |
13 |
117,005,005 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4518:Parp8
|
UTSW |
13 |
117,032,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4519:Parp8
|
UTSW |
13 |
117,032,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4767:Parp8
|
UTSW |
13 |
117,005,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R5355:Parp8
|
UTSW |
13 |
116,998,740 (GRCm39) |
splice site |
probably null |
|
R5633:Parp8
|
UTSW |
13 |
117,013,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R5942:Parp8
|
UTSW |
13 |
117,005,969 (GRCm39) |
missense |
probably benign |
0.12 |
R5978:Parp8
|
UTSW |
13 |
117,032,268 (GRCm39) |
missense |
probably benign |
0.01 |
R6039:Parp8
|
UTSW |
13 |
117,014,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R6039:Parp8
|
UTSW |
13 |
117,014,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Parp8
|
UTSW |
13 |
117,031,651 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7016:Parp8
|
UTSW |
13 |
117,031,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R7139:Parp8
|
UTSW |
13 |
117,161,802 (GRCm39) |
missense |
probably benign |
0.21 |
R7305:Parp8
|
UTSW |
13 |
117,031,461 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7314:Parp8
|
UTSW |
13 |
117,004,996 (GRCm39) |
missense |
probably benign |
0.01 |
R7360:Parp8
|
UTSW |
13 |
117,032,307 (GRCm39) |
missense |
probably benign |
0.02 |
R7526:Parp8
|
UTSW |
13 |
117,031,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R8078:Parp8
|
UTSW |
13 |
117,061,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R8108:Parp8
|
UTSW |
13 |
117,003,609 (GRCm39) |
nonsense |
probably null |
|
R8372:Parp8
|
UTSW |
13 |
116,991,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Parp8
|
UTSW |
13 |
117,013,126 (GRCm39) |
missense |
probably benign |
|
R9072:Parp8
|
UTSW |
13 |
117,047,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R9073:Parp8
|
UTSW |
13 |
117,047,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R9351:Parp8
|
UTSW |
13 |
117,000,781 (GRCm39) |
missense |
probably damaging |
0.99 |
R9441:Parp8
|
UTSW |
13 |
117,029,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R9448:Parp8
|
UTSW |
13 |
117,039,360 (GRCm39) |
nonsense |
probably null |
|
R9470:Parp8
|
UTSW |
13 |
117,031,292 (GRCm39) |
missense |
probably benign |
0.02 |
R9562:Parp8
|
UTSW |
13 |
117,029,631 (GRCm39) |
missense |
probably benign |
0.16 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGAAGTCATATTAATGCCTTTCCATG -3'
(R):5'- AGCATTCCAATCCGAGACCG -3'
Sequencing Primer
(F):5'- GCCTTTCCATGCAAATGATAGC -3'
(R):5'- GCGGCTTCCTGGTGCAG -3'
|
Posted On |
2014-12-04 |