Incidental Mutation 'R9470:Parp8'
| ID |
715434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp8
|
| Ensembl Gene |
ENSMUSG00000021725 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 8 |
| Synonyms |
D13Ertd275e, 2810430O08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
116991356-117162073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117031292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 473
(S473R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022239]
[ENSMUST00000223949]
[ENSMUST00000225344]
[ENSMUST00000226107]
|
| AlphaFold |
Q3UD82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022239
AA Change: S473R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: S473R
| 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 |
probably benign
Transcript: ENSMUST00000223949
AA Change: S434R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226107
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
A |
4: 129,903,074 (GRCm39) |
L558Q |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,039,219 (GRCm39) |
D483G |
possibly damaging |
Het |
| Arid1a |
T |
C |
4: 133,413,057 (GRCm39) |
D994G |
unknown |
Het |
| Barx2 |
A |
T |
9: 31,770,044 (GRCm39) |
Y161* |
probably null |
Het |
| Bmp7 |
G |
T |
2: 172,711,960 (GRCm39) |
N421K |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,974,439 (GRCm39) |
C2292S |
probably damaging |
Het |
| Ces1c |
C |
T |
8: 93,830,746 (GRCm39) |
|
probably null |
Het |
| Clca3b |
T |
C |
3: 144,543,456 (GRCm39) |
T458A |
probably damaging |
Het |
| Cntnap5a |
T |
G |
1: 116,374,344 (GRCm39) |
V952G |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,888 (GRCm39) |
E85G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,026,777 (GRCm39) |
K1962E |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,107,919 (GRCm39) |
V254A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,090,352 (GRCm39) |
I955F |
possibly damaging |
Het |
| Fam184b |
A |
G |
5: 45,741,854 (GRCm39) |
S126P |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,602,280 (GRCm39) |
D622E |
possibly damaging |
Het |
| Ggta1 |
T |
C |
2: 35,292,767 (GRCm39) |
Y180C |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,845 (GRCm39) |
V108A |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,409,660 (GRCm39) |
Y861C |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,904,518 (GRCm39) |
L799P |
probably damaging |
Het |
| Nkx1-1 |
G |
A |
5: 33,591,275 (GRCm39) |
P16S |
unknown |
Het |
| Nos1 |
T |
C |
5: 118,064,560 (GRCm39) |
L997P |
probably damaging |
Het |
| Noxred1 |
A |
G |
12: 87,269,829 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Nup50l |
T |
C |
6: 96,142,474 (GRCm39) |
H190R |
possibly damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or52j3 |
G |
A |
7: 102,836,270 (GRCm39) |
R154H |
probably benign |
Het |
| Or5ak4 |
A |
T |
2: 85,161,673 (GRCm39) |
S190T |
probably damaging |
Het |
| Or5b113 |
A |
G |
19: 13,342,115 (GRCm39) |
N41S |
probably damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,461 (GRCm39) |
I30N |
probably benign |
Het |
| Paqr7 |
T |
C |
4: 134,234,914 (GRCm39) |
V257A |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,076 (GRCm39) |
T61S |
probably benign |
Het |
| Pde11a |
G |
A |
2: 75,821,612 (GRCm39) |
A889V |
probably benign |
Het |
| Potefam3e |
T |
A |
8: 19,797,809 (GRCm39) |
S292T |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,827,345 (GRCm39) |
T18A |
probably benign |
Het |
| Sertad1 |
T |
C |
7: 27,188,871 (GRCm39) |
L64P |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
| Tmem82 |
T |
A |
4: 141,342,341 (GRCm39) |
D287V |
probably damaging |
Het |
| Traf1 |
A |
G |
2: 34,833,974 (GRCm39) |
F381L |
probably benign |
Het |
| Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ubap2 |
G |
A |
4: 41,195,434 (GRCm39) |
A1068V |
possibly damaging |
Het |
| Vmn1r47 |
T |
G |
6: 89,999,777 (GRCm39) |
M303R |
probably null |
Het |
| Zc3h12d |
T |
C |
10: 7,743,321 (GRCm39) |
S364P |
possibly damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,344,784 (GRCm39) |
N1054K |
possibly damaging |
Het |
| Zpbp |
A |
T |
11: 11,358,541 (GRCm39) |
I242N |
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 |
|
R2474:Parp8
|
UTSW |
13 |
117,029,577 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
|
|
R9562:Parp8
|
UTSW |
13 |
117,029,631 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATAACATGTGTCTTGCTTCTTGCC -3'
(R):5'- GACTGCCTCACACTGAAGTC -3'
Sequencing Primer
(F):5'- CTCTCCCAGGTCTTATAAGAAAATGC -3'
(R):5'- CTGAAGTCCCATAAGTTATTGACTCG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation