Incidental Mutation 'R6003:Parpbp'
| ID |
478469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parpbp
|
| Ensembl Gene |
ENSMUSG00000035365 |
| Gene Name |
PARP1 binding protein |
| Synonyms |
4930547N16Rik |
| MMRRC Submission |
043252-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
87927294-87982803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87969020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 142
(V142A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048518]
[ENSMUST00000164121]
[ENSMUST00000164803]
[ENSMUST00000168163]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048518
AA Change: V142A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365
AA Change: V142A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pjr_2
|
154 |
268 |
8e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164121
AA Change: V142A
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130777
Gene: ENSMUSG00000035365
AA Change: V142A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pjr_2
|
154 |
202 |
4e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164803
AA Change: V142A
PolyPhen 2
Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168163
AA Change: V142A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218993
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,312 (GRCm39) |
E157G |
probably benign |
Het |
| Abcb11 |
T |
C |
2: 69,073,811 (GRCm39) |
K1238R |
probably benign |
Het |
| Ankar |
T |
A |
1: 72,738,046 (GRCm39) |
E45D |
probably damaging |
Het |
| Antxrl |
G |
T |
14: 33,797,592 (GRCm39) |
K522N |
possibly damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,003,011 (GRCm39) |
Y93C |
probably damaging |
Het |
| As3mt |
C |
T |
19: 46,696,567 (GRCm39) |
T35M |
possibly damaging |
Het |
| Aspg |
T |
C |
12: 112,079,476 (GRCm39) |
S85P |
probably damaging |
Het |
| Cachd1 |
T |
C |
4: 100,809,216 (GRCm39) |
S234P |
possibly damaging |
Het |
| Ccdc3 |
T |
C |
2: 5,146,218 (GRCm39) |
|
probably null |
Het |
| Cnpy1 |
T |
C |
5: 28,450,759 (GRCm39) |
T16A |
probably benign |
Het |
| Cope |
T |
C |
8: 70,757,285 (GRCm39) |
L43P |
probably benign |
Het |
| E2f8 |
T |
C |
7: 48,520,525 (GRCm39) |
M599V |
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,755,319 (GRCm39) |
D954E |
unknown |
Het |
| Gfpt1 |
T |
A |
6: 87,065,230 (GRCm39) |
|
probably null |
Het |
| Ggps1 |
T |
G |
13: 14,228,587 (GRCm39) |
S145R |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,803,400 (GRCm39) |
D1337G |
probably damaging |
Het |
| Gtf2a1l |
G |
T |
17: 89,001,531 (GRCm39) |
G82V |
probably damaging |
Het |
| Gucy1b1 |
C |
A |
3: 81,965,584 (GRCm39) |
L87F |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,311 (GRCm39) |
V76A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,129,294 (GRCm39) |
E460G |
probably damaging |
Het |
| Kdm4b |
C |
T |
17: 56,703,916 (GRCm39) |
R756W |
probably damaging |
Het |
| Lax1 |
T |
A |
1: 133,611,834 (GRCm39) |
I34F |
probably benign |
Het |
| Marveld3 |
A |
T |
8: 110,680,960 (GRCm39) |
C312S |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,237,254 (GRCm39) |
D824G |
possibly damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,548,358 (GRCm39) |
A17D |
possibly damaging |
Het |
| Nup133 |
A |
T |
8: 124,665,031 (GRCm39) |
I220N |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,189,751 (GRCm39) |
V984A |
probably benign |
Het |
| Nup54 |
A |
T |
5: 92,570,853 (GRCm39) |
D318E |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,591,151 (GRCm39) |
K94N |
probably damaging |
Het |
| Or2ak5 |
A |
T |
11: 58,611,196 (GRCm39) |
I226N |
probably benign |
Het |
| Or5b3 |
T |
C |
19: 13,388,403 (GRCm39) |
S157P |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,763,820 (GRCm39) |
I564V |
probably benign |
Het |
| Rdh16f2 |
A |
T |
10: 127,712,201 (GRCm39) |
R219S |
probably benign |
Het |
| Rfx6 |
C |
T |
10: 51,584,683 (GRCm39) |
R228C |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,749,767 (GRCm39) |
|
probably null |
Het |
| Rskr |
T |
G |
11: 78,183,846 (GRCm39) |
|
probably null |
Het |
| Slc15a2 |
T |
C |
16: 36,574,910 (GRCm39) |
I531V |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,930 (GRCm39) |
E58G |
possibly damaging |
Het |
| Tmem214 |
C |
A |
5: 31,028,068 (GRCm39) |
T96K |
possibly damaging |
Het |
| Usp19 |
T |
C |
9: 108,373,579 (GRCm39) |
Y691H |
probably damaging |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,125 (GRCm39) |
W200* |
probably null |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,248 (GRCm39) |
S786R |
probably damaging |
Het |
| Vps52 |
T |
A |
17: 34,175,068 (GRCm39) |
M1K |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,714,891 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Parpbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01386:Parpbp
|
APN |
10 |
87,975,848 (GRCm39) |
nonsense |
probably null |
|
|
IGL02058:Parpbp
|
APN |
10 |
87,979,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02222:Parpbp
|
APN |
10 |
87,975,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02976:Parpbp
|
APN |
10 |
87,947,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03013:Parpbp
|
APN |
10 |
87,975,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4468001:Parpbp
|
UTSW |
10 |
87,979,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4544001:Parpbp
|
UTSW |
10 |
87,950,411 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0145:Parpbp
|
UTSW |
10 |
87,928,871 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0201:Parpbp
|
UTSW |
10 |
87,928,758 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0471:Parpbp
|
UTSW |
10 |
87,929,569 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2057:Parpbp
|
UTSW |
10 |
87,960,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2350:Parpbp
|
UTSW |
10 |
87,968,950 (GRCm39) |
splice site |
probably benign |
|
|
R4551:Parpbp
|
UTSW |
10 |
87,929,564 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4552:Parpbp
|
UTSW |
10 |
87,929,564 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5843:Parpbp
|
UTSW |
10 |
87,969,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5951:Parpbp
|
UTSW |
10 |
87,975,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6656:Parpbp
|
UTSW |
10 |
87,946,175 (GRCm39) |
missense |
probably benign |
|
|
R7081:Parpbp
|
UTSW |
10 |
87,929,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7240:Parpbp
|
UTSW |
10 |
87,960,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7334:Parpbp
|
UTSW |
10 |
87,947,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7615:Parpbp
|
UTSW |
10 |
87,929,499 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8025:Parpbp
|
UTSW |
10 |
87,928,970 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8919:Parpbp
|
UTSW |
10 |
87,946,189 (GRCm39) |
missense |
probably null |
0.02 |
|
R8923:Parpbp
|
UTSW |
10 |
87,947,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8970:Parpbp
|
UTSW |
10 |
87,962,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9100:Parpbp
|
UTSW |
10 |
87,968,969 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9404:Parpbp
|
UTSW |
10 |
87,950,411 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9433:Parpbp
|
UTSW |
10 |
87,975,858 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9762:Parpbp
|
UTSW |
10 |
87,960,815 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTTATAACCCTGATGAATCACC -3'
(R):5'- CCCTTCCCAACCATGGTAATTG -3'
Sequencing Primer
(F):5'- CCTACTTGAACTGGCTGA -3'
(R):5'- TCCCAACCATGGTAATTGTTTATC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation