Incidental Mutation 'R5843:Parpbp'
| ID |
450551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parpbp
|
| Ensembl Gene |
ENSMUSG00000035365 |
| Gene Name |
PARP1 binding protein |
| Synonyms |
4930547N16Rik |
| MMRRC Submission |
043224-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
87927294-87982803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87969053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 131
(L131P)
|
| 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 damaging
Transcript: ENSMUST00000048518
AA Change: L131P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365
AA Change: L131P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pjr_2
|
154 |
268 |
8e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164121
AA Change: L131P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130777
Gene: ENSMUSG00000035365
AA Change: L131P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pjr_2
|
154 |
202 |
4e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164803
AA Change: L131P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168163
AA Change: L131P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218993
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
| Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
| Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
| Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
| Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
| Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
| Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
| Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
| Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
| Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
| Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
possibly damaging |
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 |
|
R5951:Parpbp
|
UTSW |
10 |
87,975,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6003:Parpbp
|
UTSW |
10 |
87,969,020 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- CACCAGATCCATTTATAACCCTGATG -3'
(R):5'- CCCTTCCCAACCATGGTAATTG -3'
Sequencing Primer
(F):5'- AGATTCACTGATAACCCTGATGAATG -3'
(R):5'- TCCCAACCATGGTAATTGTTTATC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation