Incidental Mutation 'R2871:Parp1'
| ID |
253673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp1
|
| Ensembl Gene |
ENSMUSG00000026496 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 1 |
| Synonyms |
5830444G22Rik, sPARP-1, PARP, Adprt1, parp-1, Adprp |
| MMRRC Submission |
040459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.781)
|
| Stock # |
R2871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
180396456-180428564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180401230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 45
(D45G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027777]
[ENSMUST00000194434]
[ENSMUST00000194608]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027777
AA Change: D45G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: D45G
| Domain | Start | End | E-Value | Type |
|---|
|
zf-PARP
|
12 |
90 |
4.73e-36 |
SMART |
|
zf-PARP
|
116 |
200 |
3.99e-34 |
SMART |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
PADR1
|
280 |
333 |
1.48e-28 |
SMART |
|
low complexity region
|
359 |
378 |
N/A |
INTRINSIC |
|
BRCT
|
388 |
467 |
9.62e-7 |
SMART |
|
low complexity region
|
494 |
512 |
N/A |
INTRINSIC |
|
WGR
|
553 |
633 |
2.36e-31 |
SMART |
|
Pfam:PARP_reg
|
663 |
794 |
4e-54 |
PFAM |
|
Pfam:PARP
|
797 |
1007 |
6.4e-79 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194434
AA Change: D3G
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141775
Gene: ENSMUSG00000026496
AA Change: D3G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-PARP
|
1 |
48 |
3.8e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194608
AA Change: D45G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142295
Gene: ENSMUSG00000026496
AA Change: D45G
| Domain | Start | End | E-Value | Type |
|---|
|
zf-PARP
|
12 |
68 |
2.9e-20 |
SMART |
|
| Meta Mutation Damage Score |
0.8362 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.2%
- 10x: 92.4%
- 20x: 72.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous ablation of this gene may lead to skin hyperplasia, extreme sensitivity to radiation and alkylating agents, abnormal response to xenobiotics and endogenous compounds, reduced noise-induced hearing loss, altered susceptibility to neurotoxicity,or protection against renal ischemic injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,846,002 (GRCm39) |
C811R |
possibly damaging |
Het |
| Akap8l |
G |
A |
17: 32,557,416 (GRCm39) |
T65I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,069,034 (GRCm39) |
|
probably null |
Het |
| Armc2 |
C |
T |
10: 41,842,696 (GRCm39) |
|
probably null |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,258 (GRCm39) |
Y87C |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,757,281 (GRCm39) |
F273I |
possibly damaging |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,451,511 (GRCm39) |
F113S |
unknown |
Het |
| Cyp4a14 |
C |
A |
4: 115,344,498 (GRCm39) |
G456W |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,315,559 (GRCm39) |
H260R |
possibly damaging |
Het |
| Ddrgk1 |
T |
A |
2: 130,506,564 (GRCm39) |
|
probably benign |
Het |
| Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Eif4enif1 |
C |
T |
11: 3,192,586 (GRCm39) |
P805S |
probably damaging |
Het |
| Eml5 |
C |
T |
12: 98,831,660 (GRCm39) |
D433N |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,012,938 (GRCm39) |
I668T |
probably benign |
Het |
| Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Het |
| Ftdc1 |
A |
T |
16: 58,434,342 (GRCm39) |
I125K |
probably benign |
Het |
| Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
| Grid2ip |
C |
A |
5: 143,343,684 (GRCm39) |
Q127K |
probably benign |
Het |
| Hdhd2 |
T |
C |
18: 77,042,702 (GRCm39) |
F44L |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,415,205 (GRCm39) |
V1335I |
probably benign |
Het |
| Ighv2-2 |
G |
A |
12: 113,552,118 (GRCm39) |
T40I |
possibly damaging |
Het |
| Kcnk10 |
T |
A |
12: 98,401,072 (GRCm39) |
R520S |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,614,907 (GRCm39) |
E567G |
probably damaging |
Het |
| Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,930,745 (GRCm39) |
T367A |
probably benign |
Het |
| Lpo |
A |
G |
11: 87,707,350 (GRCm39) |
I221T |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,722 (GRCm39) |
I532V |
probably benign |
Het |
| Matr3 |
T |
A |
18: 35,705,349 (GRCm39) |
S91R |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,309,878 (GRCm39) |
P191L |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Mroh2a |
C |
A |
1: 88,183,287 (GRCm39) |
L1292I |
probably damaging |
Het |
| Msh2 |
C |
A |
17: 87,993,012 (GRCm39) |
Q314K |
possibly damaging |
Het |
| Mtor |
T |
A |
4: 148,624,487 (GRCm39) |
M2089K |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nlrp4b |
C |
T |
7: 10,444,170 (GRCm39) |
Q40* |
probably null |
Het |
| Nomo1 |
C |
A |
7: 45,696,361 (GRCm39) |
T293N |
probably damaging |
Het |
| Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
| Npas3 |
C |
T |
12: 54,114,796 (GRCm39) |
R542* |
probably null |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Or13a17 |
A |
G |
7: 140,271,198 (GRCm39) |
I127V |
possibly damaging |
Het |
| Or13j1 |
C |
A |
4: 43,706,458 (GRCm39) |
V37L |
probably benign |
Het |
| Or5t16 |
A |
T |
2: 86,819,192 (GRCm39) |
C109* |
probably null |
Het |
| Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
| Pcdhga9 |
T |
A |
18: 37,870,524 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
| Pkp4 |
C |
A |
2: 59,138,500 (GRCm39) |
T250K |
probably benign |
Het |
| Plekhg5 |
T |
A |
4: 152,191,960 (GRCm39) |
C433S |
probably benign |
Het |
| Plin2 |
A |
G |
4: 86,586,915 (GRCm39) |
M1T |
probably null |
Het |
| Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Het |
| Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
| Psmd13 |
A |
T |
7: 140,466,968 (GRCm39) |
T116S |
probably damaging |
Het |
| Rel |
T |
C |
11: 23,711,129 (GRCm39) |
I13V |
probably benign |
Het |
| Reln |
C |
T |
5: 22,254,789 (GRCm39) |
V527I |
possibly damaging |
Het |
| Rnf6 |
T |
C |
5: 146,147,215 (GRCm39) |
Y601C |
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,631,766 (GRCm39) |
I48M |
probably damaging |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
A |
C |
4: 59,093,850 (GRCm39) |
L226R |
probably damaging |
Het |
| Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,208,227 (GRCm39) |
Y750F |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
| Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
|
| Other mutations in Parp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Parp1
|
APN |
1 |
180,417,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01316:Parp1
|
APN |
1 |
180,420,500 (GRCm39) |
splice site |
probably benign |
|
|
IGL01915:Parp1
|
APN |
1 |
180,425,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02016:Parp1
|
APN |
1 |
180,426,516 (GRCm39) |
splice site |
probably null |
|
|
IGL03328:Parp1
|
APN |
1 |
180,427,155 (GRCm39) |
splice site |
probably benign |
|
|
IGL03348:Parp1
|
APN |
1 |
180,405,272 (GRCm39) |
splice site |
probably benign |
|
|
IGL03368:Parp1
|
APN |
1 |
180,408,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0541:Parp1
|
UTSW |
1 |
180,426,616 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0648:Parp1
|
UTSW |
1 |
180,428,005 (GRCm39) |
splice site |
probably benign |
|
|
R1326:Parp1
|
UTSW |
1 |
180,428,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Parp1
|
UTSW |
1 |
180,427,653 (GRCm39) |
splice site |
probably benign |
|
|
R1438:Parp1
|
UTSW |
1 |
180,418,807 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1781:Parp1
|
UTSW |
1 |
180,415,578 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1800:Parp1
|
UTSW |
1 |
180,428,091 (GRCm39) |
splice site |
probably null |
|
|
R1900:Parp1
|
UTSW |
1 |
180,424,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1903:Parp1
|
UTSW |
1 |
180,416,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Parp1
|
UTSW |
1 |
180,401,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Parp1
|
UTSW |
1 |
180,401,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Parp1
|
UTSW |
1 |
180,401,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Parp1
|
UTSW |
1 |
180,401,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Parp1
|
UTSW |
1 |
180,401,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Parp1
|
UTSW |
1 |
180,401,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2874:Parp1
|
UTSW |
1 |
180,401,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Parp1
|
UTSW |
1 |
180,414,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4510:Parp1
|
UTSW |
1 |
180,418,841 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4511:Parp1
|
UTSW |
1 |
180,418,841 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4529:Parp1
|
UTSW |
1 |
180,418,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Parp1
|
UTSW |
1 |
180,417,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4876:Parp1
|
UTSW |
1 |
180,396,600 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6666:Parp1
|
UTSW |
1 |
180,413,516 (GRCm39) |
missense |
probably benign |
|
|
R6766:Parp1
|
UTSW |
1 |
180,425,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Parp1
|
UTSW |
1 |
180,416,235 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6974:Parp1
|
UTSW |
1 |
180,417,071 (GRCm39) |
nonsense |
probably null |
|
|
R6996:Parp1
|
UTSW |
1 |
180,414,936 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7034:Parp1
|
UTSW |
1 |
180,425,817 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7036:Parp1
|
UTSW |
1 |
180,425,817 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7068:Parp1
|
UTSW |
1 |
180,416,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Parp1
|
UTSW |
1 |
180,426,629 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7326:Parp1
|
UTSW |
1 |
180,396,665 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7603:Parp1
|
UTSW |
1 |
180,427,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7733:Parp1
|
UTSW |
1 |
180,427,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7772:Parp1
|
UTSW |
1 |
180,416,963 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8735:Parp1
|
UTSW |
1 |
180,396,690 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8747:Parp1
|
UTSW |
1 |
180,422,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Parp1
|
UTSW |
1 |
180,417,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9243:Parp1
|
UTSW |
1 |
180,415,680 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9268:Parp1
|
UTSW |
1 |
180,415,509 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCCAGGATGAGAAGCCAG -3'
(R):5'- TCCATGCAAGCTTAAAGTCTTCC -3'
Sequencing Primer
(F):5'- AGAAGCTGTTTCTCATCCATTTG -3'
(R):5'- AGAGAGAGCGCTTGAACCCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation