Incidental Mutation 'R1800:Parp1'
ID 203003
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 039830-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R1800 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 180396456-180428564 bp(+) (GRCm39)
Type of Mutation splice site (52 bp from exon)
DNA Base Change (assembly) T to A at 180428091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027777]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027777
AA Change: W1014R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: W1014R

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000191833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193238
Predicted Effect probably null
Transcript: ENSMUST00000195560
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.2%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,479 (GRCm39) K556R probably damaging Het
4933406P04Rik A T 10: 20,186,893 (GRCm39) probably benign Het
Acmsd C A 1: 127,687,493 (GRCm39) Y258* probably null Het
Adgrf5 A T 17: 43,761,973 (GRCm39) I1223F probably damaging Het
Afp C T 5: 90,638,655 (GRCm39) P6S probably benign Het
Agap2 C A 10: 126,927,540 (GRCm39) H1120Q probably damaging Het
Angpt1 A G 15: 42,375,800 (GRCm39) V152A probably damaging Het
Ankrd1 A T 19: 36,096,759 (GRCm39) F23I probably damaging Het
Armc12 T C 17: 28,757,869 (GRCm39) S334P possibly damaging Het
Arnt2 C A 7: 83,924,583 (GRCm39) D415Y probably damaging Het
Cacna1s G T 1: 136,004,592 (GRCm39) V131L probably benign Het
Cacna2d2 T C 9: 107,404,632 (GRCm39) V1141A possibly damaging Het
Cfap61 T C 2: 145,884,542 (GRCm39) L580P probably damaging Het
Chga A T 12: 102,522,164 (GRCm39) S23C probably damaging Het
Chrna5 A G 9: 54,912,159 (GRCm39) T320A probably damaging Het
Col17a1 G T 19: 47,639,301 (GRCm39) N1081K possibly damaging Het
Cox7b2 A T 5: 71,600,406 (GRCm39) C51S possibly damaging Het
Cstdc3 T A 16: 36,132,895 (GRCm39) D57E probably damaging Het
Cwc22 A T 2: 77,759,797 (GRCm39) D83E possibly damaging Het
D130043K22Rik A C 13: 25,067,877 (GRCm39) D871A probably damaging Het
Dab2 A T 15: 6,464,948 (GRCm39) M361L probably benign Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dnmbp A G 19: 43,890,159 (GRCm39) I536T probably benign Het
Ehmt1 A T 2: 24,774,302 (GRCm39) S43R probably damaging Het
Ercc5 T C 1: 44,212,540 (GRCm39) L666P probably benign Het
F5 A G 1: 164,010,403 (GRCm39) H378R probably damaging Het
Fat2 A T 11: 55,174,718 (GRCm39) N1998K probably damaging Het
Fbxo28 T C 1: 182,169,099 (GRCm39) D13G unknown Het
Fras1 T C 5: 96,857,741 (GRCm39) S2012P probably benign Het
Gm5624 T A 14: 44,799,302 (GRCm39) N41I probably damaging Het
Gm8104 A G 14: 42,959,028 (GRCm39) I73V possibly damaging Het
Gpr141b T C 13: 19,913,849 (GRCm39) noncoding transcript Het
Gpr68 G A 12: 100,845,167 (GRCm39) P126S probably damaging Het
Gucy1a2 A T 9: 3,582,685 (GRCm39) T156S possibly damaging Het
Hacl1 T A 14: 31,336,221 (GRCm39) Y429F probably damaging Het
Haus3 A C 5: 34,320,916 (GRCm39) L510R probably damaging Het
Helq C T 5: 100,921,990 (GRCm39) G738D probably benign Het
Hsd3b2 G C 3: 98,619,553 (GRCm39) P131A probably damaging Het
Il22ra1 G T 4: 135,475,471 (GRCm39) C247F probably benign Het
Ivl T C 3: 92,479,891 (GRCm39) E58G unknown Het
Kcnk9 G T 15: 72,417,948 (GRCm39) Q61K probably benign Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Loxhd1 G T 18: 77,490,198 (GRCm39) A1314S probably damaging Het
Lratd1 T C 12: 14,200,226 (GRCm39) Y167C probably damaging Het
Lrba A G 3: 86,259,175 (GRCm39) I1397V probably benign Het
Lrig3 T A 10: 125,832,920 (GRCm39) probably null Het
Lrrc36 A G 8: 106,176,397 (GRCm39) D378G probably damaging Het
Lrrc49 G A 9: 60,505,474 (GRCm39) T527I probably damaging Het
Map4k4 C A 1: 40,062,620 (GRCm39) T1195K probably damaging Het
Mrps33 G A 6: 39,779,429 (GRCm39) R89C probably damaging Het
Mtor T C 4: 148,547,349 (GRCm39) V444A probably benign Het
Myh2 A G 11: 67,079,764 (GRCm39) E1046G probably damaging Het
Myo15b G T 11: 115,771,335 (GRCm39) probably null Het
Myo5c T C 9: 75,153,446 (GRCm39) Y111H probably damaging Het
Ncoa4-ps A T 12: 119,225,506 (GRCm39) noncoding transcript Het
Ndufv2 G C 17: 66,390,481 (GRCm39) T163R probably damaging Het
Nf1 A G 11: 79,444,794 (GRCm39) N373S possibly damaging Het
Nwd2 A G 5: 63,962,917 (GRCm39) M834V probably benign Het
Ogfod2 T C 5: 124,253,019 (GRCm39) V343A probably damaging Het
Or11g2 C T 14: 50,856,143 (GRCm39) L155F probably benign Het
Or11j4 C A 14: 50,630,786 (GRCm39) S191* probably null Het
Or3a1b A T 11: 74,012,234 (GRCm39) T40S probably benign Het
Or4c115 T A 2: 88,928,050 (GRCm39) T74S probably benign Het
Or51ag1 T C 7: 103,155,248 (GRCm39) I302V possibly damaging Het
Or52ab2 T A 7: 102,969,621 (GRCm39) M1K probably null Het
Or8g34 A T 9: 39,373,410 (GRCm39) I228F probably damaging Het
Ppp3ca A T 3: 136,640,792 (GRCm39) I448F probably damaging Het
Prss44 T C 9: 110,646,272 (GRCm39) V333A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rars1 A C 11: 35,716,822 (GRCm39) D231E probably benign Het
Rfc1 T C 5: 65,421,722 (GRCm39) Y1059C probably damaging Het
Rilpl1 T A 5: 124,652,719 (GRCm39) I2F probably damaging Het
Sarm1 G T 11: 78,381,820 (GRCm39) A221E possibly damaging Het
Serpina3f A G 12: 104,183,665 (GRCm39) T176A probably damaging Het
Slc22a20 T C 19: 6,035,695 (GRCm39) E131G probably benign Het
Slc26a11 T C 11: 119,263,979 (GRCm39) V343A probably damaging Het
Slc2a4 A G 11: 69,837,133 (GRCm39) I9T probably benign Het
Slc39a6 G T 18: 24,718,259 (GRCm39) D599E probably damaging Het
Slc5a6 G T 5: 31,198,020 (GRCm39) S285* probably null Het
Spata9 A G 13: 76,125,760 (GRCm39) H81R probably benign Het
St7l A G 3: 104,826,812 (GRCm39) E436G probably damaging Het
Tecrl A G 5: 83,427,077 (GRCm39) I357T probably damaging Het
Thop1 C T 10: 80,909,043 (GRCm39) R25C probably damaging Het
Tmprss12 A G 15: 100,190,428 (GRCm39) E266G probably benign Het
Tpgs1 T A 10: 79,511,344 (GRCm39) V162D possibly damaging Het
Trpa1 C T 1: 14,944,648 (GRCm39) R1032Q probably benign Het
Tspan12 A G 6: 21,795,699 (GRCm39) Y164H probably damaging Het
Ubr4 T C 4: 139,135,274 (GRCm39) Y869H probably damaging Het
Vmn1r21 A G 6: 57,820,799 (GRCm39) I215T probably benign Het
Zan A T 5: 137,384,713 (GRCm39) S5104T unknown Het
Zfp318 T C 17: 46,722,980 (GRCm39) V1661A probably benign Het
Zfp365 C T 10: 67,724,772 (GRCm39) R372K probably damaging Het
Other mutations in Parp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGTCTCCTGTGTCAACTTG -3'
(R):5'- CCAGAGCCCTTTAACCTGTCTG -3'

Sequencing Primer
(F):5'- GACTCCCTGCTGTATGGATAAAC -3'
(R):5'- GCCCTTTAACCTGTCTGTATAAAAC -3'
Posted On 2014-06-23