Incidental Mutation 'R1781:Parp1'
ID 195251
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 039812-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R1781 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 180396456-180428564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180415578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 466 (S466P)
Ref Sequence ENSEMBL: ENSMUSP00000027777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027777]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027777
AA Change: S466P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: S466P

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: ENSMUST00000183443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192411
Meta Mutation Damage Score 0.2409 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 97% (88/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,932,117 (GRCm39) K211E probably damaging Het
Abca13 T A 11: 9,219,194 (GRCm39) L376Q probably damaging Het
Abca17 T C 17: 24,486,531 (GRCm39) T1499A possibly damaging Het
Anks6 A C 4: 47,043,639 (GRCm39) N363K possibly damaging Het
Apob T A 12: 8,059,603 (GRCm39) I2695N possibly damaging Het
Arhgef18 C T 8: 3,430,495 (GRCm39) R123W probably damaging Het
Atg14 T A 14: 47,786,607 (GRCm39) probably null Het
Atg2a A T 19: 6,306,243 (GRCm39) I1368F probably damaging Het
Btbd9 A G 17: 30,732,567 (GRCm39) S373P probably damaging Het
Ccdc83 T C 7: 89,899,749 (GRCm39) E41G probably damaging Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdh8 T C 8: 99,917,094 (GRCm39) probably null Het
Cdh8 A T 8: 100,006,290 (GRCm39) I99N probably damaging Het
Cdr2 G A 7: 120,557,268 (GRCm39) P419L probably benign Het
Cds1 T A 5: 101,960,416 (GRCm39) I289K possibly damaging Het
Cherp G A 8: 73,221,615 (GRCm39) T394I probably damaging Het
Cyp4f17 T G 17: 32,742,993 (GRCm39) I222S possibly damaging Het
Dcc A G 18: 71,511,788 (GRCm39) S856P probably benign Het
Dcp1a C T 14: 30,235,032 (GRCm39) T221I probably benign Het
Ddx10 A G 9: 53,118,845 (GRCm39) S475P probably damaging Het
Dennd5b G T 6: 148,928,896 (GRCm39) A759E probably damaging Het
Disp2 G A 2: 118,623,042 (GRCm39) G1258D probably damaging Het
Fhdc1 A T 3: 84,356,111 (GRCm39) D444E probably damaging Het
Fhod1 T C 8: 106,074,421 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,800 (GRCm39) K8R probably benign Het
Gk5 C T 9: 96,015,508 (GRCm39) T108I possibly damaging Het
Gm8214 C A 1: 183,414,129 (GRCm39) noncoding transcript Het
Gnl1 A T 17: 36,298,638 (GRCm39) I434F probably damaging Het
Golga2 T C 2: 32,196,588 (GRCm39) Y986H probably damaging Het
Gpr21 T C 2: 37,407,550 (GRCm39) V32A probably benign Het
Grb14 A T 2: 64,805,899 (GRCm39) probably null Het
H6pd A T 4: 150,080,388 (GRCm39) F144L probably damaging Het
Hunk A G 16: 90,229,448 (GRCm39) Y27C probably damaging Het
Ints7 C T 1: 191,328,396 (GRCm39) T223M possibly damaging Het
Kcnmb2 T C 3: 32,233,152 (GRCm39) probably null Het
Lilra6 A T 7: 3,918,066 (GRCm39) L26H probably benign Het
Mc4r A T 18: 66,992,918 (GRCm39) V65E probably damaging Het
Mgam G A 6: 40,646,797 (GRCm39) G708R probably damaging Het
Mllt6 A G 11: 97,563,395 (GRCm39) D326G probably benign Het
Myo7a A T 7: 97,722,331 (GRCm39) V1198D probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Nlrp4b G C 7: 10,449,266 (GRCm39) V123L probably benign Het
Ntpcr T A 8: 126,472,141 (GRCm39) L150Q probably damaging Het
Obscn C T 11: 58,997,163 (GRCm39) E1513K probably damaging Het
Ola1 T C 2: 72,987,099 (GRCm39) K178E possibly damaging Het
Opalin T C 19: 41,056,070 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,541 (GRCm39) N284S probably damaging Het
Or13a20 A T 7: 140,232,419 (GRCm39) I176F probably damaging Het
Or2ad1 C T 13: 21,326,934 (GRCm39) V98I probably benign Het
Or2w2 C T 13: 21,757,711 (GRCm39) G305D probably damaging Het
Or3a10 A T 11: 73,935,786 (GRCm39) F105I probably damaging Het
Or51ah3 C T 7: 103,209,773 (GRCm39) P30S probably benign Het
Or52ae9 T C 7: 103,390,028 (GRCm39) M140V probably benign Het
Or52e15 A T 7: 104,645,315 (GRCm39) F265L possibly damaging Het
Or5p62 A G 7: 107,771,090 (GRCm39) V287A probably benign Het
Or7a35 T C 10: 78,853,159 (GRCm39) M1T probably null Het
P2ry12 A G 3: 59,125,199 (GRCm39) F159L probably benign Het
Paqr7 T C 4: 134,234,592 (GRCm39) probably null Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh1 T C 18: 38,322,977 (GRCm39) D952G probably damaging Het
Pde6c T C 19: 38,140,146 (GRCm39) S336P possibly damaging Het
Pgk2 T C 17: 40,519,398 (GRCm39) D10G probably benign Het
Phf20l1 A G 15: 66,504,674 (GRCm39) T771A probably damaging Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Plekhm1 A G 11: 103,285,682 (GRCm39) L251P probably damaging Het
Prex2 A T 1: 11,270,179 (GRCm39) N1288I probably benign Het
Sarnp T C 10: 128,669,191 (GRCm39) L16P probably damaging Het
Scgb3a2 T C 18: 43,900,033 (GRCm39) probably benign Het
Scn11a A T 9: 119,584,148 (GRCm39) I1489N probably damaging Het
Scn3a A T 2: 65,302,729 (GRCm39) L1239Q probably damaging Het
Shisa9 T C 16: 12,085,521 (GRCm39) S377P probably benign Het
Slc22a30 T A 19: 8,313,136 (GRCm39) T550S probably damaging Het
Slc25a11 T C 11: 70,535,651 (GRCm39) T296A probably benign Het
Slc35f1 T A 10: 52,938,532 (GRCm39) probably null Het
Slc6a13 A G 6: 121,311,811 (GRCm39) E396G probably damaging Het
Spata31d1c T C 13: 65,183,985 (GRCm39) I509T probably benign Het
Srsf9 C A 5: 115,465,481 (GRCm39) Y9* probably null Het
Tasor2 T C 13: 3,634,759 (GRCm39) T683A possibly damaging Het
Tbx20 T C 9: 24,636,795 (GRCm39) I431V probably benign Het
Tespa1 G A 10: 130,184,119 (GRCm39) G67S probably benign Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Trip12 A T 1: 84,708,342 (GRCm39) F1739I probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 G A 17: 31,187,524 (GRCm39) R196H probably damaging Het
Vezf1 G T 11: 87,972,447 (GRCm39) M269I probably benign Het
Vmn1r35 A T 6: 66,656,550 (GRCm39) M40K probably benign Het
Vmn1r9 G T 6: 57,048,300 (GRCm39) C125F probably benign Het
Vmn2r12 C A 5: 109,239,594 (GRCm39) G323V probably benign Het
Vmn2r79 A T 7: 86,651,555 (GRCm39) H318L probably benign Het
Zfhx3 T A 8: 109,520,167 (GRCm39) S430T probably benign 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
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
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'- GTGCCTCCTGATACCACACTCAAG -3'
(R):5'- TAACACTGAAGGACACTGCTCGCTG -3'

Sequencing Primer
(F):5'- TAGAGAAGGTAGCCTCCCTTG -3'
(R):5'- TGCAGCACTTAGGGACAGAAC -3'
Posted On 2014-05-23