Incidental Mutation 'IGL03328:Parp1'
ID 416770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp1
Ensembl Gene ENSMUSG00000026496
Gene Name poly (ADP-ribose) polymerase family, member 1
Synonyms 5830444G22Rik, sPARP-1, PARP, Adprt1, parp-1, Adprp
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # IGL03328
Quality Score
Status
Chromosome 1
Chromosomal Location 180396456-180428564 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 180427155 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 benign
Transcript: ENSMUST00000027777
SMART Domains Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496

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 benign
Transcript: ENSMUST00000195560
Coding Region Coverage
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S 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
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
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
Posted On 2016-08-02