Incidental Mutation 'IGL01316:Parp1'
ID 73865
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 # IGL01316
Quality Score
Status
Chromosome 1
Chromosomal Location 180396456-180428564 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 180420500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
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: ENSMUST00000191639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192411
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,935,404 (GRCm39) V326A probably damaging Het
Aldh1l1 A G 6: 90,575,362 (GRCm39) D883G probably damaging Het
Ankk1 A G 9: 49,331,784 (GRCm39) probably benign Het
Cacna1s T C 1: 136,046,702 (GRCm39) V1796A probably benign Het
Ccdc186 A C 19: 56,801,845 (GRCm39) C91G probably benign Het
Clec5a T C 6: 40,559,196 (GRCm39) T63A probably benign Het
Cyp3a11 T A 5: 145,791,961 (GRCm39) K477N possibly damaging Het
Dram2 T A 3: 106,480,296 (GRCm39) V116E possibly damaging Het
Dram2 T C 3: 106,478,950 (GRCm39) Y181H probably benign Het
Eps15l1 A T 8: 73,143,258 (GRCm39) F184L possibly damaging Het
Greb1 T A 12: 16,748,587 (GRCm39) H1102L probably benign Het
Inpp5f G A 7: 128,292,430 (GRCm39) probably benign Het
Kcng1 T C 2: 168,110,960 (GRCm39) N68S probably damaging Het
Klhl41 A G 2: 69,505,068 (GRCm39) D457G probably benign Het
Krt1c T C 15: 101,719,646 (GRCm39) R675G probably benign Het
Med13l T A 5: 118,900,846 (GRCm39) V2200D probably damaging Het
Mme T A 3: 63,247,580 (GRCm39) probably benign Het
Nexn A T 3: 151,952,870 (GRCm39) F283L probably benign Het
Noxa1 T C 2: 24,976,023 (GRCm39) D389G probably benign Het
Or2n1c A G 17: 38,519,388 (GRCm39) N84S probably damaging Het
Or7g21 A G 9: 19,032,718 (GRCm39) I156V probably benign Het
Pirt T C 11: 66,816,772 (GRCm39) S28P probably damaging Het
Ros1 A G 10: 51,963,975 (GRCm39) probably null Het
Sdk2 T C 11: 113,758,791 (GRCm39) T478A probably benign Het
Secisbp2 T C 13: 51,808,552 (GRCm39) S106P probably benign Het
Shroom1 C T 11: 53,356,385 (GRCm39) A416V probably damaging Het
Ski C T 4: 155,306,143 (GRCm39) A279T probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tab2 A G 10: 7,800,468 (GRCm39) V28A probably damaging Het
Tmem126a G A 7: 90,101,927 (GRCm39) P91S probably damaging Het
Ucma T C 2: 4,986,042 (GRCm39) probably benign Het
Other mutations in Parp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Parp1 APN 1 180,417,145 (GRCm39) missense probably damaging 0.99
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
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 2013-10-07