Incidental Mutation 'R4529:Parp1'
ID 333020
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 041592-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R4529 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 180396456-180428564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180418877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 679 (V679E)
Ref Sequence ENSEMBL: ENSMUSP00000027777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027777]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027777
AA Change: V679E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: V679E

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,727,519 (GRCm39) Y483C possibly damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Aldh1a3 T C 7: 66,051,742 (GRCm39) N404D probably benign Het
Ankrd2 A T 19: 42,032,240 (GRCm39) I231F probably benign Het
Apba1 A G 19: 23,913,899 (GRCm39) N641D probably damaging Het
C1qbp T C 11: 70,869,550 (GRCm39) T178A probably benign Het
Chtf18 T C 17: 25,939,592 (GRCm39) Y64C probably damaging Het
Cyp1a1 A G 9: 57,608,962 (GRCm39) H281R probably benign Het
Ehmt2 A G 17: 35,132,707 (GRCm39) I1235V probably damaging Het
Fcamr A G 1: 130,732,313 (GRCm39) H44R probably damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm5460 A C 14: 33,767,769 (GRCm39) D459A probably damaging Het
H2-Q6 C T 17: 35,644,820 (GRCm39) T203I probably null Het
Inmt T C 6: 55,148,012 (GRCm39) M206V probably benign Het
Khdc3 T C 9: 73,011,301 (GRCm39) S360P possibly damaging Het
Lin54 G A 5: 100,594,419 (GRCm39) T582I possibly damaging Het
Ltbp1 T G 17: 75,458,355 (GRCm39) V312G probably benign Het
Nlrp9a T C 7: 26,270,832 (GRCm39) L899P probably damaging Het
Or6c1b T C 10: 129,273,287 (GRCm39) V202A probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pappa A G 4: 65,149,419 (GRCm39) I920V probably benign Het
Pla2g4f C T 2: 120,131,100 (GRCm39) R785Q probably damaging Het
Plbd1 T A 6: 136,628,823 (GRCm39) I82F probably benign Het
Plekhm3 A G 1: 64,976,984 (GRCm39) V162A probably benign Het
Plin4 A G 17: 56,411,274 (GRCm39) L919P probably damaging Het
Plxna4 C T 6: 32,473,831 (GRCm39) probably null Het
Pou3f3 C A 1: 42,737,714 (GRCm39) T470K probably benign Het
Prss38 T C 11: 59,264,325 (GRCm39) Y214C probably damaging Het
Retreg1 T A 15: 25,968,600 (GRCm39) Y109N probably damaging Het
Slco1c1 A G 6: 141,500,907 (GRCm39) Y413C probably damaging Het
Stk32a T C 18: 43,376,044 (GRCm39) C38R possibly damaging Het
Themis T C 10: 28,658,331 (GRCm39) F453L possibly damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tubgcp3 G T 8: 12,713,932 (GRCm39) L62I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Xpo7 G A 14: 70,906,188 (GRCm39) T986M probably damaging Het
Zfp51 C T 17: 21,684,998 (GRCm39) L538F probably damaging Het
Zfy1 A G Y: 726,511 (GRCm39) L418S possibly 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
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
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'- GCCAGGATTATGCCACACAC -3'
(R):5'- AGTACACTGCATGTCCCAC -3'

Sequencing Primer
(F):5'- GGATTATGCCACACACACTCTCTC -3'
(R):5'- CGACAGTGACTGGGCAAGC -3'
Posted On 2015-08-18