|Institutional Source||Beutler Lab|
|Gene Name||poly (ADP-ribose) polymerase family, member 1|
|Synonyms||Adprp, 5830444G22Rik, PARP, sPARP-1, parp-1, Adprt1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6918 (G1)|
|Chromosomal Location||180568924-180601254 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 180588670 bp|
|Amino Acid Change||Valine to Isoleucine at position 545 (V545I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027777 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027777]|
|Predicted Effect||possibly damaging
AA Change: V545I
PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: V545I
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
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||
|Other mutations in Parp1||
(F):5'- GCACCCCAAGAGATTAGGAG -3'
(R):5'- TGAAGGTTCCTCTTGCTTCAG -3'
(F):5'- GATATCTCCAGTCAGTGTAGCCAG -3'
(R):5'- TTGCTTCAGGCCCTGCAG -3'