Incidental Mutation 'R2990:Parp2'
ID 257892
Institutional Source Beutler Lab
Gene Symbol Parp2
Ensembl Gene ENSMUSG00000036023
Gene Name poly (ADP-ribose) polymerase family, member 2
Synonyms Adprtl2, Aspartl2, Adprt2, C78626, PARP-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.419) question?
Stock # R2990 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 51045347-51058758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51054457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 203 (T203A)
Ref Sequence ENSEMBL: ENSMUSP00000048877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036126] [ENSMUST00000227810]
AlphaFold O88554
PDB Structure CRYSTAL STRUCTURE OF THE CATALYTIC FRAGMENT OF MURINE POLY (ADP-RIBOSE) POLYMERASE-2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000036126
AA Change: T203A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: T203A

DomainStartEndE-ValueType
WGR 95 175 1.17e-35 SMART
Pfam:PARP_reg 208 338 1.4e-49 PFAM
Pfam:PARP 341 553 1.8e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226880
Predicted Effect probably benign
Transcript: ENSMUST00000227810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228872
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals are sensitive to gamma radiation. Epithelial crypt degeneration and DNA repair deficiency is apparent following radiation-induced injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cul7 C G 17: 46,962,526 (GRCm39) D52E probably benign Het
Eipr1 C T 12: 28,909,267 (GRCm39) T178I probably benign Het
Fzd1 A G 5: 4,805,758 (GRCm39) V608A probably damaging Het
Gimap3 G T 6: 48,742,785 (GRCm39) F48L probably damaging Het
Itfg1 T C 8: 86,561,678 (GRCm39) T152A possibly damaging Het
Katnbl1 G T 2: 112,234,585 (GRCm39) K22N probably damaging Het
Lipm A G 19: 34,093,886 (GRCm39) I268V probably benign Het
Mapk8ip3 T C 17: 25,124,266 (GRCm39) I516V probably benign Het
Myo9a T C 9: 59,832,172 (GRCm39) L2567P possibly damaging Het
Npy A G 6: 49,804,492 (GRCm39) E71G possibly damaging Het
Rprd1a A C 18: 24,639,896 (GRCm39) L262V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Stat5b T C 11: 100,699,188 (GRCm39) probably null Het
Syde2 T C 3: 145,707,252 (GRCm39) F664S probably damaging Het
Tenm4 G T 7: 96,542,332 (GRCm39) probably null Het
Wapl A G 14: 34,458,665 (GRCm39) N909S probably damaging Het
Other mutations in Parp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02826:Parp2 APN 14 51,052,872 (GRCm39) missense probably benign 0.04
IGL03022:Parp2 APN 14 51,058,553 (GRCm39) missense probably damaging 0.99
IGL03051:Parp2 APN 14 51,056,805 (GRCm39) splice site probably benign
R0110:Parp2 UTSW 14 51,057,130 (GRCm39) missense probably damaging 1.00
R0450:Parp2 UTSW 14 51,057,130 (GRCm39) missense probably damaging 1.00
R0510:Parp2 UTSW 14 51,057,130 (GRCm39) missense probably damaging 1.00
R1442:Parp2 UTSW 14 51,056,732 (GRCm39) critical splice donor site probably null
R1590:Parp2 UTSW 14 51,048,001 (GRCm39) missense probably benign 0.19
R1668:Parp2 UTSW 14 51,058,313 (GRCm39) missense probably benign 0.00
R1806:Parp2 UTSW 14 51,056,836 (GRCm39) missense probably damaging 0.99
R1846:Parp2 UTSW 14 51,052,843 (GRCm39) nonsense probably null
R2029:Parp2 UTSW 14 51,047,543 (GRCm39) missense probably benign 0.14
R3933:Parp2 UTSW 14 51,056,844 (GRCm39) missense probably benign 0.44
R4921:Parp2 UTSW 14 51,056,725 (GRCm39) missense probably damaging 0.99
R6406:Parp2 UTSW 14 51,056,934 (GRCm39) missense probably benign
R6799:Parp2 UTSW 14 51,058,553 (GRCm39) missense probably damaging 0.99
R7105:Parp2 UTSW 14 51,047,521 (GRCm39) frame shift probably null
R7250:Parp2 UTSW 14 51,054,801 (GRCm39) missense probably benign
R7606:Parp2 UTSW 14 51,057,487 (GRCm39) missense probably damaging 1.00
R8040:Parp2 UTSW 14 51,047,630 (GRCm39) missense probably benign
R8523:Parp2 UTSW 14 51,057,247 (GRCm39) critical splice donor site probably null
R9089:Parp2 UTSW 14 51,052,327 (GRCm39) missense probably damaging 1.00
R9203:Parp2 UTSW 14 51,056,850 (GRCm39) missense probably benign 0.32
RF002:Parp2 UTSW 14 51,054,843 (GRCm39) missense probably damaging 1.00
X0019:Parp2 UTSW 14 51,054,556 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCACTGTGAGGGAGCACTAG -3'
(R):5'- GATCCCGTTTCCCTCATGTAGG -3'

Sequencing Primer
(F):5'- CTGTGAGGGAGCACTAGCAAGTC -3'
(R):5'- ACCTTAGCTATCGATGAGACTGC -3'
Posted On 2015-01-11