Incidental Mutation 'R4921:Parp2'
ID 378629
Institutional Source Beutler Lab
Gene Symbol Parp2
Ensembl Gene ENSMUSG00000036023
Gene Name poly (ADP-ribose) polymerase family, member 2
Synonyms PARP-2, Adprtl2, C78626, Aspartl2, Adprt2
MMRRC Submission 042523-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # R4921 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 50807841-50821301 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 50819268 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 310 (L310I)
Ref Sequence ENSEMBL: ENSMUSP00000048877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006444] [ENSMUST00000036126] [ENSMUST00000227810]
AlphaFold O88554
Predicted Effect probably benign
Transcript: ENSMUST00000006444
SMART Domains Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281

Pfam:TEP1_N 1 29 2.8e-20 PFAM
Pfam:TEP1_N 31 59 1.4e-20 PFAM
Pfam:TEP1_N 61 89 3.1e-20 PFAM
Pfam:TEP1_N 91 119 3e-20 PFAM
low complexity region 195 207 N/A INTRINSIC
low complexity region 211 229 N/A INTRINSIC
Pfam:TROVE 230 685 3.2e-136 PFAM
Pfam:DUF4062 909 1020 2.4e-22 PFAM
Pfam:NACHT 1171 1346 9.2e-38 PFAM
low complexity region 1393 1405 N/A INTRINSIC
low complexity region 1622 1641 N/A INTRINSIC
WD40 1673 1711 2.98e-1 SMART
WD40 1714 1752 5.33e0 SMART
WD40 1755 1794 1.52e-4 SMART
WD40 1797 1835 3.27e-4 SMART
WD40 1838 1877 3.09e-1 SMART
WD40 1880 1919 2.24e-2 SMART
WD40 1925 1962 4.95e0 SMART
WD40 1968 2003 2.29e1 SMART
WD40 2008 2045 1.72e0 SMART
WD40 2058 2097 3.89e-11 SMART
WD40 2103 2142 3.93e-7 SMART
WD40 2145 2182 4.38e-5 SMART
WD40 2184 2232 1.24e0 SMART
WD40 2235 2273 1.14e-3 SMART
WD40 2275 2315 4.46e-1 SMART
Blast:WD40 2316 2353 4e-12 BLAST
WD40 2546 2583 6.79e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000036126
AA Change: L310I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: L310I

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 probably benign
Transcript: ENSMUST00000226222
Predicted Effect probably benign
Transcript: ENSMUST00000226430
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: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,737,796 (GRCm38) N65K probably benign Het
Abcc9 T C 6: 142,590,436 (GRCm38) Y1524C probably benign Het
Acap1 A G 11: 69,887,193 (GRCm38) I102T probably damaging Het
Acvr2a T C 2: 48,893,541 (GRCm38) V284A possibly damaging Het
Adam3 T C 8: 24,684,614 (GRCm38) M712V probably benign Het
Adck1 T C 12: 88,441,138 (GRCm38) V213A probably benign Het
Adgrl3 G T 5: 81,512,110 (GRCm38) W242L probably damaging Het
Alk T C 17: 71,904,315 (GRCm38) T857A probably benign Het
Alms1 A G 6: 85,628,546 (GRCm38) T2393A probably benign Het
Ank3 C T 10: 70,002,109 (GRCm38) P240L probably damaging Het
Ankrd35 C A 3: 96,684,824 (GRCm38) L809M possibly damaging Het
Birc6 T A 17: 74,650,099 (GRCm38) L3690Q probably damaging Het
Bmp3 C A 5: 98,872,061 (GRCm38) F114L probably damaging Het
Cage1 G A 13: 38,019,208 (GRCm38) H627Y probably benign Het
Cars1 T C 7: 143,569,475 (GRCm38) D468G probably damaging Het
Ccdc148 T C 2: 58,829,802 (GRCm38) E487G probably damaging Het
Ccdc80 A T 16: 45,118,167 (GRCm38) I746F probably damaging Het
Ccl25 A G 8: 4,353,913 (GRCm38) Q119R possibly damaging Het
Cdh24 C T 14: 54,633,215 (GRCm38) D178N probably damaging Het
Cdk12 A T 11: 98,222,687 (GRCm38) T766S unknown Het
Chst15 T A 7: 132,247,884 (GRCm38) T443S probably benign Het
Cnbp T C 6: 87,845,146 (GRCm38) D125G possibly damaging Het
Cntn2 A T 1: 132,516,032 (GRCm38) V1003E possibly damaging Het
Crct1 A G 3: 93,014,825 (GRCm38) probably benign Het
Dand5 C T 8: 84,816,484 (GRCm38) C121Y probably damaging Het
Dmkn A T 7: 30,771,233 (GRCm38) D382V probably damaging Het
Dnase2b T A 3: 146,593,441 (GRCm38) T86S probably damaging Het
Eef1akmt1 C T 14: 57,550,632 (GRCm38) V90M probably damaging Het
Egfl7 G T 2: 26,590,980 (GRCm38) W168L probably benign Het
Ep400 A G 5: 110,665,810 (GRCm38) C2908R probably damaging Het
Espl1 A G 15: 102,315,241 (GRCm38) K1076E probably damaging Het
Exoc4 A G 6: 33,910,517 (GRCm38) N747D probably benign Het
Fancm T C 12: 65,077,141 (GRCm38) V191A probably benign Het
Fbxo17 A G 7: 28,732,789 (GRCm38) D97G probably benign Het
Fer1l6 G T 15: 58,600,311 (GRCm38) probably null Het
Flt4 T C 11: 49,627,143 (GRCm38) W337R probably damaging Het
Fpr-rs7 T C 17: 20,113,820 (GRCm38) H136R possibly damaging Het
Frem3 T A 8: 80,613,136 (GRCm38) I686N possibly damaging Het
Galnt9 A G 5: 110,577,449 (GRCm38) K84R probably damaging Het
Gfm2 T A 13: 97,175,676 (GRCm38) M760K probably damaging Het
Glis3 T C 19: 28,666,104 (GRCm38) T13A probably damaging Het
H2-K1 A G 17: 33,997,076 (GRCm38) V323A possibly damaging Het
Hbb-bs G A 7: 103,826,720 (GRCm38) A130V probably damaging Het
Herc2 T A 7: 56,229,690 (GRCm38) H4685Q probably benign Het
Ighv5-9-1 C T 12: 113,736,294 (GRCm38) R56H possibly damaging Het
Itgb4 A G 11: 116,006,605 (GRCm38) N1548S probably benign Het
Itpr3 T C 17: 27,098,005 (GRCm38) Y745H probably damaging Het
Kank3 G T 17: 33,817,200 (GRCm38) G14V probably damaging Het
Kif24 G T 4: 41,394,329 (GRCm38) S982Y probably damaging Het
Kifc5b C T 17: 26,921,023 (GRCm38) R53W probably damaging Het
Krt39 A G 11: 99,514,749 (GRCm38) S442P possibly damaging Het
Lcat G A 8: 105,942,442 (GRCm38) P67L possibly damaging Het
Maml2 T C 9: 13,621,175 (GRCm38) S562P probably damaging Het
Map3k8 G A 18: 4,349,124 (GRCm38) R65W possibly damaging Het
Mbd3 G T 10: 80,395,576 (GRCm38) R12S probably damaging Het
Msr1 T C 8: 39,624,251 (GRCm38) E106G possibly damaging Het
Myh4 T A 11: 67,254,028 (GRCm38) L1256Q probably damaging Het
Mypn G A 10: 63,147,936 (GRCm38) T511M possibly damaging Het
Nub1 A T 5: 24,701,469 (GRCm38) N331I probably benign Het
Nup107 A G 10: 117,770,511 (GRCm38) V440A possibly damaging Het
Ofcc1 A G 13: 40,214,517 (GRCm38) F174L probably benign Het
Or10d5 A C 9: 39,950,225 (GRCm38) V182G probably damaging Het
Or52ab2 A T 7: 103,320,543 (GRCm38) N44I probably damaging Het
Or9q2 T C 19: 13,795,465 (GRCm38) I49V probably benign Het
Pcdh20 A G 14: 88,469,726 (GRCm38) V46A probably benign Het
Pcdhgb6 A G 18: 37,743,472 (GRCm38) D411G probably damaging Het
Pkd1l2 A T 8: 117,072,549 (GRCm38) N267K probably damaging Het
Pkd1l2 T C 8: 117,054,885 (GRCm38) E807G probably benign Het
Pramel24 A T 4: 143,728,326 (GRCm38) K398M possibly damaging Het
Rell1 C A 5: 63,936,033 (GRCm38) M126I probably damaging Het
Robo4 G A 9: 37,402,560 (GRCm38) E36K probably benign Het
Rpgrip1l T C 8: 91,261,009 (GRCm38) S807G probably benign Het
Rpl10a T C 17: 28,330,852 (GRCm38) V169A probably benign Het
Rubcn C T 16: 32,847,294 (GRCm38) V166I probably damaging Het
Sall2 T C 14: 52,315,393 (GRCm38) E113G possibly damaging Het
Sars2 T C 7: 28,752,438 (GRCm38) S423P possibly damaging Het
Scaper A G 9: 55,892,235 (GRCm38) I182T probably benign Het
Selp A G 1: 164,141,397 (GRCm38) D522G possibly damaging Het
Sema4b T A 7: 80,198,756 (GRCm38) I35N possibly damaging Het
Sgce A T 6: 4,694,153 (GRCm38) F268I probably damaging Het
Slc14a2 G T 18: 78,192,188 (GRCm38) A258E probably damaging Het
Slc17a9 T C 2: 180,735,949 (GRCm38) Y213H probably benign Het
Slc22a7 T G 17: 46,436,933 (GRCm38) I233L probably benign Het
Slc35f1 A G 10: 53,062,602 (GRCm38) Q210R probably damaging Het
Slc6a21 A G 7: 45,288,310 (GRCm38) E350G possibly damaging Het
Spata21 A T 4: 141,112,091 (GRCm38) D639V probably damaging Het
Svil A G 18: 5,108,631 (GRCm38) D1519G probably damaging Het
Tbccd1 T C 16: 22,841,899 (GRCm38) T56A probably benign Het
Tigit A T 16: 43,662,017 (GRCm38) I118N probably damaging Het
Tlr11 A T 14: 50,362,885 (GRCm38) Q776L possibly damaging Het
Tspan12 A C 6: 21,835,449 (GRCm38) I9S possibly damaging Het
Unc5c T A 3: 141,788,966 (GRCm38) Y347N probably damaging Het
Unk A G 11: 116,054,945 (GRCm38) T481A probably benign Het
Vmn1r192 A C 13: 22,187,480 (GRCm38) V190G probably damaging Het
Vnn3 A T 10: 23,864,575 (GRCm38) M259L probably benign Het
Zan T C 5: 137,408,370 (GRCm38) probably benign Het
Zdhhc6 T C 19: 55,313,210 (GRCm38) H113R probably damaging Het
Other mutations in Parp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02826:Parp2 APN 14 50,815,415 (GRCm38) missense probably benign 0.04
IGL03022:Parp2 APN 14 50,821,096 (GRCm38) missense probably damaging 0.99
IGL03051:Parp2 APN 14 50,819,348 (GRCm38) splice site probably benign
R0110:Parp2 UTSW 14 50,819,673 (GRCm38) missense probably damaging 1.00
R0450:Parp2 UTSW 14 50,819,673 (GRCm38) missense probably damaging 1.00
R0510:Parp2 UTSW 14 50,819,673 (GRCm38) missense probably damaging 1.00
R1442:Parp2 UTSW 14 50,819,275 (GRCm38) critical splice donor site probably null
R1590:Parp2 UTSW 14 50,810,544 (GRCm38) missense probably benign 0.19
R1668:Parp2 UTSW 14 50,820,856 (GRCm38) missense probably benign 0.00
R1806:Parp2 UTSW 14 50,819,379 (GRCm38) missense probably damaging 0.99
R1846:Parp2 UTSW 14 50,815,386 (GRCm38) nonsense probably null
R2029:Parp2 UTSW 14 50,810,086 (GRCm38) missense probably benign 0.14
R2990:Parp2 UTSW 14 50,817,000 (GRCm38) missense probably benign
R3933:Parp2 UTSW 14 50,819,387 (GRCm38) missense probably benign 0.44
R6406:Parp2 UTSW 14 50,819,477 (GRCm38) missense probably benign
R6799:Parp2 UTSW 14 50,821,096 (GRCm38) missense probably damaging 0.99
R7105:Parp2 UTSW 14 50,810,064 (GRCm38) frame shift probably null
R7250:Parp2 UTSW 14 50,817,344 (GRCm38) missense probably benign
R7606:Parp2 UTSW 14 50,820,030 (GRCm38) missense probably damaging 1.00
R8040:Parp2 UTSW 14 50,810,173 (GRCm38) missense probably benign
R8523:Parp2 UTSW 14 50,819,790 (GRCm38) critical splice donor site probably null
R9089:Parp2 UTSW 14 50,814,870 (GRCm38) missense probably damaging 1.00
R9203:Parp2 UTSW 14 50,819,393 (GRCm38) missense probably benign 0.32
RF002:Parp2 UTSW 14 50,817,386 (GRCm38) missense probably damaging 1.00
X0019:Parp2 UTSW 14 50,817,099 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-15