Incidental Mutation 'R5617:Parp3'
ID 439585
Institutional Source Beutler Lab
Gene Symbol Parp3
Ensembl Gene ENSMUSG00000023249
Gene Name poly (ADP-ribose) polymerase family, member 3
Synonyms A930002C11Rik, PARP-3, Adprt3, Adprtl3
MMRRC Submission 043276-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5617 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106347521-106354148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106351704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 170 (V170M)
Ref Sequence ENSEMBL: ENSMUSP00000149572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000067218] [ENSMUST00000112479] [ENSMUST00000123555] [ENSMUST00000156426] [ENSMUST00000214682] [ENSMUST00000125850]
AlphaFold Q3ULW8
Predicted Effect probably benign
Transcript: ENSMUST00000047721
SMART Domains Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
low complexity region 47 57 N/A INTRINSIC
coiled coil region 61 102 N/A INTRINSIC
WD40 135 174 1.15e-4 SMART
WD40 177 227 3.09e-5 SMART
WD40 230 269 2.42e-7 SMART
WD40 272 311 9.24e-4 SMART
WD40 313 351 2.4e-2 SMART
WD40 354 404 4.6e0 SMART
Blast:WD40 412 451 1e-15 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000067218
AA Change: V170M

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: V170M

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Pfam:PARP_reg 176 315 8.7e-39 PFAM
Pfam:PARP 317 528 7.1e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112479
AA Change: V175M

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: V175M

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Pfam:PARP_reg 182 319 1.3e-42 PFAM
Pfam:PARP 322 533 7.3e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123464
Predicted Effect possibly damaging
Transcript: ENSMUST00000123555
AA Change: V170M

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: V170M

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Pfam:PARP_reg 176 315 8.7e-39 PFAM
Pfam:PARP 317 528 7.1e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125630
Predicted Effect possibly damaging
Transcript: ENSMUST00000156426
AA Change: V175M

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117329
Gene: ENSMUSG00000023249
AA Change: V175M

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
PDB:4L7U|A 179 202 6e-7 PDB
SCOP:d1a26_1 182 202 5e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145396
Predicted Effect possibly damaging
Transcript: ENSMUST00000214682
AA Change: V170M

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000125850
SMART Domains Protein: ENSMUSP00000119244
Gene: ENSMUSG00000023249

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217303
Meta Mutation Damage Score 0.1111 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,227,891 (GRCm39) L645F probably benign Het
Acss3 T C 10: 106,787,851 (GRCm39) Y522C probably damaging Het
Asb18 A G 1: 89,882,184 (GRCm39) V118A possibly damaging Het
Aste1 T A 9: 105,275,034 (GRCm39) C8S probably benign Het
Atp10a A G 7: 58,453,423 (GRCm39) S834G probably benign Het
Cdh18 A G 15: 23,226,854 (GRCm39) D105G probably damaging Het
Cenpb T C 2: 131,020,934 (GRCm39) E288G probably damaging Het
Clcnka C T 4: 141,116,628 (GRCm39) G541D probably null Het
Dctn3 T C 4: 41,716,407 (GRCm39) I134V possibly damaging Het
Dennd4b T C 3: 90,182,933 (GRCm39) S917P probably benign Het
Fam135b A T 15: 71,493,865 (GRCm39) D21E probably damaging Het
Fam174a T C 1: 95,241,972 (GRCm39) V144A probably damaging Het
Fbxo38 A G 18: 62,639,042 (GRCm39) Y1087H probably damaging Het
Gm7275 A T 16: 47,894,527 (GRCm39) noncoding transcript Het
Gm9271 G T 7: 39,013,076 (GRCm39) noncoding transcript Het
Grm2 T C 9: 106,528,275 (GRCm39) probably null Het
Htt T A 5: 35,028,150 (GRCm39) V1802D possibly damaging Het
Ighv1-75 C A 12: 115,797,874 (GRCm39) G16V probably benign Het
Krt78 G A 15: 101,856,044 (GRCm39) T589I probably damaging Het
Lama3 T C 18: 12,631,993 (GRCm39) probably benign Het
Lbr A T 1: 181,656,467 (GRCm39) V227D probably benign Het
Lsamp T C 16: 41,954,786 (GRCm39) V211A probably damaging Het
Map3k19 G A 1: 127,750,703 (GRCm39) R883C probably damaging Het
Marchf8 A C 6: 116,380,481 (GRCm39) I111L possibly damaging Het
Mrps10 T A 17: 47,689,167 (GRCm39) M187K probably benign Het
Ncdn G A 4: 126,638,840 (GRCm39) R660C probably damaging Het
Notum A T 11: 120,547,171 (GRCm39) Y332* probably null Het
Nr1h5 A T 3: 102,855,145 (GRCm39) L319I probably damaging Het
Or51q1 A T 7: 103,628,921 (GRCm39) H180L possibly damaging Het
Or8k35 T A 2: 86,424,345 (GRCm39) I276L probably benign Het
Osbpl5 T C 7: 143,246,684 (GRCm39) D765G possibly damaging Het
Pcdh15 A G 10: 74,471,504 (GRCm39) probably benign Het
Pcdha9 T G 18: 37,131,869 (GRCm39) S313A probably benign Het
Pfkm A G 15: 98,020,107 (GRCm39) R201G possibly damaging Het
Pgm5 G A 19: 24,727,765 (GRCm39) R375* probably null Het
Phactr2 A G 10: 13,349,809 (GRCm39) S72P possibly damaging Het
Plaat1 A T 16: 29,039,162 (GRCm39) R81* probably null Het
Plec A G 15: 76,058,732 (GRCm39) L3600P probably damaging Het
Pou6f1 G A 15: 100,483,874 (GRCm39) T208M possibly damaging Het
Rabep1 C T 11: 70,808,355 (GRCm39) S394L probably damaging Het
Ranbp2 T G 10: 58,301,489 (GRCm39) F687C probably damaging Het
Ranbp6 A G 19: 29,789,863 (GRCm39) F163S probably damaging Het
Rcor3 T C 1: 191,804,430 (GRCm39) N240D probably benign Het
Samd13 C A 3: 146,352,065 (GRCm39) K95N probably benign Het
Slc25a17 G T 15: 81,244,975 (GRCm39) probably benign Het
Slfn8 G T 11: 82,895,547 (GRCm39) H420N probably benign Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Stim2 G A 5: 54,267,075 (GRCm39) E21K probably damaging Het
Tmem163 A G 1: 127,479,067 (GRCm39) Y151H possibly damaging Het
Trio A G 15: 27,902,834 (GRCm39) I209T probably benign Het
Tubal3 T A 13: 3,983,432 (GRCm39) L404H probably damaging Het
Ubqln3 A G 7: 103,791,640 (GRCm39) F150S probably damaging Het
Ubr5 T C 15: 38,030,901 (GRCm39) S425G possibly damaging Het
Vmn2r52 T A 7: 9,904,861 (GRCm39) H326L probably damaging Het
Other mutations in Parp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Parp3 APN 9 106,348,586 (GRCm39) missense probably benign
IGL00827:Parp3 APN 9 106,351,605 (GRCm39) missense probably benign 0.17
IGL02683:Parp3 APN 9 106,350,384 (GRCm39) missense possibly damaging 0.84
R0050:Parp3 UTSW 9 106,348,600 (GRCm39) missense possibly damaging 0.81
R0110:Parp3 UTSW 9 106,348,995 (GRCm39) missense possibly damaging 0.81
R0320:Parp3 UTSW 9 106,353,011 (GRCm39) missense possibly damaging 0.76
R0510:Parp3 UTSW 9 106,348,995 (GRCm39) missense possibly damaging 0.81
R0989:Parp3 UTSW 9 106,350,281 (GRCm39) splice site probably null
R1170:Parp3 UTSW 9 106,353,204 (GRCm39) intron probably benign
R1919:Parp3 UTSW 9 106,352,316 (GRCm39) missense possibly damaging 0.92
R1935:Parp3 UTSW 9 106,351,931 (GRCm39) missense probably damaging 1.00
R1936:Parp3 UTSW 9 106,351,931 (GRCm39) missense probably damaging 1.00
R1958:Parp3 UTSW 9 106,352,021 (GRCm39) splice site probably null
R2188:Parp3 UTSW 9 106,353,051 (GRCm39) missense probably damaging 0.99
R2919:Parp3 UTSW 9 106,350,924 (GRCm39) missense possibly damaging 0.84
R3014:Parp3 UTSW 9 106,348,514 (GRCm39) missense possibly damaging 0.66
R3429:Parp3 UTSW 9 106,351,922 (GRCm39) missense probably damaging 0.99
R3430:Parp3 UTSW 9 106,351,922 (GRCm39) missense probably damaging 0.99
R3618:Parp3 UTSW 9 106,352,262 (GRCm39) missense possibly damaging 0.81
R3980:Parp3 UTSW 9 106,351,267 (GRCm39) missense probably damaging 1.00
R4840:Parp3 UTSW 9 106,350,308 (GRCm39) missense probably damaging 1.00
R6015:Parp3 UTSW 9 106,351,481 (GRCm39) missense possibly damaging 0.72
R6591:Parp3 UTSW 9 106,350,891 (GRCm39) missense probably benign
R6691:Parp3 UTSW 9 106,350,891 (GRCm39) missense probably benign
R7403:Parp3 UTSW 9 106,352,052 (GRCm39) missense probably benign 0.35
R7612:Parp3 UTSW 9 106,351,393 (GRCm39) missense probably benign 0.03
R8330:Parp3 UTSW 9 106,352,069 (GRCm39) critical splice acceptor site probably null
R8396:Parp3 UTSW 9 106,351,447 (GRCm39) missense probably benign 0.00
R8733:Parp3 UTSW 9 106,353,150 (GRCm39) missense probably benign 0.01
R9023:Parp3 UTSW 9 106,348,490 (GRCm39) missense probably damaging 1.00
R9231:Parp3 UTSW 9 106,350,891 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAGCTTTCCCAAGGGCATC -3'
(R):5'- CACTTATAGAAGTCCAGGGAGAAGC -3'

Sequencing Primer
(F):5'- AAGGGCATCTTCTTCACATCTGGG -3'
(R):5'- CCAAGAGGCTGTAGTGAAGGTG -3'
Posted On 2016-11-08