Incidental Mutation 'R2188:Parp3'
ID 237929
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 040190-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2188 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 106347521-106354148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106353051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 42 (R42W)
Ref Sequence ENSEMBL: ENSMUSP00000119244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000067218] [ENSMUST00000112479] [ENSMUST00000123555] [ENSMUST00000156426] [ENSMUST00000125850] [ENSMUST00000214682]
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 probably damaging
Transcript: ENSMUST00000067218
AA Change: R42W

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: R42W

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 probably damaging
Transcript: ENSMUST00000112479
AA Change: R42W

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: R42W

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 probably damaging
Transcript: ENSMUST00000123555
AA Change: R42W

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: R42W

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 probably damaging
Transcript: ENSMUST00000156426
AA Change: R42W

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117329
Gene: ENSMUSG00000023249
AA Change: R42W

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 probably damaging
Transcript: ENSMUST00000125850
AA Change: R42W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119244
Gene: ENSMUSG00000023249
AA Change: R42W

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145396
Predicted Effect probably damaging
Transcript: ENSMUST00000214682
AA Change: R42W

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217303
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,838,367 (GRCm39) L547P probably damaging Het
Arhgap29 A C 3: 121,784,658 (GRCm39) D195A probably damaging Het
Atad3a A T 4: 155,835,976 (GRCm39) I274N probably damaging Het
Ccdc12 G T 9: 110,485,699 (GRCm39) K23N possibly damaging Het
Ccpg1 A G 9: 72,920,388 (GRCm39) T668A probably benign Het
Cdc34b T C 11: 94,632,998 (GRCm39) I66T probably benign Het
Dnah1 A G 14: 31,001,121 (GRCm39) I2408T probably damaging Het
Fam91a1 A C 15: 58,302,512 (GRCm39) N284T probably damaging Het
Gbp2b A T 3: 142,314,040 (GRCm39) E440V probably benign Het
Gm5134 T C 10: 75,831,670 (GRCm39) S370P probably damaging Het
Hmcn2 G A 2: 31,309,947 (GRCm39) A3238T probably benign Het
Hmg20a A G 9: 56,384,584 (GRCm39) E118G possibly damaging Het
Itprid2 T C 2: 79,475,267 (GRCm39) S409P probably benign Het
Kdm5a T A 6: 120,383,601 (GRCm39) F781I possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2d A G 15: 98,737,181 (GRCm39) probably benign Het
Lrp1b T C 2: 41,298,971 (GRCm39) T857A probably benign Het
Mucl2 T A 15: 103,927,840 (GRCm39) N39I probably damaging Het
Myl6 A G 10: 128,328,566 (GRCm39) I27T possibly damaging Het
Ndor1 A T 2: 25,141,765 (GRCm39) probably null Het
Nlrp9a A G 7: 26,264,354 (GRCm39) E758G probably damaging Het
Or52h7 G A 7: 104,213,883 (GRCm39) A152T probably benign Het
Or8u8 A T 2: 86,011,780 (GRCm39) I225N probably damaging Het
Pik3c2g A G 6: 139,798,600 (GRCm39) I495V probably damaging Het
Qrfprl C A 6: 65,418,260 (GRCm39) H143N probably damaging Het
Sdsl C T 5: 120,596,485 (GRCm39) G310S probably damaging Het
Sec24a A G 11: 51,614,411 (GRCm39) L531P probably damaging Het
Slc2a12 C T 10: 22,540,736 (GRCm39) S197F probably benign Het
Snapc1 T A 12: 74,017,001 (GRCm39) I213N probably damaging Het
Srpk1 A T 17: 28,813,163 (GRCm39) I527N probably damaging Het
Steap2 G T 5: 5,723,643 (GRCm39) Y412* probably null Het
Tbk1 A C 10: 121,399,836 (GRCm39) Y329* probably null Het
Tekt5 T C 16: 10,176,189 (GRCm39) E452G probably damaging Het
Tmc5 G T 7: 118,254,178 (GRCm39) C672F probably damaging Het
Trim27 T C 13: 21,367,987 (GRCm39) L201S probably damaging Het
Vil1 A C 1: 74,466,724 (GRCm39) D638A probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Zfp583 C T 7: 6,320,610 (GRCm39) R134H probably benign 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
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
R5617:Parp3 UTSW 9 106,351,704 (GRCm39) missense possibly damaging 0.75
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'- GCAATCCCTGGCTAGAACAG -3'
(R):5'- AGGGCAAATCTGAACGCTCC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAATGAGTTCCAGG -3'
(R):5'- AAATCTGAACGCTCCCTACCTCTTG -3'
Posted On 2014-10-02