Incidental Mutation 'R3430:Parp3'
ID 268075
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 040648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3430 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106347521-106354148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106351922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 150 (I150K)
Ref Sequence ENSEMBL: ENSMUSP00000117329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000067218] [ENSMUST00000112479] [ENSMUST00000123555] [ENSMUST00000125850] [ENSMUST00000156426] [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: I150K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: I150K

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: I150K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: I150K

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: I150K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: I150K

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: ENSMUST00000125850
AA Change: I150K

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119244
Gene: ENSMUSG00000023249
AA Change: I150K

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145396
Predicted Effect probably damaging
Transcript: ENSMUST00000156426
AA Change: I150K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117329
Gene: ENSMUSG00000023249
AA Change: I150K

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: ENSMUST00000127400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139362
Predicted Effect possibly damaging
Transcript: ENSMUST00000214682
AA Change: I150K

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217303
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (67/67)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 C A 19: 56,904,238 (GRCm39) R683L probably damaging Het
Ahnak A G 19: 8,984,322 (GRCm39) I1869V probably benign Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arhgef19 T C 4: 140,984,111 (GRCm39) L777P probably benign Het
Atf7ip A G 6: 136,552,322 (GRCm39) probably benign Het
Bhmt T C 13: 93,763,855 (GRCm39) E62G probably damaging Het
Bpifa6 A G 2: 153,831,171 (GRCm39) I246V probably benign Het
Btbd10 T A 7: 112,951,016 (GRCm39) R25* probably null Het
Ccdc88a T A 11: 29,398,033 (GRCm39) D255E probably damaging Het
Chd7 T C 4: 8,844,517 (GRCm39) V1542A probably damaging Het
Cimip1 T C 2: 173,370,066 (GRCm39) Y114H possibly damaging Het
Col12a1 T A 9: 79,587,593 (GRCm39) T1183S probably benign Het
Col20a1 T A 2: 180,655,078 (GRCm39) L1145* probably null Het
Dchs1 A G 7: 105,405,711 (GRCm39) V2391A possibly damaging Het
Dgat2 A G 7: 98,806,300 (GRCm39) V299A probably benign Het
Dmxl2 T A 9: 54,384,745 (GRCm39) N94I possibly damaging Het
Dnah6 G A 6: 73,098,797 (GRCm39) S2034L possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Filip1 A T 9: 79,760,952 (GRCm39) M194K probably damaging Het
Fut1 T C 7: 45,268,798 (GRCm39) F196L probably damaging Het
Gm10323 A C 13: 67,002,888 (GRCm39) W17G probably damaging Het
Grin3a C A 4: 49,792,534 (GRCm39) V400L probably benign Het
Htr3a T C 9: 48,818,688 (GRCm39) N82S probably benign Het
Il23r A C 6: 67,429,458 (GRCm39) S295A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama5 T C 2: 179,838,110 (GRCm39) K869E probably benign Het
Lce1d A T 3: 92,593,037 (GRCm39) probably benign Het
Lkaaear1 T C 2: 181,339,324 (GRCm39) D42G probably benign Het
Mapk8ip2 A G 15: 89,341,485 (GRCm39) E232G possibly damaging Het
Marf1 A G 16: 13,958,041 (GRCm39) probably benign Het
Mpeg1 A T 19: 12,440,492 (GRCm39) H650L probably benign Het
Nfib T C 4: 82,416,532 (GRCm39) I168V possibly damaging Het
Or1e29 A T 11: 73,667,365 (GRCm39) S263T probably damaging Het
Or2b7 A T 13: 21,739,975 (GRCm39) C72* probably null Het
Or4c29 C T 2: 88,739,810 (GRCm39) R309Q probably benign Het
Or4e5 A G 14: 52,727,882 (GRCm39) F180L possibly damaging Het
Or8b3b A T 9: 38,584,435 (GRCm39) F102I probably damaging Het
Otx2 T A 14: 48,896,254 (GRCm39) K260M probably damaging Het
P2ry12 C T 3: 59,125,448 (GRCm39) D76N probably damaging Het
Prex2 T G 1: 11,220,078 (GRCm39) I683S possibly damaging Het
Prss34 A T 17: 25,518,078 (GRCm39) K86I probably benign Het
Ptpn20 T A 14: 33,336,485 (GRCm39) V108D possibly damaging Het
Rlf A G 4: 121,007,729 (GRCm39) L417P probably benign Het
Rsad2 T C 12: 26,506,418 (GRCm39) M1V probably null Het
S1pr5 A G 9: 21,156,378 (GRCm39) V16A probably benign Het
Scn7a AT ATT 2: 66,531,239 (GRCm39) probably null Het
Serpinb3b A T 1: 107,082,425 (GRCm39) S280T probably benign Het
Sh3d21 A G 4: 126,056,625 (GRCm39) S66P probably benign Het
Sh3yl1 T C 12: 31,009,841 (GRCm39) S253P probably benign Het
Smarca2 A G 19: 26,668,749 (GRCm39) E916G probably damaging Het
Sptbn1 A G 11: 30,169,686 (GRCm39) I14T possibly damaging Het
Supt16 A T 14: 52,412,816 (GRCm39) M559K probably benign Het
Tas1r2 A G 4: 139,396,886 (GRCm39) T742A probably damaging Het
Tbc1d5 T C 17: 51,107,156 (GRCm39) K467E probably damaging Het
Tet3 A G 6: 83,380,401 (GRCm39) V589A probably damaging Het
Tmem131 A G 1: 36,847,902 (GRCm39) probably benign Het
Tmtc3 A G 10: 100,283,437 (GRCm39) F706S probably benign Het
Tsku T C 7: 98,001,746 (GRCm39) N195S probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r85 T A 10: 130,254,758 (GRCm39) H642L probably damaging Het
Zfc3h1 A G 10: 115,246,428 (GRCm39) 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
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
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'- TACACCTGGGGAGATAAGGC -3'
(R):5'- AAAGAGCTGGCTTCGTCTG -3'

Sequencing Primer
(F):5'- TGGGGAGATAAGGCCTGCTC -3'
(R):5'- AATCTTGCTGGTGGACACAC -3'
Posted On 2015-02-18