Incidental Mutation 'IGL00159:Parp3'
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ID1280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp3
Ensembl Gene ENSMUSG00000023249
Gene Namepoly (ADP-ribose) polymerase family, member 3
SynonymsA930002C11Rik, PARP-3, Adprt3, Adprtl3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00159
Quality Score
Status
Chromosome9
Chromosomal Location106470322-106476949 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 106471387 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 478 (I478T)
Ref Sequence ENSEMBL: ENSMUSP00000123054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067218] [ENSMUST00000112479] [ENSMUST00000123555] [ENSMUST00000125850] [ENSMUST00000156426] [ENSMUST00000214682]
Predicted Effect probably benign
Transcript: ENSMUST00000067218
AA Change: I478T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: I478T

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 benign
Transcript: ENSMUST00000112479
AA Change: I483T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: I483T

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 benign
Transcript: ENSMUST00000123555
AA Change: I478T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: I478T

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 benign
Transcript: ENSMUST00000125850
SMART Domains Protein: ENSMUSP00000119244
Gene: ENSMUSG00000023249

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145396
Predicted Effect probably benign
Transcript: ENSMUST00000156426
SMART Domains Protein: ENSMUSP00000117329
Gene: ENSMUSG00000023249

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 benign
Transcript: ENSMUST00000214682
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik G A 7: 118,797,047 probably null Het
Axin1 A T 17: 26,142,805 D41V possibly damaging Het
BC034090 C A 1: 155,225,451 E718* probably null Het
Cdc123 G T 2: 5,804,935 Q222K probably benign Het
Clip1 A C 5: 123,603,654 V1053G possibly damaging Het
Dock7 T A 4: 99,063,985 E416V probably damaging Het
Dydc1 T C 14: 41,087,413 L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 V732A probably benign Het
Dzip1l T A 9: 99,637,777 L119Q probably damaging Het
Erp27 T A 6: 136,909,502 S178C probably damaging Het
Fbn1 A G 2: 125,397,873 V298A probably benign Het
Fbxo34 A G 14: 47,529,474 H97R probably damaging Het
Gm20521 C T 14: 54,884,622 Q81* probably null Het
Gspt1 T C 16: 11,222,612 M610V probably damaging Het
Herc1 A G 9: 66,437,682 Q1919R possibly damaging Het
Il19 A G 1: 130,935,055 probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lrrk2 A G 15: 91,747,799 K1309E possibly damaging Het
Lurap1 T C 4: 116,137,690 T115A probably damaging Het
Myo18b G T 5: 112,874,131 T465K probably benign Het
Nwd1 A T 8: 72,671,077 D648V probably damaging Het
Olfr272 T G 4: 52,911,618 M59L possibly damaging Het
Olfr520 G A 7: 99,735,317 R58H probably benign Het
Otof T C 5: 30,375,904 Y1527C probably damaging Het
Otop3 G A 11: 115,344,397 C285Y probably damaging Het
Pdzd2 C T 15: 12,457,983 E265K possibly damaging Het
Pik3c2g T C 6: 139,896,125 L634P probably damaging Het
Prkg1 C A 19: 31,302,340 V165L probably benign Het
Riok3 A G 18: 12,148,891 I306V possibly damaging Het
Ror2 T C 13: 53,113,082 D439G probably benign Het
Scn2a T A 2: 65,743,090 I1428N probably damaging Het
Sgcg C T 14: 61,232,475 D146N probably benign Het
Slc16a9 A G 10: 70,282,699 R283G probably benign Het
Sptb T C 12: 76,621,331 D664G probably benign Het
Tmprss3 T A 17: 31,195,008 D54V probably damaging Het
Ttc37 T C 13: 76,143,278 probably null Het
Tubd1 G T 11: 86,565,729 V374F probably benign Het
Vmn2r57 A T 7: 41,428,785 M83K probably benign Het
Vps13c A G 9: 67,945,999 E2458G probably benign Het
Zhx2 A T 15: 57,822,870 E545V probably damaging Het
Other mutations in Parp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Parp3 APN 9 106474406 missense probably benign 0.17
IGL02683:Parp3 APN 9 106473185 missense possibly damaging 0.84
R0050:Parp3 UTSW 9 106471401 missense possibly damaging 0.81
R0110:Parp3 UTSW 9 106471796 missense possibly damaging 0.81
R0320:Parp3 UTSW 9 106475812 missense possibly damaging 0.76
R0510:Parp3 UTSW 9 106471796 missense possibly damaging 0.81
R0989:Parp3 UTSW 9 106473082 splice site probably null
R1170:Parp3 UTSW 9 106476005 intron probably benign
R1919:Parp3 UTSW 9 106475117 missense possibly damaging 0.92
R1935:Parp3 UTSW 9 106474732 missense probably damaging 1.00
R1936:Parp3 UTSW 9 106474732 missense probably damaging 1.00
R1958:Parp3 UTSW 9 106474822 splice site probably null
R2188:Parp3 UTSW 9 106475852 missense probably damaging 0.99
R2919:Parp3 UTSW 9 106473725 missense possibly damaging 0.84
R3014:Parp3 UTSW 9 106471315 missense possibly damaging 0.66
R3429:Parp3 UTSW 9 106474723 missense probably damaging 0.99
R3430:Parp3 UTSW 9 106474723 missense probably damaging 0.99
R3618:Parp3 UTSW 9 106475063 missense possibly damaging 0.81
R3980:Parp3 UTSW 9 106474068 missense probably damaging 1.00
R4840:Parp3 UTSW 9 106473109 missense probably damaging 1.00
R5617:Parp3 UTSW 9 106474505 missense possibly damaging 0.75
R6015:Parp3 UTSW 9 106474282 missense possibly damaging 0.72
R6591:Parp3 UTSW 9 106473692 missense probably benign
R6691:Parp3 UTSW 9 106473692 missense probably benign
R7403:Parp3 UTSW 9 106474853 missense probably benign 0.35
R7612:Parp3 UTSW 9 106474194 missense probably benign 0.03
R8330:Parp3 UTSW 9 106474870 critical splice acceptor site probably null
R8396:Parp3 UTSW 9 106474248 missense probably benign 0.00
Posted On2011-07-12