Incidental Mutation 'IGL02131:Parp8'
ID 281190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp8
Ensembl Gene ENSMUSG00000021725
Gene Name poly (ADP-ribose) polymerase family, member 8
Synonyms D13Ertd275e, 2810430O08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02131
Quality Score
Status
Chromosome 13
Chromosomal Location 116991356-117162073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117047409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 221 (N221S)
Ref Sequence ENSEMBL: ENSMUSP00000153188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000225344] [ENSMUST00000226107]
AlphaFold Q3UD82
Predicted Effect probably benign
Transcript: ENSMUST00000022239
AA Change: N260S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: N260S

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
low complexity region 163 174 N/A INTRINSIC
low complexity region 217 228 N/A INTRINSIC
internal_repeat_1 332 410 4.61e-10 PROSPERO
internal_repeat_1 404 476 4.61e-10 PROSPERO
low complexity region 497 514 N/A INTRINSIC
Pfam:PARP 712 839 2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223949
AA Change: N221S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225344
Predicted Effect probably benign
Transcript: ENSMUST00000226107
AA Change: N221S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T A 17: 79,935,084 (GRCm39) probably benign Het
Adamts19 A G 18: 59,185,732 (GRCm39) Y1202C probably damaging Het
Adgrf1 T A 17: 43,614,638 (GRCm39) F241I probably damaging Het
Ankrd11 A T 8: 123,621,149 (GRCm39) I901N probably damaging Het
Anxa8 A T 14: 33,812,588 (GRCm39) D46V possibly damaging Het
Ap4e1 A G 2: 126,903,849 (GRCm39) Y917C probably benign Het
Arhgap40 G A 2: 158,373,859 (GRCm39) probably null Het
Dnah17 A G 11: 117,963,734 (GRCm39) V2513A probably damaging Het
Dnhd1 T C 7: 105,370,009 (GRCm39) L4478P probably damaging Het
Dtx3 T C 10: 127,029,148 (GRCm39) D30G probably damaging Het
Fat2 A G 11: 55,199,868 (GRCm39) Y1069H probably damaging Het
Fbxo21 T A 5: 118,140,155 (GRCm39) N538K possibly damaging Het
Frem1 T C 4: 82,843,091 (GRCm39) T1748A probably benign Het
Kcnh6 T C 11: 105,911,001 (GRCm39) Y466H probably damaging Het
Kif2c G A 4: 117,035,150 (GRCm39) S41L possibly damaging Het
Kir3dl2 T A X: 135,358,462 (GRCm39) H52L possibly damaging Het
Mageb18 A G X: 91,163,655 (GRCm39) C196R possibly damaging Het
Mrpl9 T A 3: 94,352,020 (GRCm39) probably null Het
Nt5c1b A G 12: 10,425,491 (GRCm39) I345V possibly damaging Het
Or10a49 T C 7: 108,467,415 (GRCm39) *315W probably null Het
Or2j3 T A 17: 38,615,539 (GRCm39) H271L probably benign Het
Or8c11 A G 9: 38,289,203 (GRCm39) T9A probably benign Het
Plbd1 T C 6: 136,638,681 (GRCm39) probably benign Het
Recql5 C A 11: 115,814,068 (GRCm39) W86L probably benign Het
Rgs6 T C 12: 83,116,269 (GRCm39) S232P probably damaging Het
Rnf182 A G 13: 43,821,818 (GRCm39) H123R probably benign Het
Rtf2 A G 2: 172,308,212 (GRCm39) T204A unknown Het
Sema4d T C 13: 51,856,973 (GRCm39) probably null Het
Septin8 T C 11: 53,428,684 (GRCm39) S408P possibly damaging Het
Serpini1 A G 3: 75,548,011 (GRCm39) N396D probably benign Het
Slc26a2 A C 18: 61,331,884 (GRCm39) F516V possibly damaging Het
Tcf4 A G 18: 69,697,697 (GRCm39) probably benign Het
Trrap G T 5: 144,777,246 (GRCm39) G3045W probably damaging Het
Tspo2 T A 17: 48,756,089 (GRCm39) T91S possibly damaging Het
Ttn T C 2: 76,567,958 (GRCm39) D27645G probably damaging Het
Uba6 G T 5: 86,297,936 (GRCm39) T246K probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Wwp2 T A 8: 108,278,950 (GRCm39) M136K probably damaging Het
Zranb3 A T 1: 127,920,688 (GRCm39) V412D probably damaging Het
Other mutations in Parp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Parp8 APN 13 117,063,859 (GRCm39) missense probably damaging 1.00
IGL01346:Parp8 APN 13 117,031,600 (GRCm39) missense possibly damaging 0.72
IGL01793:Parp8 APN 13 117,047,415 (GRCm39) missense probably damaging 1.00
IGL01926:Parp8 APN 13 116,998,838 (GRCm39) splice site probably benign
IGL01958:Parp8 APN 13 117,013,108 (GRCm39) missense probably benign 0.14
IGL02398:Parp8 APN 13 117,047,399 (GRCm39) critical splice donor site probably null
IGL02496:Parp8 APN 13 116,998,838 (GRCm39) splice site probably benign
IGL03135:Parp8 APN 13 117,047,478 (GRCm39) missense probably benign 0.41
IGL03143:Parp8 APN 13 117,047,497 (GRCm39) splice site probably benign
IGL03201:Parp8 APN 13 116,999,605 (GRCm39) splice site probably benign
blondi UTSW 13 117,029,577 (GRCm39) missense possibly damaging 0.77
Heidi UTSW 13 116,998,740 (GRCm39) splice site probably null
R0362:Parp8 UTSW 13 117,061,504 (GRCm39) nonsense probably null
R0699:Parp8 UTSW 13 117,059,120 (GRCm39) missense probably benign 0.01
R1445:Parp8 UTSW 13 117,161,886 (GRCm39) splice site probably null
R1676:Parp8 UTSW 13 117,014,064 (GRCm39) missense probably damaging 0.99
R1977:Parp8 UTSW 13 117,047,449 (GRCm39) missense probably damaging 0.96
R2019:Parp8 UTSW 13 117,004,968 (GRCm39) splice site probably benign
R2049:Parp8 UTSW 13 117,031,422 (GRCm39) missense probably benign 0.20
R2142:Parp8 UTSW 13 117,031,422 (GRCm39) missense probably benign 0.20
R2474:Parp8 UTSW 13 117,029,577 (GRCm39) missense possibly damaging 0.77
R2566:Parp8 UTSW 13 117,032,223 (GRCm39) missense possibly damaging 0.78
R3863:Parp8 UTSW 13 117,031,303 (GRCm39) missense probably benign 0.01
R4126:Parp8 UTSW 13 117,005,005 (GRCm39) missense possibly damaging 0.94
R4518:Parp8 UTSW 13 117,032,209 (GRCm39) missense possibly damaging 0.62
R4519:Parp8 UTSW 13 117,032,209 (GRCm39) missense possibly damaging 0.62
R4767:Parp8 UTSW 13 117,005,072 (GRCm39) missense probably damaging 0.99
R5355:Parp8 UTSW 13 116,998,740 (GRCm39) splice site probably null
R5633:Parp8 UTSW 13 117,013,116 (GRCm39) missense probably damaging 1.00
R5942:Parp8 UTSW 13 117,005,969 (GRCm39) missense probably benign 0.12
R5978:Parp8 UTSW 13 117,032,268 (GRCm39) missense probably benign 0.01
R6039:Parp8 UTSW 13 117,014,134 (GRCm39) missense probably damaging 1.00
R6039:Parp8 UTSW 13 117,014,134 (GRCm39) missense probably damaging 1.00
R6753:Parp8 UTSW 13 117,031,651 (GRCm39) missense possibly damaging 0.91
R7016:Parp8 UTSW 13 117,031,627 (GRCm39) missense probably damaging 1.00
R7139:Parp8 UTSW 13 117,161,802 (GRCm39) missense probably benign 0.21
R7305:Parp8 UTSW 13 117,031,461 (GRCm39) missense possibly damaging 0.95
R7314:Parp8 UTSW 13 117,004,996 (GRCm39) missense probably benign 0.01
R7360:Parp8 UTSW 13 117,032,307 (GRCm39) missense probably benign 0.02
R7526:Parp8 UTSW 13 117,031,341 (GRCm39) missense probably damaging 1.00
R8078:Parp8 UTSW 13 117,061,519 (GRCm39) missense probably damaging 1.00
R8108:Parp8 UTSW 13 117,003,609 (GRCm39) nonsense probably null
R8372:Parp8 UTSW 13 116,991,786 (GRCm39) missense probably damaging 1.00
R9005:Parp8 UTSW 13 117,013,126 (GRCm39) missense probably benign
R9072:Parp8 UTSW 13 117,047,951 (GRCm39) missense probably damaging 1.00
R9073:Parp8 UTSW 13 117,047,951 (GRCm39) missense probably damaging 1.00
R9351:Parp8 UTSW 13 117,000,781 (GRCm39) missense probably damaging 0.99
R9441:Parp8 UTSW 13 117,029,562 (GRCm39) missense probably damaging 1.00
R9448:Parp8 UTSW 13 117,039,360 (GRCm39) nonsense probably null
R9470:Parp8 UTSW 13 117,031,292 (GRCm39) missense probably benign 0.02
R9562:Parp8 UTSW 13 117,029,631 (GRCm39) missense probably benign 0.16
Posted On 2015-04-16