Incidental Mutation 'R5633:Parp8'
ID 439995
Institutional Source Beutler Lab
Gene Symbol Parp8
Ensembl Gene ENSMUSG00000021725
Gene Name poly (ADP-ribose) polymerase family, member 8
Synonyms D13Ertd275e, 2810430O08Rik
MMRRC Submission 043284-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5633 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 116991356-117162073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 117013116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 602 (R602H)
Ref Sequence ENSEMBL: ENSMUSP00000152911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000226107]
AlphaFold Q3UD82
Predicted Effect probably damaging
Transcript: ENSMUST00000022239
AA Change: R641H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: R641H

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 damaging
Transcript: ENSMUST00000223949
AA Change: R602H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000226107
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,344,598 (GRCm39) C125S probably benign Het
Abcb8 T C 5: 24,608,107 (GRCm39) L382P probably damaging Het
Acot3 A G 12: 84,105,724 (GRCm39) probably null Het
Acsl6 A T 11: 54,228,015 (GRCm39) Q345L probably benign Het
Adcy8 A G 15: 64,571,134 (GRCm39) S1170P probably damaging Het
Ankrd28 T G 14: 31,457,022 (GRCm39) D182A probably damaging Het
B3galt5 A T 16: 96,116,709 (GRCm39) H114L probably benign Het
Bcas2 T A 3: 103,085,740 (GRCm39) Y207* probably null Het
Best1 A G 19: 9,969,467 (GRCm39) L197P probably benign Het
Chil6 C A 3: 106,296,068 (GRCm39) C389F probably damaging Het
Chrna4 T C 2: 180,671,253 (GRCm39) T168A probably damaging Het
Ckmt1 C G 2: 121,194,110 (GRCm39) probably benign Het
Dhcr7 T C 7: 143,401,160 (GRCm39) L441P probably damaging Het
Dmtn T C 14: 70,842,419 (GRCm39) M365V probably benign Het
Dmxl1 T A 18: 50,010,764 (GRCm39) S974T probably damaging Het
Dnajb13 T C 7: 100,156,626 (GRCm39) D150G probably benign Het
Eef2k C A 7: 120,472,513 (GRCm39) probably benign Het
Elp2 T A 18: 24,748,267 (GRCm39) V213E probably damaging Het
Fbxo43 A T 15: 36,162,241 (GRCm39) probably null Het
Gm11559 C A 11: 99,755,412 (GRCm39) C20* probably null Het
Gnb2 T C 5: 137,527,454 (GRCm39) I213V probably benign Het
Gnb5 C T 9: 75,251,796 (GRCm39) T306I probably damaging Het
Ica1 A T 6: 8,667,257 (GRCm39) I303N possibly damaging Het
Idh1 A G 1: 65,204,295 (GRCm39) Y272H probably damaging Het
Ikzf2 G A 1: 69,578,256 (GRCm39) Q273* probably null Het
Itpkb A T 1: 180,154,790 (GRCm39) ⇒1 probably benign Het
Kntc1 C T 5: 123,957,120 (GRCm39) T2143I probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lmbrd1 C A 1: 24,787,943 (GRCm39) D464E possibly damaging Het
Med13 A G 11: 86,169,757 (GRCm39) probably benign Het
Mn1 T C 5: 111,568,192 (GRCm39) F721L possibly damaging Het
Myo9a T A 9: 59,775,467 (GRCm39) L1026Q possibly damaging Het
Or6c204 A T 10: 129,022,718 (GRCm39) F191I probably benign Het
P4htm A C 9: 108,456,922 (GRCm39) D428E probably damaging Het
Pkd2 T A 5: 104,646,372 (GRCm39) S726R probably damaging Het
Pla2g6 A T 15: 79,183,342 (GRCm39) I495N possibly damaging Het
Psmd5 A G 2: 34,746,500 (GRCm39) I359T probably benign Het
Rassf6 T C 5: 90,751,977 (GRCm39) H292R possibly damaging Het
Rnf145 T C 11: 44,450,915 (GRCm39) I413T probably damaging Het
Rpn2 T A 2: 157,125,516 (GRCm39) V9D possibly damaging Het
Rpp30 T C 19: 36,064,390 (GRCm39) L57P probably damaging Het
Slc41a1 A G 1: 131,774,325 (GRCm39) H464R possibly damaging Het
Slc47a1 G T 11: 61,260,087 (GRCm39) P163Q probably damaging Het
Smc4 T A 3: 68,915,443 (GRCm39) I165K probably damaging Het
Stra6l T A 4: 45,881,455 (GRCm39) I439K probably benign Het
Syt9 C T 7: 107,024,503 (GRCm39) T132I probably damaging Het
Timd6 C T 11: 46,465,433 (GRCm39) S9L unknown Het
Trpm2 T C 10: 77,774,187 (GRCm39) I471V possibly damaging Het
Uap1l1 A G 2: 25,253,361 (GRCm39) M358T probably benign Het
Vmn1r91 A T 7: 19,835,870 (GRCm39) H263L possibly damaging Het
Zfp407 T C 18: 84,579,169 (GRCm39) D648G probably benign Het
Zpbp2 T C 11: 98,445,584 (GRCm39) I150T 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
IGL02131:Parp8 APN 13 117,047,409 (GRCm39) missense probably benign 0.08
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
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
Predicted Primers PCR Primer
(F):5'- GGCAGAGTTGAATTAGACCATCCTC -3'
(R):5'- AGATATCAACCCTCTGTCCCTG -3'

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