Incidental Mutation 'R0109:Parp9'
ID 17403
Institutional Source Beutler Lab
Gene Symbol Parp9
Ensembl Gene ENSMUSG00000022906
Gene Name poly (ADP-ribose) polymerase family, member 9
Synonyms
MMRRC Submission 038395-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R0109 (G1)
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 35759360-35792975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35768711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 64 (I64T)
Ref Sequence ENSEMBL: ENSMUSP00000023622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023622] [ENSMUST00000114877] [ENSMUST00000114878] [ENSMUST00000122870]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023622
AA Change: I64T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906
AA Change: I64T

DomainStartEndE-ValueType
Pfam:Macro 74 182 1.5e-16 PFAM
PDB:3HKV|B 386 559 3e-9 PDB
SCOP:d1a26_2 403 521 1e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114877
SMART Domains Protein: ENSMUSP00000110527
Gene: ENSMUSG00000022906

DomainStartEndE-ValueType
A1pp 121 257 6.75e-33 SMART
A1pp 325 451 9.37e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114878
AA Change: I297T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: I297T

DomainStartEndE-ValueType
A1pp 85 221 6.75e-33 SMART
A1pp 289 415 9.37e-9 SMART
PDB:3HKV|B 619 792 4e-8 PDB
SCOP:d1a26_2 636 754 1e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153066
Predicted Effect unknown
Transcript: ENSMUST00000159160
AA Change: I19T
SMART Domains Protein: ENSMUSP00000124098
Gene: ENSMUSG00000022906
AA Change: I19T

DomainStartEndE-ValueType
Pfam:Macro 29 100 8.3e-9 PFAM
Meta Mutation Damage Score 0.8653 question?
Coding Region Coverage
  • 1x: 90.6%
  • 3x: 88.5%
  • 10x: 83.8%
  • 20x: 77.5%
Validation Efficiency 90% (95/106)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,636,262 (GRCm39) H710Q probably benign Het
Abca14 A T 7: 119,917,985 (GRCm39) K1496* probably null Het
Anapc1 C A 2: 128,476,613 (GRCm39) R1335L probably damaging Het
Arhgef10l A T 4: 140,305,605 (GRCm39) S203T probably benign Het
Astn1 C T 1: 158,491,674 (GRCm39) T41I possibly damaging Het
Atrnl1 T A 19: 57,743,949 (GRCm39) Y1184N possibly damaging Het
Avil A G 10: 126,849,513 (GRCm39) N603S probably benign Het
Brca1 T C 11: 101,421,916 (GRCm39) D149G possibly damaging Het
Car14 C A 3: 95,806,763 (GRCm39) A234S probably benign Het
Cep164 A C 9: 45,682,885 (GRCm39) L935R probably damaging Het
Cps1 T C 1: 67,268,577 (GRCm39) V1435A possibly damaging Het
Csmd2 T G 4: 128,438,536 (GRCm39) S3038R probably benign Het
Cyp2j6 A T 4: 96,406,394 (GRCm39) I459N probably damaging Het
Cyth1 T C 11: 118,073,132 (GRCm39) E242G probably damaging Het
Dclk3 T G 9: 111,296,738 (GRCm39) L94R possibly damaging Het
Disp2 T C 2: 118,622,297 (GRCm39) S1010P probably damaging Het
Dlec1 G A 9: 118,934,892 (GRCm39) R145H probably damaging Het
Dsg3 T C 18: 20,673,191 (GRCm39) V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 (GRCm39) D309V probably damaging Het
Fam13b A G 18: 34,584,361 (GRCm39) I601T probably benign Het
Fgd5 T A 6: 91,965,216 (GRCm39) M325K possibly damaging Het
Frmpd1 A T 4: 45,279,340 (GRCm39) E688D probably benign Het
Gabrb1 C T 5: 72,279,289 (GRCm39) probably benign Het
Gm6590 A T 6: 130,461,869 (GRCm39) noncoding transcript Het
Gse1 T A 8: 121,294,524 (GRCm39) S284T probably damaging Het
Ipo13 C T 4: 117,762,213 (GRCm39) R387Q possibly damaging Het
Kctd16 A G 18: 40,392,204 (GRCm39) E264G probably benign Het
Krt73 A T 15: 101,704,830 (GRCm39) L352* probably null Het
Mapk15 A T 15: 75,867,926 (GRCm39) K153* probably null Het
Mcemp1 C A 8: 3,717,055 (GRCm39) Y65* probably null Het
Mcoln2 C G 3: 145,881,473 (GRCm39) R210G probably damaging Het
Miox G A 15: 89,219,784 (GRCm39) V91I probably benign Het
Myh7b A G 2: 155,453,594 (GRCm39) E6G possibly damaging Het
Ncapg A G 5: 45,851,090 (GRCm39) probably null Het
Nfyb G A 10: 82,590,836 (GRCm39) A65V possibly damaging Het
Or4a69 A G 2: 89,313,147 (GRCm39) F111L probably benign Het
Or52d1 T C 7: 103,755,812 (GRCm39) S109P probably damaging Het
Or5b94 C A 19: 12,652,224 (GRCm39) F218L probably benign Het
Osbp2 A C 11: 3,661,791 (GRCm39) S754A probably benign Het
Pard3 C T 8: 128,125,147 (GRCm39) R712C probably damaging Het
Pcm1 T A 8: 41,710,974 (GRCm39) H81Q possibly damaging Het
Pcnt G A 10: 76,225,030 (GRCm39) P1825S probably benign Het
Pfkfb4 T C 9: 108,827,957 (GRCm39) V43A probably benign Het
Pgap1 A T 1: 54,533,984 (GRCm39) V643E probably damaging Het
Pip5k1a T C 3: 94,972,753 (GRCm39) T433A probably benign Het
Pip5k1b T A 19: 24,356,411 (GRCm39) M176L probably benign Het
Polg2 T C 11: 106,667,958 (GRCm39) probably benign Het
Pomp T A 5: 147,812,323 (GRCm39) H136Q probably benign Het
Ppfia4 A T 1: 134,251,955 (GRCm39) probably null Het
Prdx2 G A 8: 85,696,880 (GRCm39) G4S probably benign Het
Rbm28 C T 6: 29,160,104 (GRCm39) G70D probably benign Het
Rdh10 T A 1: 16,176,489 (GRCm39) I83N probably damaging Het
Rin3 A G 12: 102,279,340 (GRCm39) I50V possibly damaging Het
Rnf122 T C 8: 31,614,877 (GRCm39) probably benign Het
Sik2 A G 9: 50,810,775 (GRCm39) M447T possibly damaging Het
Sla2 A G 2: 156,725,507 (GRCm39) probably null Het
Slc51a T A 16: 32,296,425 (GRCm39) I192L probably benign Het
Sorcs1 T C 19: 50,367,329 (GRCm39) probably benign Het
Spata16 T A 3: 26,967,416 (GRCm39) F389I probably damaging Het
Srebf1 G A 11: 60,092,630 (GRCm39) A793V probably benign Het
Tbc1d9b T C 11: 50,049,261 (GRCm39) V736A probably benign Het
Tbx15 C A 3: 99,259,182 (GRCm39) T351N possibly damaging Het
Tep1 A G 14: 51,089,373 (GRCm39) probably null Het
Tmed11 T A 5: 108,925,278 (GRCm39) D178V probably damaging Het
Traf7 A G 17: 24,732,900 (GRCm39) F110L probably benign Het
Ubqlnl C T 7: 103,799,399 (GRCm39) V33M probably damaging Het
Vcan A T 13: 89,826,192 (GRCm39) probably null Het
Vmn1r194 A G 13: 22,429,217 (GRCm39) Y278C probably damaging Het
Vmn1r46 T C 6: 89,954,044 (GRCm39) F298L probably benign Het
Vps13b A G 15: 35,572,265 (GRCm39) T961A probably benign Het
Wdr48 G A 9: 119,747,634 (GRCm39) probably benign Het
Wwp1 G A 4: 19,641,725 (GRCm39) probably benign Het
Zfp1001 A T 2: 150,165,761 (GRCm39) probably benign Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp839 G A 12: 110,827,308 (GRCm39) E400K possibly damaging Het
Other mutations in Parp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Parp9 APN 16 35,768,368 (GRCm39) missense probably damaging 1.00
IGL01365:Parp9 APN 16 35,768,324 (GRCm39) missense possibly damaging 0.71
IGL01628:Parp9 APN 16 35,777,285 (GRCm39) missense possibly damaging 0.58
IGL02274:Parp9 APN 16 35,768,317 (GRCm39) missense probably damaging 1.00
IGL02693:Parp9 APN 16 35,777,340 (GRCm39) missense probably benign 0.01
R0109:Parp9 UTSW 16 35,768,711 (GRCm39) missense probably damaging 0.97
R0559:Parp9 UTSW 16 35,768,362 (GRCm39) missense probably benign 0.00
R1126:Parp9 UTSW 16 35,768,110 (GRCm39) missense possibly damaging 0.53
R1346:Parp9 UTSW 16 35,777,267 (GRCm39) missense probably benign 0.00
R1472:Parp9 UTSW 16 35,774,050 (GRCm39) missense possibly damaging 0.78
R1642:Parp9 UTSW 16 35,788,067 (GRCm39) missense probably benign 0.37
R1900:Parp9 UTSW 16 35,792,591 (GRCm39) missense probably benign 0.00
R2055:Parp9 UTSW 16 35,773,984 (GRCm39) missense probably damaging 0.97
R3177:Parp9 UTSW 16 35,768,578 (GRCm39) missense probably damaging 0.99
R3277:Parp9 UTSW 16 35,768,578 (GRCm39) missense probably damaging 0.99
R4039:Parp9 UTSW 16 35,780,417 (GRCm39) missense probably damaging 1.00
R4869:Parp9 UTSW 16 35,777,274 (GRCm39) missense probably damaging 0.99
R4950:Parp9 UTSW 16 35,768,377 (GRCm39) missense probably damaging 1.00
R5112:Parp9 UTSW 16 35,784,683 (GRCm39) missense probably damaging 1.00
R5117:Parp9 UTSW 16 35,792,202 (GRCm39) splice site probably null
R5180:Parp9 UTSW 16 35,774,106 (GRCm39) nonsense probably null
R5415:Parp9 UTSW 16 35,763,752 (GRCm39) missense probably damaging 0.97
R5535:Parp9 UTSW 16 35,777,195 (GRCm39) missense probably damaging 0.98
R5727:Parp9 UTSW 16 35,784,467 (GRCm39) nonsense probably null
R5842:Parp9 UTSW 16 35,763,778 (GRCm39) missense possibly damaging 0.46
R5942:Parp9 UTSW 16 35,792,259 (GRCm39) missense possibly damaging 0.90
R6110:Parp9 UTSW 16 35,773,996 (GRCm39) missense possibly damaging 0.86
R6193:Parp9 UTSW 16 35,767,921 (GRCm39) missense possibly damaging 0.64
R6707:Parp9 UTSW 16 35,768,303 (GRCm39) missense probably damaging 1.00
R6957:Parp9 UTSW 16 35,768,716 (GRCm39) missense probably benign 0.00
R7014:Parp9 UTSW 16 35,780,433 (GRCm39) critical splice donor site probably null
R7064:Parp9 UTSW 16 35,774,042 (GRCm39) missense probably benign 0.07
R7205:Parp9 UTSW 16 35,777,360 (GRCm39) missense probably benign 0.00
R7221:Parp9 UTSW 16 35,774,071 (GRCm39) missense probably benign 0.00
R7693:Parp9 UTSW 16 35,777,282 (GRCm39) missense possibly damaging 0.67
R8810:Parp9 UTSW 16 35,773,981 (GRCm39) nonsense probably null
R9154:Parp9 UTSW 16 35,768,543 (GRCm39) missense probably damaging 0.99
R9449:Parp9 UTSW 16 35,777,234 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-31