Incidental Mutation 'R5842:Parp9'
ID 450513
Institutional Source Beutler Lab
Gene Symbol Parp9
Ensembl Gene ENSMUSG00000022906
Gene Name poly (ADP-ribose) polymerase family, member 9
Synonyms
MMRRC Submission 043223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R5842 (G1)
Quality Score 186
Status Not validated
Chromosome 16
Chromosomal Location 35759360-35792975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35763778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 19 (I19V)
Ref Sequence ENSEMBL: ENSMUSP00000123736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023622] [ENSMUST00000081933] [ENSMUST00000114877] [ENSMUST00000114878] [ENSMUST00000114885] [ENSMUST00000122870]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023622
SMART Domains Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906

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 probably benign
Transcript: ENSMUST00000081933
SMART Domains Protein: ENSMUSP00000080601
Gene: ENSMUSG00000049502

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 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
SMART Domains Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906

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: ENSMUST00000114885
SMART Domains Protein: ENSMUSP00000110535
Gene: ENSMUSG00000049502

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122870
AA Change: I19V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153066
Predicted Effect probably benign
Transcript: ENSMUST00000159160
SMART Domains Protein: ENSMUSP00000124098
Gene: ENSMUSG00000022906

DomainStartEndE-ValueType
Pfam:Macro 29 100 8.3e-9 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 G A 3: 127,474,618 (GRCm39) H462Y probably damaging Het
Atp12a T C 14: 56,615,747 (GRCm39) I503T probably damaging Het
Bmp6 T A 13: 38,530,543 (GRCm39) V212D probably damaging Het
Col7a1 A G 9: 108,794,883 (GRCm39) D1479G unknown Het
Eea1 A G 10: 95,853,986 (GRCm39) D548G probably damaging Het
Eif5a2 T C 3: 28,848,546 (GRCm39) V135A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fstl5 T G 3: 76,229,590 (GRCm39) N130K possibly damaging Het
Gatm T C 2: 122,434,108 (GRCm39) I147V probably benign Het
Jakmip1 C T 5: 37,264,612 (GRCm39) R418C probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Matn2 A T 15: 34,399,202 (GRCm39) D363V probably damaging Het
Mov10 G A 3: 104,706,695 (GRCm39) probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Nbas T C 12: 13,319,267 (GRCm39) probably null Het
Nlgn1 A T 3: 26,187,892 (GRCm39) probably null Het
Nnt T A 13: 119,531,283 (GRCm39) I155F probably damaging Het
Or5p80 A G 7: 108,229,859 (GRCm39) Y220C probably benign Het
Pacc1 G T 1: 191,078,986 (GRCm39) C223F probably damaging Het
Pcdha11 T A 18: 37,144,337 (GRCm39) S143T possibly damaging Het
Pdzph1 T G 17: 59,281,407 (GRCm39) S292R possibly damaging Het
Pmvk T A 3: 89,374,927 (GRCm39) V108D probably damaging Het
Rc3h2 T C 2: 37,268,383 (GRCm39) T916A possibly damaging Het
Slc23a1 T A 18: 35,755,935 (GRCm39) I393F probably damaging Het
Slc4a7 T A 14: 14,778,866 (GRCm38) M925K probably damaging Het
Spag17 A G 3: 99,846,566 (GRCm39) D30G possibly damaging Het
Syde2 A G 3: 145,704,775 (GRCm39) I576V probably benign Het
Tgm2 C T 2: 157,985,001 (GRCm39) R35H probably damaging Het
Tiam1 A G 16: 89,652,887 (GRCm39) V745A probably benign Het
Timeless T C 10: 128,083,328 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,289 (GRCm39) K129E possibly damaging Het
Ttc6 T C 12: 57,783,802 (GRCm39) Y1754H probably damaging Het
Ube4b G T 4: 149,415,887 (GRCm39) T1069N probably benign Het
Ugcg C T 4: 59,219,545 (GRCm39) S294L possibly damaging Het
Vgll2 T C 10: 51,901,388 (GRCm39) L106P probably damaging Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Wdr73 A T 7: 80,541,458 (GRCm39) H361Q probably damaging Het
Xrcc3 A T 12: 111,770,964 (GRCm39) F322I possibly damaging Het
Ypel1 T C 16: 16,912,851 (GRCm39) T26A 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTATTTGCTGCAGCTTTTAGC -3'
(R):5'- CAAGCCTCGGAAGCAATTCC -3'

Sequencing Primer
(F):5'- TTTCAGGGCTACACAGGGAATCC -3'
(R):5'- TCGGAAGCAATTCCCCTTC -3'
Posted On 2016-12-20