Incidental Mutation 'IGL02650:Parp16'
ID 302116
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp16
Ensembl Gene ENSMUSG00000032392
Gene Name poly (ADP-ribose) polymerase family, member 16
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02650
Quality Score
Status
Chromosome 9
Chromosomal Location 65121918-65146502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65141098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 223 (V223I)
Ref Sequence ENSEMBL: ENSMUSP00000149927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069000] [ENSMUST00000213396] [ENSMUST00000216486] [ENSMUST00000216702]
AlphaFold Q7TMM8
Predicted Effect probably damaging
Transcript: ENSMUST00000069000
AA Change: V223I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070098
Gene: ENSMUSG00000032392
AA Change: V223I

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
Pfam:PARP 90 273 7.8e-40 PFAM
transmembrane domain 291 313 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213396
AA Change: V223I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216486
AA Change: V223I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216702
AA Change: V223I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,571,881 (GRCm39) T586A probably benign Het
Acads G T 5: 115,250,874 (GRCm39) T141N probably benign Het
Ankmy1 C T 1: 92,808,745 (GRCm39) R721H probably damaging Het
Appl1 A G 14: 26,672,665 (GRCm39) V236A possibly damaging Het
Arhgef5 C T 6: 43,249,869 (GRCm39) Q207* probably null Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp6v0a2 G T 5: 124,789,426 (GRCm39) probably benign Het
Cenpf T C 1: 189,384,670 (GRCm39) K2537E possibly damaging Het
Cox7a1 A T 7: 29,884,562 (GRCm39) E32V possibly damaging Het
Dis3 A T 14: 99,336,221 (GRCm39) M95K probably benign Het
Dnah5 A T 15: 28,289,193 (GRCm39) probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Dynlt5 C A 4: 102,845,803 (GRCm39) Q12K probably benign Het
Ghsr A T 3: 27,429,004 (GRCm39) Q343L probably benign Het
Gm3252 T A 14: 4,746,353 (GRCm38) V215E probably damaging Het
Gm9979 A G 13: 40,859,225 (GRCm39) noncoding transcript Het
Grik2 A T 10: 48,977,331 (GRCm39) M867K probably benign Het
Grm7 A G 6: 111,335,919 (GRCm39) T777A probably damaging Het
Hc T A 2: 34,890,886 (GRCm39) Q1310L possibly damaging Het
Ifi44 A G 3: 151,451,492 (GRCm39) F205L probably damaging Het
Igkv4-86 T C 6: 68,887,617 (GRCm39) I40V probably benign Het
Jag1 T C 2: 136,957,505 (GRCm39) D69G possibly damaging Het
Lrch1 T C 14: 75,051,138 (GRCm39) D333G probably damaging Het
Mapre3 T A 5: 31,022,053 (GRCm39) I187N probably damaging Het
Myo15b T C 11: 115,777,337 (GRCm39) probably null Het
Nanos2 C T 7: 18,721,794 (GRCm39) P89S probably damaging Het
Or4c109 T A 2: 88,818,424 (GRCm39) M41L probably benign Het
Rnf123 A G 9: 107,946,947 (GRCm39) M231T probably benign Het
Suco C A 1: 161,676,322 (GRCm39) probably benign Het
Synj1 G T 16: 90,773,584 (GRCm39) T459N probably benign Het
Taf4b C T 18: 14,975,040 (GRCm39) Q732* probably null Het
Tas2r102 A G 6: 132,739,173 (GRCm39) N27S probably null Het
Tll1 C T 8: 64,500,031 (GRCm39) probably benign Het
Vmn1r168 A G 7: 23,240,916 (GRCm39) I258V probably benign Het
Vmn2r71 T A 7: 85,273,535 (GRCm39) M783K probably damaging Het
Vmn2r98 G A 17: 19,301,223 (GRCm39) V742I probably benign Het
Other mutations in Parp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Parp16 APN 9 65,137,245 (GRCm39) missense probably damaging 1.00
IGL02390:Parp16 APN 9 65,141,051 (GRCm39) missense possibly damaging 0.82
R1845:Parp16 UTSW 9 65,122,876 (GRCm39) missense possibly damaging 0.65
R2860:Parp16 UTSW 9 65,141,086 (GRCm39) missense probably damaging 1.00
R2861:Parp16 UTSW 9 65,141,086 (GRCm39) missense probably damaging 1.00
R4820:Parp16 UTSW 9 65,145,175 (GRCm39) missense probably damaging 0.96
R7802:Parp16 UTSW 9 65,137,179 (GRCm39) missense probably benign 0.02
R8163:Parp16 UTSW 9 65,137,231 (GRCm39) missense probably damaging 1.00
R8928:Parp16 UTSW 9 65,133,396 (GRCm39) missense probably benign 0.00
R9519:Parp16 UTSW 9 65,137,222 (GRCm39) nonsense probably null
R9718:Parp16 UTSW 9 65,141,009 (GRCm39) missense probably damaging 1.00
R9729:Parp16 UTSW 9 65,137,097 (GRCm39) missense possibly damaging 0.79
Posted On 2015-04-16