Incidental Mutation 'IGL02650:Parp16'
ID302116
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp16
Ensembl Gene ENSMUSG00000032392
Gene Namepoly (ADP-ribose) polymerase family, member 16
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02650
Quality Score
Status
Chromosome9
Chromosomal Location65195353-65239224 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 65233816 bp
ZygosityHeterozygous
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]
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: 68,741,537 T586A probably benign Het
Acads G T 5: 115,112,815 T141N probably benign Het
Ankmy1 C T 1: 92,881,023 R721H probably damaging Het
Appl1 A G 14: 26,950,708 V236A possibly damaging Het
Arhgef5 C T 6: 43,272,935 Q207* probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp6v0a2 G T 5: 124,712,362 probably benign Het
Cenpf T C 1: 189,652,473 K2537E possibly damaging Het
Cox7a1 A T 7: 30,185,137 E32V possibly damaging Het
Dis3 A T 14: 99,098,785 M95K probably benign Het
Dnah5 A T 15: 28,289,047 probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Ghsr A T 3: 27,374,855 Q343L probably benign Het
Gm3252 T A 14: 4,746,353 V215E probably damaging Het
Gm9979 A G 13: 40,705,749 noncoding transcript Het
Grik2 A T 10: 49,101,235 M867K probably benign Het
Grm7 A G 6: 111,358,958 T777A probably damaging Het
Hc T A 2: 35,000,874 Q1310L possibly damaging Het
Ifi44 A G 3: 151,745,855 F205L probably damaging Het
Igkv4-86 T C 6: 68,910,633 I40V probably benign Het
Jag1 T C 2: 137,115,585 D69G possibly damaging Het
Lrch1 T C 14: 74,813,698 D333G probably damaging Het
Mapre3 T A 5: 30,864,709 I187N probably damaging Het
Myo15b T C 11: 115,886,511 probably null Het
Nanos2 C T 7: 18,987,869 P89S probably damaging Het
Olfr1214 T A 2: 88,988,080 M41L probably benign Het
Rnf123 A G 9: 108,069,748 M231T probably benign Het
Suco C A 1: 161,848,753 probably benign Het
Synj1 G T 16: 90,976,696 T459N probably benign Het
Taf4b C T 18: 14,841,983 Q732* probably null Het
Tas2r102 A G 6: 132,762,210 N27S probably null Het
Tctex1d1 C A 4: 102,988,606 Q12K probably benign Het
Tll1 C T 8: 64,046,997 probably benign Het
Vmn1r168 A G 7: 23,541,491 I258V probably benign Het
Vmn2r71 T A 7: 85,624,327 M783K probably damaging Het
Vmn2r98 G A 17: 19,080,961 V742I probably benign Het
Other mutations in Parp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Parp16 APN 9 65229963 missense probably damaging 1.00
IGL02390:Parp16 APN 9 65233769 missense possibly damaging 0.82
R1845:Parp16 UTSW 9 65215594 missense possibly damaging 0.65
R2860:Parp16 UTSW 9 65233804 missense probably damaging 1.00
R2861:Parp16 UTSW 9 65233804 missense probably damaging 1.00
R4820:Parp16 UTSW 9 65237893 missense probably damaging 0.96
R7802:Parp16 UTSW 9 65229897 missense probably benign 0.02
Posted On2015-04-16