Incidental Mutation 'IGL02719:Parp6'
ID304887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parp6
Ensembl Gene ENSMUSG00000025237
Gene Namepoly (ADP-ribose) polymerase family, member 6
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.432) question?
Stock #IGL02719
Quality Score
Status
Chromosome9
Chromosomal Location59617284-59650285 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59630738 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 222 (V222E)
Ref Sequence ENSEMBL: ENSMUSP00000129456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026267] [ENSMUST00000050483] [ENSMUST00000167091] [ENSMUST00000216351]
Predicted Effect probably benign
Transcript: ENSMUST00000026267
AA Change: V222E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000026267
Gene: ENSMUSG00000025237
AA Change: V222E

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
Pfam:PARP 450 580 5.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050483
AA Change: V222E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000063065
Gene: ENSMUSG00000025237
AA Change: V222E

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 303 315 N/A INTRINSIC
SCOP:d1a26_2 409 475 4e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167091
AA Change: V222E

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129456
Gene: ENSMUSG00000025237
AA Change: V222E

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
SCOP:d1a26_2 429 473 4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213419
Predicted Effect probably benign
Transcript: ENSMUST00000216351
AA Change: V222E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217195
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,582,150 D160G probably damaging Het
Aak1 A G 6: 86,959,170 probably benign Het
Anp32e A G 3: 95,937,912 probably benign Het
Aspscr1 T A 11: 120,677,579 L61Q probably damaging Het
Btrc A G 19: 45,503,150 I89M probably damaging Het
Ccdc175 G A 12: 72,175,125 T141M probably damaging Het
Cep70 G A 9: 99,275,722 V225I probably damaging Het
Col4a1 T C 8: 11,231,950 probably benign Het
Cpne1 T C 2: 156,078,217 Y214C probably damaging Het
Crtc3 T C 7: 80,618,658 probably null Het
Cul2 C T 18: 3,434,052 A683V probably damaging Het
Ddx47 A G 6: 135,017,151 N131D probably benign Het
Dnah7b T G 1: 46,099,608 probably benign Het
Dnaic2 T C 11: 114,751,911 L446P probably damaging Het
Ergic2 T C 6: 148,204,819 T58A possibly damaging Het
Erlin2 A G 8: 27,029,675 probably benign Het
Fermt2 T C 14: 45,504,656 T78A probably damaging Het
Flg2 G T 3: 93,220,131 G97* probably null Het
Gm7356 A G 17: 14,001,275 I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 probably benign Het
Heatr5b C T 17: 78,815,540 R670H probably damaging Het
Hspa4l T C 3: 40,772,658 V476A possibly damaging Het
Ick A G 9: 78,140,019 E67G probably damaging Het
Itpkc A T 7: 27,228,050 D146E possibly damaging Het
Kcnk3 T C 5: 30,621,980 F125L probably damaging Het
Kif12 T A 4: 63,167,796 M411L probably benign Het
Krtap24-1 T C 16: 88,612,206 S11G probably benign Het
Lilra6 A T 7: 3,912,992 H289Q possibly damaging Het
Musk A C 4: 58,356,496 N469H probably benign Het
Myom1 A G 17: 71,106,354 probably benign Het
Nagpa A G 16: 5,201,493 V46A possibly damaging Het
Olfr1281 T A 2: 111,329,245 Y275* probably null Het
Olfr146 T C 9: 39,019,016 N175S probably benign Het
Olfr193 T A 16: 59,110,173 T146S probably benign Het
Pde3b T A 7: 114,506,248 S472T probably damaging Het
Peak1 A G 9: 56,227,206 S1314P probably damaging Het
Pgc A G 17: 47,728,867 Y62C probably damaging Het
Pitpnm2 A G 5: 124,140,602 C189R probably damaging Het
Pla2g15 G T 8: 106,160,196 Q106H probably benign Het
Pla2g4c T A 7: 13,330,094 S93T probably damaging Het
Rbks G T 5: 31,651,801 probably benign Het
Retsat A G 6: 72,603,659 T207A possibly damaging Het
Slc25a32 A G 15: 39,099,905 Y174H probably benign Het
Slc35f2 T A 9: 53,809,742 probably benign Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sos2 A G 12: 69,617,184 Y476H probably benign Het
Ssh2 A T 11: 77,425,587 N296I probably damaging Het
Sspo G T 6: 48,482,667 R3320L probably benign Het
Synj2 A G 17: 5,996,917 I166V probably benign Het
Tpp2 T C 1: 43,940,231 V96A probably benign Het
Vmn2r3 A T 3: 64,275,610 W223R probably damaging Het
Wdr17 T C 8: 54,693,054 probably null Het
Zfr2 T A 10: 81,244,712 C407S probably damaging Het
Other mutations in Parp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Parp6 APN 9 59632959 missense probably damaging 1.00
IGL01366:Parp6 APN 9 59636713 missense possibly damaging 0.75
IGL01385:Parp6 APN 9 59630612 splice site probably benign
IGL02000:Parp6 APN 9 59648892 missense probably benign 0.00
IGL02001:Parp6 APN 9 59649961 missense possibly damaging 0.90
IGL02315:Parp6 APN 9 59641738 intron probably benign
IGL02928:Parp6 APN 9 59641063 missense possibly damaging 0.70
IGL03169:Parp6 APN 9 59650017 nonsense probably null
IGL03398:Parp6 APN 9 59641053 missense probably damaging 0.97
R0165:Parp6 UTSW 9 59632925 missense probably damaging 1.00
R0602:Parp6 UTSW 9 59649365 splice site probably benign
R0781:Parp6 UTSW 9 59649564 missense probably damaging 0.99
R1110:Parp6 UTSW 9 59649564 missense probably damaging 0.99
R1730:Parp6 UTSW 9 59633538 nonsense probably null
R1783:Parp6 UTSW 9 59633538 nonsense probably null
R2264:Parp6 UTSW 9 59624005 missense probably damaging 1.00
R4323:Parp6 UTSW 9 59630686 missense possibly damaging 0.84
R4654:Parp6 UTSW 9 59641100 splice site probably null
R4672:Parp6 UTSW 9 59640110 missense probably damaging 1.00
R4673:Parp6 UTSW 9 59640110 missense probably damaging 1.00
R4708:Parp6 UTSW 9 59641769 missense probably damaging 0.98
R4709:Parp6 UTSW 9 59641769 missense probably damaging 0.98
R4763:Parp6 UTSW 9 59631365 missense probably damaging 1.00
R4782:Parp6 UTSW 9 59634984 splice site probably null
R4825:Parp6 UTSW 9 59624362 splice site probably null
R5563:Parp6 UTSW 9 59628673 splice site probably null
R5700:Parp6 UTSW 9 59624727 missense probably damaging 1.00
R6235:Parp6 UTSW 9 59630815 missense probably benign 0.34
R6269:Parp6 UTSW 9 59650012 missense probably benign
R6383:Parp6 UTSW 9 59623939 missense probably damaging 0.99
X0061:Parp6 UTSW 9 59630765 missense probably benign 0.25
Posted On2015-04-16