Incidental Mutation 'IGL02390:Parp16'
ID294227
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 #IGL02390
Quality Score
Status
Chromosome9
Chromosomal Location65195353-65239224 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 65233769 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 207 (P207L)
Ref Sequence ENSEMBL: ENSMUSP00000150997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069000] [ENSMUST00000213396] [ENSMUST00000216486] [ENSMUST00000216702]
Predicted Effect probably benign
Transcript: ENSMUST00000069000
AA Change: P207L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000070098
Gene: ENSMUSG00000032392
AA Change: P207L

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 benign
Transcript: ENSMUST00000213396
AA Change: P207L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216486
AA Change: P207L

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000216702
AA Change: P207L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik T C 7: 34,248,218 D455G probably damaging Het
Abca5 T C 11: 110,296,551 K894R probably benign Het
Ampd1 C T 3: 103,079,041 A12V probably benign Het
Ano4 T A 10: 89,024,981 D345V possibly damaging Het
Arl6 A G 16: 59,621,217 probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atrn C T 2: 131,020,977 P1326S possibly damaging Het
Btbd9 A G 17: 30,524,814 V238A probably benign Het
Cdh16 T C 8: 104,621,974 T141A probably damaging Het
Cetn4 T C 3: 37,309,156 D102G probably damaging Het
Col5a3 T A 9: 20,776,996 N1256I unknown Het
Cyfip2 A G 11: 46,221,398 F993L possibly damaging Het
Dcaf6 T A 1: 165,422,921 I125F possibly damaging Het
Dclk2 A C 3: 86,824,683 S336A probably damaging Het
Dnah8 G A 17: 30,830,845 V4327I probably benign Het
Ebna1bp2 T C 4: 118,621,497 V59A possibly damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
F2 A T 2: 91,632,987 V184D possibly damaging Het
Fbxo38 C T 18: 62,533,589 R171H probably damaging Het
Fhod3 A C 18: 25,066,275 S668R probably benign Het
Fkbp10 T A 11: 100,416,017 F78L probably damaging Het
Gm13083 T A 4: 143,615,325 M108K probably benign Het
Hyi C T 4: 118,362,613 R254C probably benign Het
Igfl3 A T 7: 18,181,734 probably benign Het
Lgals9 T A 11: 78,963,535 I308F probably damaging Het
Lrrc8a C A 2: 30,256,701 P509Q probably damaging Het
Mapkap1 T A 2: 34,432,089 N6K probably damaging Het
Mdh1b T A 1: 63,721,557 H115L probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mrpl15 T C 1: 4,785,614 S22G probably benign Het
Nf1 T C 11: 79,565,935 Y616H possibly damaging Het
Nf1 T A 11: 79,411,676 probably benign Het
Olfr107 A T 17: 37,406,095 L182F probably benign Het
Olfr1312 A T 2: 112,042,711 V107E possibly damaging Het
Olfr270 T A 4: 52,971,263 I214N probably damaging Het
Olig1 C A 16: 91,270,153 Q93K probably damaging Het
Otoa C A 7: 121,131,367 L597M possibly damaging Het
Pbrm1 T A 14: 31,032,510 D162E probably benign Het
Prdm10 A G 9: 31,353,389 I658V possibly damaging Het
Psg21 A T 7: 18,652,631 H143Q probably benign Het
Rfx4 C T 10: 84,840,150 R28W probably damaging Het
Sart1 T G 19: 5,380,461 M753L possibly damaging Het
Smcr8 T A 11: 60,779,722 D565E probably benign Het
Smyd4 T A 11: 75,387,506 probably null Het
Sned1 T C 1: 93,261,664 V274A probably benign Het
Tbc1d13 T C 2: 30,137,387 probably benign Het
Tox A T 4: 6,697,534 I423N possibly damaging Het
Tsc2 A T 17: 24,600,453 V1232D probably damaging Het
Uckl1 C T 2: 181,574,419 V178I possibly damaging Het
Usp13 T A 3: 32,931,716 Y175* probably null Het
Vwde A G 6: 13,190,685 V469A probably damaging Het
Other mutations in Parp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Parp16 APN 9 65229963 missense probably damaging 1.00
IGL02650:Parp16 APN 9 65233816 missense probably damaging 0.99
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