Incidental Mutation 'PIT4468001:Parpbp'
ID555651
Institutional Source Beutler Lab
Gene Symbol Parpbp
Ensembl Gene ENSMUSG00000035365
Gene NamePARP1 binding protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #PIT4468001 (G1)
Quality Score225.009
Status Not validated
Chromosome10
Chromosomal Location88091432-88146941 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 88144073 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 7 (L7R)
Ref Sequence ENSEMBL: ENSMUSP00000038375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048518] [ENSMUST00000052355] [ENSMUST00000164121] [ENSMUST00000164803] [ENSMUST00000168163] [ENSMUST00000169309]
Predicted Effect probably benign
Transcript: ENSMUST00000048518
AA Change: L7R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365
AA Change: L7R

DomainStartEndE-ValueType
SCOP:d1pjr_2 154 268 8e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052355
SMART Domains Protein: ENSMUSP00000059880
Gene: ENSMUSG00000035351

DomainStartEndE-ValueType
WD40 62 108 6.16e0 SMART
WD40 113 153 2.29e-8 SMART
WD40 155 194 2.97e0 SMART
Blast:WD40 198 236 4e-14 BLAST
Blast:WD40 287 323 8e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000164121
AA Change: L7R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130777
Gene: ENSMUSG00000035365
AA Change: L7R

DomainStartEndE-ValueType
SCOP:d1pjr_2 154 202 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164803
AA Change: L7R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000168163
AA Change: L7R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000169309
SMART Domains Protein: ENSMUSP00000129728
Gene: ENSMUSG00000035351

DomainStartEndE-ValueType
WD40 62 108 6.16e0 SMART
WD40 113 153 2.29e-8 SMART
WD40 155 194 2.97e0 SMART
Blast:WD40 198 236 4e-14 BLAST
Blast:WD40 287 323 8e-16 BLAST
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.2%
  • 20x: 72.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 4,348,940 L34F probably damaging Het
Alms1 T C 6: 85,624,719 probably null Het
Arhgap15 C A 2: 44,243,131 Q350K probably damaging Het
Bbs1 T A 19: 4,906,162 H35L probably benign Het
Cep85 T C 4: 134,148,697 N468S probably damaging Het
Chd8 A C 14: 52,207,996 D1709E probably benign Het
Chd8 T C 14: 52,217,881 I1050V possibly damaging Het
Clec9a G A 6: 129,419,634 probably null Het
Cyp2c70 T A 19: 40,165,362 D261V probably damaging Het
Deup1 T C 9: 15,564,005 N420D possibly damaging Het
Dpys T A 15: 39,857,205 D53V probably damaging Het
Edem1 A G 6: 108,844,867 E295G probably damaging Het
Farp2 G T 1: 93,528,777 E61* probably null Het
Fat3 T G 9: 15,996,351 D2785A probably benign Het
Fbxo30 T A 10: 11,290,956 M474K possibly damaging Het
Gm13090 C A 4: 151,091,082 P93Q unknown Het
Gm21976 A T 13: 98,307,027 R229* probably null Het
Gpr108 A T 17: 57,247,563 L25Q probably null Het
Hdac9 C A 12: 34,095,934 V920F unknown Het
Ighv13-2 T C 12: 114,357,973 S49G probably benign Het
Krt6a T C 15: 101,693,917 Y111C probably damaging Het
Mib1 T C 18: 10,798,463 S775P possibly damaging Het
Mki67 A G 7: 135,699,147 I1386T probably benign Het
Mroh2b A G 15: 4,912,812 E352G probably damaging Het
Nfya A G 17: 48,395,777 M61T unknown Het
Ntn4 A G 10: 93,644,725 T104A probably damaging Het
Numb G A 12: 83,808,147 T135I probably damaging Het
Olfr1030 A T 2: 85,984,448 T203S probably benign Het
Olfr1271 C A 2: 90,266,220 C70F probably benign Het
Olfr599 A C 7: 103,338,600 E182A probably damaging Het
Pcdhb8 T C 18: 37,356,633 Y455H probably damaging Het
Pcdhga10 T A 18: 37,747,883 D232E probably damaging Het
Pcdhga9 T A 18: 37,739,474 C785* probably null Het
Pkd1l3 A G 8: 109,664,499 Y1913C possibly damaging Het
Pld4 T G 12: 112,767,822 L374R probably damaging Het
Ppp1r13b A T 12: 111,838,702 I350N probably benign Het
Rc3h2 C A 2: 37,399,639 G387V probably damaging Het
Rfwd3 T C 8: 111,282,720 H408R probably benign Het
Rpl3l A G 17: 24,735,483 T173A probably benign Het
Sdad1 T C 5: 92,291,918 D416G probably damaging Het
Srp72 C A 5: 76,994,206 T430K probably benign Het
Steap1 C A 5: 5,736,642 G265V probably damaging Het
Sulf2 A T 2: 166,080,800 I670N probably benign Het
Tcf7l2 A T 19: 55,742,388 D16V probably damaging Het
Tmem100 T A 11: 90,035,361 S5T probably benign Het
Tnc C A 4: 63,964,667 D1906Y probably damaging Het
Trak1 T C 9: 121,453,332 S436P probably benign Het
Ttyh1 T C 7: 4,119,772 Y40H possibly damaging Het
Ubxn8 T A 8: 33,621,541 S275C probably benign Het
Umodl1 A G 17: 30,959,278 Y76C probably damaging Het
Upk3b C T 5: 136,043,007 T222M probably benign Het
Usp42 T A 5: 143,714,644 K1208M probably damaging Het
Vmn2r25 A T 6: 123,839,598 D341E probably benign Het
Vmn2r83 T G 10: 79,478,050 L164R probably damaging Het
Vwa8 G T 14: 79,183,061 R1734L probably damaging Het
Zfand2b G T 1: 75,169,832 R117L probably benign Het
Other mutations in Parpbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Parpbp APN 10 88139986 nonsense probably null
IGL02058:Parpbp APN 10 88144036 missense probably benign 0.03
IGL02222:Parpbp APN 10 88140085 missense possibly damaging 0.95
IGL02976:Parpbp APN 10 88111594 critical splice donor site probably null
IGL03013:Parpbp APN 10 88139978 missense probably damaging 0.96
PIT4544001:Parpbp UTSW 10 88114549 missense possibly damaging 0.90
R0145:Parpbp UTSW 10 88093009 missense possibly damaging 0.76
R0201:Parpbp UTSW 10 88092896 missense possibly damaging 0.46
R0471:Parpbp UTSW 10 88093707 missense probably damaging 0.96
R2057:Parpbp UTSW 10 88124962 missense probably benign 0.00
R2350:Parpbp UTSW 10 88133088 splice site probably benign
R4551:Parpbp UTSW 10 88093702 missense possibly damaging 0.82
R4552:Parpbp UTSW 10 88093702 missense possibly damaging 0.82
R5843:Parpbp UTSW 10 88133191 missense probably damaging 1.00
R5951:Parpbp UTSW 10 88139907 missense probably damaging 0.99
R6003:Parpbp UTSW 10 88133158 missense possibly damaging 0.71
R6656:Parpbp UTSW 10 88110313 missense probably benign
R7081:Parpbp UTSW 10 88093655 missense probably damaging 0.99
R7240:Parpbp UTSW 10 88124940 missense probably damaging 0.99
R7334:Parpbp UTSW 10 88111755 missense probably damaging 0.99
R7615:Parpbp UTSW 10 88093637 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGGCTCAAACTTATTATACTGGGC -3'
(R):5'- GTTCCCAATTCAAGTGAGCAG -3'

Sequencing Primer
(F):5'- TATACTGGGCAACAAGTAAAATTGG -3'
(R):5'- TTCCCAATTCAAGTGAGCAGAAAAG -3'
Posted On2019-06-07