Incidental Mutation 'IGL01020:Pwwp2b'
ID 53695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pwwp2b
Ensembl Gene ENSMUSG00000060260
Gene Name PWWP domain containing 2B
Synonyms D7Ertd517e, D930023J19Rik, Pwwp2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL01020
Quality Score
Status
Chromosome 7
Chromosomal Location 138828398-138847172 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 138834771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 71 (E71*)
Ref Sequence ENSEMBL: ENSMUSP00000130888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093993] [ENSMUST00000172136]
AlphaFold E9Q9M8
Predicted Effect probably null
Transcript: ENSMUST00000093993
AA Change: E71*
SMART Domains Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: E71*

DomainStartEndE-ValueType
low complexity region 105 120 N/A INTRINSIC
low complexity region 145 165 N/A INTRINSIC
low complexity region 234 245 N/A INTRINSIC
low complexity region 305 319 N/A INTRINSIC
low complexity region 381 401 N/A INTRINSIC
low complexity region 457 468 N/A INTRINSIC
PDB:4LD6|A 485 506 4e-6 PDB
Predicted Effect probably null
Transcript: ENSMUST00000172136
AA Change: E71*
SMART Domains Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: E71*

DomainStartEndE-ValueType
low complexity region 105 120 N/A INTRINSIC
low complexity region 145 165 N/A INTRINSIC
low complexity region 234 245 N/A INTRINSIC
low complexity region 305 319 N/A INTRINSIC
low complexity region 381 401 N/A INTRINSIC
low complexity region 457 468 N/A INTRINSIC
Pfam:PWWP 498 583 5.5e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 T G 1: 176,958,533 (GRCm39) probably benign Het
Aldh18a1 C T 19: 40,557,625 (GRCm39) probably benign Het
Arhgap32 A G 9: 32,168,657 (GRCm39) H880R probably benign Het
Arhgef7 G A 8: 11,832,540 (GRCm39) S5N probably damaging Het
Atp6v1e1 T C 6: 120,785,372 (GRCm39) M40V possibly damaging Het
Atr T C 9: 95,744,836 (GRCm39) V51A probably damaging Het
Atxn10 A G 15: 85,259,623 (GRCm39) probably null Het
Btbd16 T A 7: 130,426,091 (GRCm39) I502N probably damaging Het
Celsr2 G T 3: 108,310,586 (GRCm39) L1499M probably damaging Het
Cfl1 C T 19: 5,543,709 (GRCm39) probably benign Het
Cul9 T C 17: 46,849,949 (GRCm39) E500G probably damaging Het
Dusp3 G T 11: 101,875,470 (GRCm39) N31K probably benign Het
Erbb4 A T 1: 68,337,608 (GRCm39) probably benign Het
Fam234b G A 6: 135,188,904 (GRCm39) V170M probably benign Het
Fign A G 2: 63,809,354 (GRCm39) S639P probably damaging Het
Gbp7 A G 3: 142,248,618 (GRCm39) T294A probably benign Het
Golm2 G A 2: 121,756,203 (GRCm39) V411I probably benign Het
Ift80 C T 3: 68,871,012 (GRCm39) D195N probably damaging Het
Kif21b G T 1: 136,081,832 (GRCm39) probably benign Het
Kif2c A T 4: 117,024,101 (GRCm39) F397I probably damaging Het
Lamc3 T C 2: 31,804,668 (GRCm39) V567A probably benign Het
Letmd1 T C 15: 100,369,640 (GRCm39) M36T probably damaging Het
Lrp1b A G 2: 40,888,259 (GRCm39) W2220R probably damaging Het
Mical2 T A 7: 111,914,283 (GRCm39) probably benign Het
Mtif2 A G 11: 29,494,973 (GRCm39) D691G possibly damaging Het
Myh8 G A 11: 67,174,229 (GRCm39) V189M probably damaging Het
Myo9b G A 8: 71,804,644 (GRCm39) R1418K probably benign Het
Nkpd1 G A 7: 19,252,674 (GRCm39) V7M possibly damaging Het
Nrxn2 G A 19: 6,543,473 (GRCm39) V1116I probably benign Het
Nynrin A G 14: 56,105,905 (GRCm39) M875V probably benign Het
Oat T C 7: 132,168,902 (GRCm39) probably null Het
Or7g35 G A 9: 19,496,616 (GRCm39) S261N possibly damaging Het
Or8g24 A C 9: 38,989,747 (GRCm39) I98R probably damaging Het
Prkaa2 C T 4: 104,932,659 (GRCm39) R63Q probably damaging Het
Psg29 T A 7: 16,942,657 (GRCm39) S219R probably benign Het
Ptprc T C 1: 138,047,911 (GRCm39) probably null Het
Robo2 T C 16: 73,725,039 (GRCm39) T1055A probably benign Het
Serpina9 T A 12: 103,974,845 (GRCm39) N103Y probably damaging Het
Sis T C 3: 72,874,171 (GRCm39) E10G probably damaging Het
Tbck C T 3: 132,432,903 (GRCm39) Q438* probably null Het
Thnsl1 T C 2: 21,217,305 (GRCm39) L353S probably damaging Het
Tmem237 C A 1: 59,146,612 (GRCm39) probably null Het
Tuba3a C T 6: 125,258,303 (GRCm39) R229H probably damaging Het
Zbtb2 A G 10: 4,319,702 (GRCm39) I108T probably benign Het
Zfp345 T C 2: 150,314,967 (GRCm39) N190S possibly damaging Het
Other mutations in Pwwp2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02209:Pwwp2b APN 7 138,835,021 (GRCm39) missense probably damaging 1.00
IGL02938:Pwwp2b APN 7 138,836,059 (GRCm39) missense probably damaging 1.00
Conservative UTSW 7 138,835,502 (GRCm39) missense probably benign 0.09
Edgy UTSW 7 138,835,978 (GRCm39) missense possibly damaging 0.90
R0033:Pwwp2b UTSW 7 138,834,844 (GRCm39) missense possibly damaging 0.87
R0033:Pwwp2b UTSW 7 138,834,844 (GRCm39) missense possibly damaging 0.87
R1491:Pwwp2b UTSW 7 138,835,879 (GRCm39) missense probably damaging 1.00
R1636:Pwwp2b UTSW 7 138,834,758 (GRCm39) missense probably benign 0.00
R1672:Pwwp2b UTSW 7 138,834,747 (GRCm39) missense probably benign
R1793:Pwwp2b UTSW 7 138,836,281 (GRCm39) missense probably damaging 0.97
R2016:Pwwp2b UTSW 7 138,836,067 (GRCm39) missense possibly damaging 0.91
R2159:Pwwp2b UTSW 7 138,834,844 (GRCm39) missense possibly damaging 0.87
R2228:Pwwp2b UTSW 7 138,835,104 (GRCm39) missense probably damaging 1.00
R2229:Pwwp2b UTSW 7 138,835,104 (GRCm39) missense probably damaging 1.00
R2380:Pwwp2b UTSW 7 138,835,366 (GRCm39) missense probably damaging 1.00
R3023:Pwwp2b UTSW 7 138,836,110 (GRCm39) missense probably damaging 1.00
R3933:Pwwp2b UTSW 7 138,835,950 (GRCm39) missense possibly damaging 0.66
R4440:Pwwp2b UTSW 7 138,835,555 (GRCm39) missense probably benign 0.09
R4844:Pwwp2b UTSW 7 138,835,502 (GRCm39) missense probably benign 0.09
R4873:Pwwp2b UTSW 7 138,835,978 (GRCm39) missense possibly damaging 0.90
R4875:Pwwp2b UTSW 7 138,835,978 (GRCm39) missense possibly damaging 0.90
R5022:Pwwp2b UTSW 7 138,835,494 (GRCm39) missense possibly damaging 0.81
R5446:Pwwp2b UTSW 7 138,835,066 (GRCm39) missense probably damaging 0.96
R5656:Pwwp2b UTSW 7 138,835,887 (GRCm39) missense possibly damaging 0.93
R6465:Pwwp2b UTSW 7 138,835,951 (GRCm39) missense probably benign 0.01
R6578:Pwwp2b UTSW 7 138,836,028 (GRCm39) missense probably damaging 1.00
R6774:Pwwp2b UTSW 7 138,835,903 (GRCm39) missense probably benign 0.13
R7218:Pwwp2b UTSW 7 138,836,049 (GRCm39) missense probably damaging 1.00
R7316:Pwwp2b UTSW 7 138,836,140 (GRCm39) missense probably benign 0.29
R7818:Pwwp2b UTSW 7 138,835,240 (GRCm39) missense probably benign
R8249:Pwwp2b UTSW 7 138,834,759 (GRCm39) missense probably damaging 0.99
R8319:Pwwp2b UTSW 7 138,835,099 (GRCm39) missense probably damaging 0.99
R8671:Pwwp2b UTSW 7 138,836,326 (GRCm39) missense probably damaging 1.00
R8785:Pwwp2b UTSW 7 138,836,086 (GRCm39) missense possibly damaging 0.85
R9331:Pwwp2b UTSW 7 138,835,357 (GRCm39) missense probably damaging 1.00
X0017:Pwwp2b UTSW 7 138,835,722 (GRCm39) nonsense probably null
Posted On 2013-06-28