Incidental Mutation 'IGL02938:Pwwp2b'
ID 364431
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 # IGL02938
Quality Score
Status
Chromosome 7
Chromosomal Location 138828398-138847172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138836059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 500 (V500A)
Ref Sequence ENSEMBL: ENSMUSP00000091529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093993] [ENSMUST00000172136]
AlphaFold E9Q9M8
Predicted Effect probably damaging
Transcript: ENSMUST00000093993
AA Change: V500A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: V500A

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 damaging
Transcript: ENSMUST00000172136
AA Change: V500A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: V500A

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,180,979 (GRCm39) T1152A possibly damaging Het
Adgra3 T C 5: 50,118,659 (GRCm39) D963G probably benign Het
Adrm1 T A 2: 179,817,395 (GRCm39) D287E probably damaging Het
Agxt A G 1: 93,072,831 (GRCm39) D396G probably damaging Het
Ankle1 C T 8: 71,858,896 (GRCm39) A43V probably damaging Het
Apc A G 18: 34,448,281 (GRCm39) I1692V probably damaging Het
Arhgef18 T C 8: 3,500,802 (GRCm39) V588A probably benign Het
Ccdc62 T A 5: 124,072,247 (GRCm39) V4E probably benign Het
Cdh16 A T 8: 105,343,561 (GRCm39) probably benign Het
Cr2 A T 1: 194,848,696 (GRCm39) C276S probably damaging Het
Cyp2c29 T A 19: 39,275,567 (GRCm39) D2E probably damaging Het
Ddx31 T A 2: 28,749,035 (GRCm39) V277E possibly damaging Het
Defa35 C T 8: 21,555,930 (GRCm39) probably benign Het
Dhx9 A T 1: 153,340,376 (GRCm39) D707E probably benign Het
Dnmt1 A G 9: 20,852,669 (GRCm39) S28P probably benign Het
Dock5 A T 14: 67,994,667 (GRCm39) probably benign Het
Dpp6 T C 5: 27,928,365 (GRCm39) probably benign Het
Egln1 A G 8: 125,640,754 (GRCm39) probably null Het
Esr1 T A 10: 4,733,872 (GRCm39) M224K probably damaging Het
Flt1 A G 5: 147,615,109 (GRCm39) I279T possibly damaging Het
Fzd6 T C 15: 38,897,285 (GRCm39) I478T probably benign Het
Glb1l3 A G 9: 26,738,055 (GRCm39) V368A probably benign Het
Gltpd2 T C 11: 70,410,637 (GRCm39) F5S probably damaging Het
Helz G A 11: 107,577,264 (GRCm39) E1872K unknown Het
Irak3 A G 10: 120,018,429 (GRCm39) probably null Het
Itsn2 A T 12: 4,747,216 (GRCm39) I1206F probably damaging Het
Lingo3 A T 10: 80,670,988 (GRCm39) V314E probably benign Het
Lrrc8a C T 2: 30,145,698 (GRCm39) R171W probably damaging Het
Lsg1 T C 16: 30,390,024 (GRCm39) T364A probably benign Het
Mks1 T C 11: 87,753,478 (GRCm39) probably null Het
Mov10l1 T A 15: 88,872,729 (GRCm39) F89Y probably damaging Het
Myo1b A C 1: 51,840,337 (GRCm39) probably null Het
Myo1h T C 5: 114,497,000 (GRCm39) Y819H probably damaging Het
Nedd1 G A 10: 92,525,519 (GRCm39) Q597* probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or5an9 A G 19: 12,187,046 (GRCm39) T39A probably benign Het
Pbrm1 T C 14: 30,789,761 (GRCm39) S792P probably damaging Het
Pccb T C 9: 100,866,449 (GRCm39) N457S probably benign Het
Plekho2 T C 9: 65,465,902 (GRCm39) E162G possibly damaging Het
Pou1f1 A T 16: 65,320,430 (GRCm39) T40S probably benign Het
Pygo1 C T 9: 72,852,020 (GRCm39) A69V probably damaging Het
Slc18a3 A C 14: 32,185,772 (GRCm39) Y204D probably damaging Het
Stab2 A G 10: 86,707,785 (GRCm39) V261A possibly damaging Het
Tacc2 A T 7: 130,330,671 (GRCm39) K208N probably damaging Het
Tbc1d4 T C 14: 101,738,536 (GRCm39) D403G probably damaging Het
Tbc1d9 T A 8: 83,995,696 (GRCm39) probably benign Het
Tdrkh T C 3: 94,336,657 (GRCm39) probably benign Het
Tktl2 T A 8: 66,964,982 (GRCm39) L180H probably damaging Het
Tm4sf19 T A 16: 32,224,733 (GRCm39) L27Q probably damaging Het
Tmtc2 A G 10: 105,249,157 (GRCm39) V192A probably damaging Het
Ttn C A 2: 76,543,328 (GRCm39) M33219I probably damaging Het
Vmn1r52 A T 6: 90,156,295 (GRCm39) M200L possibly damaging Het
Vmn2r114 T A 17: 23,510,263 (GRCm39) H739L probably benign Het
Wdr20rt T C 12: 65,272,692 (GRCm39) F52L probably benign Het
Zbtb38 C T 9: 96,569,227 (GRCm39) G619D probably benign Het
Zfyve19 T C 2: 119,041,999 (GRCm39) V156A probably benign Het
Other mutations in Pwwp2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Pwwp2b APN 7 138,834,771 (GRCm39) nonsense probably null
IGL02209:Pwwp2b APN 7 138,835,021 (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 2015-12-18