Incidental Mutation 'R3933:Pwwp2b'
ID 308558
Institutional Source Beutler Lab
Gene Symbol Pwwp2b
Ensembl Gene ENSMUSG00000060260
Gene Name PWWP domain containing 2B
Synonyms D7Ertd517e, D930023J19Rik, Pwwp2
MMRRC Submission 040920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R3933 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 138828398-138847172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 138835950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 464 (V464I)
Ref Sequence ENSEMBL: ENSMUSP00000130888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093993] [ENSMUST00000172136]
AlphaFold E9Q9M8
Predicted Effect possibly damaging
Transcript: ENSMUST00000093993
AA Change: V464I

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: V464I

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 possibly damaging
Transcript: ENSMUST00000172136
AA Change: V464I

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: V464I

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,304,856 (GRCm39) F3350L probably damaging Het
Acp6 T C 3: 97,073,499 (GRCm39) V146A probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arhgef33 A G 17: 80,680,749 (GRCm39) I630V probably benign Het
Astn2 G A 4: 66,322,192 (GRCm39) R136C unknown Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
C1rl T A 6: 124,485,781 (GRCm39) L384* probably null Het
Ccdc6 TCCGCCGCCGCC TCCGCCGCC 10: 70,025,000 (GRCm39) probably benign Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ercc5 T A 1: 44,207,016 (GRCm39) M643K probably benign Het
Fut8 A C 12: 77,522,033 (GRCm39) K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 (GRCm39) Y88H probably damaging Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Lepr T C 4: 101,622,498 (GRCm39) probably benign Het
Matn2 T C 15: 34,345,566 (GRCm39) probably null Het
Mei1 A G 15: 81,967,353 (GRCm39) K310E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Ogdh T C 11: 6,292,601 (GRCm39) V438A possibly damaging Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or4f17-ps1 T C 2: 111,358,300 (GRCm39) Y232H probably damaging Het
Or5aq6 T A 2: 86,923,106 (GRCm39) I212F probably benign Het
Parp2 G A 14: 51,056,844 (GRCm39) V323M probably benign Het
Pip5k1a A G 3: 94,979,314 (GRCm39) S161P probably benign Het
Pold3 T C 7: 99,770,608 (GRCm39) E8G probably damaging Het
Pomt1 G A 2: 32,135,631 (GRCm39) V332I probably benign Het
Ppp2ca T A 11: 52,010,089 (GRCm39) N232K probably damaging Het
Prune2 A T 19: 17,101,318 (GRCm39) D2274V probably damaging Het
Rgs7bp T C 13: 105,189,506 (GRCm39) M98V probably benign Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Scai A T 2: 38,965,064 (GRCm39) D593E probably benign Het
Slc24a2 T C 4: 87,094,422 (GRCm39) T366A probably benign Het
Sp100 A G 1: 85,608,830 (GRCm39) I320V probably benign Het
Syngr2 C A 11: 117,704,243 (GRCm39) P206Q probably damaging Het
Tatdn3 A T 1: 190,778,521 (GRCm39) probably null Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r11 C T 5: 109,201,260 (GRCm39) A415T probably damaging Het
Vmn2r88 A G 14: 51,651,435 (GRCm39) M258V probably benign Het
Wiz G A 17: 32,576,872 (GRCm39) R561C probably damaging Het
Yju2b G A 8: 84,986,981 (GRCm39) A172V probably benign Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R 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
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
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
Predicted Primers PCR Primer
(F):5'- CAAGGTAAACATGGCCGTGATG -3'
(R):5'- AGACTTTCGCTTCTTGCCAAG -3'

Sequencing Primer
(F):5'- CCGTGATGGCTTGGCTTTTC -3'
(R):5'- TCTGGCCAAGGCTGATGTCAAG -3'
Posted On 2015-04-17