Incidental Mutation 'YA93:Pbld2'
ID 90
Institutional Source Beutler Lab
Gene Symbol Pbld2
Ensembl Gene ENSMUSG00000020072
Gene Name phenazine biosynthesis-like protein domain containing 2
Synonyms 3110049J23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # YA93 of strain inept
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 62860094-62894592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62890224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 211 (Y211N)
Ref Sequence ENSEMBL: ENSMUSP00000020262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020262] [ENSMUST00000124784]
AlphaFold Q9CXN7
Predicted Effect possibly damaging
Transcript: ENSMUST00000020262
AA Change: Y211N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020262
Gene: ENSMUSG00000020072
AA Change: Y211N

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 284 2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124784
SMART Domains Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 69 175 1.5e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155982
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 81.3%
Validation Efficiency 88% (101/115)
Allele List at MGI

All alleles(21) : Gene trapped(21)

Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 C T 1: 34,771,298 (GRCm39) R1202W probably benign Het
B4galnt4 T A 7: 140,647,324 (GRCm39) I358K possibly damaging Homo
Ccdc168 A G 1: 44,104,245 (GRCm39) probably benign Het
Chodl A G 16: 78,738,170 (GRCm39) H46R probably benign Homo
Cubn C A 2: 13,388,803 (GRCm39) R1468L probably benign Het
Dlg5 G A 14: 24,205,201 (GRCm39) probably benign Het
Dntt A C 19: 41,041,626 (GRCm39) M437L probably benign Het
Grsf1 G A 5: 88,821,594 (GRCm39) P157S probably damaging Het
Lct C T 1: 128,229,057 (GRCm39) G812D probably damaging Het
Osbpl5 T A 7: 143,247,607 (GRCm39) I720F probably benign Homo
Peg3 T A 7: 6,714,646 (GRCm39) E192V probably damaging Het
Ptbp3 T C 4: 59,524,413 (GRCm39) T38A possibly damaging Het
Rpap3 T A 15: 97,591,114 (GRCm39) E241V possibly damaging Het
Scara3 C A 14: 66,168,398 (GRCm39) M406I probably damaging Het
Serpinf2 C A 11: 75,323,510 (GRCm39) V399L probably benign Het
Other mutations in Pbld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Pbld2 APN 10 62,907,734 (GRCm39) missense probably benign 0.01
IGL02162:Pbld2 APN 10 62,907,179 (GRCm39) splice site probably benign
IGL03206:Pbld2 APN 10 62,883,261 (GRCm39) missense probably benign 0.06
R0311:Pbld2 UTSW 10 62,890,286 (GRCm39) critical splice donor site probably null
R0366:Pbld2 UTSW 10 62,889,736 (GRCm39) unclassified probably benign
R0727:Pbld2 UTSW 10 62,903,298 (GRCm39) missense probably benign 0.03
R0731:Pbld2 UTSW 10 62,892,590 (GRCm39) missense probably damaging 1.00
R1412:Pbld2 UTSW 10 62,883,301 (GRCm39) missense probably damaging 1.00
R1523:Pbld2 UTSW 10 62,912,212 (GRCm39) missense probably benign 0.01
R1531:Pbld2 UTSW 10 62,889,732 (GRCm39) critical splice donor site probably null
R1773:Pbld2 UTSW 10 62,890,150 (GRCm39) missense probably benign 0.03
R1778:Pbld2 UTSW 10 62,890,150 (GRCm39) missense probably benign 0.03
R1797:Pbld2 UTSW 10 62,910,903 (GRCm39) critical splice donor site probably null
R2251:Pbld2 UTSW 10 62,860,384 (GRCm39) unclassified probably benign
R3036:Pbld2 UTSW 10 62,907,225 (GRCm39) missense probably damaging 1.00
R3117:Pbld2 UTSW 10 62,890,215 (GRCm39) missense probably benign 0.00
R3622:Pbld2 UTSW 10 62,897,470 (GRCm39) missense probably damaging 0.97
R3624:Pbld2 UTSW 10 62,897,470 (GRCm39) missense probably damaging 0.97
R3734:Pbld2 UTSW 10 62,907,244 (GRCm39) missense probably damaging 1.00
R4260:Pbld2 UTSW 10 62,860,186 (GRCm39) unclassified probably benign
R4684:Pbld2 UTSW 10 62,893,476 (GRCm39) missense probably damaging 1.00
R4928:Pbld2 UTSW 10 62,883,778 (GRCm39) missense probably damaging 1.00
R4936:Pbld2 UTSW 10 62,888,017 (GRCm39) missense probably damaging 1.00
R5508:Pbld2 UTSW 10 62,902,444 (GRCm39) splice site probably null
R5596:Pbld2 UTSW 10 62,907,791 (GRCm39) missense probably damaging 1.00
R5603:Pbld2 UTSW 10 62,907,228 (GRCm39) missense probably benign
R6298:Pbld2 UTSW 10 62,874,931 (GRCm39) missense probably benign 0.05
R6404:Pbld2 UTSW 10 62,890,107 (GRCm39) missense probably damaging 0.98
R7089:Pbld2 UTSW 10 62,889,691 (GRCm39) missense probably benign 0.23
R7134:Pbld2 UTSW 10 62,860,368 (GRCm39) unclassified probably benign
R7423:Pbld2 UTSW 10 62,883,783 (GRCm39) missense probably damaging 1.00
R8016:Pbld2 UTSW 10 62,883,744 (GRCm39) missense probably damaging 1.00
R8039:Pbld2 UTSW 10 62,883,771 (GRCm39) missense probably damaging 1.00
R8119:Pbld2 UTSW 10 62,889,656 (GRCm39) missense probably benign 0.34
R8281:Pbld2 UTSW 10 62,883,805 (GRCm39) missense probably damaging 1.00
R8747:Pbld2 UTSW 10 62,888,069 (GRCm39) missense probably benign 0.07
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to A transversion at position 916 of the 3110049J23Rik transcript in exon 8 of 10 total exons. The mutated nucleotide causes a tyrosine to asparagine substitution at amino acid 211 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The 3110049J23Rik gene encodes a 288 amino acid protein belonging to the phzF family and is known as the phenazine biosynthesis-like domain-containing protein 2. These enzymes are involved in phenazine biosynthesis in bacteria (Uniprot Q9CXN7). 
 
The Y211N change is predicted to be probably damaging by the PolyPhen program.
Posted On 2010-03-02