Incidental Mutation 'IGL03206:Pbld2'
ID 413147
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03206
Quality Score
Status
Chromosome 10
Chromosomal Location 62860094-62894592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62883261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 94 (D94E)
Ref Sequence ENSEMBL: ENSMUSP00000121682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020262] [ENSMUST00000124784]
AlphaFold Q9CXN7
Predicted Effect probably benign
Transcript: ENSMUST00000020262
AA Change: D33E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020262
Gene: ENSMUSG00000020072
AA Change: D33E

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 8 284 2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124784
AA Change: D94E

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072
AA Change: D94E

DomainStartEndE-ValueType
Pfam:PhzC-PhzF 69 175 1.5e-39 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(21) : Gene trapped(21)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,239 (GRCm39) E939D possibly damaging Het
Aloxe3 C A 11: 69,020,472 (GRCm39) A172D possibly damaging Het
Bscl2 G A 19: 8,820,453 (GRCm39) R158Q probably damaging Het
Cdon A G 9: 35,414,602 (GRCm39) D1159G probably benign Het
Cep164 A G 9: 45,714,023 (GRCm39) V203A probably benign Het
Chml T C 1: 175,515,303 (GRCm39) D206G probably benign Het
E2f6 T C 12: 16,872,090 (GRCm39) probably benign Het
Emilin3 T A 2: 160,752,719 (GRCm39) Y77F probably damaging Het
Fbxw15 A T 9: 109,394,430 (GRCm39) N128K possibly damaging Het
Gjd2 A G 2: 113,842,204 (GRCm39) L91P probably damaging Het
Gm12830 T A 4: 114,702,314 (GRCm39) probably benign Het
Gpr161 T A 1: 165,149,218 (GRCm39) L529Q probably damaging Het
Hoxd10 T A 2: 74,522,776 (GRCm39) Y151* probably null Het
Iars1 A G 13: 49,846,546 (GRCm39) D215G possibly damaging Het
Ift140 T C 17: 25,311,800 (GRCm39) V1241A probably damaging Het
Kdm5b A G 1: 134,555,055 (GRCm39) N1321S probably benign Het
Lrat T A 3: 82,810,656 (GRCm39) I122F probably damaging Het
Myl10 C T 5: 136,726,796 (GRCm39) Q106* probably null Het
Ncapd2 A T 6: 125,148,660 (GRCm39) Y1018N possibly damaging Het
Ndrg1 C T 15: 66,814,936 (GRCm39) W172* probably null Het
Nphs2 T C 1: 156,153,701 (GRCm39) M264T probably damaging Het
Nrxn3 A T 12: 89,227,278 (GRCm39) R677S possibly damaging Het
Nudt12 T C 17: 59,314,667 (GRCm39) T306A probably benign Het
Numb A G 12: 83,872,070 (GRCm39) probably benign Het
Or10h28 T A 17: 33,487,725 (GRCm39) I9K possibly damaging Het
Or2y1 A T 11: 49,385,536 (GRCm39) M59L probably benign Het
Or5p58 C T 7: 107,694,261 (GRCm39) C172Y probably damaging Het
Pkd1l3 C A 8: 110,350,345 (GRCm39) Q397K probably benign Het
Ppp4r3a A T 12: 101,024,878 (GRCm39) L207H probably damaging Het
Ranbp2 T A 10: 58,301,369 (GRCm39) I674N probably damaging Het
Retnlg G T 16: 48,694,655 (GRCm39) C101F probably damaging Het
Rif1 T A 2: 51,993,634 (GRCm39) I849N probably damaging Het
Serpinb9d T C 13: 33,382,014 (GRCm39) I161T possibly damaging Het
Slc17a6 T C 7: 51,315,771 (GRCm39) probably benign Het
Smg8 A C 11: 86,976,814 (GRCm39) probably null Het
Spata31d1c C A 13: 65,183,407 (GRCm39) N316K probably benign Het
Tlr1 A G 5: 65,082,400 (GRCm39) S726P probably damaging Het
Trim69 A C 2: 122,003,636 (GRCm39) D195A probably benign Het
Ttc16 T G 2: 32,661,897 (GRCm39) probably null Het
Usp53 T A 3: 122,746,832 (GRCm39) M405L probably benign Het
Ywhag G A 5: 135,939,914 (GRCm39) R227* probably null Het
Zfp335 G T 2: 164,734,601 (GRCm39) probably benign Het
Zfp607a T C 7: 27,577,248 (GRCm39) I106T possibly damaging Het
Zfp959 T C 17: 56,204,613 (GRCm39) S214P possibly damaging Het
Zfyve9 T C 4: 108,546,406 (GRCm39) M868V possibly damaging 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
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
YA93:Pbld2 UTSW 10 62,890,224 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02