Incidental Mutation 'IGL03239:Pbk'
ID414210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pbk
Ensembl Gene ENSMUSG00000022033
Gene NamePDZ binding kinase
Synonyms2810434B10Rik, TOPK, D14Ertd732e
Accession Numbers

Genbank: NM_023209; MGI: 1289156

Is this an essential gene? Possibly non essential (E-score: 0.320) question?
Stock #IGL03239
Quality Score
Status
Chromosome14
Chromosomal Location65805837-65817822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65817218 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 266 (D266E)
Ref Sequence ENSEMBL: ENSMUSP00000022612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022612] [ENSMUST00000022613] [ENSMUST00000139644]
Predicted Effect probably benign
Transcript: ENSMUST00000022612
AA Change: D266E

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033
AA Change: D266E

DomainStartEndE-ValueType
Pfam:Pkinase 32 317 1.7e-40 PFAM
Pfam:Pkinase_Tyr 32 317 2.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022613
SMART Domains Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034

DomainStartEndE-ValueType
low complexity region 139 156 N/A INTRINSIC
low complexity region 229 243 N/A INTRINSIC
Pfam:zf-C2H2_3 371 410 1.6e-18 PFAM
Pfam:Acetyltransf_13 520 588 2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139644
SMART Domains Protein: ENSMUSP00000114484
Gene: ENSMUSG00000022033

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 32 119 3.5e-5 PFAM
Pfam:Pkinase 32 120 7.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152130
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased UV-induced loss of the horny layer, epidermis thickening, skin fibrosis, and deposition of extracellular matrix in the skin. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,976 Y309C probably damaging Het
Arvcf G T 16: 18,397,067 V44L probably damaging Het
Catsperg2 T G 7: 29,697,716 S1121R probably benign Het
Ccdc190 G T 1: 169,933,980 R217L probably benign Het
Chd8 G A 14: 52,227,548 P619S possibly damaging Het
Cyp17a1 A T 19: 46,667,357 W498R probably damaging Het
Dgka A G 10: 128,721,385 probably benign Het
Ep300 A G 15: 81,641,388 D1471G unknown Het
Htr2b A G 1: 86,099,692 F364S probably damaging Het
Kcnv1 A G 15: 45,109,490 probably benign Het
Lrrc37a T C 11: 103,499,407 T1731A probably benign Het
Mylip A G 13: 45,406,625 E179G possibly damaging Het
Olfm3 A G 3: 115,122,594 R392G probably damaging Het
Pcdhb13 C A 18: 37,442,835 L89M probably damaging Het
Prdm5 T G 6: 65,886,078 probably benign Het
Rab3gap2 A G 1: 185,249,894 D381G probably damaging Het
Sec24d A G 3: 123,336,489 N434D probably benign Het
Tmem246 T C 4: 49,586,034 Y378C probably damaging Het
Usp17la C T 7: 104,860,620 T144I possibly damaging Het
Usp35 T C 7: 97,321,592 T336A possibly damaging Het
Other mutations in Pbk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Pbk APN 14 65813891 missense probably damaging 1.00
IGL00858:Pbk APN 14 65811924 splice site probably benign
IGL01472:Pbk APN 14 65816710 missense probably benign 0.06
A5278:Pbk UTSW 14 65813939 missense probably damaging 1.00
R0067:Pbk UTSW 14 65815226 missense possibly damaging 0.90
R0645:Pbk UTSW 14 65813796 splice site probably benign
R4696:Pbk UTSW 14 65811937 missense probably benign 0.00
R4834:Pbk UTSW 14 65815284 nonsense probably null
R4856:Pbk UTSW 14 65815201 missense probably damaging 1.00
R4886:Pbk UTSW 14 65815201 missense probably damaging 1.00
R6006:Pbk UTSW 14 65816645 missense probably damaging 0.97
R6086:Pbk UTSW 14 65815253 nonsense probably null
R7272:Pbk UTSW 14 65815172 missense probably damaging 1.00
Z1088:Pbk UTSW 14 65813948 missense probably damaging 1.00
Posted On2016-08-02