Incidental Mutation 'R6006:Pbk'
ID 479501
Institutional Source Beutler Lab
Gene Symbol Pbk
Ensembl Gene ENSMUSG00000022033
Gene Name PDZ binding kinase
Synonyms D14Ertd732e, 2810434B10Rik, TOPK
MMRRC Submission 044183-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # R6006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 66043337-66055271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66054094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 213 (P213L)
Ref Sequence ENSEMBL: ENSMUSP00000022612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022612] [ENSMUST00000022613] [ENSMUST00000139644]
AlphaFold Q9JJ78
Predicted Effect probably damaging
Transcript: ENSMUST00000022612
AA Change: P213L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033
AA Change: P213L

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,694,804 (GRCm39) I296T probably benign Het
Abcb4 C A 5: 8,996,026 (GRCm39) T894K probably damaging Het
Acad12 C T 5: 121,737,299 (GRCm39) V491I possibly damaging Het
Actr8 T A 14: 29,706,099 (GRCm39) probably null Het
Adam7 A C 14: 68,748,845 (GRCm39) D467E probably damaging Het
Adamts18 A T 8: 114,433,606 (GRCm39) C1043S probably damaging Het
Adgrb3 T G 1: 25,865,612 (GRCm39) D77A possibly damaging Het
Arhgap20 T A 9: 51,761,426 (GRCm39) D1056E probably benign Het
Bco1 A G 8: 117,840,330 (GRCm39) probably null Het
Btn2a2 A T 13: 23,670,533 (GRCm39) W67R probably damaging Het
Camkmt A T 17: 85,759,666 (GRCm39) N269Y possibly damaging Het
Cand1 A G 10: 119,045,933 (GRCm39) F991L possibly damaging Het
Cchcr1 A G 17: 35,835,597 (GRCm39) K234E possibly damaging Het
Cd14 T C 18: 36,859,335 (GRCm39) D40G possibly damaging Het
Cdc73 A T 1: 143,493,177 (GRCm39) F386I probably damaging Het
Cdk14 C T 5: 5,299,211 (GRCm39) M1I probably null Het
Cnpy3 A C 17: 47,047,790 (GRCm39) S220A probably benign Het
Col22a1 A G 15: 71,845,685 (GRCm39) V359A probably damaging Het
Col6a3 C A 1: 90,696,105 (GRCm39) C2654F unknown Het
Colgalt2 A G 1: 152,348,912 (GRCm39) T186A probably damaging Het
Cpsf4l A G 11: 113,590,753 (GRCm39) V199A probably benign Het
Dhtkd1 G A 2: 5,908,836 (GRCm39) Q753* probably null Het
Ep400 A G 5: 110,852,825 (GRCm39) S1307P unknown Het
Fer1l6 T C 15: 58,518,893 (GRCm39) V1675A probably damaging Het
Glis1 T C 4: 107,425,103 (GRCm39) L238P probably damaging Het
Ift70a1 A G 2: 75,811,832 (GRCm39) Y84H probably benign Het
Iqgap3 T A 3: 87,998,854 (GRCm39) D318E probably damaging Het
Lats1 T C 10: 7,581,359 (GRCm39) F715L probably damaging Het
Mlxip T C 5: 123,583,721 (GRCm39) F428S possibly damaging Het
Morc3 T G 16: 93,663,381 (GRCm39) I528R possibly damaging Het
Mtx1 C T 3: 89,117,613 (GRCm39) G60D probably damaging Het
Mug2 G C 6: 122,060,459 (GRCm39) Q1398H probably null Het
Mup8 T C 4: 60,220,403 (GRCm39) I110V probably benign Het
Nfkb1 A T 3: 135,309,522 (GRCm39) L12* probably null Het
Numa1 G A 7: 101,641,926 (GRCm39) probably null Het
Or52e18 T G 7: 104,609,870 (GRCm39) E23A probably damaging Het
Pdcd1lg2 T A 19: 29,431,905 (GRCm39) H224Q possibly damaging Het
Pkp1 C G 1: 135,805,406 (GRCm39) probably null Het
Rela A G 19: 5,689,967 (GRCm39) N139S probably damaging Het
Rgs3 G A 4: 62,542,143 (GRCm39) R39Q probably damaging Het
S1pr3 A G 13: 51,573,731 (GRCm39) E304G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Setmar T C 6: 108,053,387 (GRCm39) S294P possibly damaging Het
Smc2 A G 4: 52,459,024 (GRCm39) N473S probably benign Het
Ssr1 TCTCTTTC T 13: 38,169,972 (GRCm39) probably null Het
Tigd2 A G 6: 59,187,762 (GRCm39) I210V possibly damaging Het
Tmprss9 T A 10: 80,719,555 (GRCm39) F93L possibly damaging Het
U2surp T C 9: 95,361,360 (GRCm39) Y633C probably damaging Het
Usp18 A T 6: 121,239,781 (GRCm39) E292V possibly damaging Het
Usp32 A C 11: 84,883,277 (GRCm39) probably null Het
Utp18 T C 11: 93,776,449 (GRCm39) D12G probably benign Het
Vmn1r216 C A 13: 23,283,928 (GRCm39) H204N probably benign Het
Wdr97 T C 15: 76,241,372 (GRCm39) V626A probably damaging Het
Wwc1 A T 11: 35,761,809 (GRCm39) V619E probably null Het
Wwc1 T C 11: 35,780,100 (GRCm39) D285G probably damaging Het
Zfp3 A T 11: 70,662,590 (GRCm39) Q183L probably benign Het
Zfp955a A G 17: 33,460,660 (GRCm39) C491R probably damaging Het
Other mutations in Pbk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Pbk APN 14 66,051,340 (GRCm39) missense probably damaging 1.00
IGL00858:Pbk APN 14 66,049,373 (GRCm39) splice site probably benign
IGL01472:Pbk APN 14 66,054,159 (GRCm39) missense probably benign 0.06
IGL03239:Pbk APN 14 66,054,667 (GRCm39) missense probably benign 0.22
A5278:Pbk UTSW 14 66,051,388 (GRCm39) missense probably damaging 1.00
R0067:Pbk UTSW 14 66,052,675 (GRCm39) missense possibly damaging 0.90
R0645:Pbk UTSW 14 66,051,245 (GRCm39) splice site probably benign
R4696:Pbk UTSW 14 66,049,386 (GRCm39) missense probably benign 0.00
R4834:Pbk UTSW 14 66,052,733 (GRCm39) nonsense probably null
R4856:Pbk UTSW 14 66,052,650 (GRCm39) missense probably damaging 1.00
R4886:Pbk UTSW 14 66,052,650 (GRCm39) missense probably damaging 1.00
R6086:Pbk UTSW 14 66,052,702 (GRCm39) nonsense probably null
R7272:Pbk UTSW 14 66,052,621 (GRCm39) missense probably damaging 1.00
R7960:Pbk UTSW 14 66,046,650 (GRCm39) splice site probably null
R8296:Pbk UTSW 14 66,054,185 (GRCm39) nonsense probably null
R8333:Pbk UTSW 14 66,054,680 (GRCm39) missense probably benign 0.23
R9061:Pbk UTSW 14 66,049,439 (GRCm39) missense probably benign 0.37
R9290:Pbk UTSW 14 66,054,713 (GRCm39) missense probably benign 0.02
Z1088:Pbk UTSW 14 66,051,397 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCAAGTTGTGAGCATAGATG -3'
(R):5'- CAATGTCGATCTCATTTATATGGGG -3'

Sequencing Primer
(F):5'- CCAAGTTGTGAGCATAGATGAAAATG -3'
(R):5'- GGGGTTAAATCTAGCCAATTAATCAC -3'
Posted On 2017-06-26