Mutagenetix > Incidental Mutation

Incidental Mutation 'R7960:Pbk'

656334

Institutional Source

Beutler Lab

Gene Symbol

Pbk

Ensembl Gene

ENSMUSG00000022033

Gene Name

PDZ binding kinase

Synonyms

D14Ertd732e, 2810434B10Rik, TOPK

MMRRC Submission

046004-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.694) question?

Stock #

R7960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66043337-66055271 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 66046650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022612] [ENSMUST00000139644]

AlphaFold

Q9JJ78

Predicted Effect

probably null
Transcript: ENSMUST00000022612

SMART Domains

Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033

Domain	Start	End	E-Value	Type
Pfam:Pkinase	32	317	1.7e-40	PFAM
Pfam:Pkinase_Tyr	32	317	2.4e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000139644

SMART Domains

Protein: ENSMUSP00000114484
Gene: ENSMUSG00000022033

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	32	119	3.5e-5	PFAM
Pfam:Pkinase	32	120	7.2e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (71/72)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	C	7: 115,702,481 (GRCm39)	S82P	possibly damaging	Het
Ablim2	A	C	5: 36,014,493 (GRCm39)	E450A	probably benign	Het
Acacb	G	T	5: 114,368,922 (GRCm39)	M1713I	probably benign	Het
Acbd6	C	A	1: 155,562,766 (GRCm39)	Q256K	probably benign	Het
Agbl2	A	T	2: 90,621,975 (GRCm39)	N154I	probably benign	Het
Ahcyl2	A	G	6: 29,870,626 (GRCm39)	N181D	probably benign	Het
Aldh18a1	A	T	19: 40,546,264 (GRCm39)	D544E	probably benign	Het
Anapc1	A	T	2: 128,516,513 (GRCm39)	L407Q	probably damaging	Het
Arhgap26	T	A	18: 39,362,980 (GRCm39)	V34D		Het
Brd3	A	T	2: 27,342,945 (GRCm39)	S516T	probably benign	Het
Bsn	A	G	9: 107,992,747 (GRCm39)	S1002P	probably damaging	Het
C4b	G	T	17: 34,960,252 (GRCm39)		probably null	Het
Camta1	T	C	4: 151,232,990 (GRCm39)	T228A	probably benign	Het
Cct6b	T	C	11: 82,632,221 (GRCm39)	K256E	possibly damaging	Het
Cep85l	T	A	10: 53,172,403 (GRCm39)	Q552L	probably benign	Het
Col6a5	A	G	9: 105,823,049 (GRCm39)	F103L	unknown	Het
Copb2	A	G	9: 98,462,407 (GRCm39)	Q464R	possibly damaging	Het
Dlc1	G	T	8: 37,404,989 (GRCm39)	H267N	probably benign	Het
Dnajb2	T	C	1: 75,218,055 (GRCm39)	I184T		Het
Dnajc9	C	T	14: 20,438,764 (GRCm39)	E30K	possibly damaging	Het
Dock1	T	C	7: 134,678,917 (GRCm39)	L1012P	possibly damaging	Het
Dtnbp1	T	C	13: 45,106,650 (GRCm39)	K170R	probably benign	Het
F13b	T	A	1: 139,431,509 (GRCm39)	C26*	probably null	Het
Ficd	G	T	5: 113,877,020 (GRCm39)	E398D	probably benign	Het
G6pc1	G	A	11: 101,267,359 (GRCm39)	G270R	probably damaging	Het
Garin4	T	A	1: 190,895,645 (GRCm39)	T333S	probably benign	Het
Gm3604	T	C	13: 62,517,587 (GRCm39)	Y257C	probably damaging	Het
Hmcn1	T	A	1: 150,531,606 (GRCm39)	Y3221F	probably damaging	Het
Hs3st3b1	C	T	11: 63,812,694 (GRCm39)	G7D	possibly damaging	Het
Htr3b	A	T	9: 48,856,852 (GRCm39)	S209T	probably benign	Het
Ift70a1	A	T	2: 75,811,188 (GRCm39)	D298E	probably benign	Het
Iglon5	T	A	7: 43,126,326 (GRCm39)	E192D	probably benign	Het
Inpp5f	A	G	7: 128,295,638 (GRCm39)		probably null	Het
Kif26b	T	A	1: 178,506,484 (GRCm39)	C187S	probably damaging	Het
Klhl11	A	G	11: 100,354,805 (GRCm39)	S339P	probably benign	Het
Klk14	G	A	7: 43,341,467 (GRCm39)	A40T	probably damaging	Het
Kmt2c	G	A	5: 25,520,194 (GRCm39)	T1972I	probably benign	Het
Lama2	T	C	10: 26,869,094 (GRCm39)	T2784A	probably benign	Het
Loxhd1	T	A	18: 77,472,746 (GRCm39)	F1088I	probably damaging	Het
Map2k2	G	A	10: 80,954,968 (GRCm39)	R185Q	probably benign	Het
Mbd5	G	A	2: 49,169,796 (GRCm39)		probably null	Het
Mdc1	A	T	17: 36,161,570 (GRCm39)	R828*	probably null	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or5g25	A	G	2: 85,478,417 (GRCm39)	S83P	possibly damaging	Het
Parp4	C	A	14: 56,832,708 (GRCm39)		probably null	Het
Phip	A	T	9: 82,775,401 (GRCm39)	D1060E	probably benign	Het
Pik3c2b	T	A	1: 133,031,587 (GRCm39)	L1509Q	probably damaging	Het
Pik3r5	T	A	11: 68,386,796 (GRCm39)	F808L	probably benign	Het
Plcl1	T	A	1: 55,736,443 (GRCm39)	S595T	possibly damaging	Het
Plxna2	AT	A	1: 194,476,172 (GRCm39)		probably null	Het
Pole	A	G	5: 110,437,727 (GRCm39)	K95R	possibly damaging	Het
Poteg	A	G	8: 27,946,888 (GRCm39)	T259A	probably benign	Het
Pramel52-ps	A	G	5: 94,531,739 (GRCm39)	M208V	probably benign	Het
Ptpn12	G	T	5: 21,260,687 (GRCm39)	P20Q	probably benign	Het
Ptpn5	T	A	7: 46,729,295 (GRCm39)	T440S	possibly damaging	Het
Ptpru	T	C	4: 131,515,820 (GRCm39)	R845G	probably benign	Het
Rasgrp2	G	T	19: 6,464,839 (GRCm39)	V596L	probably benign	Het
Rcbtb2	T	G	14: 73,399,384 (GRCm39)	V16G	probably benign	Het
Rel	T	C	11: 23,694,493 (GRCm39)	N289S	probably damaging	Het
Rpn1	T	A	6: 88,079,068 (GRCm39)	Y504N	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scaf8	G	A	17: 3,221,397 (GRCm39)	V295M	unknown	Het
Skic3	T	C	13: 76,260,318 (GRCm39)	C87R	probably benign	Het
Slc25a48	T	A	13: 56,611,411 (GRCm39)	Y173N	probably damaging	Het
Slc8a3	C	T	12: 81,263,506 (GRCm39)	S627N	probably benign	Het
Snx8	T	A	5: 140,343,848 (GRCm39)	M123L	probably benign	Het
Sri	A	T	5: 8,114,586 (GRCm39)	Q180H	probably benign	Het
Sycp2	T	A	2: 178,046,453 (GRCm39)	R4S	probably null	Het
Tcstv1a	G	A	13: 120,355,521 (GRCm39)	T37I	possibly damaging	Het
Tnnc2	A	T	2: 164,619,704 (GRCm39)	D87E	probably benign	Het
Trim7	A	T	11: 48,728,628 (GRCm39)	N92I	probably damaging	Het
Trpv6	C	T	6: 41,604,612 (GRCm39)	D97N	probably benign	Het
Ulk4	A	G	9: 121,102,022 (GRCm39)	Y19H	probably damaging	Het
Vmn2r69	C	T	7: 85,055,973 (GRCm39)	V722I	probably benign	Het
Zan	T	C	5: 137,407,865 (GRCm39)	D3643G	unknown	Het
Zan	G	A	5: 137,463,154 (GRCm39)	T675I	unknown	Het

Other mutations in Pbk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6006:Pbk	UTSW	14	66,054,094 (GRCm39)	missense	probably damaging	0.97
R6086:Pbk	UTSW	14	66,052,702 (GRCm39)	nonsense	probably null
R7272:Pbk	UTSW	14	66,052,621 (GRCm39)	missense	probably damaging	1.00
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'- TTCTGCTAACCTTTTAGAACTAGGTAG -3'
(R):5'- TATGCCTGTTTACAGACAATGACAAAG -3'

Sequencing Primer
(F):5'- ACTAAGTGTCTGAGCTATGCC -3'
(R):5'- CAGACAATGACAAAGGAATAAACAC -3'

Posted On

2020-10-22