Mutagenetix > Incidental Mutation

Incidental Mutation 'R4834:Pbk'

373098

Institutional Source

Beutler Lab

Gene Symbol

Pbk

Ensembl Gene

ENSMUSG00000022033

Gene Name

PDZ binding kinase

Synonyms

D14Ertd732e, 2810434B10Rik, TOPK

MMRRC Submission

041977-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.694) question?

Stock #

R4834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66043337-66055271 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 66052733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 192 (L192*)

Ref Sequence

ENSEMBL: ENSMUSP00000022612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022612] [ENSMUST00000022613] [ENSMUST00000139644]

AlphaFold

Q9JJ78

Predicted Effect

probably null
Transcript: ENSMUST00000022612
AA Change: L192*

SMART Domains

Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033
AA Change: L192*

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 benign
Transcript: ENSMUST00000022613

SMART Domains

Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,343,787 (GRCm39)	D146A	possibly damaging	Het
Acsl5	C	A	19: 55,268,991 (GRCm39)	D217E	probably benign	Het
Acss3	A	G	10: 106,920,666 (GRCm39)		probably null	Het
Adam24	G	A	8: 41,132,738 (GRCm39)	G69R	probably damaging	Het
Adgrg7	A	T	16: 56,553,232 (GRCm39)	W622R	probably damaging	Het
Ajm1	T	C	2: 25,469,530 (GRCm39)	E127G	possibly damaging	Het
Ankrd26	T	C	6: 118,500,679 (GRCm39)	M931V	probably benign	Het
Ano8	C	T	8: 71,936,939 (GRCm39)	V187M	probably damaging	Het
Ap3d1	A	T	10: 80,555,560 (GRCm39)	C348S	probably damaging	Het
Apob	T	C	12: 8,064,101 (GRCm39)	V376A	possibly damaging	Het
Arhgap21	A	T	2: 20,870,130 (GRCm39)	D925E	probably damaging	Het
Bmp6	T	A	13: 38,669,817 (GRCm39)	V367E	probably damaging	Het
Bmp8b	A	T	4: 123,016,843 (GRCm39)	Q348L	probably damaging	Het
Ccr1l1	T	C	9: 123,777,742 (GRCm39)	K235R	probably damaging	Het
Cd59a	G	A	2: 103,944,431 (GRCm39)	C93Y	probably damaging	Het
Clstn3	C	T	6: 124,408,912 (GRCm39)		probably null	Het
Col4a2	C	A	8: 11,456,836 (GRCm39)	Y236*	probably null	Het
Csn1s2a	T	C	5: 87,929,637 (GRCm39)	F79L	probably benign	Het
Cyp4a10	A	C	4: 115,383,005 (GRCm39)	Y360S	probably damaging	Het
Cyp4a29	A	T	4: 115,106,867 (GRCm39)	I175F	probably benign	Het
Dck	T	A	5: 88,920,595 (GRCm39)	I105N	probably damaging	Het
Dicer1	A	G	12: 104,662,850 (GRCm39)	L1577P	probably benign	Het
Disp2	G	A	2: 118,622,985 (GRCm39)	S1239N	probably benign	Het
Dop1b	T	C	16: 93,536,892 (GRCm39)	M1T	probably null	Het
E130308A19Rik	T	A	4: 59,690,317 (GRCm39)	C50*	probably null	Het
Elf2	A	T	3: 51,184,642 (GRCm39)	D14E	probably damaging	Het
Epm2aip1	C	T	9: 111,102,262 (GRCm39)	R412C	probably benign	Het
Foxm1	T	C	6: 128,346,410 (GRCm39)	F114L	probably damaging	Het
Glcci1	C	T	6: 8,582,601 (GRCm39)	R134*	probably null	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gspt1	T	C	16: 11,040,581 (GRCm39)	K576E	probably damaging	Het
H2-M10.3	T	C	17: 36,678,286 (GRCm39)	K180E	probably benign	Het
Hecw2	A	T	1: 53,869,911 (GRCm39)	V1439E	probably damaging	Het
Hr	T	C	14: 70,797,362 (GRCm39)	S561P	probably damaging	Het
Hunk	T	C	16: 90,293,086 (GRCm39)	V456A	probably benign	Het
Il1rap	T	A	16: 26,495,685 (GRCm39)	D97E	probably damaging	Het
Inpp5d	T	G	1: 87,625,245 (GRCm39)	V474G	possibly damaging	Het
Itsn1	T	A	16: 91,703,677 (GRCm39)	L87*	probably null	Het
Izumo3	T	C	4: 92,035,208 (GRCm39)	D3G	possibly damaging	Het
Kifc2	T	A	15: 76,545,511 (GRCm39)	M1K	probably null	Het
Krt8	T	A	15: 101,907,256 (GRCm39)	I276F	probably damaging	Het
Ksr2	C	A	5: 117,806,392 (GRCm39)	Q402K	probably benign	Het
Lama2	A	G	10: 26,882,745 (GRCm39)	V2606A	probably benign	Het
Met	A	G	6: 17,491,412 (GRCm39)	H58R	probably damaging	Het
Mier3	C	T	13: 111,851,643 (GRCm39)	Q542*	probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Msl3l2	C	T	10: 55,991,655 (GRCm39)	R127C	probably damaging	Het
Naglu	T	C	11: 100,967,814 (GRCm39)	L588P	probably benign	Het
Nf1	T	C	11: 79,437,123 (GRCm39)	L2013P	probably damaging	Het
Nid1	A	G	13: 13,683,408 (GRCm39)	Y1162C	probably damaging	Het
Nlrc5	G	T	8: 95,232,113 (GRCm39)	R1313L	probably benign	Het
Nrg1	A	G	8: 32,407,747 (GRCm39)	V162A	probably benign	Het
Nup188	T	C	2: 30,229,596 (GRCm39)	L1310P	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14a259	G	A	7: 86,012,952 (GRCm39)	L198F	probably benign	Het
Or4f6	A	G	2: 111,839,276 (GRCm39)	L85P	probably damaging	Het
Or5ae1	T	G	7: 84,565,491 (GRCm39)	F168C	probably damaging	Het
Pcdhga4	T	C	18: 37,818,490 (GRCm39)	I13T	probably benign	Het
Peg10	A	T	6: 4,754,294 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,848,176 (GRCm39)	V261D	probably damaging	Het
Ppp2r5b	T	A	19: 6,280,540 (GRCm39)	T313S	possibly damaging	Het
Ptk2	A	T	15: 73,087,945 (GRCm39)		probably null	Het
Ptpn7	T	A	1: 135,065,618 (GRCm39)		probably null	Het
Rab11fip1	A	G	8: 27,643,111 (GRCm39)	S563P	probably damaging	Het
Scn1a	A	T	2: 66,158,866 (GRCm39)	C351*	probably null	Het
Slc10a5	A	T	3: 10,399,859 (GRCm39)	V267D	probably damaging	Het
Slc37a2	T	A	9: 37,146,404 (GRCm39)	M368L	probably damaging	Het
Slc49a4	T	A	16: 35,555,945 (GRCm39)	T172S	probably benign	Het
Slc6a20b	T	A	9: 123,425,113 (GRCm39)	T585S	probably benign	Het
Srcap	T	C	7: 127,156,782 (GRCm39)		probably null	Het
Tbx18	T	C	9: 87,609,502 (GRCm39)	M178V	possibly damaging	Het
Tmprss11b	C	A	5: 86,811,418 (GRCm39)	C172F	probably damaging	Het
Traf5	T	C	1: 191,751,198 (GRCm39)	Q91R	probably benign	Het
Trappc8	A	T	18: 20,958,122 (GRCm39)	Y1248N	probably damaging	Het
Trpa1	A	G	1: 14,966,747 (GRCm39)	L539S	possibly damaging	Het
Tyrp1	T	A	4: 80,764,833 (GRCm39)	Y3*	probably null	Het
Ubr7	A	T	12: 102,727,761 (GRCm39)	K94N	probably damaging	Het
Ugt2a1	C	A	5: 87,633,894 (GRCm39)		probably null	Het
Unc50	T	A	1: 37,471,710 (GRCm39)	I120K	probably damaging	Het
Usp28	T	C	9: 48,912,836 (GRCm39)	V29A	probably damaging	Het
Usp9y	A	G	Y: 1,317,002 (GRCm39)	I1849T	probably benign	Het
Vmn2r102	T	A	17: 19,898,203 (GRCm39)	V406E	probably damaging	Het
Vmn2r4	G	A	3: 64,317,484 (GRCm39)	R85W	probably benign	Het
Xirp2	A	G	2: 67,346,750 (GRCm39)	D2997G	probably benign	Het
Zc2hc1c	A	T	12: 85,336,982 (GRCm39)	E213V	probably damaging	Het
Zfp420	C	T	7: 29,573,759 (GRCm39)		probably benign	Het
Zfp641	C	T	15: 98,191,585 (GRCm39)	E34K	probably damaging	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
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
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'- GGACAATTACGTCTAGTTTACAAAGGG -3'
(R):5'- ATAATTGACCATGTGGCAAGGG -3'

Sequencing Primer
(F):5'- CTGGAACTTCTCTGTAGACCAGG -3'
(R):5'- CAAGGGAAGGAGCTGAGGACTC -3'

Posted On

2016-03-01