Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Pbk'

482507

Institutional Source

Beutler Lab

Gene Symbol

Pbk

Ensembl Gene

ENSMUSG00000022033

Gene Name

PDZ binding kinase

Synonyms

D14Ertd732e, 2810434B10Rik, TOPK

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R6086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66043337-66055271 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 66052702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 182 (K182*)

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: K182*

SMART Domains

Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033
AA Change: K182*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	G	T	12: 8,065,164 (GRCm39)	K4044N	probably benign	Het
Asic4	G	A	1: 75,449,887 (GRCm39)	V468I	possibly damaging	Het
Atf4	T	A	15: 80,141,654 (GRCm39)	V348D	probably benign	Het
Bcl9	A	G	3: 97,112,840 (GRCm39)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,789,188 (GRCm39)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 117,316,035 (GRCm39)	S318P	probably damaging	Het
Ces1a	T	G	8: 93,753,981 (GRCm39)	N341H	probably benign	Het
Cimap2	T	C	4: 106,470,403 (GRCm39)	E218G	probably damaging	Het
Crlf3	C	T	11: 79,939,436 (GRCm39)	V352M	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyren	A	G	6: 34,851,555 (GRCm39)	S127P	probably damaging	Het
Dnah2	T	C	11: 69,406,834 (GRCm39)	T529A	probably benign	Het
Dnah9	C	T	11: 65,880,741 (GRCm39)	D2619N	probably damaging	Het
Dnah9	A	C	11: 65,976,000 (GRCm39)	S1350A	probably benign	Het
Dnajc6	C	T	4: 101,455,004 (GRCm39)	S65L	probably benign	Het
Dnm3	C	A	1: 162,148,602 (GRCm39)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,709,230 (GRCm39)	D795G	probably damaging	Het
Fah	A	T	7: 84,238,120 (GRCm39)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,548,796 (GRCm39)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,440,772 (GRCm39)	T220S	probably benign	Het
Furin	G	T	7: 80,045,179 (GRCm39)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,911,396 (GRCm39)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm9742	T	C	13: 8,080,069 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,380,034 (GRCm39)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,184,340 (GRCm39)	G398S	probably null	Het
Hspa1l	T	C	17: 35,197,131 (GRCm39)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,858,598 (GRCm39)	S94G	probably benign	Het
Klf10	G	T	15: 38,297,181 (GRCm39)	S271R	probably benign	Het
Klk1b3	T	A	7: 43,851,158 (GRCm39)	L197Q	probably damaging	Het
Knl1	A	G	2: 118,924,549 (GRCm39)	R1861G	probably damaging	Het
Myo9a	C	T	9: 59,697,340 (GRCm39)	Q374*	probably null	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncapg	T	C	5: 45,850,578 (GRCm39)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,698,362 (GRCm39)	F228V	probably benign	Het
Ntaq1	C	A	15: 58,014,024 (GRCm39)	A71E	probably damaging	Het
Oc90	A	G	15: 65,761,560 (GRCm39)	S153P	probably damaging	Het
Or4c123	A	G	2: 89,127,198 (GRCm39)	C139R	probably damaging	Het
Or5b105	A	G	19: 13,079,745 (GRCm39)	*308Q	probably null	Het
Piezo1	A	G	8: 123,228,396 (GRCm39)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,781,244 (GRCm39)	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,574,306 (GRCm39)	D132N	probably damaging	Het
Recql4	T	C	15: 76,588,787 (GRCm39)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,490,184 (GRCm39)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,845,403 (GRCm39)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sema3b	T	C	9: 107,478,047 (GRCm39)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,867,781 (GRCm39)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 73,968,338 (GRCm39)	R461C	possibly damaging	Het
Spmap2l	T	A	5: 77,209,152 (GRCm39)	V458E	probably benign	Het
Tenm2	T	A	11: 35,899,473 (GRCm39)	I2562F	possibly damaging	Het
Tmem40	G	T	6: 115,710,628 (GRCm39)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,407,405 (GRCm39)	H351R	probably benign	Het
Tnn	C	T	1: 159,913,690 (GRCm39)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,188,506 (GRCm39)	D132V	probably damaging	Het
Trgc3	T	C	13: 19,447,454 (GRCm39)	S136P	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Tsen2	A	G	6: 115,537,036 (GRCm39)	E264G	probably benign	Het
Urah	A	G	7: 140,416,711 (GRCm39)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,016,519 (GRCm39)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,168,958 (GRCm39)	T724R	probably damaging	Het
Washc2	A	G	6: 116,233,177 (GRCm39)		probably null	Het
Zfp955b	T	A	17: 33,521,478 (GRCm39)	W316R	probably benign	Het
Zranb2	T	C	3: 157,248,883 (GRCm39)		probably null	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
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'- TCAATAATTGACCATGTGGCAAGG -3'

Posted On

2017-07-14