Mutagenetix > Incidental Mutation

Incidental Mutation 'R3813:Plk3'

274138

Institutional Source

Beutler Lab

Gene Symbol

Plk3

Ensembl Gene

ENSMUSG00000028680

Gene Name

polo like kinase 3

Synonyms

Cnk

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116985852-116991160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116990647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 89 (Y89C)

Ref Sequence

ENSEMBL: ENSMUSP00000076130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062206] [ENSMUST00000076859] [ENSMUST00000144269]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062206

SMART Domains

Protein: ENSMUSP00000052243
Gene: ENSMUSG00000047671

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:Tctex-1	121	217	3.7e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076859
AA Change: Y89C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076130
Gene: ENSMUSG00000028680
AA Change: Y89C

Domain	Start	End	E-Value	Type
low complexity region	9	36	N/A	INTRINSIC
S_TKc	63	315	2.15e-96	SMART
Pfam:POLO_box	473	534	2.7e-16	PFAM
low complexity region	554	566	N/A	INTRINSIC
Pfam:POLO_box	570	638	1.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126135

Predicted Effect

probably benign
Transcript: ENSMUST00000144269

SMART Domains

Protein: ENSMUSP00000122605
Gene: ENSMUSG00000047671

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:Tctex-1	118	178	1.3e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000147730
AA Change: Y67C

SMART Domains

Protein: ENSMUSP00000120476
Gene: ENSMUSG00000028680
AA Change: Y67C

Domain	Start	End	E-Value	Type
low complexity region	1	9	N/A	INTRINSIC
S_TKc	42	294	2.15e-96	SMART
Pfam:POLO_box	435	496	5.3e-17	PFAM
low complexity region	516	528	N/A	INTRINSIC
Pfam:POLO_box	532	600	2.3e-16	PFAM

Meta Mutation Damage Score

0.5286

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: This gene encodes a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal catalytic domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cellular localization signal. Polo-like kinases have primarily been implicated in cell cycle regulation. In mouse, this protein that has been reported to localize to the nucleolus during interphase but is undetectable during mitosis, following nucleolus dissociation during prophase. The protein relocalizes to the nucleolus just prior to cytokinesis and peak levels are detected during G1 of interphase. This gene has been implicated in regulation of entry into S phase, with RNAi-induced depletion resulting in failure to re-enter the cell cycle. Mice deficient for this gene exhibit increased weight and tumor development at advanced age. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Aged mice homozygous for a null allele develop tumors in various organs at an accelerated rate while mouse embryonic fibroblasts are hypersensitive to the induction of HIF-1alpha under hypoxic conditions or by nickel and cobalt ion treatments. Homozygotes for another null allele are overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,825,785 (GRCm39)	D1018G	possibly damaging	Het
Adgrg1	T	A	8: 95,738,193 (GRCm39)	L562Q	probably benign	Het
Ankrd11	T	C	8: 123,618,117 (GRCm39)	T1891A	probably benign	Het
Arid2	A	G	15: 96,267,831 (GRCm39)	N648S	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cacna1s	A	T	1: 136,013,085 (GRCm39)	I312F	probably damaging	Het
Cenpj	A	G	14: 56,790,679 (GRCm39)	S457P	probably benign	Het
Cep120	G	A	18: 53,873,284 (GRCm39)		probably benign	Het
Cfap70	T	A	14: 20,471,190 (GRCm39)	I493L	possibly damaging	Het
Cfap97d1	A	T	11: 101,882,314 (GRCm39)	R106S	probably benign	Het
Csmd3	T	C	15: 48,655,209 (GRCm39)	D31G	possibly damaging	Het
Cstf3	T	C	2: 104,439,466 (GRCm39)	Y54H	probably damaging	Het
Cubn	T	A	2: 13,299,136 (GRCm39)	Y3179F	probably damaging	Het
Cyp2s1	C	T	7: 25,505,291 (GRCm39)		probably null	Het
Dll4	C	A	2: 119,161,510 (GRCm39)	T364N	possibly damaging	Het
Doc2g	C	T	19: 4,054,466 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,793,246 (GRCm39)	E657G	probably damaging	Het
Fhdc1	A	G	3: 84,371,577 (GRCm39)		probably null	Het
Fndc1	T	C	17: 7,992,154 (GRCm39)	H514R	unknown	Het
Gpat3	A	G	5: 101,039,505 (GRCm39)		probably benign	Het
H2-Q4	A	G	17: 35,602,071 (GRCm39)	H311R	possibly damaging	Het
Hipk4	T	C	7: 27,223,372 (GRCm39)	L144S	probably damaging	Het
Hspa4	G	A	11: 53,161,806 (GRCm39)	P449S	probably benign	Het
Kif7	A	G	7: 79,363,638 (GRCm39)	V90A	probably damaging	Het
Klhl38	T	C	15: 58,185,953 (GRCm39)	I259V	probably benign	Het
Krt9	T	A	11: 100,080,503 (GRCm39)	E414D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrriq1	T	C	10: 103,051,972 (GRCm39)	E260G	probably damaging	Het
Macf1	A	G	4: 123,268,560 (GRCm39)	S4689P	probably damaging	Het
Manba	G	A	3: 135,269,023 (GRCm39)	E643K	possibly damaging	Het
Mc3r	T	A	2: 172,090,799 (GRCm39)	L7Q	probably benign	Het
Mdga1	G	A	17: 30,057,453 (GRCm39)	P788S	probably damaging	Het
Or5d35	T	C	2: 87,855,105 (GRCm39)	F13S	probably damaging	Het
Or6c70	T	A	10: 129,709,855 (GRCm39)	Y257F	probably damaging	Het
Pcdh12	G	A	18: 38,416,667 (GRCm39)	R153*	probably null	Het
Prss41	G	A	17: 24,056,596 (GRCm39)	R160*	probably null	Het
Rae1	T	A	2: 172,848,666 (GRCm39)		probably benign	Het
Rbm17	T	A	2: 11,600,246 (GRCm39)		probably benign	Het
Recql4	A	T	15: 76,588,694 (GRCm39)	M1039K	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slit3	A	G	11: 35,566,806 (GRCm39)	Y1026C	probably damaging	Het
Tbl2	T	A	5: 135,185,375 (GRCm39)		probably null	Het
Tex2	G	A	11: 106,402,770 (GRCm39)	T1034I	unknown	Het
Tmem241	A	T	18: 12,200,167 (GRCm39)		probably benign	Het
Tmtc1	T	C	6: 148,256,389 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,930,242 (GRCm39)	I38N	probably damaging	Het
Trmt1	T	A	8: 85,421,846 (GRCm39)		probably benign	Het
Vps37d	G	A	5: 135,103,304 (GRCm39)	Q113*	probably null	Het
Zup1	T	C	10: 33,816,218 (GRCm39)	E242G	possibly damaging	Het

Other mutations in Plk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Plk3	APN	4	116,990,194 (GRCm39)	nonsense	probably null
IGL01647:Plk3	APN	4	116,987,554 (GRCm39)	missense	probably damaging	1.00
IGL02516:Plk3	APN	4	116,989,186 (GRCm39)	missense	probably damaging	0.99
IGL03340:Plk3	APN	4	116,990,125 (GRCm39)	missense	probably damaging	0.98
PIT4283001:Plk3	UTSW	4	116,990,489 (GRCm39)	missense	probably damaging	1.00
R0421:Plk3	UTSW	4	116,990,641 (GRCm39)	missense	probably damaging	1.00
R1074:Plk3	UTSW	4	116,988,955 (GRCm39)	missense	probably damaging	1.00
R1612:Plk3	UTSW	4	116,989,004 (GRCm39)	missense	probably damaging	1.00
R3901:Plk3	UTSW	4	116,990,633 (GRCm39)	missense	probably benign	0.13
R5232:Plk3	UTSW	4	116,986,317 (GRCm39)	missense	probably benign	0.04
R5486:Plk3	UTSW	4	116,987,600 (GRCm39)	nonsense	probably null
R5655:Plk3	UTSW	4	116,988,677 (GRCm39)	missense	probably damaging	1.00
R6612:Plk3	UTSW	4	116,989,934 (GRCm39)	nonsense	probably null
R7127:Plk3	UTSW	4	116,987,767 (GRCm39)	missense	probably benign	0.39
R7380:Plk3	UTSW	4	116,988,350 (GRCm39)	missense	probably benign
R7748:Plk3	UTSW	4	116,988,925 (GRCm39)	missense	probably damaging	1.00
R7839:Plk3	UTSW	4	116,986,527 (GRCm39)	missense	probably damaging	1.00
R8762:Plk3	UTSW	4	116,989,090 (GRCm39)	critical splice donor site	probably benign
R9124:Plk3	UTSW	4	116,989,090 (GRCm39)	critical splice donor site	probably benign
R9126:Plk3	UTSW	4	116,989,090 (GRCm39)	critical splice donor site	probably benign
R9132:Plk3	UTSW	4	116,989,090 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCTCGGTGCAACTCTATC -3'
(R):5'- TACACCAAGGGTCGCTTGTTG -3'

Sequencing Primer
(F):5'- CTATCTCATTTAGGATCTGCGACAGG -3'
(R):5'- TCCGGGGTAGCGTTGAC -3'

Posted On

2015-04-02