Mutagenetix > Incidental Mutation

Incidental Mutation 'R7127:Plk3'

552378

Institutional Source

Beutler Lab

Gene Symbol

Plk3

Ensembl Gene

ENSMUSG00000028680

Gene Name

polo like kinase 3

Synonyms

Cnk

MMRRC Submission

045246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116985852-116991160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116987767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 429 (V429E)

Ref Sequence

ENSEMBL: ENSMUSP00000076130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062206] [ENSMUST00000076859] [ENSMUST00000134074] [ENSMUST00000143213] [ENSMUST00000144269] [ENSMUST00000153257] [ENSMUST00000183310]

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 benign
Transcript: ENSMUST00000076859
AA Change: V429E

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076130
Gene: ENSMUSG00000028680
AA Change: V429E

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

probably benign
Transcript: ENSMUST00000134074

SMART Domains

Protein: ENSMUSP00000114182
Gene: ENSMUSG00000047671

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143213

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

SMART Domains

Protein: ENSMUSP00000120476
Gene: ENSMUSG00000028680
AA Change: V390E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153257

SMART Domains

Protein: ENSMUSP00000121768
Gene: ENSMUSG00000073771

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:BACK	33	84	5e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000183310

SMART Domains

Protein: ENSMUSP00000138230
Gene: ENSMUSG00000073771

Domain	Start	End	E-Value	Type
BTB	29	124	1.82e-18	SMART
BACK	129	233	4.17e-8	SMART
low complexity region	260	280	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,931,825 (GRCm39)	T26I	probably benign	Het
Adam5	A	T	8: 25,300,797 (GRCm39)	I244N	probably damaging	Het
Adam7	A	G	14: 68,752,218 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,268,033 (GRCm39)	N204K	probably benign	Het
Arl13b	C	T	16: 62,622,102 (GRCm39)	G397D	probably damaging	Het
AU041133	T	C	10: 81,986,700 (GRCm39)	F118L	probably benign	Het
Brinp1	C	T	4: 68,711,260 (GRCm39)	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,272,160 (GRCm39)	V268I	probably benign	Het
Car15	T	C	16: 17,656,060 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,576,421 (GRCm39)	D89E	possibly damaging	Het
Cckar	T	A	5: 53,863,817 (GRCm39)	Y48F	probably damaging	Het
Cdyl	T	A	13: 36,040,651 (GRCm39)	S282T	probably benign	Het
Clca3a1	T	C	3: 144,711,806 (GRCm39)	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,045,695 (GRCm39)	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,460,462 (GRCm39)	F24S	probably damaging	Het
Duox2	C	T	2: 122,122,430 (GRCm39)	G565D	probably benign	Het
Ehbp1	A	T	11: 22,003,529 (GRCm39)	Y1073*	probably null	Het
Epg5	A	T	18: 78,072,140 (GRCm39)	N2384I	probably damaging	Het
Fam171b	A	G	2: 83,710,110 (GRCm39)	D594G	probably benign	Het
Flad1	A	G	3: 89,310,725 (GRCm39)	Y441H	probably damaging	Het
Fn1	T	C	1: 71,636,703 (GRCm39)	T2150A	probably benign	Het
Fnta	C	A	8: 26,497,231 (GRCm39)	R206L	probably damaging	Het
Gadd45b	A	T	10: 80,766,999 (GRCm39)	M95L	probably benign	Het
Gbp8	A	T	5: 105,165,578 (GRCm39)	H358Q	probably benign	Het
Glipr1l3	C	A	10: 111,983,995 (GRCm39)	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,829,903 (GRCm39)	I94T	possibly damaging	Het
Hunk	A	G	16: 90,272,779 (GRCm39)	D361G	probably damaging	Het
Igkv3-4	T	A	6: 70,649,155 (GRCm39)	Y51*	probably null	Het
Kif26a	C	T	12: 112,144,579 (GRCm39)	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,960,829 (GRCm39)	V413A	probably damaging	Het
Med6	C	T	12: 81,635,774 (GRCm39)	R86Q	probably damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Or6c66b	T	A	10: 129,376,936 (GRCm39)	C177S	probably damaging	Het
Plrg1	C	T	3: 82,967,222 (GRCm39)	P131L	probably damaging	Het
Plscr4	C	T	9: 92,372,831 (GRCm39)	R318*	probably null	Het
Rab34	A	T	11: 78,082,056 (GRCm39)	K152*	probably null	Het
Rasef	A	T	4: 73,662,369 (GRCm39)	S194T	probably damaging	Het
Rcc1	A	G	4: 132,062,107 (GRCm39)	S269P	probably damaging	Het
Resf1	T	C	6: 149,229,443 (GRCm39)	F830L	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scin	A	G	12: 40,155,071 (GRCm39)	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,525,200 (GRCm39)	M1V	probably null	Het
Smok3c	A	T	5: 138,062,971 (GRCm39)	I153F	probably damaging	Het
Spen	G	A	4: 141,203,419 (GRCm39)	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,426,446 (GRCm39)	M155K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sun2	T	C	15: 79,612,100 (GRCm39)	I528M	probably benign	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Taok2	G	T	7: 126,466,326 (GRCm39)	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,411,739 (GRCm39)	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,031,922 (GRCm39)	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,657,148 (GRCm39)	L696H	probably damaging	Het
Trank1	T	G	9: 111,194,864 (GRCm39)	S963A	possibly damaging	Het
Trf	A	G	9: 103,102,326 (GRCm39)	V184A	probably benign	Het
Ttll13	T	A	7: 79,903,406 (GRCm39)	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,849,455 (GRCm39)	T41P	probably benign	Het
Zfhx4	A	G	3: 5,478,104 (GRCm39)	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,124,853 (GRCm39)	H540Y	probably 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
R3813:Plk3	UTSW	4	116,990,647 (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
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'- AGTCAACCCACTTGCTGACC -3'
(R):5'- AGCTTGGTAGAGACAGCTGC -3'

Sequencing Primer
(F):5'- TTGCTGACCCACACCAGAGG -3'
(R):5'- ACAGCTGCCGAGGACAG -3'

Posted On

2019-05-15