Mutagenetix > Incidental Mutation

Incidental Mutation 'R6776:Plk2'

531310

Institutional Source

Beutler Lab

Gene Symbol

Plk2

Ensembl Gene

ENSMUSG00000021701

Gene Name

polo like kinase 2

Synonyms

Snk

MMRRC Submission

044892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110531580-110537378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110536325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 592 (I592T)

Ref Sequence

ENSEMBL: ENSMUSP00000022212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022212]

AlphaFold

P53351

Predicted Effect

probably benign
Transcript: ENSMUST00000022212
AA Change: I592T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: I592T

Domain	Start	End	E-Value	Type
low complexity region	54	62	N/A	INTRINSIC
S_TKc	79	331	7.08e-97	SMART
Blast:STYKc	335	383	9e-7	BLAST
low complexity region	448	464	N/A	INTRINSIC
Pfam:POLO_box	508	569	2.5e-19	PFAM
Pfam:POLO_box	604	673	1.3e-17	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Inactivation of this gene results in impaired embryonic growth and placental defects due to increased cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	A	G	8: 10,038,075 (GRCm39)	H224R	probably benign	Het
Anapc10	T	C	8: 80,446,374 (GRCm39)	F68S	probably damaging	Het
Arid2	A	G	15: 96,268,830 (GRCm39)	N981S	probably benign	Het
Bmerb1	T	A	16: 13,804,670 (GRCm39)	S6T	possibly damaging	Het
Cfap73	A	G	5: 120,772,276 (GRCm39)	F9L	probably damaging	Het
Chd3	A	C	11: 69,245,296 (GRCm39)	L1141V	probably damaging	Het
Daam1	C	T	12: 72,036,582 (GRCm39)	L1052F	possibly damaging	Het
Dmxl1	C	T	18: 50,027,041 (GRCm39)	R2050C	probably damaging	Het
Dpp10	G	A	1: 123,295,385 (GRCm39)	Q552*	probably null	Het
Dysf	A	G	6: 84,041,876 (GRCm39)	D160G	possibly damaging	Het
Ecrg4	C	A	1: 43,781,551 (GRCm39)	N144K	probably damaging	Het
Firrm	T	C	1: 163,804,318 (GRCm39)	I338M	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Ftcd	T	C	10: 76,425,073 (GRCm39)	I518T	probably benign	Het
Gapdh	A	G	6: 125,139,236 (GRCm39)	S248P	probably damaging	Het
Gm5592	C	G	7: 40,939,153 (GRCm39)	P812A	probably damaging	Het
Grik2	G	A	10: 49,232,085 (GRCm39)	L482F	probably damaging	Het
Gzmg	C	T	14: 56,394,288 (GRCm39)	G202D	probably damaging	Het
Hectd4	G	A	5: 121,491,574 (GRCm39)	A3671T	possibly damaging	Het
Hexa	G	T	9: 59,465,355 (GRCm39)	W203C	probably damaging	Het
Igdcc4	A	T	9: 65,042,700 (GRCm39)	T1217S	probably benign	Het
Ipo7	A	G	7: 109,646,272 (GRCm39)	D557G	probably damaging	Het
Irx3	T	A	8: 92,526,463 (GRCm39)	T414S	probably benign	Het
Jakmip1	G	A	5: 37,344,498 (GRCm39)	E1313K	probably damaging	Het
Kbtbd12	T	C	6: 88,595,248 (GRCm39)	D194G	probably damaging	Het
Klk6	T	C	7: 43,476,298 (GRCm39)	L46P	probably damaging	Het
Krt86	T	C	15: 101,374,817 (GRCm39)	I329T	probably benign	Het
Mroh5	A	G	15: 73,661,817 (GRCm39)		probably null	Het
Mtrf1	T	C	14: 79,650,521 (GRCm39)	V323A	probably damaging	Het
Oas3	A	T	5: 120,896,939 (GRCm39)	I894N	probably damaging	Het
Oplah	C	T	15: 76,185,053 (GRCm39)	V887I	possibly damaging	Het
Pag1	T	C	3: 9,764,848 (GRCm39)	T102A	probably benign	Het
Pcnx1	C	T	12: 82,009,496 (GRCm39)	A1181V	possibly damaging	Het
Pkdrej	G	T	15: 85,701,510 (GRCm39)	Y1475*	probably null	Het
Pla2g5	A	G	4: 138,527,964 (GRCm39)	S101P	probably benign	Het
Plekha4	C	A	7: 45,184,241 (GRCm39)	A76E	probably damaging	Het
Ppp2r3c	T	A	12: 55,345,252 (GRCm39)	R79*	probably null	Het
Ppp2r3d	A	T	9: 101,090,061 (GRCm39)	H87Q	probably benign	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prrt4	G	T	6: 29,176,551 (GRCm39)	T258K	possibly damaging	Het
Rhpn2	T	A	7: 35,083,194 (GRCm39)		probably null	Het
Slc11a1	T	A	1: 74,423,244 (GRCm39)	I365N	probably damaging	Het
Slc7a7	C	T	14: 54,612,108 (GRCm39)	G265D	possibly damaging	Het
Thsd7a	T	A	6: 12,555,636 (GRCm39)	T83S	possibly damaging	Het
Tln2	A	G	9: 67,170,187 (GRCm39)	S1989P	probably damaging	Het
Tnfaip3	T	G	10: 18,881,324 (GRCm39)	T321P	probably benign	Het
Tnrc6b	C	T	15: 80,808,320 (GRCm39)	P1623L	possibly damaging	Het
Trpa1	T	C	1: 14,982,601 (GRCm39)	N85S	probably benign	Het
Trrap	C	T	5: 144,788,066 (GRCm39)	R3544*	probably null	Het
Ttf2	A	T	3: 100,859,869 (GRCm39)	V695E	probably benign	Het
Ttll4	A	G	1: 74,720,512 (GRCm39)	E509G	probably damaging	Het
Vdr	T	C	15: 97,767,709 (GRCm39)	I94V	probably damaging	Het
Wdfy3	G	T	5: 102,031,911 (GRCm39)	Q2304K	possibly damaging	Het
Zfp663	T	C	2: 165,200,935 (GRCm39)	Y33C	probably damaging	Het

Other mutations in Plk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Plk2	APN	13	110,535,298 (GRCm39)	missense	probably benign	0.18
IGL00586:Plk2	APN	13	110,532,912 (GRCm39)	missense	possibly damaging	0.61
IGL00798:Plk2	APN	13	110,534,568 (GRCm39)	missense	probably benign	0.00
IGL01450:Plk2	APN	13	110,532,858 (GRCm39)	missense	probably damaging	1.00
IGL01722:Plk2	APN	13	110,535,976 (GRCm39)	missense	probably benign	0.00
IGL01937:Plk2	APN	13	110,535,588 (GRCm39)	missense	possibly damaging	0.80
IGL01945:Plk2	APN	13	110,535,588 (GRCm39)	missense	possibly damaging	0.80
IGL01993:Plk2	APN	13	110,535,731 (GRCm39)	missense	probably damaging	1.00
IGL02231:Plk2	APN	13	110,536,603 (GRCm39)	missense	probably benign	0.01
IGL03059:Plk2	APN	13	110,535,668 (GRCm39)	missense	probably benign	0.42
Mite	UTSW	13	110,532,570 (GRCm39)	nonsense	probably null
R0189:Plk2	UTSW	13	110,535,997 (GRCm39)	missense	probably damaging	1.00
R0324:Plk2	UTSW	13	110,534,242 (GRCm39)	missense	probably benign	0.08
R1108:Plk2	UTSW	13	110,536,023 (GRCm39)	missense	probably damaging	0.99
R1422:Plk2	UTSW	13	110,536,023 (GRCm39)	missense	probably damaging	0.99
R1513:Plk2	UTSW	13	110,536,622 (GRCm39)	missense	probably benign	0.45
R2987:Plk2	UTSW	13	110,534,243 (GRCm39)	missense	probably benign	0.03
R4050:Plk2	UTSW	13	110,536,400 (GRCm39)	missense	probably damaging	1.00
R4211:Plk2	UTSW	13	110,532,871 (GRCm39)	missense	probably damaging	0.98
R4278:Plk2	UTSW	13	110,532,637 (GRCm39)	missense	probably benign	0.15
R4777:Plk2	UTSW	13	110,534,307 (GRCm39)	missense	probably benign
R5121:Plk2	UTSW	13	110,535,958 (GRCm39)	missense	probably benign	0.01
R5677:Plk2	UTSW	13	110,535,591 (GRCm39)	missense	possibly damaging	0.83
R6240:Plk2	UTSW	13	110,536,568 (GRCm39)	missense	probably damaging	1.00
R6240:Plk2	UTSW	13	110,536,008 (GRCm39)	missense	probably damaging	1.00
R6436:Plk2	UTSW	13	110,532,570 (GRCm39)	nonsense	probably null
R6596:Plk2	UTSW	13	110,534,296 (GRCm39)	missense	probably benign	0.37
R6938:Plk2	UTSW	13	110,533,214 (GRCm39)	nonsense	probably null
R7556:Plk2	UTSW	13	110,533,122 (GRCm39)	splice site	probably null
R8927:Plk2	UTSW	13	110,535,750 (GRCm39)	missense	probably damaging	1.00
R8928:Plk2	UTSW	13	110,535,750 (GRCm39)	missense	probably damaging	1.00
R9043:Plk2	UTSW	13	110,533,194 (GRCm39)	missense	probably damaging	0.97
R9063:Plk2	UTSW	13	110,532,920 (GRCm39)	missense	possibly damaging	0.67
R9512:Plk2	UTSW	13	110,536,673 (GRCm39)	missense	probably damaging	0.96
R9546:Plk2	UTSW	13	110,535,301 (GRCm39)	missense	possibly damaging	0.84
Z1177:Plk2	UTSW	13	110,531,793 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ATCTTAGATGCAGTGCAGAGAGTC -3'
(R):5'- CACAGACATTAGAACTTGCTAAGC -3'

Sequencing Primer
(F):5'- GTCAGCATCTCTTTGAGATAGAGCC -3'
(R):5'- CAAGAAGTAATCAAGGTTCTGCC -3'

Posted On

2018-08-29