Mutagenetix > Incidental Mutation

Incidental Mutation 'R7556:Plk2'

586002

Institutional Source

Beutler Lab

Gene Symbol

Plk2

Ensembl Gene

ENSMUSG00000021701

Gene Name

polo like kinase 2

Synonyms

Snk

MMRRC Submission

045624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110531580-110537378 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 110533122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022212 (fasta)

Gene Model

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

AlphaFold

P53351

Predicted Effect

probably null
Transcript: ENSMUST00000022212

SMART Domains

Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,221,611 (GRCm39)	W11*	probably null	Het
A2ml1	A	G	6: 128,546,927 (GRCm39)	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,195,358 (GRCm39)	Y592N	probably benign	Het
Adh6b	C	T	3: 138,058,546 (GRCm39)	T76I	probably damaging	Het
Aebp2	C	A	6: 140,623,137 (GRCm39)	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,028,839 (GRCm39)	D134G		Het
Atf7ip	T	C	6: 136,538,239 (GRCm39)	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,680,991 (GRCm39)	D832G	probably benign	Het
Atrnl1	G	A	19: 57,643,278 (GRCm39)	V389I	probably benign	Het
Bahcc1	T	C	11: 120,178,589 (GRCm39)	S2383P	probably damaging	Het
Brd9	A	G	13: 74,092,886 (GRCm39)	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,348,419 (GRCm39)	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,018,491 (GRCm39)		probably benign	Het
Cdc42ep4	C	G	11: 113,619,366 (GRCm39)	E342Q	probably damaging	Het
Celf3	C	T	3: 94,387,590 (GRCm39)	T54M	probably damaging	Het
Cenpn	T	C	8: 117,664,008 (GRCm39)	Y267H	probably damaging	Het
Chrnb4	T	C	9: 54,942,339 (GRCm39)	T312A	probably benign	Het
Clcn3	T	A	8: 61,382,521 (GRCm39)	T383S	probably damaging	Het
Cln3	T	C	7: 126,174,242 (GRCm39)	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,851,761 (GRCm39)	L50P	probably damaging	Het
Cnot6	T	C	11: 49,566,144 (GRCm39)	N512S	probably benign	Het
Col7a1	T	A	9: 108,811,533 (GRCm39)		probably null	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,389 (GRCm39)	I1260V	probably null	Het
Dock2	G	T	11: 34,611,778 (GRCm39)	T195K	probably benign	Het
Dpp9	A	T	17: 56,497,012 (GRCm39)	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,674,741 (GRCm39)	N31Y	probably benign	Het
Frat1	G	A	19: 41,818,959 (GRCm39)	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,367,208 (GRCm39)	F228S		Het
Golgb1	A	T	16: 36,736,155 (GRCm39)	M1842L	probably benign	Het
Got1	A	T	19: 43,491,469 (GRCm39)	M327K	probably damaging	Het
H4c9	A	G	13: 22,225,414 (GRCm39)	I27T	probably damaging	Het
Hexa	T	A	9: 59,470,582 (GRCm39)	L468Q	probably damaging	Het
Ift57	G	A	16: 49,526,491 (GRCm39)	V178I	probably benign	Het
Kbtbd13	T	C	9: 65,298,757 (GRCm39)	T60A	probably benign	Het
Klk1b5	A	G	7: 43,496,649 (GRCm39)	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,759,666 (GRCm39)	G16C	unknown	Het
Lamb3	T	C	1: 193,014,757 (GRCm39)	S639P	probably benign	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mcf2l	A	G	8: 13,023,071 (GRCm39)	T86A	probably damaging	Het
Mecom	G	T	3: 30,041,220 (GRCm39)	H125N	probably benign	Het
Med18	T	C	4: 132,187,247 (GRCm39)	H84R	probably benign	Het
Muc2	A	G	7: 141,307,439 (GRCm39)	Y798C		Het
Mycbp	T	C	4: 123,799,060 (GRCm39)	Y17H	probably damaging	Het
Nacad	C	T	11: 6,551,272 (GRCm39)	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,320,794 (GRCm39)	V1092I	probably damaging	Het
Nomo1	A	G	7: 45,715,642 (GRCm39)	E696G	probably damaging	Het
Notch4	G	A	17: 34,794,444 (GRCm39)	C741Y	probably damaging	Het
Or10g7	A	G	9: 39,905,978 (GRCm39)	N291D	probably damaging	Het
Or6d12	C	T	6: 116,493,697 (GRCm39)	Q320*	probably null	Het
Osbpl10	C	A	9: 115,036,692 (GRCm39)	H229Q	probably damaging	Het
Pif1	A	T	9: 65,496,993 (GRCm39)		probably null	Het
Ppp1r42	T	C	1: 10,065,408 (GRCm39)	H172R	probably benign	Het
Ring1	A	G	17: 34,240,688 (GRCm39)	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,117,863 (GRCm39)	Y475D	probably damaging	Het
Sbf2	T	A	7: 109,913,260 (GRCm39)	K1671N	probably benign	Het
Sema6d	A	G	2: 124,496,109 (GRCm39)	N51S	probably damaging	Het
Setx	C	A	2: 29,036,505 (GRCm39)	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,425,162 (GRCm39)	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,843,119 (GRCm39)	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,140,514 (GRCm39)	K173*	probably null	Het
Smc2	T	C	4: 52,457,379 (GRCm39)	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,849,798 (GRCm39)	M777V	probably benign	Het
Stkld1	A	T	2: 26,837,307 (GRCm39)	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,799,857 (GRCm39)	V93A		Het
Tbx20	T	C	9: 24,661,573 (GRCm39)		probably null	Het
Trbv20	G	A	6: 41,165,715 (GRCm39)	V47I	probably benign	Het
Trip4	A	T	9: 65,782,155 (GRCm39)	C192*	probably null	Het
Tsbp1	A	T	17: 34,656,691 (GRCm39)	I103F	unknown	Het
Tulp2	A	G	7: 45,168,005 (GRCm39)		probably null	Het
Ush2a	C	A	1: 188,689,690 (GRCm39)	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927 (GRCm39)	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,898,093 (GRCm39)	N369K	probably benign	Het
Vmn2r59	A	T	7: 41,695,233 (GRCm39)	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Xpot	A	G	10: 121,449,411 (GRCm39)	S30P	probably benign	Het
Zfp947	T	C	17: 22,364,597 (GRCm39)	Y359C	probably benign	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
R6776:Plk2	UTSW	13	110,536,325 (GRCm39)	missense	probably benign
R6938:Plk2	UTSW	13	110,533,214 (GRCm39)	nonsense	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'- AGTAGAAGGGTAAGTGTTGACTCC -3'
(R):5'- TCCAGTGAAGGCACCCATTC -3'

Sequencing Primer
(F):5'- AAGTGTTGACTCCTGGGTCAGC -3'
(R):5'- GTGAAGGCACCCATTCAAAAAGCTAG -3'

Posted On

2019-10-18