Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Plk2'

393057

Institutional Source

Beutler Lab

Gene Symbol

Plk2

Ensembl Gene

ENSMUSG00000021701

Gene Name

polo like kinase 2

Synonyms

Snk

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110531580-110537378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110535958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 554 (P554L)

Ref Sequence

ENSEMBL: ENSMUSP00000022212 (fasta)

Gene Model

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

AlphaFold

P53351

Predicted Effect

probably benign
Transcript: ENSMUST00000022212
AA Change: P554L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: P554L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225340

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,171,662 (GRCm39)	I234T	probably damaging	Het
Adam24	A	G	8: 41,132,550 (GRCm39)	E6G	probably damaging	Het
Amz1	A	G	5: 140,729,919 (GRCm39)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,989,201 (GRCm39)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,509,846 (GRCm39)	N8T	probably benign	Het
Arsi	T	G	18: 61,050,511 (GRCm39)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,326,024 (GRCm39)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,154,350 (GRCm39)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,404,009 (GRCm39)	T77I	probably benign	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cd163	T	C	6: 124,294,948 (GRCm39)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,854,192 (GRCm39)		probably null	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Chn2	C	T	6: 54,195,546 (GRCm39)	L72F	possibly damaging	Het
Cimip4	C	T	15: 78,270,373 (GRCm39)	E132K	probably benign	Het
Cntn2	C	A	1: 132,444,798 (GRCm39)	E363*	probably null	Het
Crebbp	T	C	16: 3,911,375 (GRCm39)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cts3	A	C	13: 61,715,409 (GRCm39)	I141M	probably benign	Het
Cwc27	A	T	13: 104,940,861 (GRCm39)	V166D	probably damaging	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Dnah8	A	G	17: 31,029,327 (GRCm39)	T4099A	probably benign	Het
Eml6	A	G	11: 29,694,606 (GRCm39)	F1953L	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
Fbln1	A	G	15: 85,121,872 (GRCm39)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gcat	T	C	15: 78,919,482 (GRCm39)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,612,926 (GRCm39)		probably null	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Golgb1	T	C	16: 36,739,620 (GRCm39)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,041,165 (GRCm39)	I533L	probably damaging	Het
Gypa	A	T	8: 81,222,977 (GRCm39)	Y27F	unknown	Het
Hipk4	G	A	7: 27,228,917 (GRCm39)	V456I	probably benign	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Hspa1b	A	T	17: 35,176,980 (GRCm39)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,889,495 (GRCm39)	T827A	probably benign	Het
Igkv1-35	T	C	6: 69,988,119 (GRCm39)	N58S	probably benign	Het
Kat6b	A	T	14: 21,669,326 (GRCm39)	H297L	probably damaging	Het
Kirrel3	G	T	9: 34,924,601 (GRCm39)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,315,082 (GRCm39)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,546,168 (GRCm39)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Mill2	G	A	7: 18,590,591 (GRCm39)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,039,344 (GRCm39)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo15b	C	T	11: 115,776,880 (GRCm39)	R867W	probably damaging	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Nip7	A	G	8: 107,783,589 (GRCm39)	E8G	possibly damaging	Het
Optn	T	A	2: 5,050,917 (GRCm39)	I155F	probably benign	Het
Or2f1b	T	A	6: 42,739,931 (GRCm39)	L315*	probably null	Het
Or4f62	A	T	2: 111,986,631 (GRCm39)	M112L	possibly damaging	Het
Or52e4	A	G	7: 104,705,689 (GRCm39)	T79A	possibly damaging	Het
Or5c1	T	G	2: 37,222,601 (GRCm39)	F281V	probably damaging	Het
Or6b6	T	C	7: 106,571,438 (GRCm39)	I38V	probably benign	Het
Papolb	A	T	5: 142,514,592 (GRCm39)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,666,197 (GRCm39)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,454,170 (GRCm39)	N183K	probably benign	Het
Pde12	G	T	14: 26,390,577 (GRCm39)	S44*	probably null	Het
Peg3	T	C	7: 6,713,288 (GRCm39)	K645E	probably benign	Het
Pkd1	C	T	17: 24,792,437 (GRCm39)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,525,200 (GRCm39)	E21K	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polg	A	T	7: 79,114,353 (GRCm39)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,328,446 (GRCm39)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,073,004 (GRCm39)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,104,020 (GRCm39)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,887,479 (GRCm39)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,277,836 (GRCm39)	H399Q	probably benign	Het
Psg25	T	A	7: 18,260,461 (GRCm39)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,851,256 (GRCm39)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,392,676 (GRCm39)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,376,930 (GRCm39)	F144S	probably damaging	Het
Rfwd3	A	C	8: 112,009,385 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,581,109 (GRCm39)	I117T	probably damaging	Het
Sars2	A	T	7: 28,447,333 (GRCm39)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,502,110 (GRCm39)	H256L	probably benign	Het
Sgcz	G	A	8: 38,006,821 (GRCm39)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Spen	T	A	4: 141,203,410 (GRCm39)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm39)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,242,641 (GRCm39)	E1482G	possibly damaging	Het
Tex15	A	T	8: 34,061,794 (GRCm39)	K408I	probably damaging	Het
Trem1	T	A	17: 48,539,864 (GRCm39)	F14L	probably null	Het
Trim26	G	T	17: 37,161,958 (GRCm39)	E126*	probably null	Het
Trpv3	T	C	11: 73,168,660 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm39)	L301F	probably benign	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Vill	C	T	9: 118,899,093 (GRCm39)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,576,015 (GRCm39)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,273,815 (GRCm39)	S21P	probably benign	Het
Wapl	A	G	14: 34,399,119 (GRCm39)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Zfp592	T	C	7: 80,673,309 (GRCm39)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,631,932 (GRCm39)		probably null	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zranb1	A	G	7: 132,551,916 (GRCm39)	E215G	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
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
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'- TCAACAACGGGGCTCACATG -3'
(R):5'- TGCATCTAAGATAAGCCCTGAG -3'

Sequencing Primer
(F):5'- ACATGAGCCTCCTTCCGGAC -3'
(R):5'- TAAGATAAGCCCTGAGAAGCTAAAC -3'

Posted On

2016-06-15