Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02231:Plk2'

285715

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plk2

Ensembl Gene

ENSMUSG00000021701

Gene Name

polo like kinase 2

Synonyms

Snk

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

110395046-110400844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110400069 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 632 (C632S)

Ref Sequence

ENSEMBL: ENSMUSP00000022212 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022212
AA Change: C632S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: C632S

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Plk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Plk2	APN	13	110398764	missense	probably benign	0.18
IGL00586:Plk2	APN	13	110396378	missense	possibly damaging	0.61
IGL00798:Plk2	APN	13	110398034	missense	probably benign	0.00
IGL01450:Plk2	APN	13	110396324	missense	probably damaging	1.00
IGL01722:Plk2	APN	13	110399442	missense	probably benign	0.00
IGL01937:Plk2	APN	13	110399054	missense	possibly damaging	0.80
IGL01945:Plk2	APN	13	110399054	missense	possibly damaging	0.80
IGL01993:Plk2	APN	13	110399197	missense	probably damaging	1.00
IGL03059:Plk2	APN	13	110399134	missense	probably benign	0.42
Mite	UTSW	13	110396036	nonsense	probably null
R0189:Plk2	UTSW	13	110399463	missense	probably damaging	1.00
R0324:Plk2	UTSW	13	110397708	missense	probably benign	0.08
R1108:Plk2	UTSW	13	110399489	missense	probably damaging	0.99
R1422:Plk2	UTSW	13	110399489	missense	probably damaging	0.99
R1513:Plk2	UTSW	13	110400088	missense	probably benign	0.45
R2987:Plk2	UTSW	13	110397709	missense	probably benign	0.03
R4050:Plk2	UTSW	13	110399866	missense	probably damaging	1.00
R4211:Plk2	UTSW	13	110396337	missense	probably damaging	0.98
R4278:Plk2	UTSW	13	110396103	missense	probably benign	0.15
R4777:Plk2	UTSW	13	110397773	missense	probably benign
R5121:Plk2	UTSW	13	110399424	missense	probably benign	0.01
R5677:Plk2	UTSW	13	110399057	missense	possibly damaging	0.83
R6240:Plk2	UTSW	13	110399474	missense	probably damaging	1.00
R6240:Plk2	UTSW	13	110400034	missense	probably damaging	1.00
R6436:Plk2	UTSW	13	110396036	nonsense	probably null
R6596:Plk2	UTSW	13	110397762	missense	probably benign	0.37
R6776:Plk2	UTSW	13	110399791	missense	probably benign
R6938:Plk2	UTSW	13	110396680	nonsense	probably null
R7556:Plk2	UTSW	13	110396588	splice site	probably null
Z1177:Plk2	UTSW	13	110395259	missense	probably benign	0.06

Posted On

2015-04-16