Mutagenetix > Incidental Mutation

Incidental Mutation 'R5677:Plk2'

442844

Institutional Source

Beutler Lab

Gene Symbol

Plk2

Ensembl Gene

ENSMUSG00000021701

Gene Name

polo like kinase 2

Synonyms

Snk

MMRRC Submission

043316-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5677 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110395046-110400844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110399057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 471 (T471K)

Ref Sequence

ENSEMBL: ENSMUSP00000022212 (fasta)

Gene Model

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

AlphaFold

P53351

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022212
AA Change: T471K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: T471K

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,986,229	V22I	probably benign	Het
4930430A15Rik	T	C	2: 111,211,565	T342A	probably benign	Het
4931423N10Rik	T	A	2: 23,212,718	L156Q	probably damaging	Het
Abca8a	A	T	11: 110,038,399	V1296D	possibly damaging	Het
Abca8b	C	T	11: 109,940,861	S1328N	probably damaging	Het
Adcy1	G	A	11: 7,161,914	M926I	probably damaging	Het
Aff4	G	T	11: 53,400,275	M687I	possibly damaging	Het
Agbl2	T	A	2: 90,807,978	Y636N	possibly damaging	Het
Agtr1a	A	T	13: 30,381,584	I211F	probably damaging	Het
Alkbh8	T	G	9: 3,385,147	S480A	possibly damaging	Het
Ankrd13b	A	T	11: 77,477,544	V84E	probably damaging	Het
Ap3b1	C	T	13: 94,528,196	T881I	unknown	Het
Apbb1	A	C	7: 105,559,246	D617E	probably damaging	Het
Apobec4	A	G	1: 152,757,282	R354G	probably benign	Het
BC003331	G	A	1: 150,374,837	L319F	probably damaging	Het
Brdt	T	G	5: 107,348,617	C198W	possibly damaging	Het
Cacna1b	G	T	2: 24,679,358	H851Q	possibly damaging	Het
Car2	G	T	3: 14,898,055	V217F	possibly damaging	Het
Ccdc24	A	C	4: 117,869,880		probably benign	Het
Chodl	C	A	16: 78,941,315	A57E	probably damaging	Het
Clgn	G	T	8: 83,409,538	C185F	probably damaging	Het
Cltc	G	T	11: 86,705,242	N1223K	probably damaging	Het
Cnot10	T	C	9: 114,629,093	N115S	probably damaging	Het
Col12a1	T	C	9: 79,699,321	R607G	probably damaging	Het
Cpd	A	G	11: 76,799,825	V835A	probably benign	Het
Csmd3	G	C	15: 48,622,051	L153V	probably damaging	Het
Ctr9	A	G	7: 111,044,002	H527R	probably benign	Het
Cwc22	G	A	2: 77,929,443	R87W	probably damaging	Het
D930020B18Rik	T	A	10: 121,669,201	N107K	probably benign	Het
Dgkg	C	A	16: 22,570,171	V418L	probably benign	Het
Dhx40	A	G	11: 86,800,963		probably null	Het
Diaph1	A	T	18: 37,855,951	M910K	probably damaging	Het
Diras2	T	A	13: 52,507,675	M199L	possibly damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock5	T	A	14: 67,777,603	Q1302H	probably benign	Het
Dync1i2	T	C	2: 71,228,623	S90P	probably benign	Het
E2f8	A	T	7: 48,867,195	V812E	probably damaging	Het
Egfem1	C	A	3: 29,690,174	Q521K	probably damaging	Het
Fbxl18	A	T	5: 142,878,720	C699*	probably null	Het
Fgf3	C	T	7: 144,838,783	R26*	probably null	Het
Fpr-rs7	T	G	17: 20,114,103	I42L	probably benign	Het
Gm13101	A	T	4: 143,965,138	D338E	possibly damaging	Het
Gm3159	T	A	14: 4,398,582	M91K	probably damaging	Het
Gprin3	A	G	6: 59,353,892	S477P	possibly damaging	Het
Grm8	A	T	6: 27,761,204		probably null	Het
Hepacam2	A	T	6: 3,466,142	D420E	probably damaging	Het
Hmcn1	A	T	1: 150,609,778	W4358R	probably benign	Het
Ifna6	G	A	4: 88,827,719	A102T	probably benign	Het
Ighv2-2	T	C	12: 113,588,522	Q32R	probably benign	Het
Igkv1-131	T	A	6: 67,766,258	Q47L	possibly damaging	Het
Il16	T	C	7: 83,674,553	E263G	probably damaging	Het
Kansl1	A	T	11: 104,335,148	C981S	probably benign	Het
Lrp1	A	T	10: 127,574,429	F1483I	probably damaging	Het
Ltf	T	C	9: 111,020,912	M1T	probably null	Het
Ly75	C	T	2: 60,299,082	R1653H	probably benign	Het
Macrod2	T	C	2: 142,176,667	F240S	probably damaging	Het
Man1c1	T	C	4: 134,569,060	E433G	probably damaging	Het
Mansc4	A	T	6: 147,081,549	M130K	probably benign	Het
Mccc1	C	T	3: 35,990,048		probably null	Het
Mink1	G	T	11: 70,605,165	R75L	possibly damaging	Het
Mst1	A	G	9: 108,081,286	D65G	probably damaging	Het
Myo9b	C	T	8: 71,343,686	A857V	probably damaging	Het
Ndufa4	A	G	6: 11,900,575	V70A	probably benign	Het
Npat	T	A	9: 53,555,100	S230T	probably benign	Het
Nr1d1	A	G	11: 98,771,308	Y167H	probably damaging	Het
Oca2	A	G	7: 56,414,462	D735G	probably damaging	Het
Olfr13	T	C	6: 43,174,331	V115A	probably benign	Het
Olfr1359	C	T	13: 21,703,223	T74I	probably benign	Het
Olfr1383	A	G	11: 49,523,944	T74A	probably damaging	Het
Olfr835	T	A	9: 19,035,558	I145N	possibly damaging	Het
Otop1	A	G	5: 38,300,163	Y422C	probably damaging	Het
Pde4dip	G	A	3: 97,841,648	R126*	probably null	Het
Pdp2	C	T	8: 104,594,688	P390S	probably damaging	Het
Pds5b	A	T	5: 150,716,461	T14S	possibly damaging	Het
Pfkp	T	C	13: 6,588,595	E580G	probably damaging	Het
Piezo2	A	T	18: 63,117,696	L212Q	possibly damaging	Het
Piezo2	G	C	18: 63,117,697	L444V	probably benign	Het
Pla2g4d	T	A	2: 120,278,948	T207S	possibly damaging	Het
Ppp1r3g	G	A	13: 35,969,262	E222K	probably damaging	Het
Prkcg	A	G	7: 3,323,458	D480G	probably damaging	Het
Pxdc1	T	A	13: 34,652,195	T81S	probably benign	Het
Rnf150	A	T	8: 83,003,599	K253*	probably null	Het
Rsg1	C	T	4: 141,219,866	P186L	probably benign	Het
Sae1	T	C	7: 16,370,462		probably null	Het
Scin	C	T	12: 40,063,259	D538N	probably damaging	Het
Serpinb3c	C	A	1: 107,271,803	K329N	probably damaging	Het
Sgo2b	T	A	8: 63,926,974	K941N	possibly damaging	Het
Six1	C	T	12: 73,046,284	S48N	possibly damaging	Het
Slc39a8	G	A	3: 135,884,688	G381R	probably damaging	Het
Slc9b1	A	G	3: 135,357,559	K35E	unknown	Het
Srek1	C	T	13: 103,759,244	A274T	probably damaging	Het
Steap2	A	T	5: 5,677,497	Y279*	probably null	Het
Svil	T	A	18: 5,046,823	L110*	probably null	Het
Syncrip	T	C	9: 88,456,709		probably benign	Het
Tcf20	A	G	15: 82,853,242	I1336T	probably benign	Het
Tecpr1	T	A	5: 144,218,633	K36*	probably null	Het
Tenm2	A	G	11: 36,141,683	V670A	probably damaging	Het
Thbd	G	A	2: 148,407,366	T194I	probably damaging	Het
Tm9sf2	A	T	14: 122,151,962		probably null	Het
Tmtc4	A	T	14: 122,950,499	I225N	probably damaging	Het
Tpp1	C	T	7: 105,747,536	V425M	probably damaging	Het
Trbc2	T	A	6: 41,547,812	Y144*	probably null	Het
Trps1	T	C	15: 50,846,108	D282G	probably damaging	Het
Tsc22d4	T	A	5: 137,747,142	S9R	probably damaging	Het
Upp1	T	A	11: 9,136,025	D287E	probably benign	Het
Uso1	A	C	5: 92,201,299	Q916H	probably damaging	Het
Uty	T	A	Y: 1,134,902	Y884F	probably damaging	Het
Vmn1r222	T	C	13: 23,232,780	R88G	probably damaging	Het
Vmn1r79	T	C	7: 12,177,001	V270A	possibly damaging	Het
Zbtb22	T	C	17: 33,917,735	S285P	probably benign	Het
Zfp385a	A	G	15: 103,318,065	V82A	probably damaging	Het
Zfp59	T	C	7: 27,854,169	F349L	probably benign	Het
Zfp780b	T	G	7: 27,962,799	H777P	probably benign	Het
Zfp82	T	C	7: 30,057,124	T178A	probably benign	Het
Zfp850	T	C	7: 27,989,088	Y565C	probably damaging	Het
Zfp957	A	G	14: 79,212,767	Y531H	probably damaging	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
IGL02231:Plk2	APN	13	110400069	missense	probably benign	0.01
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
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
R8927:Plk2	UTSW	13	110399216	missense	probably damaging	1.00
R8928:Plk2	UTSW	13	110399216	missense	probably damaging	1.00
R9043:Plk2	UTSW	13	110396660	missense	probably damaging	0.97
R9063:Plk2	UTSW	13	110396386	missense	possibly damaging	0.67
R9512:Plk2	UTSW	13	110400139	missense	probably damaging	0.96
R9546:Plk2	UTSW	13	110398767	missense	possibly damaging	0.84
Z1177:Plk2	UTSW	13	110395259	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCTAGCATCAGGGAAAAGGC -3'
(R):5'- TCCAAGATTTCATTAGCGCAACAG -3'

Sequencing Primer
(F):5'- CACCAAGGGACCGTGATCTC -3'
(R):5'- ACACACGTACTTTTTGTCCGGAAG -3'

Posted On

2016-11-09