Mutagenetix > Incidental Mutation

Incidental Mutation 'R5084:Plk5'

387324

Institutional Source

Beutler Lab

Gene Symbol

Plk5

Ensembl Gene

ENSMUSG00000035486

Gene Name

polo like kinase 5

Synonyms

6330514A18Rik

MMRRC Submission

042673-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5084 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

80192293-80201323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80194723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 149 (R149S)

Ref Sequence

ENSEMBL: ENSMUSP00000044400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039836] [ENSMUST00000105351]

AlphaFold

Q4FZD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039836
AA Change: R149S

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044400
Gene: ENSMUSG00000035486
AA Change: R149S

Domain	Start	End	E-Value	Type
low complexity region	4	11	N/A	INTRINSIC
S_TKc	27	283	2.41e-90	SMART
Pfam:POLO_box	425	486	4.9e-18	PFAM
low complexity region	583	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105351
AA Change: R145S

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100988
Gene: ENSMUSG00000035486
AA Change: R145S

Domain	Start	End	E-Value	Type
low complexity region	4	11	N/A	INTRINSIC
S_TKc	27	279	2.56e-94	SMART
Pfam:POLO_box	420	483	1.6e-17	PFAM
low complexity region	579	592	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152544

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,204,116 (GRCm39)	E59D	probably damaging	Het
Akap7	T	A	10: 25,155,640 (GRCm39)		probably benign	Het
Anpep	C	A	7: 79,476,618 (GRCm39)		probably null	Het
Aste1	T	A	9: 105,274,886 (GRCm39)	Y314*	probably null	Het
Ccdc183	G	A	2: 25,498,802 (GRCm39)	T497I	probably damaging	Het
Cd4	A	T	6: 124,847,402 (GRCm39)	I254N	probably damaging	Het
Crot	G	T	5: 9,019,994 (GRCm39)	H449Q	probably damaging	Het
Dact2	A	T	17: 14,418,214 (GRCm39)	W164R	possibly damaging	Het
Dapk3	C	A	10: 81,026,152 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbrsl1	G	A	5: 110,527,272 (GRCm39)		probably benign	Het
Flg	T	C	3: 93,184,922 (GRCm39)	F15L	probably damaging	Het
Fscn2	A	G	11: 120,252,686 (GRCm39)	D51G	probably damaging	Het
H2-Ob	G	T	17: 34,460,102 (GRCm39)	G71V	probably damaging	Het
Hmgcs1	T	C	13: 120,161,520 (GRCm39)	V104A	possibly damaging	Het
Hs3st4	G	T	7: 123,996,518 (GRCm39)	D395Y	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Ldlrad3	G	A	2: 101,900,329 (GRCm39)	R58C	probably damaging	Het
Lpin1	A	G	12: 16,626,983 (GRCm39)	S188P	probably damaging	Het
Mamdc2	G	T	19: 23,336,516 (GRCm39)	T331K	possibly damaging	Het
Matr3	G	A	18: 35,715,135 (GRCm39)	S195N	probably damaging	Het
Nktr	T	C	9: 121,577,176 (GRCm39)	Y390H	possibly damaging	Het
Notch3	C	T	17: 32,376,864 (GRCm39)		probably null	Het
Olfm3	T	C	3: 114,698,202 (GRCm39)		probably null	Het
Or10ak11	A	G	4: 118,686,767 (GRCm39)	V290A	probably damaging	Het
Or2a20	T	C	6: 43,194,594 (GRCm39)	L249P	probably damaging	Het
Or5h25	C	T	16: 58,930,436 (GRCm39)	C179Y	possibly damaging	Het
Or7e173	T	A	9: 19,938,551 (GRCm39)	I228F	probably damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pask	A	G	1: 93,249,819 (GRCm39)	V527A	probably benign	Het
Pcdha6	A	T	18: 37,102,016 (GRCm39)	N403I	probably damaging	Het
Peg3	T	C	7: 6,710,848 (GRCm39)	E1458G	probably damaging	Het
Pip4k2b	G	A	11: 97,610,569 (GRCm39)	T386M	probably damaging	Het
Pkd1l1	T	C	11: 8,892,004 (GRCm39)	M272V	probably benign	Het
Plcb4	A	G	2: 135,844,571 (GRCm39)	E163G	probably damaging	Het
Pou4f3	A	T	18: 42,528,933 (GRCm39)	Y292F	probably damaging	Het
Rasgef1c	A	G	11: 49,860,332 (GRCm39)	K272E	probably damaging	Het
Rbl2	C	T	8: 91,841,759 (GRCm39)	T942M	probably benign	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Smarca4	T	C	9: 21,572,059 (GRCm39)	L777P	probably damaging	Het
Smpd1	T	C	7: 105,206,185 (GRCm39)	Y438H	probably damaging	Het
Sorl1	T	C	9: 41,887,673 (GRCm39)	K2052R	probably benign	Het
Spata31d1c	C	A	13: 65,182,944 (GRCm39)	P162Q	probably damaging	Het
Spmip9	A	G	6: 70,892,688 (GRCm39)	S20P	possibly damaging	Het
Ston1	A	T	17: 88,944,002 (GRCm39)	E469D	probably benign	Het
Syde2	AGTTC	AGTTCGTTC	3: 145,707,164 (GRCm39)		probably null	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,846,836 (GRCm39)	L78Q	probably damaging	Het
Tas2r114	A	T	6: 131,666,251 (GRCm39)	L259*	probably null	Het
Topaz1	T	A	9: 122,577,883 (GRCm39)	H264Q	probably benign	Het
Vcl	G	T	14: 21,059,027 (GRCm39)	V548L	possibly damaging	Het
Vmn2r57	C	A	7: 41,075,974 (GRCm39)		probably null	Het
Vmn2r92	A	G	17: 18,405,439 (GRCm39)	*861W	probably null	Het
Ylpm1	T	G	12: 85,076,095 (GRCm39)	V940G	probably damaging	Het
Zfp236	A	G	18: 82,627,556 (GRCm39)	S1500P	probably damaging	Het
Zfp384	G	T	6: 125,000,642 (GRCm39)		probably benign	Het
Zfp786	T	C	6: 47,796,953 (GRCm39)	M662V	probably benign	Het

Other mutations in Plk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02136:Plk5	APN	10	80,199,001 (GRCm39)	critical splice donor site	probably null
IGL02605:Plk5	APN	10	80,198,896 (GRCm39)	missense	probably damaging	0.99
R0083:Plk5	UTSW	10	80,192,496 (GRCm39)	missense	possibly damaging	0.91
R0590:Plk5	UTSW	10	80,196,057 (GRCm39)	missense	probably damaging	1.00
R0783:Plk5	UTSW	10	80,196,964 (GRCm39)	missense	probably benign
R1815:Plk5	UTSW	10	80,199,855 (GRCm39)	missense	probably benign	0.03
R1866:Plk5	UTSW	10	80,196,403 (GRCm39)	splice site	probably null
R1991:Plk5	UTSW	10	80,198,936 (GRCm39)	missense	possibly damaging	0.53
R4501:Plk5	UTSW	10	80,195,305 (GRCm39)	missense	probably benign	0.05
R4580:Plk5	UTSW	10	80,196,301 (GRCm39)	missense	possibly damaging	0.95
R4731:Plk5	UTSW	10	80,194,631 (GRCm39)	missense	probably damaging	1.00
R4801:Plk5	UTSW	10	80,195,138 (GRCm39)	missense	possibly damaging	0.87
R4802:Plk5	UTSW	10	80,195,138 (GRCm39)	missense	possibly damaging	0.87
R5346:Plk5	UTSW	10	80,198,942 (GRCm39)	missense	probably damaging	1.00
R5702:Plk5	UTSW	10	80,196,401 (GRCm39)	critical splice donor site	probably null
R6417:Plk5	UTSW	10	80,199,906 (GRCm39)	missense	probably benign	0.07
R6548:Plk5	UTSW	10	80,198,879 (GRCm39)	missense	probably damaging	1.00
R6695:Plk5	UTSW	10	80,196,035 (GRCm39)	missense	probably benign	0.22
R7989:Plk5	UTSW	10	80,199,899 (GRCm39)	missense	probably benign	0.00
R8376:Plk5	UTSW	10	80,196,179 (GRCm39)	missense	probably damaging	0.97
R8746:Plk5	UTSW	10	80,194,610 (GRCm39)	missense	probably benign	0.03
R9025:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9027:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9063:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9087:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9089:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9090:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9091:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9270:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9271:Plk5	UTSW	10	80,193,830 (GRCm39)	missense	probably damaging	0.99
R9438:Plk5	UTSW	10	80,193,867 (GRCm39)	missense	probably damaging	1.00
X0019:Plk5	UTSW	10	80,200,135 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATATGACCCTGTGTACCCACC -3'
(R):5'- TTACCTGCAGATGAAGAGGAGC -3'

Sequencing Primer
(F):5'- CCACCTGGGTCTACACACC -3'
(R):5'- AGGAGCACAGCATGAGCCC -3'

Posted On

2016-06-06