Mutagenetix > Incidental Mutation

Incidental Mutation 'R0083:Plk5'

60644

Institutional Source

Beutler Lab

Gene Symbol

Plk5

Ensembl Gene

ENSMUSG00000035486

Gene Name

polo like kinase 5

Synonyms

6330514A18Rik

MMRRC Submission

038370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0083 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

80192293-80201323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80192496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 34 (G34S)

Ref Sequence

ENSEMBL: ENSMUSP00000100988 (fasta)

Gene Model

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

AlphaFold

Q4FZD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039836
AA Change: G34S

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044400
Gene: ENSMUSG00000035486
AA Change: G34S

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

possibly damaging
Transcript: ENSMUST00000105351
AA Change: G34S

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100988
Gene: ENSMUSG00000035486
AA Change: G34S

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: 97.8%
10x: 94.0%
20x: 83.1%

Validation Efficiency

88% (117/133)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,667,406 (GRCm39)	I266F	unknown	Het
Adam39	T	G	8: 41,278,115 (GRCm39)	F169V	probably damaging	Het
Adcy2	A	T	13: 68,800,054 (GRCm39)	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,726,523 (GRCm39)		probably benign	Het
Ankrd26	G	T	6: 118,500,215 (GRCm39)	H1085Q	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atg4c	C	T	4: 99,109,677 (GRCm39)	H215Y	possibly damaging	Het
Atp6v0d2	G	A	4: 19,880,001 (GRCm39)		probably benign	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
C1qtnf3	G	A	15: 10,975,718 (GRCm39)	V175I	possibly damaging	Het
Cacna1c	A	G	6: 118,602,484 (GRCm39)	M1293T	probably damaging	Het
Ccdc88a	T	A	11: 29,453,463 (GRCm39)	S337T	probably damaging	Het
Cntn4	A	G	6: 106,502,330 (GRCm39)	I362M	possibly damaging	Het
Col22a1	A	T	15: 71,762,346 (GRCm39)	D104E	possibly damaging	Het
Col4a4	T	C	1: 82,484,832 (GRCm39)		probably null	Het
Cul7	C	A	17: 46,966,482 (GRCm39)	R304S	probably benign	Het
Elfn2	A	T	15: 78,557,614 (GRCm39)	L311Q	probably damaging	Het
Esrrb	T	C	12: 86,561,226 (GRCm39)	L320P	probably damaging	Het
Fads2b	A	T	2: 85,324,476 (GRCm39)	F283L	possibly damaging	Het
Fbxw10	A	G	11: 62,767,887 (GRCm39)	T903A	probably benign	Het
Fkbp4	G	A	6: 128,409,370 (GRCm39)		probably benign	Het
Gatad2b	T	A	3: 90,265,250 (GRCm39)	Y576N	probably damaging	Het
Greb1	T	C	12: 16,746,452 (GRCm39)	M1273V	probably benign	Het
Helq	C	A	5: 100,916,234 (GRCm39)	E913*	probably null	Het
Inpp4b	C	A	8: 82,468,091 (GRCm39)	A18E	possibly damaging	Het
Ints13	A	G	6: 146,452,162 (GRCm39)	Y686H	probably benign	Het
Itgb7	C	T	15: 102,131,917 (GRCm39)	R222H	probably damaging	Het
Krt81	A	G	15: 101,361,346 (GRCm39)	I78T	probably damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mctp2	G	T	7: 71,878,264 (GRCm39)	F271L	possibly damaging	Het
Mrto4	C	T	4: 139,075,279 (GRCm39)	V175I	possibly damaging	Het
Myh14	A	G	7: 44,283,943 (GRCm39)	V654A	probably damaging	Het
Neu2	A	G	1: 87,524,984 (GRCm39)	Y323C	probably damaging	Het
Nt5dc1	A	C	10: 34,279,760 (GRCm39)	M94R	probably damaging	Het
Nup210l	A	G	3: 90,096,882 (GRCm39)	T1364A	probably damaging	Het
Obscn	T	C	11: 58,913,200 (GRCm39)	D6939G	probably damaging	Het
Or10q1b	A	T	19: 13,683,042 (GRCm39)	T284S	probably damaging	Het
Pias4	A	G	10: 81,000,000 (GRCm39)	S18P	probably damaging	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Ptprj	A	T	2: 90,300,121 (GRCm39)		probably null	Het
Rps6ka2	G	A	17: 7,563,442 (GRCm39)	D617N	probably benign	Het
Sap130	C	A	18: 31,799,382 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,844,694 (GRCm39)	P902S	probably damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc15a2	T	C	16: 36,602,645 (GRCm39)	Y72C	probably damaging	Het
Slc26a6	T	C	9: 108,736,312 (GRCm39)		probably null	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Sppl2c	G	A	11: 104,077,358 (GRCm39)	V53I	probably benign	Het
Sstr1	T	A	12: 58,260,528 (GRCm39)	C384S	possibly damaging	Het
Sulf1	A	G	1: 12,887,641 (GRCm39)	M272V	probably damaging	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,687,550 (GRCm39)		probably benign	Het
Topaz1	A	T	9: 122,604,674 (GRCm39)	I1093L	probably benign	Het
Ttll4	G	T	1: 74,718,928 (GRCm39)	V260L	probably benign	Het
Vmn2r26	A	T	6: 124,030,940 (GRCm39)		probably null	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het
Zfp939	A	T	7: 39,123,534 (GRCm39)		noncoding transcript	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
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
R5084:Plk5	UTSW	10	80,194,723 (GRCm39)	missense	possibly damaging	0.75
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'- AACAAGTCCCAAGAGGTGCAGGTC -3'
(R):5'- GCACTCTTCCACTAAGGGAGCAATC -3'

Sequencing Primer
(F):5'- cgccccCACTCTCCAATAAG -3'
(R):5'- AGCACCAAGTGCGGTTCTC -3'

Posted On

2013-07-24