Mutagenetix > Incidental Mutation

Incidental Mutation 'R8746:Plk5'

663561

Institutional Source

Beutler Lab

Gene Symbol

Plk5

Ensembl Gene

ENSMUSG00000035486

Gene Name

polo like kinase 5

Synonyms

6330514A18Rik

MMRRC Submission

068590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80192293-80201323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80194610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 111 (V111D)

Ref Sequence

ENSEMBL: ENSMUSP00000044400 (fasta)

Gene Model

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

AlphaFold

Q4FZD7

Predicted Effect

probably benign
Transcript: ENSMUST00000039836
AA Change: V111D

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000044400
Gene: ENSMUSG00000035486
AA Change: V111D

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

SMART Domains

Protein: ENSMUSP00000100988
Gene: ENSMUSG00000035486

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,451,529 (GRCm39)	M871K	probably benign	Het
5530400C23Rik	A	C	6: 133,271,256 (GRCm39)	E100A	possibly damaging	Het
Aatf	A	T	11: 84,402,338 (GRCm39)	I116N	probably benign	Het
Abcb11	G	T	2: 69,087,754 (GRCm39)		probably benign	Het
Adarb2	G	T	13: 8,802,680 (GRCm39)	A652S	probably benign	Het
Adgb	C	T	10: 10,281,028 (GRCm39)		probably null	Het
Ankrd34a	C	T	3: 96,504,791 (GRCm39)		probably benign	Het
Ano2	A	G	6: 125,840,513 (GRCm39)	I395V	probably benign	Het
Cadm2	C	A	16: 66,581,696 (GRCm39)	R203L	probably damaging	Het
Ccr2	T	C	9: 123,906,448 (GRCm39)	F243L	probably benign	Het
Ccr4	A	G	9: 114,321,918 (GRCm39)	V49A	probably damaging	Het
Cemip2	G	A	19: 21,803,465 (GRCm39)	G833R	probably damaging	Het
Corin	T	C	5: 72,592,695 (GRCm39)	D234G	probably benign	Het
Drd5	G	T	5: 38,477,433 (GRCm39)	R142I	probably benign	Het
Dsg1b	A	G	18: 20,529,056 (GRCm39)	D264G	probably damaging	Het
Ezh2	T	C	6: 47,553,534 (GRCm39)	K61R	probably damaging	Het
Frmd4b	T	A	6: 97,269,370 (GRCm39)	T981S	probably benign	Het
Gcg	T	A	2: 62,305,325 (GRCm39)	K180N	probably damaging	Het
Gm10840	G	A	11: 106,051,742 (GRCm39)	E23K	unknown	Het
Gm2696	T	G	10: 77,651,037 (GRCm39)	C174W	unknown	Het
Grin2b	T	C	6: 135,899,985 (GRCm39)	I299V	probably benign	Het
Hepacam	T	A	9: 37,293,030 (GRCm39)	V207E	probably damaging	Het
Igf1r	T	A	7: 67,864,745 (GRCm39)	M1181K	probably damaging	Het
Lmo2	T	C	2: 103,806,384 (GRCm39)	S96P	possibly damaging	Het
Marf1	T	A	16: 13,935,168 (GRCm39)	E1533D	probably benign	Het
Megf9	A	G	4: 70,353,511 (GRCm39)	C432R	probably damaging	Het
Mpp2	A	G	11: 101,954,040 (GRCm39)	Y236H	probably damaging	Het
Neb	T	C	2: 52,172,613 (GRCm39)	I1565V	probably damaging	Het
Or2y1f	A	G	11: 49,183,993 (GRCm39)		probably benign	Het
Or56b2j	A	T	7: 104,353,067 (GRCm39)	I98F	probably damaging	Het
Or5ac21	T	A	16: 59,123,973 (GRCm39)	F152L	probably benign	Het
Or5b3	A	G	19: 13,388,092 (GRCm39)	D53G	probably benign	Het
Or5g24-ps1	T	A	2: 85,464,221 (GRCm39)	Y149*	probably null	Het
Or6f1	C	T	7: 85,970,437 (GRCm39)	C241Y	probably damaging	Het
Or9k2b	T	C	10: 130,016,086 (GRCm39)	Y221C	probably damaging	Het
Patj	T	A	4: 98,394,067 (GRCm39)		probably benign	Het
Pknox1	A	T	17: 31,809,624 (GRCm39)	Q76L	possibly damaging	Het
Plekhg1	C	A	10: 3,907,777 (GRCm39)	T953K		Het
Plekhn1	C	A	4: 156,316,682 (GRCm39)	R333L	probably damaging	Het
Polr1b	A	G	2: 128,954,597 (GRCm39)	I398M	possibly damaging	Het
Ranbp3	T	C	17: 57,009,826 (GRCm39)	V137A	probably benign	Het
Rc3h1	T	A	1: 160,757,744 (GRCm39)	F21I	probably damaging	Het
Rgs8	T	C	1: 153,547,537 (GRCm39)	S56P	probably damaging	Het
Rhpn1	G	A	15: 75,585,425 (GRCm39)	V593M	probably damaging	Het
Sdad1	A	G	5: 92,437,784 (GRCm39)	S589P	probably benign	Het
Skp1	A	G	11: 52,136,843 (GRCm39)	K163R	probably damaging	Het
Slf2	A	G	19: 44,962,063 (GRCm39)	Y1080C	probably damaging	Het
Tcf4	C	T	18: 69,654,572 (GRCm39)		probably benign	Het
Tmem144	C	T	3: 79,732,655 (GRCm39)	V208M	probably damaging	Het
Tomm34	A	T	2: 163,902,884 (GRCm39)	L142Q	probably benign	Het
Unc13b	T	A	4: 43,176,120 (GRCm39)	V2316D	unknown	Het
Yme1l1	T	A	2: 23,052,543 (GRCm39)	S66T	probably benign	Het
Zfc3h1	T	C	10: 115,243,885 (GRCm39)	S739P	probably damaging	Het
Zscan25	T	A	5: 145,224,157 (GRCm39)	V209E	possibly damaging	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
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
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'- AGCACTCCCTGTTGCTTGAG -3'
(R):5'- CCTCCATGTTCTTGTTAAGGAAG -3'

Sequencing Primer
(F):5'- AGGCAGGAGGTCTCTTCC -3'
(R):5'- CTTGTTAAGGAAGAAATTACCTGCAG -3'

Posted On

2021-03-08