Incidental Mutation 'R6596:Plk2'
| ID |
526005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plk2
|
| Ensembl Gene |
ENSMUSG00000021701 |
| Gene Name |
polo like kinase 2 |
| Synonyms |
Snk |
| MMRRC Submission |
044720-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
110531580-110537378 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110534296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 292
(A292V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022212]
|
| AlphaFold |
P53351 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022212
AA Change: A292V
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022212
Gene: ENSMUSG00000021701
AA Change: A292V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
| Crnn |
G |
A |
3: 93,054,182 (GRCm39) |
E22K |
probably damaging |
Het |
| Dcstamp |
A |
C |
15: 39,617,605 (GRCm39) |
T5P |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
| Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
| Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
| Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
| Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
| Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
| Obox1 |
C |
T |
7: 15,289,301 (GRCm39) |
S72L |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,622 (GRCm39) |
T243S |
possibly damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
| Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
| Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
| Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
| Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
| Tbc1d16 |
A |
C |
11: 119,048,601 (GRCm39) |
W351G |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,259,508 (GRCm39) |
S460G |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Tpte |
T |
C |
8: 22,823,285 (GRCm39) |
L304P |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,382 (GRCm39) |
F325I |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
probably null |
Het |
|
| Other mutations in Plk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Plk2
|
APN |
13 |
110,535,298 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL00586:Plk2
|
APN |
13 |
110,532,912 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL00798:Plk2
|
APN |
13 |
110,534,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01450:Plk2
|
APN |
13 |
110,532,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01722:Plk2
|
APN |
13 |
110,535,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01937:Plk2
|
APN |
13 |
110,535,588 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01945:Plk2
|
APN |
13 |
110,535,588 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01993:Plk2
|
APN |
13 |
110,535,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02231:Plk2
|
APN |
13 |
110,536,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03059:Plk2
|
APN |
13 |
110,535,668 (GRCm39) |
missense |
probably benign |
0.42 |
|
Mite
|
UTSW |
13 |
110,532,570 (GRCm39) |
nonsense |
probably null |
|
|
R0189:Plk2
|
UTSW |
13 |
110,535,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Plk2
|
UTSW |
13 |
110,534,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1108:Plk2
|
UTSW |
13 |
110,536,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1422:Plk2
|
UTSW |
13 |
110,536,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1513:Plk2
|
UTSW |
13 |
110,536,622 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2987:Plk2
|
UTSW |
13 |
110,534,243 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4050:Plk2
|
UTSW |
13 |
110,536,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Plk2
|
UTSW |
13 |
110,532,871 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4278:Plk2
|
UTSW |
13 |
110,532,637 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4777:Plk2
|
UTSW |
13 |
110,534,307 (GRCm39) |
missense |
probably benign |
|
|
R5121:Plk2
|
UTSW |
13 |
110,535,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5677:Plk2
|
UTSW |
13 |
110,535,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6240:Plk2
|
UTSW |
13 |
110,536,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Plk2
|
UTSW |
13 |
110,536,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6436:Plk2
|
UTSW |
13 |
110,532,570 (GRCm39) |
nonsense |
probably null |
|
|
R6776:Plk2
|
UTSW |
13 |
110,536,325 (GRCm39) |
missense |
probably benign |
|
|
R6938:Plk2
|
UTSW |
13 |
110,533,214 (GRCm39) |
nonsense |
probably null |
|
|
R7556:Plk2
|
UTSW |
13 |
110,533,122 (GRCm39) |
splice site |
probably null |
|
|
R8927:Plk2
|
UTSW |
13 |
110,535,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Plk2
|
UTSW |
13 |
110,535,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Plk2
|
UTSW |
13 |
110,533,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9063:Plk2
|
UTSW |
13 |
110,532,920 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9512:Plk2
|
UTSW |
13 |
110,536,673 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9546:Plk2
|
UTSW |
13 |
110,535,301 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Plk2
|
UTSW |
13 |
110,531,793 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAATCAGACATCTGGGCC -3'
(R):5'- TGTGGAACCAGAAGAGACCATC -3'
Sequencing Primer
(F):5'- AATCAGACATCTGGGCCTTAGGC -3'
(R):5'- TCTCCAGCAACCAGGACGATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation