Incidental Mutation 'R2289:Vrk3'
| ID |
244210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vrk3
|
| Ensembl Gene |
ENSMUSG00000002205 |
| Gene Name |
vaccinia related kinase 3 |
| Synonyms |
|
| MMRRC Submission |
040288-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44398049-44426939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44424866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 427
(T427M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002275]
[ENSMUST00000147952]
|
| AlphaFold |
Q8K3G5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002275
AA Change: T427M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002275
Gene: ENSMUSG00000002205
AA Change: T427M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
212 |
432 |
3.2e-8 |
PFAM |
|
Pfam:Pkinase
|
218 |
432 |
4.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147952
|
| SMART Domains |
Protein: ENSMUSP00000130331
Gene: ENSMUSG00000002205
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-ribbon_3
|
1 |
26 |
1.1e-11 |
PFAM |
|
Pfam:zinc_ribbon_2
|
4 |
26 |
2.9e-10 |
PFAM |
|
PDB:2JII|B
|
117 |
162 |
1e-8 |
PDB |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired social behavior, decreased fear and anxiety relate behavior, impaired spatial memory, and abnormal hippocampal dendritic spine and synapse morphologies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,520,941 (GRCm39) |
E220V |
possibly damaging |
Het |
| Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,595,172 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
| Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
| Klrh1 |
T |
C |
6: 129,745,140 (GRCm39) |
N152S |
probably null |
Het |
| Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
| Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
| Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
| Nle1 |
T |
A |
11: 82,793,879 (GRCm39) |
I386F |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,119,630 (GRCm39) |
I8V |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
| Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,059,046 (GRCm39) |
C251G |
probably damaging |
Het |
| Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
| Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
| Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
| Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,423,477 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
| Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
| Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
| Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
| Zfp870 |
A |
T |
17: 33,102,334 (GRCm39) |
S333T |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vrk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Vrk3
|
APN |
7 |
44,419,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01540:Vrk3
|
APN |
7 |
44,416,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02682:Vrk3
|
APN |
7 |
44,403,244 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0462:Vrk3
|
UTSW |
7 |
44,413,624 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0831:Vrk3
|
UTSW |
7 |
44,414,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Vrk3
|
UTSW |
7 |
44,417,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2212:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2915:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3027:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3028:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3416:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3417:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3613:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3877:Vrk3
|
UTSW |
7 |
44,412,460 (GRCm39) |
splice site |
probably null |
|
|
R4357:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4359:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4379:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4381:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4439:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4441:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4773:Vrk3
|
UTSW |
7 |
44,424,900 (GRCm39) |
missense |
probably benign |
|
|
R5222:Vrk3
|
UTSW |
7 |
44,409,220 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5808:Vrk3
|
UTSW |
7 |
44,409,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6180:Vrk3
|
UTSW |
7 |
44,419,035 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7007:Vrk3
|
UTSW |
7 |
44,407,187 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7058:Vrk3
|
UTSW |
7 |
44,417,890 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7425:Vrk3
|
UTSW |
7 |
44,420,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7995:Vrk3
|
UTSW |
7 |
44,413,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Vrk3
|
UTSW |
7 |
44,407,270 (GRCm39) |
nonsense |
probably null |
|
|
R9123:Vrk3
|
UTSW |
7 |
44,407,254 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9330:Vrk3
|
UTSW |
7 |
44,424,910 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9681:Vrk3
|
UTSW |
7 |
44,403,356 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGATGCTTCCCACACCGAC -3'
(R):5'- GATCACCCAGCTGAATTCCAG -3'
Sequencing Primer
(F):5'- CAGCAGATACAAGAACTCCCAGTG -3'
(R):5'- CAGCTCTTGAATTGACTTCAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation