Incidental Mutation 'R2859:Vrk2'
| ID |
252659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vrk2
|
| Ensembl Gene |
ENSMUSG00000064090 |
| Gene Name |
vaccinia related kinase 2 |
| Synonyms |
2810003O05Rik |
| MMRRC Submission |
040449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R2859 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
26421398-26544006 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26433324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 286
(S286I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078362]
[ENSMUST00000109504]
|
| AlphaFold |
Q8BN21 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078362
AA Change: S286I
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
AA Change: S286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
29 |
298 |
4.4e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
29 |
313 |
2e-11 |
PFAM |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109504
AA Change: S286I
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
AA Change: S286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
29 |
302 |
2.8e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
29 |
313 |
1.3e-11 |
PFAM |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (40/40) |
| 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. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,500,288 (GRCm39) |
Y1301C |
possibly damaging |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,174,112 (GRCm39) |
S34P |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
| Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
| Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
| Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
| Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
| Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
| Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
| Itk |
T |
G |
11: 46,235,662 (GRCm39) |
|
probably benign |
Het |
| Mastl |
C |
A |
2: 23,029,979 (GRCm39) |
C249F |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,343,142 (GRCm39) |
S182P |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,808 (GRCm39) |
I231T |
probably damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,742,165 (GRCm39) |
T178A |
possibly damaging |
Het |
| Patl1 |
T |
C |
19: 11,901,195 (GRCm39) |
F282L |
probably damaging |
Het |
| Phospho2 |
T |
C |
2: 69,626,195 (GRCm39) |
V117A |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,008,906 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
G |
4: 143,936,192 (GRCm39) |
S23P |
probably benign |
Het |
| Rbm17 |
A |
G |
2: 11,595,515 (GRCm39) |
F230S |
possibly damaging |
Het |
| Robo3 |
C |
A |
9: 37,339,400 (GRCm39) |
G196* |
probably null |
Het |
| Samhd1 |
A |
G |
2: 156,948,149 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Thbs4 |
A |
G |
13: 92,927,216 (GRCm39) |
F91S |
probably benign |
Het |
| Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,942,495 (GRCm39) |
L255P |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,268,455 (GRCm39) |
I5F |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,309 (GRCm39) |
L263P |
probably damaging |
Het |
|
| Other mutations in Vrk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01865:Vrk2
|
APN |
11 |
26,485,560 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02011:Vrk2
|
APN |
11 |
26,421,717 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02185:Vrk2
|
APN |
11 |
26,485,638 (GRCm39) |
nonsense |
probably null |
|
|
IGL02257:Vrk2
|
APN |
11 |
26,484,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:Vrk2
|
APN |
11 |
26,426,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
macromacro
|
UTSW |
11 |
26,499,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Vrk2
|
UTSW |
11 |
26,484,313 (GRCm39) |
splice site |
probably benign |
|
|
R0184:Vrk2
|
UTSW |
11 |
26,500,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0670:Vrk2
|
UTSW |
11 |
26,436,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0751:Vrk2
|
UTSW |
11 |
26,433,331 (GRCm39) |
splice site |
probably benign |
|
|
R0766:Vrk2
|
UTSW |
11 |
26,485,522 (GRCm39) |
splice site |
probably benign |
|
|
R1103:Vrk2
|
UTSW |
11 |
26,499,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Vrk2
|
UTSW |
11 |
26,433,331 (GRCm39) |
splice site |
probably benign |
|
|
R1312:Vrk2
|
UTSW |
11 |
26,485,522 (GRCm39) |
splice site |
probably benign |
|
|
R2041:Vrk2
|
UTSW |
11 |
26,497,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2857:Vrk2
|
UTSW |
11 |
26,433,324 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3615:Vrk2
|
UTSW |
11 |
26,439,866 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3616:Vrk2
|
UTSW |
11 |
26,439,866 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4163:Vrk2
|
UTSW |
11 |
26,497,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4651:Vrk2
|
UTSW |
11 |
26,439,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4652:Vrk2
|
UTSW |
11 |
26,439,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4662:Vrk2
|
UTSW |
11 |
26,421,611 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5262:Vrk2
|
UTSW |
11 |
26,541,697 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5458:Vrk2
|
UTSW |
11 |
26,448,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5529:Vrk2
|
UTSW |
11 |
26,449,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Vrk2
|
UTSW |
11 |
26,484,314 (GRCm39) |
splice site |
probably benign |
|
|
R5892:Vrk2
|
UTSW |
11 |
26,484,372 (GRCm39) |
intron |
probably benign |
|
|
R6054:Vrk2
|
UTSW |
11 |
26,436,975 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6923:Vrk2
|
UTSW |
11 |
26,439,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Vrk2
|
UTSW |
11 |
26,485,597 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7841:Vrk2
|
UTSW |
11 |
26,421,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Vrk2
|
UTSW |
11 |
26,485,575 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9074:Vrk2
|
UTSW |
11 |
26,543,917 (GRCm39) |
intron |
probably benign |
|
|
R9583:Vrk2
|
UTSW |
11 |
26,433,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGTGTGATTGGCAAGAAC -3'
(R):5'- CCCACTGTCAGTATATCATGCCAG -3'
Sequencing Primer
(F):5'- TTGGCAAGAACACAGGGATTC -3'
(R):5'- GGTTGTGTATGATTTAAAGGAAA -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation