Incidental Mutation 'P0008:Srpk2'
| ID |
7564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srpk2
|
| Ensembl Gene |
ENSMUSG00000062604 |
| Gene Name |
serine/arginine-rich protein specific kinase 2 |
| Synonyms |
WBP6, mSRPK2 |
| MMRRC Submission |
038264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P0008 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23708262-23889615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23718976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 613
(Y613C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088392]
[ENSMUST00000196929]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088392
AA Change: Y613C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
AA Change: Y613C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
46 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
79 |
228 |
1.3e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
79 |
228 |
1e-9 |
PFAM |
|
coiled coil region
|
263 |
314 |
N/A |
INTRINSIC |
|
coiled coil region
|
339 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
506 |
680 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196929
|
| SMART Domains |
Protein: ENSMUSP00000143216
Gene: ENSMUSG00000062604
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
131 |
2.6e-8 |
PFAM |
|
Pfam:Pkinase
|
2 |
130 |
2.3e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.3864 |
| Coding Region Coverage |
- 1x: 86.8%
- 3x: 83.1%
- 10x: 72.7%
- 20x: 59.5%
|
| Validation Efficiency |
70% (420/599) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(39) : Targeted(3) Gene trapped(36)
|
| Other mutations in this stock |
Total: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat3 |
T |
C |
10: 78,123,710 (GRCm39) |
N50S |
probably damaging |
Het |
| Cfap70 |
A |
T |
14: 20,466,600 (GRCm39) |
F550I |
probably damaging |
Het |
| Dmpk |
G |
A |
7: 18,821,987 (GRCm39) |
R315H |
possibly damaging |
Het |
| Dnah5 |
T |
A |
15: 28,302,533 (GRCm39) |
Y1597N |
probably damaging |
Het |
| Mocos |
A |
T |
18: 24,812,663 (GRCm39) |
Q519L |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,394,893 (GRCm39) |
D270V |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,803,421 (GRCm39) |
M712V |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,260,782 (GRCm39) |
V77A |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,744,178 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Srpk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00697:Srpk2
|
APN |
5 |
23,745,377 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02057:Srpk2
|
APN |
5 |
23,723,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02217:Srpk2
|
APN |
5 |
23,750,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Srpk2
|
APN |
5 |
23,729,616 (GRCm39) |
splice site |
probably null |
|
|
FR4737:Srpk2
|
UTSW |
5 |
23,750,194 (GRCm39) |
splice site |
probably null |
|
|
R0142:Srpk2
|
UTSW |
5 |
23,732,928 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0462:Srpk2
|
UTSW |
5 |
23,723,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0992:Srpk2
|
UTSW |
5 |
23,750,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1569:Srpk2
|
UTSW |
5 |
23,719,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Srpk2
|
UTSW |
5 |
23,730,748 (GRCm39) |
splice site |
probably null |
|
|
R1696:Srpk2
|
UTSW |
5 |
23,753,492 (GRCm39) |
nonsense |
probably null |
|
|
R1752:Srpk2
|
UTSW |
5 |
23,733,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Srpk2
|
UTSW |
5 |
23,729,148 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1989:Srpk2
|
UTSW |
5 |
23,723,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Srpk2
|
UTSW |
5 |
23,723,613 (GRCm39) |
splice site |
probably null |
|
|
R4096:Srpk2
|
UTSW |
5 |
23,745,500 (GRCm39) |
intron |
probably benign |
|
|
R4271:Srpk2
|
UTSW |
5 |
23,753,513 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4894:Srpk2
|
UTSW |
5 |
23,750,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5043:Srpk2
|
UTSW |
5 |
23,729,515 (GRCm39) |
missense |
probably benign |
|
|
R5044:Srpk2
|
UTSW |
5 |
23,729,390 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5309:Srpk2
|
UTSW |
5 |
23,730,716 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5478:Srpk2
|
UTSW |
5 |
23,729,181 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5568:Srpk2
|
UTSW |
5 |
23,730,697 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5665:Srpk2
|
UTSW |
5 |
23,723,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5678:Srpk2
|
UTSW |
5 |
23,729,604 (GRCm39) |
frame shift |
probably null |
|
|
R6364:Srpk2
|
UTSW |
5 |
23,745,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:Srpk2
|
UTSW |
5 |
23,712,626 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7597:Srpk2
|
UTSW |
5 |
23,753,517 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8251:Srpk2
|
UTSW |
5 |
23,729,266 (GRCm39) |
missense |
probably benign |
|
|
R8477:Srpk2
|
UTSW |
5 |
23,718,986 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9348:Srpk2
|
UTSW |
5 |
23,719,671 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9606:Srpk2
|
UTSW |
5 |
23,729,604 (GRCm39) |
missense |
probably benign |
|
|
R9745:Srpk2
|
UTSW |
5 |
23,880,874 (GRCm39) |
intron |
probably benign |
|
|
RF035:Srpk2
|
UTSW |
5 |
23,730,573 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF042:Srpk2
|
UTSW |
5 |
23,730,573 (GRCm39) |
utr 3 prime |
probably benign |
|
|
| Protein Function and Prediction |
Srpk2 is a non-snRNP factor involved in spliceosome-mediated pre-mRNA splicing (1;2). Non-snRNP factors mediate the interaction between pre-mRNA and snRNPs, an essential step in splice-site selection (2).
|
| Expression/Localization |
Northern blot analysis revealed four transcripts in mouse. The 4.2 kb, 3.3 kb, and 1.8 kb were predominant in the brain, testis, and lung, respectively (1). Immunocytochemical analysis revealed that the Srpk2 protein was localized in the cytoplasm; some expression was seen in both the nucleus and cytoplasm (1). In human tissues, only the 4.3 kb transcript was observed by Northern Blot analysis (2). SRPK2 is highly expressed in he human brain; moderate expression was observd in heart and skeletal muscle with low expression observed in lung, liver, and kidney (2).
|
| Background |
Srpk2tm1Nik/tm1Nik; MGI:4460670
involves: 129P2/OlaHsd * C57BL/6
Mice homozygous for a targeted allele exhibit no abnormal phenotypes (3). [NOTE]: this is a complex genotype; Srpk2 transgenic is coexpressed with Lrrc17tm1Nik/ tm1Nik.
|
| References |
1. Kuroyanagi, N., Onogi, H., Wakabayashi, T., and Hagiwara, M. (1998) Novel SR-Protein-Specific Kinase, SRPK2, Disassembles Nuclear Speckles. Biochem Biophys Res Commun. 242, 357-364.
2. Wang, H. Y., Lin, W., Dyck, J. A., Yeakley, J. M., Songyang, Z., Cantley, L. C., and Fu, X. D. (1998) SRPK2: A Differentially Expressed SR Protein-Specific Kinase Involved in Mediating the Interaction and Localization of Pre-mRNA Splicing Factors in Mammalian Cells. J Cell Biol. 140, 737-750.
3. Wong, J. C., Zhang, Y., Lieuw, K. H., Tran, M. T., Forgo, E., Weinfurtner, K., Alzamora, P., Kogan, S. C., Akagi, K., Wolff, L., Le Beau, M. M., Killeen, N., and Shannon, K. (2010) Use of Chromosome Engineering to Model a Segmental Deletion of Chromosome Band 7q22 found in Myeloid Malignancies. Blood. 115, 4524-4532. |
| Posted On |
2012-10-04 |
| Science Writer |
Anne Murray |
Incidental Mutation