Incidental Mutation 'IGL02057:Srpk2'
| ID |
185262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srpk2
|
| Ensembl Gene |
ENSMUSG00000062604 |
| Gene Name |
serine/arginine-rich protein specific kinase 2 |
| Synonyms |
WBP6, mSRPK2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
23708262-23889615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23723705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 502
(A502E)
|
| 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: A502E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
AA Change: A502E
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
| Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
| AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
| Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
| Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
| Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
| Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
| Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
| Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
| Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
| Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
| Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
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 |
|
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 |
|
|
P0008:Srpk2
|
UTSW |
5 |
23,718,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation