Incidental Mutation 'IGL02217:Srpk2'
| ID |
284922 |
| 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 # |
IGL02217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
23708262-23889615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23750568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 45
(V45G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088392]
[ENSMUST00000196388]
[ENSMUST00000196929]
[ENSMUST00000197985]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088392
AA Change: V143G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
AA Change: V143G
| 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 damaging
Transcript: ENSMUST00000196388
AA Change: V45G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143453
Gene: ENSMUSG00000062604
AA Change: V45G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
3 |
129 |
7.2e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196929
AA Change: V45G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143216
Gene: ENSMUSG00000062604
AA Change: V45G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
131 |
2.6e-8 |
PFAM |
|
Pfam:Pkinase
|
2 |
130 |
2.3e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197985
|
| SMART Domains |
Protein: ENSMUSP00000142554
Gene: ENSMUSG00000062604
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
46 |
N/A |
INTRINSIC |
|
PDB:2X7G|A
|
48 |
129 |
1e-54 |
PDB |
|
SCOP:d1howa_
|
66 |
128 |
1e-13 |
SMART |
|
Blast:S_TKc
|
79 |
128 |
2e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200173
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,603,955 (GRCm39) |
|
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,220,868 (GRCm39) |
Q647* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,598,873 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,535,881 (GRCm39) |
T1389I |
possibly damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,177,059 (GRCm39) |
|
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,667,757 (GRCm39) |
T405S |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,018,495 (GRCm39) |
V1168M |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,889,132 (GRCm39) |
S1494P |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,213,541 (GRCm39) |
T758S |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,261,484 (GRCm39) |
M247K |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,305,953 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
T |
A |
4: 86,732,036 (GRCm39) |
C917S |
probably benign |
Het |
| Dhrs11 |
A |
T |
11: 84,713,221 (GRCm39) |
Y166* |
probably null |
Het |
| Dtl |
A |
G |
1: 191,300,426 (GRCm39) |
V146A |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,606,893 (GRCm39) |
E20G |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,960 (GRCm39) |
K437R |
probably benign |
Het |
| Fkbp6 |
A |
T |
5: 135,366,484 (GRCm39) |
V284E |
probably benign |
Het |
| Foxq1 |
A |
T |
13: 31,743,152 (GRCm39) |
S85C |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,113,832 (GRCm39) |
S83R |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,825,673 (GRCm39) |
D630G |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,466,471 (GRCm39) |
|
probably null |
Het |
| Hemgn |
G |
T |
4: 46,396,420 (GRCm39) |
T272K |
probably damaging |
Het |
| Ifi213 |
T |
G |
1: 173,422,598 (GRCm39) |
E89A |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,066,677 (GRCm39) |
E954G |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,348,212 (GRCm39) |
D126G |
probably damaging |
Het |
| Lbh |
A |
T |
17: 73,228,247 (GRCm39) |
I31F |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,503,697 (GRCm39) |
|
probably benign |
Het |
| Mdfic2 |
T |
A |
6: 98,225,033 (GRCm39) |
E83D |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,889 (GRCm39) |
E490G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,266 (GRCm39) |
S686P |
probably damaging |
Het |
| Nme4 |
A |
G |
17: 26,312,834 (GRCm39) |
M108T |
probably damaging |
Het |
| Nod1 |
A |
C |
6: 54,920,404 (GRCm39) |
V638G |
possibly damaging |
Het |
| Nrip2 |
A |
G |
6: 128,383,502 (GRCm39) |
N70S |
probably damaging |
Het |
| Or2bd2 |
T |
A |
7: 6,443,244 (GRCm39) |
I115N |
probably damaging |
Het |
| Or5as1 |
A |
G |
2: 86,980,231 (GRCm39) |
M258T |
probably benign |
Het |
| Pitrm1 |
G |
A |
13: 6,617,377 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,378,912 (GRCm39) |
K115E |
probably damaging |
Het |
| Ptov1 |
C |
T |
7: 44,516,900 (GRCm39) |
G70R |
probably damaging |
Het |
| Qtrt1 |
T |
G |
9: 21,328,685 (GRCm39) |
|
probably null |
Het |
| Rbbp8nl |
A |
G |
2: 179,919,981 (GRCm39) |
|
probably benign |
Het |
| Rplp1rt |
A |
T |
19: 12,824,227 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn3 |
G |
A |
19: 7,412,449 (GRCm39) |
T794I |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,390,183 (GRCm39) |
L82P |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,838,784 (GRCm39) |
L27F |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,627,303 (GRCm39) |
F57S |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,851,196 (GRCm39) |
T1255P |
probably damaging |
Het |
| Vmn2r16 |
A |
C |
5: 109,487,676 (GRCm39) |
H183P |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,738,601 (GRCm39) |
I286T |
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 |
|
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 |
2015-04-16 |
Incidental Mutation