Incidental Mutation 'R0992:Srpk2'
| ID |
97761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srpk2
|
| Ensembl Gene |
ENSMUSG00000062604 |
| Gene Name |
serine/arginine-rich protein specific kinase 2 |
| Synonyms |
WBP6, mSRPK2 |
| MMRRC Submission |
039112-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0992 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
23708262-23889615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23750541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 54
(I54T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143453
(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: I152T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
AA Change: I152T
| 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: I54T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143453
Gene: ENSMUSG00000062604
AA Change: I54T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
3 |
129 |
7.2e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196929
AA Change: I54T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143216
Gene: ENSMUSG00000062604
AA Change: I54T
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,102,510 (GRCm39) |
T905A |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,728,086 (GRCm39) |
R100G |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,991,553 (GRCm39) |
R1400* |
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,327,765 (GRCm39) |
S948P |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,300,491 (GRCm39) |
V1029M |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Disc1 |
T |
C |
8: 125,814,781 (GRCm39) |
I215T |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dst |
A |
G |
1: 34,238,617 (GRCm39) |
N3773S |
probably damaging |
Het |
| Gdap1 |
A |
G |
1: 17,217,329 (GRCm39) |
Y96C |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,898,230 (GRCm39) |
R112G |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,795,238 (GRCm39) |
S13P |
probably benign |
Het |
| Noxred1 |
T |
C |
12: 87,271,000 (GRCm39) |
N207S |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,166,929 (GRCm39) |
Q400L |
probably benign |
Het |
| Sla2 |
T |
C |
2: 156,716,392 (GRCm39) |
E243G |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Trim15 |
C |
T |
17: 37,175,903 (GRCm39) |
V215M |
probably damaging |
Het |
| Uchl3 |
T |
C |
14: 101,905,969 (GRCm39) |
I144T |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCTATAAAGCTGGACCAGGAG -3'
(R):5'- ggagaacagcacatgcCAAGTAGAG -3'
Sequencing Primer
(F):5'- gctctgatgccctcttctg -3'
(R):5'- tcggggagctgaagcac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation