Incidental Mutation 'R5678:Srpk2'
ID |
442878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srpk2
|
Ensembl Gene |
ENSMUSG00000062604 |
Gene Name |
serine/arginine-rich protein specific kinase 2 |
Synonyms |
WBP6, mSRPK2 |
MMRRC Submission |
043317-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5678 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
23708262-23889615 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TCA to T
at 23729604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088392]
[ENSMUST00000196388]
[ENSMUST00000196929]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000088392
|
SMART Domains |
Protein: ENSMUSP00000085734 Gene: ENSMUSG00000062604
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: ENSMUST00000196388
|
SMART Domains |
Protein: ENSMUSP00000143453 Gene: ENSMUSG00000062604
Domain | Start | End | E-Value | Type |
S_TKc
|
3 |
129 |
7.2e-6 |
SMART |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200173
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (55/55) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
C |
11: 23,466,529 (GRCm39) |
T168A |
probably damaging |
Het |
3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
A530016L24Rik |
T |
G |
12: 112,463,306 (GRCm39) |
C43W |
probably damaging |
Het |
Aatk |
T |
C |
11: 119,900,980 (GRCm39) |
T1082A |
probably benign |
Het |
Acsl1 |
T |
A |
8: 46,945,887 (GRCm39) |
F7I |
probably benign |
Het |
Adgb |
T |
G |
10: 10,307,070 (GRCm39) |
S299R |
possibly damaging |
Het |
Apob |
T |
C |
12: 8,041,494 (GRCm39) |
F738L |
possibly damaging |
Het |
Art3 |
T |
C |
5: 92,540,409 (GRCm39) |
Y51H |
probably damaging |
Het |
Atr |
C |
T |
9: 95,833,540 (GRCm39) |
Q2597* |
probably null |
Het |
Atrn |
T |
C |
2: 130,811,936 (GRCm39) |
V627A |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,947,317 (GRCm39) |
K1111E |
probably damaging |
Het |
Ccdc40 |
T |
C |
11: 119,122,398 (GRCm39) |
S67P |
possibly damaging |
Het |
Cd164 |
T |
C |
10: 41,395,948 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
C |
9: 15,234,154 (GRCm39) |
D2214G |
probably damaging |
Het |
Clcn1 |
A |
G |
6: 42,284,199 (GRCm39) |
Y589C |
probably damaging |
Het |
Col1a2 |
C |
T |
6: 4,536,239 (GRCm39) |
A998V |
unknown |
Het |
Csrnp2 |
T |
C |
15: 100,379,685 (GRCm39) |
*535W |
probably null |
Het |
Dhrs7 |
C |
T |
12: 72,704,106 (GRCm39) |
G130D |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,677,074 (GRCm39) |
T477A |
probably benign |
Het |
Dscam |
A |
G |
16: 96,592,100 (GRCm39) |
F725S |
probably benign |
Het |
Dstyk |
T |
C |
1: 132,381,029 (GRCm39) |
V508A |
probably benign |
Het |
Eif4g3 |
A |
G |
4: 137,879,053 (GRCm39) |
E595G |
probably damaging |
Het |
Epha6 |
A |
T |
16: 59,639,342 (GRCm39) |
V844E |
probably damaging |
Het |
Esrp2 |
G |
A |
8: 106,858,750 (GRCm39) |
A629V |
probably damaging |
Het |
Fndc3b |
A |
G |
3: 27,483,172 (GRCm39) |
S1009P |
probably benign |
Het |
Gm8257 |
A |
T |
14: 44,894,706 (GRCm39) |
I28N |
probably damaging |
Het |
Ighv5-9-1 |
T |
C |
12: 113,700,207 (GRCm39) |
E4G |
possibly damaging |
Het |
Ints3 |
A |
G |
3: 90,310,855 (GRCm39) |
V455A |
probably damaging |
Het |
Lamtor2 |
A |
G |
3: 88,458,101 (GRCm39) |
|
probably benign |
Het |
Npy1r |
T |
C |
8: 67,156,855 (GRCm39) |
C92R |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,098,266 (GRCm39) |
V1406A |
probably damaging |
Het |
Or10g7 |
T |
C |
9: 39,905,199 (GRCm39) |
V31A |
probably benign |
Het |
Or4a75 |
A |
G |
2: 89,447,625 (GRCm39) |
F304L |
probably benign |
Het |
Or4c108 |
A |
T |
2: 88,803,317 (GRCm39) |
L306* |
probably null |
Het |
Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
Qdpr |
T |
C |
5: 45,604,979 (GRCm39) |
E43G |
possibly damaging |
Het |
Rps6ka5 |
T |
C |
12: 100,691,135 (GRCm39) |
E2G |
unknown |
Het |
Setd2 |
A |
G |
9: 110,431,254 (GRCm39) |
T5A |
probably damaging |
Het |
Slc66a2 |
T |
C |
18: 80,300,249 (GRCm39) |
I40T |
probably damaging |
Het |
Sympk |
T |
C |
7: 18,783,397 (GRCm39) |
|
probably null |
Het |
Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
Tchh |
A |
T |
3: 93,352,933 (GRCm39) |
Q791L |
unknown |
Het |
Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,719,319 (GRCm39) |
D1989G |
unknown |
Het |
Utp20 |
A |
T |
10: 88,644,979 (GRCm39) |
H582Q |
probably benign |
Het |
Utrn |
A |
G |
10: 12,317,762 (GRCm39) |
I554T |
probably damaging |
Het |
Zfp1005 |
A |
T |
2: 150,110,425 (GRCm39) |
R372* |
probably null |
Het |
Zfp119a |
T |
C |
17: 56,175,336 (GRCm39) |
E53G |
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 |
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 |
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'- GGATTTGCACAGTCATCTTCATCG -3'
(R):5'- AGGTCCGTTAGAAGTGGCTC -3'
Sequencing Primer
(F):5'- GCACAGTCATCTTCATCGTCCTC -3'
(R):5'- AGACCGCCAGATCTCTGAGTTTG -3'
|
Posted On |
2016-11-09 |