Incidental Mutation 'R9348:Srpk2'
| ID |
707909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srpk2
|
| Ensembl Gene |
ENSMUSG00000062604 |
| Gene Name |
serine/arginine-rich protein specific kinase 2 |
| Synonyms |
WBP6, mSRPK2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
23708262-23889615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23719671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 578
(F578I)
|
| 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: F578I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
AA Change: F578I
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
C |
T |
8: 41,208,953 (GRCm39) |
P740S |
probably benign |
Het |
| Arfgef1 |
G |
T |
1: 10,283,419 (GRCm39) |
H163Q |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,187,699 (GRCm39) |
D222E |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,490,155 (GRCm39) |
T165A |
|
Het |
| BC034090 |
A |
G |
1: 155,099,049 (GRCm39) |
S579P |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,160,766 (GRCm39) |
S546T |
probably benign |
Het |
| C4b |
C |
T |
17: 34,952,159 (GRCm39) |
V1229I |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,262 (GRCm39) |
D895G |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,820,838 (GRCm39) |
S296P |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,076 (GRCm39) |
S51P |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,717,708 (GRCm39) |
H545R |
unknown |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
T |
A |
8: 70,951,316 (GRCm39) |
I65K |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,421,256 (GRCm39) |
M1V |
probably null |
Het |
| Cyb5d1 |
T |
A |
11: 69,285,830 (GRCm39) |
I69L |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,337 (GRCm39) |
D213G |
probably benign |
Het |
| Dennd5a |
C |
G |
7: 109,498,930 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
T |
A |
7: 109,498,942 (GRCm39) |
M998L |
probably benign |
Het |
| E2f1 |
T |
A |
2: 154,402,755 (GRCm39) |
E382D |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,102,772 (GRCm39) |
T395S |
probably benign |
Het |
| Gm20939 |
A |
G |
17: 95,182,977 (GRCm39) |
E71G |
probably damaging |
Het |
| Hs1bp3 |
T |
A |
12: 8,386,273 (GRCm39) |
V225E |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,943,427 (GRCm39) |
M1T |
probably null |
Het |
| Ifi205 |
T |
C |
1: 173,844,997 (GRCm39) |
I262V |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,380 (GRCm39) |
Y147C |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,538,003 (GRCm39) |
G120E |
probably damaging |
Het |
| Kif3c |
A |
G |
12: 3,417,505 (GRCm39) |
T509A |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,875,490 (GRCm39) |
N351K |
probably benign |
Het |
| Ndufaf3 |
C |
A |
9: 108,443,357 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
C |
T |
7: 19,757,336 (GRCm39) |
T191I |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,921,789 (GRCm39) |
L233P |
probably damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,289 (GRCm39) |
Y251F |
probably damaging |
Het |
| Or2g1 |
T |
C |
17: 38,106,992 (GRCm39) |
I219T |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2w1 |
T |
A |
13: 21,317,131 (GRCm39) |
F62Y |
possibly damaging |
Het |
| Preb |
A |
G |
5: 31,112,995 (GRCm39) |
F416L |
probably benign |
Het |
| Prickle2 |
C |
T |
6: 92,397,243 (GRCm39) |
V217I |
probably benign |
Het |
| Prss45 |
T |
A |
9: 110,668,278 (GRCm39) |
I157N |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,429,232 (GRCm39) |
T338A |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,745,206 (GRCm39) |
F517S |
probably damaging |
Het |
| Stx2 |
A |
T |
5: 129,076,601 (GRCm39) |
D27E |
probably benign |
Het |
| Tgfbrap1 |
A |
G |
1: 43,093,695 (GRCm39) |
I599T |
probably benign |
Het |
| Trim25 |
G |
T |
11: 88,900,167 (GRCm39) |
E305* |
probably null |
Het |
| Ttll7 |
T |
A |
3: 146,673,768 (GRCm39) |
I821N |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,954,186 (GRCm39) |
D23V |
|
Het |
| Zfp141 |
C |
A |
7: 42,124,814 (GRCm39) |
E553* |
probably null |
Het |
| Zfyve26 |
T |
C |
12: 79,315,231 (GRCm39) |
D1415G |
possibly damaging |
Het |
| Zpbp2 |
C |
T |
11: 98,442,141 (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 |
|
|
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 |
|
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'- TGAGGGTGCTTCAAACTCAAAG -3'
(R):5'- AGAGCCATAGTTCCCCTCTC -3'
Sequencing Primer
(F):5'- CTCAAAGGAAAAGCATCTGAATTTGG -3'
(R):5'- TAGAAATACCCCTGCAGCTTCTATGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation