Incidental Mutation 'IGL02532:Rps6ka2'
| ID |
297342 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rps6ka2
|
| Ensembl Gene |
ENSMUSG00000023809 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 2 |
| Synonyms |
Rsk3, Rps6ka-rs1, D17Wsu134e, 90kDa, pp90rsk, p90rsk |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
IGL02532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
7437514-7570714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7523365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 213
(V213A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024575]
[ENSMUST00000232527]
|
| AlphaFold |
Q9WUT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024575
AA Change: V247A
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: V247A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
|
S_TKc
|
59 |
318 |
6.25e-107 |
SMART |
|
S_TK_X
|
319 |
380 |
3.36e-20 |
SMART |
|
S_TKc
|
415 |
672 |
1.84e-104 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232136
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232527
AA Change: V213A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased response of heart to stress following transverse aortic constriction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
| Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
| Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
| Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
| Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
| Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
| Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
| Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
| Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
| Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
| Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
| Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
| Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
| Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
| Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
| Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
Het |
|
| Other mutations in Rps6ka2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01782:Rps6ka2
|
APN |
17 |
7,503,523 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02199:Rps6ka2
|
APN |
17 |
7,521,852 (GRCm39) |
splice site |
probably benign |
|
|
IGL02458:Rps6ka2
|
APN |
17 |
7,556,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02741:Rps6ka2
|
APN |
17 |
7,563,415 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02860:Rps6ka2
|
APN |
17 |
7,550,255 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02948:Rps6ka2
|
APN |
17 |
7,521,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03037:Rps6ka2
|
APN |
17 |
7,521,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03085:Rps6ka2
|
APN |
17 |
7,562,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03302:Rps6ka2
|
APN |
17 |
7,566,787 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03303:Rps6ka2
|
APN |
17 |
7,495,411 (GRCm39) |
nonsense |
probably null |
|
|
R0083:Rps6ka2
|
UTSW |
17 |
7,563,442 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0108:Rps6ka2
|
UTSW |
17 |
7,563,442 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0145:Rps6ka2
|
UTSW |
17 |
7,529,585 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0257:Rps6ka2
|
UTSW |
17 |
7,495,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Rps6ka2
|
UTSW |
17 |
7,539,009 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0563:Rps6ka2
|
UTSW |
17 |
7,521,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1065:Rps6ka2
|
UTSW |
17 |
7,549,157 (GRCm39) |
splice site |
probably benign |
|
|
R1465:Rps6ka2
|
UTSW |
17 |
7,560,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Rps6ka2
|
UTSW |
17 |
7,560,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Rps6ka2
|
UTSW |
17 |
7,560,305 (GRCm39) |
missense |
probably null |
1.00 |
|
R1708:Rps6ka2
|
UTSW |
17 |
7,544,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2418:Rps6ka2
|
UTSW |
17 |
7,566,738 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2697:Rps6ka2
|
UTSW |
17 |
7,567,721 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4427:Rps6ka2
|
UTSW |
17 |
7,566,804 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4753:Rps6ka2
|
UTSW |
17 |
7,566,707 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4951:Rps6ka2
|
UTSW |
17 |
7,560,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Rps6ka2
|
UTSW |
17 |
7,566,685 (GRCm39) |
missense |
probably benign |
|
|
R4954:Rps6ka2
|
UTSW |
17 |
7,539,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6298:Rps6ka2
|
UTSW |
17 |
7,437,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6800:Rps6ka2
|
UTSW |
17 |
7,519,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6905:Rps6ka2
|
UTSW |
17 |
7,495,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Rps6ka2
|
UTSW |
17 |
7,495,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7014:Rps6ka2
|
UTSW |
17 |
7,523,331 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7268:Rps6ka2
|
UTSW |
17 |
7,562,662 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7278:Rps6ka2
|
UTSW |
17 |
7,539,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Rps6ka2
|
UTSW |
17 |
7,539,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Rps6ka2
|
UTSW |
17 |
7,544,848 (GRCm39) |
splice site |
probably null |
|
|
R8124:Rps6ka2
|
UTSW |
17 |
7,549,228 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8353:Rps6ka2
|
UTSW |
17 |
7,514,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8453:Rps6ka2
|
UTSW |
17 |
7,514,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8558:Rps6ka2
|
UTSW |
17 |
7,523,316 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9047:Rps6ka2
|
UTSW |
17 |
7,567,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9142:Rps6ka2
|
UTSW |
17 |
7,437,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Rps6ka2
|
UTSW |
17 |
7,558,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation