Incidental Mutation 'IGL02860:Rps6ka2'
ID |
362123 |
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 # |
IGL02860
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
7437514-7570714 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7550255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 440
(E440G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024575]
|
AlphaFold |
Q9WUT3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024575
AA Change: E440G
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000024575 Gene: ENSMUSG00000023809 AA Change: E440G
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
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
T |
9: 90,073,915 (GRCm39) |
M832L |
probably benign |
Het |
Cars1 |
A |
T |
7: 143,140,158 (GRCm39) |
D99E |
probably damaging |
Het |
Ccdc112 |
A |
G |
18: 46,420,509 (GRCm39) |
F414L |
probably benign |
Het |
Chst15 |
C |
T |
7: 131,870,831 (GRCm39) |
V235I |
probably benign |
Het |
Dysf |
G |
T |
6: 84,167,880 (GRCm39) |
|
probably null |
Het |
Elavl2 |
T |
C |
4: 91,149,190 (GRCm39) |
D174G |
probably damaging |
Het |
Gapdhs |
T |
A |
7: 30,429,308 (GRCm39) |
|
probably null |
Het |
Gnb1l |
G |
A |
16: 18,371,285 (GRCm39) |
G259R |
probably damaging |
Het |
Ighv9-2 |
T |
G |
12: 114,072,857 (GRCm39) |
I39L |
possibly damaging |
Het |
Kntc1 |
T |
A |
5: 123,907,936 (GRCm39) |
N474K |
possibly damaging |
Het |
Lrrc8c |
T |
C |
5: 105,727,481 (GRCm39) |
|
probably benign |
Het |
Lyn |
C |
T |
4: 3,745,594 (GRCm39) |
A131V |
possibly damaging |
Het |
Mindy2 |
T |
C |
9: 70,563,826 (GRCm39) |
E168G |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,611,821 (GRCm39) |
|
probably benign |
Het |
Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
Nell1 |
A |
T |
7: 50,498,233 (GRCm39) |
I597F |
probably damaging |
Het |
Nudt12 |
T |
A |
17: 59,317,430 (GRCm39) |
R72S |
probably benign |
Het |
Pan2 |
C |
T |
10: 128,146,604 (GRCm39) |
R414* |
probably null |
Het |
Rb1 |
T |
C |
14: 73,443,452 (GRCm39) |
R768G |
probably damaging |
Het |
Serpinb3a |
C |
T |
1: 106,977,183 (GRCm39) |
|
probably benign |
Het |
Stx8 |
C |
A |
11: 67,875,391 (GRCm39) |
T72K |
probably damaging |
Het |
Tecrl |
A |
G |
5: 83,502,844 (GRCm39) |
F2L |
probably benign |
Het |
Tmem263 |
C |
T |
10: 84,950,416 (GRCm39) |
T69I |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,181,983 (GRCm39) |
N49D |
probably benign |
Het |
Ttn |
A |
G |
2: 76,547,359 (GRCm39) |
L32229P |
probably damaging |
Het |
Zfp358 |
T |
C |
8: 3,546,074 (GRCm39) |
F219L |
probably damaging |
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 |
IGL02532:Rps6ka2
|
APN |
17 |
7,523,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02741:Rps6ka2
|
APN |
17 |
7,563,415 (GRCm39) |
missense |
probably benign |
0.22 |
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 |
2015-12-18 |