Incidental Mutation 'R4954:Rps6ka2'
ID |
381503 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rps6ka2
|
Ensembl Gene |
ENSMUSG00000023809 |
Gene Name |
ribosomal protein S6 kinase, polypeptide 2 |
Synonyms |
Rsk3, Rps6ka-rs1, D17Wsu134e, 90kDa, pp90rsk, p90rsk |
MMRRC Submission |
042551-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R4954 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
7437514-7570714 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7539003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 307
(D307G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024575]
|
AlphaFold |
Q9WUT3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024575
AA Change: D307G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000024575 Gene: ENSMUSG00000023809 AA Change: D307G
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
|
Meta Mutation Damage Score |
0.0746 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (66/66) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
Alk |
C |
T |
17: 72,209,687 (GRCm39) |
W919* |
probably null |
Het |
Aoc3 |
G |
A |
11: 101,222,925 (GRCm39) |
G387D |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 39,376,694 (GRCm39) |
C441S |
probably benign |
Het |
Arhgap28 |
C |
A |
17: 68,176,008 (GRCm39) |
E100* |
probably null |
Het |
Ate1 |
C |
T |
7: 130,110,748 (GRCm39) |
G186D |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,919,026 (GRCm39) |
L1948H |
probably damaging |
Het |
Bmp2k |
C |
T |
5: 97,234,623 (GRCm39) |
|
probably benign |
Het |
Ccin |
A |
T |
4: 43,985,077 (GRCm39) |
I495F |
probably benign |
Het |
Cir1 |
T |
A |
2: 73,140,848 (GRCm39) |
E40D |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,307,765 (GRCm39) |
|
probably null |
Het |
Dennd1b |
A |
G |
1: 138,981,124 (GRCm39) |
T113A |
probably damaging |
Het |
Dnah2 |
G |
A |
11: 69,430,322 (GRCm39) |
P79S |
possibly damaging |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,219,645 (GRCm39) |
D99G |
probably damaging |
Het |
Enpep |
A |
T |
3: 129,077,829 (GRCm39) |
I596N |
probably damaging |
Het |
Eps15 |
G |
A |
4: 109,227,875 (GRCm39) |
|
probably null |
Het |
Ext1 |
T |
C |
15: 53,207,888 (GRCm39) |
D291G |
probably damaging |
Het |
Gm12883 |
T |
C |
4: 121,252,198 (GRCm39) |
|
noncoding transcript |
Het |
Gm9921 |
A |
G |
12: 45,484,383 (GRCm39) |
|
noncoding transcript |
Het |
H2-T22 |
C |
A |
17: 36,352,851 (GRCm39) |
W85C |
probably damaging |
Het |
Heatr1 |
G |
A |
13: 12,422,397 (GRCm39) |
|
probably null |
Het |
Hspa4l |
T |
A |
3: 40,739,832 (GRCm39) |
|
probably null |
Het |
Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
Kpna1 |
T |
C |
16: 35,853,696 (GRCm39) |
V442A |
probably damaging |
Het |
Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
Musk |
C |
T |
4: 58,344,222 (GRCm39) |
T285I |
probably damaging |
Het |
Myorg |
G |
A |
4: 41,498,241 (GRCm39) |
A463V |
possibly damaging |
Het |
Nbea |
T |
G |
3: 55,943,379 (GRCm39) |
Q632P |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,907,706 (GRCm39) |
V1105A |
probably benign |
Het |
Neb |
T |
C |
2: 52,067,530 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
A |
T |
7: 23,061,318 (GRCm39) |
K970* |
probably null |
Het |
Oog2 |
A |
T |
4: 143,917,302 (GRCm39) |
|
probably benign |
Het |
Or13g1 |
T |
C |
7: 85,955,809 (GRCm39) |
I171V |
probably benign |
Het |
Or2a57 |
A |
G |
6: 43,213,318 (GRCm39) |
M259V |
probably benign |
Het |
Or52a24 |
A |
G |
7: 103,381,414 (GRCm39) |
I94V |
probably damaging |
Het |
Otos |
T |
C |
1: 92,572,167 (GRCm39) |
Y53C |
probably damaging |
Het |
Oxct2a |
A |
T |
4: 123,216,252 (GRCm39) |
C376* |
probably null |
Het |
Pate12 |
A |
T |
9: 36,344,156 (GRCm39) |
K46N |
probably benign |
Het |
Phf14 |
C |
A |
6: 11,987,619 (GRCm39) |
Q633K |
probably benign |
Het |
Pkdrej |
T |
A |
15: 85,700,602 (GRCm39) |
N1778I |
probably damaging |
Het |
Psmc3 |
C |
T |
2: 90,885,974 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
T |
5: 28,544,274 (GRCm39) |
I177F |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,587,725 (GRCm39) |
V1340M |
possibly damaging |
Het |
Sema7a |
T |
C |
9: 57,863,663 (GRCm39) |
W279R |
probably damaging |
Het |
Slc2a10 |
A |
T |
2: 165,356,675 (GRCm39) |
I112F |
probably damaging |
Het |
Stk4 |
C |
A |
2: 163,993,601 (GRCm39) |
S77R |
possibly damaging |
Het |
Stk4 |
T |
A |
2: 163,993,602 (GRCm39) |
W78R |
probably damaging |
Het |
Syf2 |
T |
A |
4: 134,662,283 (GRCm39) |
L99* |
probably null |
Het |
Tas2r104 |
A |
T |
6: 131,661,968 (GRCm39) |
I247K |
probably damaging |
Het |
Usp15 |
G |
T |
10: 122,967,303 (GRCm39) |
R368S |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,047,905 (GRCm39) |
L20F |
probably benign |
Het |
Zcchc4 |
A |
T |
5: 52,976,559 (GRCm39) |
H451L |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTATGTCTATATCACAGGCCTGG -3'
(R):5'- GACAGCTGTGTTTGTCTCAGAC -3'
Sequencing Primer
(F):5'- TCACAGGCCTGGGAGTCAAAC -3'
(R):5'- TCTCAGACTCTTAGGGCAGACAG -3'
|
Posted On |
2016-04-27 |