Incidental Mutation 'R2697:Rps6ka2'
| ID |
251240 |
| 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 |
040435-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R2697 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
7437514-7570714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 7567721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 728
(L728R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024575]
|
| AlphaFold |
Q9WUT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024575
AA Change: L728R
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: L728R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,619 (GRCm39) |
S46G |
unknown |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam7 |
A |
T |
14: 68,752,232 (GRCm39) |
C417* |
probably null |
Het |
| Adgrl4 |
A |
C |
3: 151,216,260 (GRCm39) |
Q481P |
probably damaging |
Het |
| Adra2c |
C |
A |
5: 35,438,042 (GRCm39) |
N271K |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,580,097 (GRCm39) |
K2035R |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,625,305 (GRCm39) |
T182A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,308,746 (GRCm39) |
Y805H |
probably damaging |
Het |
| BC024139 |
TCCACCACCACCACCACCAC |
TCCACCACCACCACCAC |
15: 76,004,393 (GRCm39) |
|
probably benign |
Het |
| Cabp7 |
C |
T |
11: 4,688,837 (GRCm39) |
R211H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,888 (GRCm39) |
N112S |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,873,197 (GRCm39) |
D45N |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,483,529 (GRCm39) |
Y872C |
probably damaging |
Het |
| Cradd |
A |
G |
10: 95,011,807 (GRCm39) |
L111P |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,079,815 (GRCm39) |
L155P |
probably damaging |
Het |
| Fgd2 |
A |
T |
17: 29,595,895 (GRCm39) |
T518S |
probably damaging |
Het |
| Gpam |
C |
T |
19: 55,071,641 (GRCm39) |
E367K |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,243,126 (GRCm39) |
N1826I |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,549,656 (GRCm39) |
E357G |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,755,364 (GRCm39) |
D465V |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,572,466 (GRCm39) |
V407E |
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,174,157 (GRCm39) |
V221A |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,406,688 (GRCm39) |
S144P |
possibly damaging |
Het |
| Mtfmt |
T |
C |
9: 65,359,303 (GRCm39) |
V326A |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,902,517 (GRCm39) |
D71G |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,493,274 (GRCm39) |
Y705C |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,212,859 (GRCm39) |
W311R |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,238 (GRCm39) |
A123V |
probably damaging |
Het |
| Or2a57 |
A |
T |
6: 43,213,060 (GRCm39) |
I173F |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,900 (GRCm39) |
F61S |
probably damaging |
Het |
| Or6c65 |
G |
A |
10: 129,603,793 (GRCm39) |
V143I |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,813,407 (GRCm39) |
L154Q |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,104,377 (GRCm39) |
T633A |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,862,515 (GRCm39) |
L616R |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,429 (GRCm39) |
L197S |
possibly damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,689,482 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rfng |
C |
A |
11: 120,674,865 (GRCm39) |
|
probably benign |
Het |
| Slc41a3 |
C |
A |
6: 90,619,302 (GRCm39) |
N360K |
possibly damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,726,397 (GRCm39) |
N239S |
probably damaging |
Het |
| Tacr1 |
T |
A |
6: 82,469,578 (GRCm39) |
I154N |
probably damaging |
Het |
| Tacstd2 |
T |
A |
6: 67,512,203 (GRCm39) |
H163L |
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,206,793 (GRCm39) |
D335G |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,590,052 (GRCm39) |
S1382G |
probably benign |
Het |
| Tmem43 |
A |
G |
6: 91,456,911 (GRCm39) |
E164G |
possibly damaging |
Het |
| U2af2 |
G |
A |
7: 5,070,545 (GRCm39) |
R78H |
probably benign |
Het |
| Yipf7 |
T |
A |
5: 69,698,483 (GRCm39) |
D8V |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,639,124 (GRCm39) |
H456Y |
probably damaging |
Het |
| Zfp799 |
G |
A |
17: 33,039,214 (GRCm39) |
R351* |
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,553,016 (GRCm39) |
D715G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACCAGGAATCTTGGAGGAG -3'
(R):5'- TCCAGGGCTGCAAAGGAAAC -3'
Sequencing Primer
(F):5'- TAGACTGAGGCTCTCAAGGTC -3'
(R):5'- CAGAGAGACAGCCAAGGCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation