Incidental Mutation 'R0563:Rps6ka2'
| ID |
46032 |
| 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 |
038754-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R0563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
7437514-7570714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7521836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 198
(I198F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024575]
[ENSMUST00000232527]
|
| AlphaFold |
Q9WUT3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024575
AA Change: I198F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024575
Gene: ENSMUSG00000023809
AA Change: I198F
| 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: ENSMUST00000232136
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232527
AA Change: I164F
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.7594 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,586,635 (GRCm39) |
P146T |
probably damaging |
Het |
| Ambn |
A |
C |
5: 88,611,309 (GRCm39) |
N163T |
probably benign |
Het |
| Ankrd36 |
A |
T |
11: 5,579,322 (GRCm39) |
E870D |
probably benign |
Het |
| Cdc123 |
T |
C |
2: 5,803,212 (GRCm39) |
N269S |
probably benign |
Het |
| Cdc7 |
A |
T |
5: 107,120,776 (GRCm39) |
|
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,762,738 (GRCm39) |
V402D |
possibly damaging |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Dcdc5 |
G |
A |
2: 106,180,035 (GRCm39) |
|
noncoding transcript |
Het |
| Eif4g3 |
T |
C |
4: 137,903,151 (GRCm39) |
|
probably benign |
Het |
| Elovl4 |
C |
T |
9: 83,667,087 (GRCm39) |
|
probably null |
Het |
| Fhl5 |
T |
G |
4: 25,213,610 (GRCm39) |
I109L |
probably damaging |
Het |
| Gm16181 |
A |
G |
17: 35,442,872 (GRCm39) |
|
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,585,483 (GRCm39) |
Y287C |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,730,268 (GRCm39) |
C1720S |
probably benign |
Het |
| Gypa |
T |
A |
8: 81,236,089 (GRCm39) |
S165T |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,993,241 (GRCm39) |
D531G |
probably damaging |
Het |
| Hsf2bp |
A |
T |
17: 32,226,692 (GRCm39) |
L221Q |
probably damaging |
Het |
| Itsn1 |
A |
G |
16: 91,617,684 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
T |
C |
7: 79,352,020 (GRCm39) |
E914G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,640,926 (GRCm39) |
D3506G |
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,195,135 (GRCm39) |
N225S |
probably damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,875,925 (GRCm39) |
L196Q |
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,041,820 (GRCm39) |
C1245R |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,777 (GRCm39) |
K183R |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mindy2 |
T |
A |
9: 70,538,334 (GRCm39) |
I334L |
possibly damaging |
Het |
| Mrm1 |
A |
G |
11: 84,705,539 (GRCm39) |
S287P |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,234,056 (GRCm39) |
I382T |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,702,342 (GRCm39) |
T30A |
probably benign |
Het |
| Nelfe |
A |
G |
17: 35,073,215 (GRCm39) |
E250G |
possibly damaging |
Het |
| Nsd1 |
C |
A |
13: 55,394,391 (GRCm39) |
T767K |
possibly damaging |
Het |
| Or1i2 |
G |
A |
10: 78,448,467 (GRCm39) |
P3S |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,625,013 (GRCm39) |
K227* |
probably null |
Het |
| Or4e5 |
T |
A |
14: 52,727,714 (GRCm39) |
K236* |
probably null |
Het |
| Or5b111 |
A |
G |
19: 13,291,112 (GRCm39) |
I179T |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 81,964,718 (GRCm39) |
D295G |
probably damaging |
Het |
| Pex14 |
A |
G |
4: 149,046,003 (GRCm39) |
V309A |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,933,600 (GRCm39) |
|
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,573,333 (GRCm39) |
D399G |
possibly damaging |
Het |
| Prim1 |
A |
G |
10: 127,862,423 (GRCm39) |
D340G |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,454,207 (GRCm39) |
F564L |
probably damaging |
Het |
| Rcc1l |
G |
C |
5: 134,205,394 (GRCm39) |
R54G |
probably benign |
Het |
| Rnf151 |
G |
A |
17: 24,936,430 (GRCm39) |
|
probably benign |
Het |
| Rnf40 |
T |
C |
7: 127,192,048 (GRCm39) |
L398P |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,769,174 (GRCm39) |
T531I |
probably benign |
Het |
| Sgk2 |
T |
C |
2: 162,846,164 (GRCm39) |
L264P |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,734,869 (GRCm39) |
I281N |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,935,921 (GRCm39) |
K2657N |
probably benign |
Het |
| Tor1aip1 |
G |
A |
1: 155,911,554 (GRCm39) |
T143M |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,284,609 (GRCm39) |
D358G |
probably benign |
Het |
| Vstm2b |
T |
C |
7: 40,551,899 (GRCm39) |
S76P |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 32,019,792 (GRCm39) |
K488R |
possibly damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,997,915 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTCAAGACTAGGTCCTTGGTTC -3'
(R):5'- TGCTCACATTCAGAAGGCCAGCAC -3'
Sequencing Primer
(F):5'- TGCAGATTGCCATAGTAGAACC -3'
(R):5'- CTTGGGTATAAAAAAGACTCAGCC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation