Incidental Mutation 'R7510:Rps6ka5'
| ID |
582047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| MMRRC Submission |
045583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100582327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 182
(I182V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043599]
[ENSMUST00000222731]
|
| AlphaFold |
Q8C050 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043599
AA Change: I182V
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: I182V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
S_TKc
|
48 |
317 |
1.08e-101 |
SMART |
|
S_TK_X
|
318 |
378 |
2.45e-13 |
SMART |
|
S_TKc
|
425 |
751 |
1.1e-75 |
SMART |
|
low complexity region
|
812 |
832 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222731
AA Change: I182V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
| Validation Efficiency |
97% (65/67) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a mutant allele exhibit altered response to cocaine including decreased hyperlocomotor activity and sensitization at a lower dose. Mice homozygous for a kinase dead allele exhibit altered experience-dependent synaptic plasticity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b1 |
C |
T |
10: 98,829,758 (GRCm39) |
R320C |
probably benign |
Het |
| Bend4 |
A |
G |
5: 67,584,727 (GRCm39) |
F66L |
unknown |
Het |
| Brca2 |
T |
C |
5: 150,460,156 (GRCm39) |
V477A |
possibly damaging |
Het |
| Brms1l |
A |
T |
12: 55,892,107 (GRCm39) |
K134* |
probably null |
Het |
| Catsper1 |
A |
T |
19: 5,389,578 (GRCm39) |
T498S |
probably benign |
Het |
| Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
| D030056L22Rik |
G |
T |
19: 18,690,853 (GRCm39) |
A56S |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,869,975 (GRCm39) |
N815S |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Fancf |
A |
G |
7: 51,511,953 (GRCm39) |
V17A |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,776,948 (GRCm39) |
H361Q |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,333 (GRCm39) |
S293P |
probably damaging |
Het |
| Ghsr |
A |
T |
3: 27,426,523 (GRCm39) |
D193V |
probably benign |
Het |
| Gm14403 |
T |
A |
2: 177,200,403 (GRCm39) |
N116K |
probably benign |
Het |
| Gpr31b |
A |
G |
17: 13,270,557 (GRCm39) |
L204P |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,008,067 (GRCm39) |
E107G |
probably benign |
Het |
| Hspa14 |
T |
C |
2: 3,499,159 (GRCm39) |
S212G |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,514,035 (GRCm39) |
H80Q |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,308,013 (GRCm39) |
T267A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,042,268 (GRCm39) |
H146Q |
possibly damaging |
Het |
| Larp4 |
T |
C |
15: 99,891,258 (GRCm39) |
F228L |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,659,712 (GRCm39) |
V1288E |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,008,321 (GRCm39) |
T194A |
possibly damaging |
Het |
| Mlana |
G |
A |
19: 29,682,072 (GRCm39) |
G42S |
probably benign |
Het |
| Mlxipl |
A |
G |
5: 135,161,972 (GRCm39) |
E548G |
possibly damaging |
Het |
| Mmab |
A |
T |
5: 114,573,283 (GRCm39) |
C228S |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nrf1 |
C |
T |
6: 30,151,633 (GRCm39) |
T490I |
possibly damaging |
Het |
| Numbl |
A |
G |
7: 26,971,412 (GRCm39) |
|
probably null |
Het |
| Or12e13 |
T |
A |
2: 87,663,872 (GRCm39) |
I163K |
probably damaging |
Het |
| Or13c7 |
A |
G |
4: 43,854,482 (GRCm39) |
T58A |
probably benign |
Het |
| Or5bw2 |
C |
T |
7: 6,572,960 (GRCm39) |
|
probably benign |
Het |
| Or5v1b |
T |
A |
17: 37,841,480 (GRCm39) |
I204N |
probably damaging |
Het |
| Or6c3b |
G |
T |
10: 129,527,789 (GRCm39) |
N40K |
probably damaging |
Het |
| Or9g8 |
T |
A |
2: 85,607,153 (GRCm39) |
V75D |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,818,947 (GRCm39) |
D96N |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,645 (GRCm39) |
Y584H |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,288,761 (GRCm39) |
D310G |
possibly damaging |
Het |
| Plin5 |
T |
A |
17: 56,420,975 (GRCm39) |
H230L |
probably damaging |
Het |
| Ppp1r13l |
A |
C |
7: 19,102,726 (GRCm39) |
E47A |
possibly damaging |
Het |
| Prdm5 |
C |
T |
6: 65,904,976 (GRCm39) |
H536Y |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,451 (GRCm39) |
R728G |
possibly damaging |
Het |
| Prkca |
A |
T |
11: 107,874,820 (GRCm39) |
V374E |
possibly damaging |
Het |
| Prss3 |
A |
T |
6: 41,352,044 (GRCm39) |
L73* |
probably null |
Het |
| Prss51 |
G |
A |
14: 64,333,489 (GRCm39) |
D33N |
probably damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,006,659 (GRCm39) |
V479A |
probably damaging |
Het |
| Rpl36a-ps1 |
G |
A |
14: 99,231,666 (GRCm39) |
T24I |
probably benign |
Het |
| Saa2 |
T |
A |
7: 46,402,933 (GRCm39) |
D61E |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,106,006 (GRCm39) |
I22F |
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,800,057 (GRCm39) |
P403L |
probably damaging |
Het |
| Sap130 |
A |
G |
18: 31,844,268 (GRCm39) |
T813A |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,372,988 (GRCm39) |
F629S |
probably damaging |
Het |
| Sec61a1 |
A |
T |
6: 88,489,585 (GRCm39) |
F119I |
probably benign |
Het |
| Serpinb9 |
T |
A |
13: 33,194,768 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,092,477 (GRCm39) |
C966F |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,127,693 (GRCm39) |
V169A |
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
| Tfec |
T |
A |
6: 16,835,232 (GRCm39) |
H182L |
probably benign |
Het |
| Tigd5 |
T |
C |
15: 75,782,268 (GRCm39) |
V210A |
probably benign |
Het |
| Tssc4 |
G |
A |
7: 142,623,718 (GRCm39) |
E9K |
possibly damaging |
Het |
| Txk |
C |
G |
5: 72,893,726 (GRCm39) |
C18S |
unknown |
Het |
| Uaca |
G |
A |
9: 60,757,487 (GRCm39) |
|
probably null |
Het |
| Vmn2r1 |
A |
C |
3: 63,993,922 (GRCm39) |
K89N |
probably damaging |
Het |
| Zfp160 |
G |
A |
17: 21,246,655 (GRCm39) |
E402K |
probably benign |
Het |
|
| Other mutations in Rps6ka5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01072:Rps6ka5
|
APN |
12 |
100,540,157 (GRCm39) |
missense |
probably benign |
|
|
IGL01450:Rps6ka5
|
APN |
12 |
100,519,250 (GRCm39) |
splice site |
probably benign |
|
|
IGL01586:Rps6ka5
|
APN |
12 |
100,537,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01743:Rps6ka5
|
APN |
12 |
100,541,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02995:Rps6ka5
|
APN |
12 |
100,540,258 (GRCm39) |
intron |
probably benign |
|
|
IGL03051:Rps6ka5
|
APN |
12 |
100,582,250 (GRCm39) |
splice site |
probably null |
|
|
IGL03190:Rps6ka5
|
APN |
12 |
100,524,907 (GRCm39) |
splice site |
probably benign |
|
|
chard
|
UTSW |
12 |
100,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ramp
|
UTSW |
12 |
100,541,964 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
zwiebel
|
UTSW |
12 |
100,644,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0055:Rps6ka5
|
UTSW |
12 |
100,644,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0055:Rps6ka5
|
UTSW |
12 |
100,644,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0067:Rps6ka5
|
UTSW |
12 |
100,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Rps6ka5
|
UTSW |
12 |
100,519,428 (GRCm39) |
splice site |
probably null |
|
|
R0761:Rps6ka5
|
UTSW |
12 |
100,537,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Rps6ka5
|
UTSW |
12 |
100,540,697 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1237:Rps6ka5
|
UTSW |
12 |
100,541,964 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1254:Rps6ka5
|
UTSW |
12 |
100,585,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Rps6ka5
|
UTSW |
12 |
100,544,084 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1611:Rps6ka5
|
UTSW |
12 |
100,537,111 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2086:Rps6ka5
|
UTSW |
12 |
100,585,874 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2129:Rps6ka5
|
UTSW |
12 |
100,644,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2298:Rps6ka5
|
UTSW |
12 |
100,517,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2432:Rps6ka5
|
UTSW |
12 |
100,520,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4378:Rps6ka5
|
UTSW |
12 |
100,564,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Rps6ka5
|
UTSW |
12 |
100,547,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4461:Rps6ka5
|
UTSW |
12 |
100,537,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4584:Rps6ka5
|
UTSW |
12 |
100,547,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Rps6ka5
|
UTSW |
12 |
100,620,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4706:Rps6ka5
|
UTSW |
12 |
100,564,144 (GRCm39) |
splice site |
probably null |
|
|
R4706:Rps6ka5
|
UTSW |
12 |
100,547,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4707:Rps6ka5
|
UTSW |
12 |
100,564,144 (GRCm39) |
splice site |
probably null |
|
|
R4966:Rps6ka5
|
UTSW |
12 |
100,519,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5059:Rps6ka5
|
UTSW |
12 |
100,520,634 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5404:Rps6ka5
|
UTSW |
12 |
100,582,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Rps6ka5
|
UTSW |
12 |
100,585,839 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5678:Rps6ka5
|
UTSW |
12 |
100,691,135 (GRCm39) |
missense |
unknown |
|
|
R5992:Rps6ka5
|
UTSW |
12 |
100,541,509 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6104:Rps6ka5
|
UTSW |
12 |
100,519,407 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6163:Rps6ka5
|
UTSW |
12 |
100,562,179 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6390:Rps6ka5
|
UTSW |
12 |
100,537,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6599:Rps6ka5
|
UTSW |
12 |
100,564,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Rps6ka5
|
UTSW |
12 |
100,517,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6693:Rps6ka5
|
UTSW |
12 |
100,540,088 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7009:Rps6ka5
|
UTSW |
12 |
100,585,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Rps6ka5
|
UTSW |
12 |
100,547,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Rps6ka5
|
UTSW |
12 |
100,562,123 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7565:Rps6ka5
|
UTSW |
12 |
100,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Rps6ka5
|
UTSW |
12 |
100,524,824 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7843:Rps6ka5
|
UTSW |
12 |
100,519,408 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8009:Rps6ka5
|
UTSW |
12 |
100,544,048 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8057:Rps6ka5
|
UTSW |
12 |
100,540,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8292:Rps6ka5
|
UTSW |
12 |
100,644,791 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8324:Rps6ka5
|
UTSW |
12 |
100,524,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8428:Rps6ka5
|
UTSW |
12 |
100,541,500 (GRCm39) |
nonsense |
probably null |
|
|
R8913:Rps6ka5
|
UTSW |
12 |
100,520,595 (GRCm39) |
missense |
|
|
|
R9711:Rps6ka5
|
UTSW |
12 |
100,540,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCACTCAAGCAGTCTC -3'
(R):5'- TACATTTGGAGAGCCTGGGG -3'
Sequencing Primer
(F):5'- GCAGTCTCATATTTGAATAAGCCTGC -3'
(R):5'- GAAGCCAGCCCCTGAGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation