Incidental Mutation 'R5107:Ksr2'
| ID |
393599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr2
|
| Ensembl Gene |
ENSMUSG00000061578 |
| Gene Name |
kinase suppressor of ras 2 |
| Synonyms |
|
| MMRRC Submission |
042695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R5107 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117827673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 484
(V484A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180430]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180430
AA Change: V484A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: V484A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KSR1-SAM
|
24 |
152 |
1.1e-45 |
PFAM |
|
low complexity region
|
258 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
C1
|
412 |
457 |
2.74e-8 |
SMART |
|
low complexity region
|
518 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
637 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
667 |
929 |
1.1e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
667 |
929 |
1.8e-46 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit increased body fat and obesity, resulting from hyperphagia. Mice are also glucose intolerant and have high serum cholesterol, ALT, serum lipids and show hepatic steatosis. [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 |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,472 (GRCm39) |
N85S |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,708,977 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Agbl5 |
C |
A |
5: 31,049,822 (GRCm39) |
P257Q |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,118,615 (GRCm39) |
M130L |
probably damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,468,198 (GRCm39) |
|
probably null |
Het |
| Ccdc78 |
G |
A |
17: 26,006,454 (GRCm39) |
V133M |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,215,821 (GRCm39) |
K145E |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,913,057 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
C |
6: 69,608,914 (GRCm39) |
I24V |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,302 (GRCm39) |
Y93H |
probably damaging |
Het |
| Isl2 |
T |
C |
9: 55,449,570 (GRCm39) |
V82A |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,750,340 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
A |
T |
15: 101,831,226 (GRCm39) |
M225K |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,267,086 (GRCm39) |
V1592E |
possibly damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,867,533 (GRCm39) |
P736L |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,795,901 (GRCm39) |
F376I |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,409,268 (GRCm39) |
H1117Q |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,223,881 (GRCm39) |
|
probably benign |
Het |
| Myod1 |
G |
T |
7: 46,027,218 (GRCm39) |
A228S |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,702,280 (GRCm39) |
T58A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,144 (GRCm39) |
T16A |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,893 (GRCm39) |
V559E |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,870,566 (GRCm39) |
S161P |
probably benign |
Het |
| Pias1 |
C |
A |
9: 62,789,510 (GRCm39) |
A566S |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,612,623 (GRCm39) |
|
probably benign |
Het |
| Pmp22 |
A |
G |
11: 63,049,237 (GRCm39) |
E160G |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,135,062 (GRCm39) |
|
probably null |
Het |
| Prob1 |
T |
C |
18: 35,785,989 (GRCm39) |
N755S |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 124,387,912 (GRCm39) |
K215* |
probably null |
Het |
| Scaper |
A |
G |
9: 55,487,616 (GRCm39) |
S749P |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,305,075 (GRCm39) |
E77G |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,627,572 (GRCm39) |
S490* |
probably null |
Het |
| Slc26a2 |
A |
G |
18: 61,331,632 (GRCm39) |
Y600H |
probably damaging |
Het |
| Slfn8 |
A |
C |
11: 82,907,976 (GRCm39) |
I189S |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,885,752 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
G |
A |
2: 30,036,733 (GRCm39) |
E205K |
probably damaging |
Het |
| Tex47 |
C |
T |
5: 7,354,842 (GRCm39) |
R8W |
probably benign |
Het |
| Tmem198b |
T |
C |
10: 128,638,156 (GRCm39) |
T136A |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,305,705 (GRCm39) |
Q414R |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,608,496 (GRCm39) |
I16063T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,693,905 (GRCm39) |
V321A |
possibly damaging |
Het |
| Ubox5 |
A |
G |
2: 130,441,688 (GRCm39) |
L333P |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,286,602 (GRCm39) |
Y78* |
probably null |
Het |
| Wnk4 |
A |
G |
11: 101,166,364 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,054 (GRCm39) |
D765G |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,342,205 (GRCm39) |
G1482V |
probably damaging |
Het |
| Znhit1 |
A |
G |
5: 137,015,682 (GRCm39) |
V2A |
probably benign |
Het |
|
| Other mutations in Ksr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02136:Ksr2
|
APN |
5 |
117,754,959 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02231:Ksr2
|
APN |
5 |
117,638,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02634:Ksr2
|
APN |
5 |
117,901,394 (GRCm39) |
splice site |
probably benign |
|
|
IGL02669:Ksr2
|
APN |
5 |
117,693,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03116:Ksr2
|
APN |
5 |
117,846,022 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03168:Ksr2
|
APN |
5 |
117,886,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Ksr2
|
APN |
5 |
117,840,783 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
float
|
UTSW |
5 |
117,809,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
gigante
|
UTSW |
5 |
117,809,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
loft
|
UTSW |
5 |
117,638,857 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0133:Ksr2
|
UTSW |
5 |
117,693,359 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0811:Ksr2
|
UTSW |
5 |
117,693,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Ksr2
|
UTSW |
5 |
117,693,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Ksr2
|
UTSW |
5 |
117,693,020 (GRCm39) |
splice site |
probably benign |
|
|
R1420:Ksr2
|
UTSW |
5 |
117,552,904 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1717:Ksr2
|
UTSW |
5 |
117,809,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1809:Ksr2
|
UTSW |
5 |
117,693,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Ksr2
|
UTSW |
5 |
117,553,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Ksr2
|
UTSW |
5 |
117,643,594 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1868:Ksr2
|
UTSW |
5 |
117,643,594 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3024:Ksr2
|
UTSW |
5 |
117,693,125 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3499:Ksr2
|
UTSW |
5 |
117,827,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3687:Ksr2
|
UTSW |
5 |
117,693,044 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3688:Ksr2
|
UTSW |
5 |
117,693,044 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4044:Ksr2
|
UTSW |
5 |
117,693,127 (GRCm39) |
nonsense |
probably null |
|
|
R4579:Ksr2
|
UTSW |
5 |
117,894,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4697:Ksr2
|
UTSW |
5 |
117,846,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Ksr2
|
UTSW |
5 |
117,806,392 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5016:Ksr2
|
UTSW |
5 |
117,638,857 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5150:Ksr2
|
UTSW |
5 |
117,693,074 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5326:Ksr2
|
UTSW |
5 |
117,846,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Ksr2
|
UTSW |
5 |
117,846,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Ksr2
|
UTSW |
5 |
117,886,864 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6257:Ksr2
|
UTSW |
5 |
117,552,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6316:Ksr2
|
UTSW |
5 |
117,823,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:Ksr2
|
UTSW |
5 |
117,552,907 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6460:Ksr2
|
UTSW |
5 |
117,894,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6874:Ksr2
|
UTSW |
5 |
117,894,401 (GRCm39) |
nonsense |
probably null |
|
|
R6939:Ksr2
|
UTSW |
5 |
117,903,626 (GRCm39) |
makesense |
probably null |
|
|
R7352:Ksr2
|
UTSW |
5 |
117,827,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7594:Ksr2
|
UTSW |
5 |
117,693,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7840:Ksr2
|
UTSW |
5 |
117,693,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7919:Ksr2
|
UTSW |
5 |
117,899,418 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8152:Ksr2
|
UTSW |
5 |
117,809,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8949:Ksr2
|
UTSW |
5 |
117,823,560 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9133:Ksr2
|
UTSW |
5 |
117,841,319 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9299:Ksr2
|
UTSW |
5 |
117,885,399 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9356:Ksr2
|
UTSW |
5 |
117,827,706 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9592:Ksr2
|
UTSW |
5 |
117,894,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Ksr2
|
UTSW |
5 |
117,885,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Ksr2
|
UTSW |
5 |
117,693,283 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Ksr2
|
UTSW |
5 |
117,885,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ksr2
|
UTSW |
5 |
117,885,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ksr2
|
UTSW |
5 |
117,846,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGAACATTTGTCATGGTG -3'
(R):5'- GCTTTGCTGCATATAAACCACC -3'
Sequencing Primer
(F):5'- GAACATTTGTCATGGTGATTCATAGC -3'
(R):5'- GCCCAGGAGAGTGAGTGTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation