Incidental Mutation 'IGL02136:Ksr2'
ID |
281326 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ksr2
|
Ensembl Gene |
ENSMUSG00000061578 |
Gene Name |
kinase suppressor of ras 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
IGL02136
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117754959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 351
(N351S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180430]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180430
AA Change: N351S
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000137670 Gene: ENSMUSG00000061578 AA Change: N351S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,286,301 (GRCm39) |
T2511K |
probably damaging |
Het |
Acta2 |
T |
A |
19: 34,229,230 (GRCm39) |
D53V |
probably damaging |
Het |
Banf1 |
G |
A |
19: 5,415,098 (GRCm39) |
A71V |
probably benign |
Het |
Cacng5 |
A |
T |
11: 107,772,557 (GRCm39) |
I97N |
probably benign |
Het |
Clec14a |
T |
A |
12: 58,315,415 (GRCm39) |
E69V |
probably damaging |
Het |
Cracr2a |
T |
C |
6: 127,606,893 (GRCm39) |
|
probably benign |
Het |
Dysf |
A |
G |
6: 84,085,149 (GRCm39) |
R845G |
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,747,945 (GRCm39) |
N949S |
possibly damaging |
Het |
Eprs1 |
T |
G |
1: 185,117,180 (GRCm39) |
W408G |
probably damaging |
Het |
Fgf14 |
G |
A |
14: 124,217,784 (GRCm39) |
P240S |
possibly damaging |
Het |
Fpgt |
G |
T |
3: 154,798,989 (GRCm39) |
A2E |
probably benign |
Het |
Galntl5 |
T |
A |
5: 25,425,060 (GRCm39) |
S392R |
probably benign |
Het |
Gatd1 |
A |
G |
7: 140,988,873 (GRCm39) |
*221Q |
probably null |
Het |
Gcsam |
T |
A |
16: 45,430,896 (GRCm39) |
M1K |
probably null |
Het |
Map1a |
T |
C |
2: 121,130,693 (GRCm39) |
V503A |
probably damaging |
Het |
Myl12a |
T |
A |
17: 71,303,851 (GRCm39) |
K9* |
probably null |
Het |
Ncapg2 |
A |
T |
12: 116,424,203 (GRCm39) |
M1129L |
probably benign |
Het |
Or11g2 |
T |
C |
14: 50,855,708 (GRCm39) |
S10P |
possibly damaging |
Het |
Or8k41 |
T |
C |
2: 86,313,809 (GRCm39) |
I92M |
probably damaging |
Het |
Otof |
T |
C |
5: 30,531,336 (GRCm39) |
K1691E |
possibly damaging |
Het |
Pdk4 |
A |
T |
6: 5,486,715 (GRCm39) |
M353K |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,345,839 (GRCm39) |
W2730R |
probably damaging |
Het |
Pkn2 |
T |
A |
3: 142,559,351 (GRCm39) |
K58I |
probably damaging |
Het |
Plk5 |
T |
C |
10: 80,199,001 (GRCm39) |
|
probably null |
Het |
Prkcq |
T |
C |
2: 11,265,479 (GRCm39) |
F399L |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 22,972,821 (GRCm39) |
V244M |
probably damaging |
Het |
Rpusd2 |
T |
C |
2: 118,868,659 (GRCm39) |
F361L |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,064,252 (GRCm39) |
L1168I |
possibly damaging |
Het |
S100a9 |
T |
C |
3: 90,600,075 (GRCm39) |
H107R |
probably benign |
Het |
Serpinb3a |
T |
A |
1: 106,974,015 (GRCm39) |
M299L |
probably benign |
Het |
Slfn8 |
G |
A |
11: 82,894,291 (GRCm39) |
Q783* |
probably null |
Het |
Smc3 |
T |
C |
19: 53,624,147 (GRCm39) |
I721T |
probably benign |
Het |
Top2b |
C |
A |
14: 16,407,103 (GRCm38) |
|
probably benign |
Het |
Uvssa |
T |
A |
5: 33,549,192 (GRCm39) |
W351R |
probably damaging |
Het |
Vmn2r107 |
G |
T |
17: 20,595,168 (GRCm39) |
V574L |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
|
Other mutations in Ksr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5107:Ksr2
|
UTSW |
5 |
117,827,673 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Posted On |
2015-04-16 |