Incidental Mutation 'IGL02634:Ksr2'
| ID |
301454 |
| 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: 0.103)
|
| Stock # |
IGL02634
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 117901394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
T |
A |
11: 50,683,548 (GRCm39) |
C943* |
probably null |
Het |
| Arhgef28 |
A |
T |
13: 98,187,566 (GRCm39) |
V243D |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,038,884 (GRCm39) |
I62K |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,427,863 (GRCm39) |
T416A |
probably benign |
Het |
| AW209491 |
A |
G |
13: 14,812,268 (GRCm39) |
T374A |
probably damaging |
Het |
| Brcc3 |
T |
C |
X: 74,479,704 (GRCm39) |
|
probably benign |
Het |
| Ccdc181 |
T |
G |
1: 164,107,514 (GRCm39) |
S66A |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,320 (GRCm39) |
I435T |
probably benign |
Het |
| Cdc14b |
C |
A |
13: 64,364,117 (GRCm39) |
|
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,617,477 (GRCm39) |
S48P |
probably damaging |
Het |
| Ciita |
C |
A |
16: 10,326,577 (GRCm39) |
S253Y |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,877,533 (GRCm39) |
R1005H |
probably damaging |
Het |
| Dsg4 |
A |
T |
18: 20,591,637 (GRCm39) |
I459F |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,103,506 (GRCm39) |
E361G |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,310,422 (GRCm39) |
D280G |
probably benign |
Het |
| Fignl1 |
G |
A |
11: 11,752,756 (GRCm39) |
R100* |
probably null |
Het |
| Ggcx |
G |
T |
6: 72,395,286 (GRCm39) |
A126S |
probably damaging |
Het |
| Hdgfl1 |
A |
G |
13: 26,953,786 (GRCm39) |
S96P |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,764,622 (GRCm39) |
L1541F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,145,289 (GRCm39) |
E888G |
possibly damaging |
Het |
| Kank4 |
T |
A |
4: 98,667,064 (GRCm39) |
Q461L |
probably benign |
Het |
| Klhl20 |
C |
T |
1: 160,925,935 (GRCm39) |
V438M |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,620,171 (GRCm39) |
S27R |
probably damaging |
Het |
| Lrrc37a |
C |
T |
11: 103,389,938 (GRCm39) |
S1829N |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,945,611 (GRCm39) |
L4585P |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,978 (GRCm39) |
N9S |
probably benign |
Het |
| Palm3 |
T |
G |
8: 84,755,494 (GRCm39) |
S335R |
probably damaging |
Het |
| Pcsk7 |
C |
T |
9: 45,830,560 (GRCm39) |
A446V |
possibly damaging |
Het |
| Penk |
A |
G |
4: 4,134,065 (GRCm39) |
L194P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,403,063 (GRCm39) |
F2255S |
probably damaging |
Het |
| Plcd3 |
G |
A |
11: 102,968,653 (GRCm39) |
S31F |
probably damaging |
Het |
| Pou2af2 |
A |
G |
9: 51,203,055 (GRCm39) |
L33P |
possibly damaging |
Het |
| Ppp6r2 |
C |
T |
15: 89,159,680 (GRCm39) |
Q456* |
probably null |
Het |
| Rbbp8nl |
T |
C |
2: 179,922,688 (GRCm39) |
D235G |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,283,307 (GRCm39) |
N457K |
probably benign |
Het |
| Rpgrip1l |
C |
A |
8: 91,951,972 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,595,787 (GRCm39) |
F148L |
probably benign |
Het |
| Slc45a2 |
A |
T |
15: 11,023,440 (GRCm39) |
H348L |
probably benign |
Het |
| Smg8 |
C |
T |
11: 86,977,498 (GRCm39) |
A28T |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,285,356 (GRCm39) |
I436T |
probably damaging |
Het |
| Synj2 |
G |
A |
17: 6,080,035 (GRCm39) |
R1088H |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,535,366 (GRCm39) |
Y422H |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,108,345 (GRCm39) |
I503F |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,961,382 (GRCm39) |
|
probably benign |
Het |
| Zp1 |
T |
C |
19: 10,896,871 (GRCm39) |
|
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 |
|
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 |
Incidental Mutation