Incidental Mutation 'R1162:Ksr2'
| ID |
100459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr2
|
| Ensembl Gene |
ENSMUSG00000061578 |
| Gene Name |
kinase suppressor of ras 2 |
| Synonyms |
|
| MMRRC Submission |
039235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1162 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 117693020 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 |
noncoding transcript
Transcript: ENSMUST00000073347
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
| Validation Efficiency |
98% (55/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
C |
4: 156,206,875 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
T |
A |
15: 11,277,544 (GRCm39) |
|
probably null |
Het |
| Ccn3 |
T |
A |
15: 54,611,178 (GRCm39) |
C104* |
probably null |
Het |
| Cops4 |
T |
C |
5: 100,678,023 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,861,891 (GRCm39) |
C125R |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,774,789 (GRCm39) |
I65N |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,546,559 (GRCm39) |
H743L |
possibly damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,663,647 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
A |
T |
16: 70,178,738 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
A |
G |
16: 47,894,395 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch1 |
A |
G |
7: 35,002,905 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
G |
14: 45,481,615 (GRCm39) |
I144V |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,238,185 (GRCm39) |
S563P |
probably benign |
Het |
| Insl5 |
C |
T |
4: 102,875,438 (GRCm39) |
R104Q |
probably benign |
Het |
| Kcnj2 |
T |
A |
11: 110,963,793 (GRCm39) |
V395D |
probably benign |
Het |
| Lrrc4 |
C |
A |
6: 28,831,083 (GRCm39) |
L177F |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,855,799 (GRCm39) |
E1506G |
possibly damaging |
Het |
| Morc3 |
A |
C |
16: 93,649,996 (GRCm39) |
Y259S |
probably damaging |
Het |
| Mrpl43 |
T |
G |
19: 44,994,797 (GRCm39) |
S13R |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,439 (GRCm39) |
N1724D |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,529,186 (GRCm39) |
M237T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,185,788 (GRCm39) |
|
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2h15 |
A |
T |
17: 38,441,984 (GRCm39) |
V33D |
possibly damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,735 (GRCm39) |
R233G |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,230,120 (GRCm39) |
N307S |
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,973,117 (GRCm39) |
|
probably benign |
Het |
| Ppef2 |
A |
C |
5: 92,400,980 (GRCm39) |
F13L |
probably benign |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Sap130 |
C |
T |
18: 31,781,226 (GRCm39) |
P130S |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,634,710 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
C |
A |
19: 44,506,087 (GRCm39) |
E940* |
probably null |
Het |
| Sgce |
A |
G |
6: 4,691,419 (GRCm39) |
|
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,240,600 (GRCm39) |
I155N |
probably damaging |
Het |
| Sirt2 |
A |
T |
7: 28,485,247 (GRCm39) |
D218V |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 39,952,549 (GRCm39) |
H315R |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,906,538 (GRCm39) |
Y306H |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,800,483 (GRCm39) |
V23A |
probably damaging |
Het |
| Trak1 |
G |
T |
9: 121,282,407 (GRCm39) |
V429F |
possibly damaging |
Het |
| Trat1 |
T |
C |
16: 48,560,572 (GRCm39) |
S102G |
possibly damaging |
Het |
| Trub1 |
G |
A |
19: 57,461,191 (GRCm39) |
V156I |
probably benign |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,100,561 (GRCm39) |
T1076S |
probably benign |
Het |
| Vangl2 |
A |
G |
1: 171,832,414 (GRCm39) |
Y481H |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,845,195 (GRCm39) |
I853F |
probably benign |
Het |
| Yrdc |
T |
C |
4: 124,748,254 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
A |
T |
13: 67,465,259 (GRCm39) |
C335S |
probably damaging |
Het |
| Zfp872 |
A |
G |
9: 22,110,910 (GRCm39) |
S149G |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation