Incidental Mutation 'IGL02231:Ksr2'
| ID |
285692 |
| 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 # |
IGL02231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 117638841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 82
(R82C)
|
| 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 damaging
Transcript: ENSMUST00000180430
AA Change: R82C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: R82C
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alcam |
T |
A |
16: 52,094,413 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
A |
C |
11: 70,240,382 (GRCm39) |
D266E |
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,382 (GRCm39) |
V314E |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,683,455 (GRCm39) |
G758R |
possibly damaging |
Het |
| Bltp2 |
G |
A |
11: 78,170,722 (GRCm39) |
G1647D |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,254,869 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,719,709 (GRCm39) |
V2429A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,453,021 (GRCm39) |
D11E |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,209 (GRCm39) |
T573A |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,807 (GRCm39) |
S140T |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,805,849 (GRCm39) |
D50G |
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,435 (GRCm39) |
T438I |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,525,700 (GRCm39) |
V173I |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,171,918 (GRCm39) |
T2932A |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,292,469 (GRCm39) |
E154K |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,470 (GRCm39) |
E154V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,386,273 (GRCm39) |
L244* |
probably null |
Het |
| Itgae |
A |
T |
11: 72,981,448 (GRCm39) |
K2M |
possibly damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,723,508 (GRCm39) |
I654V |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,833,041 (GRCm39) |
D305V |
probably damaging |
Het |
| Me1 |
T |
C |
9: 86,493,908 (GRCm39) |
K322E |
possibly damaging |
Het |
| Med12l |
T |
A |
3: 59,153,303 (GRCm39) |
D1109E |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,740,772 (GRCm39) |
K73E |
possibly damaging |
Het |
| Nup155 |
T |
G |
15: 8,173,548 (GRCm39) |
L881R |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,677,622 (GRCm39) |
S2T |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,676,803 (GRCm39) |
L54S |
probably damaging |
Het |
| Pkp3 |
G |
A |
7: 140,664,151 (GRCm39) |
E443K |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,536,603 (GRCm39) |
C632S |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,838,794 (GRCm39) |
V320I |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 162,079,980 (GRCm39) |
I273N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 162,119,966 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
T |
C |
1: 184,999,095 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
A |
5: 130,240,816 (GRCm39) |
A312T |
probably damaging |
Het |
| Rabl6 |
T |
A |
2: 25,488,196 (GRCm39) |
K109N |
probably benign |
Het |
| Rbp7 |
C |
T |
4: 149,539,334 (GRCm39) |
|
probably null |
Het |
| Reg3a |
C |
T |
6: 78,359,224 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Rnf123 |
G |
T |
9: 107,943,598 (GRCm39) |
P546T |
probably benign |
Het |
| Rnmt |
C |
A |
18: 68,447,152 (GRCm39) |
C345* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,252,236 (GRCm39) |
S25N |
possibly damaging |
Het |
| Spata16 |
G |
T |
3: 26,967,413 (GRCm39) |
G388W |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,400,031 (GRCm39) |
R2493W |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,736,125 (GRCm39) |
D970V |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,331,441 (GRCm39) |
Y103H |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,628,440 (GRCm39) |
D12827E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,627,030 (GRCm39) |
L976S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,909 (GRCm39) |
|
probably null |
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 |
|
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 |
Incidental Mutation