Incidental Mutation 'R4697:Ksr2'
ID |
355763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ksr2
|
Ensembl Gene |
ENSMUSG00000061578 |
Gene Name |
kinase suppressor of ras 2 |
Synonyms |
|
MMRRC Submission |
041947-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R4697 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 117846212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 693
(R693Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180430]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180430
AA Change: R693Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137670 Gene: ENSMUSG00000061578 AA Change: R693Q
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 |
0.3301 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
96% (75/78) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,615,243 (GRCm39) |
M1T |
probably null |
Het |
Aatf |
T |
A |
11: 84,339,964 (GRCm39) |
D449V |
probably damaging |
Het |
Acbd3 |
T |
A |
1: 180,549,509 (GRCm39) |
|
probably benign |
Het |
Bicc1 |
T |
A |
10: 70,789,314 (GRCm39) |
I366F |
possibly damaging |
Het |
Ccdc74a |
T |
C |
16: 17,467,613 (GRCm39) |
S184P |
possibly damaging |
Het |
Cntn4 |
T |
C |
6: 106,502,446 (GRCm39) |
V401A |
probably damaging |
Het |
Cux2 |
T |
C |
5: 122,011,816 (GRCm39) |
T540A |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,622,165 (GRCm39) |
E966* |
probably null |
Het |
Dpp7 |
A |
G |
2: 25,244,931 (GRCm39) |
Y209H |
probably benign |
Het |
Dstyk |
T |
A |
1: 132,377,225 (GRCm39) |
F277Y |
probably damaging |
Het |
Dtx1 |
A |
T |
5: 120,832,473 (GRCm39) |
|
probably null |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Ednra |
T |
C |
8: 78,391,624 (GRCm39) |
H422R |
probably benign |
Het |
Erlec1 |
T |
A |
11: 30,902,640 (GRCm39) |
I67F |
probably benign |
Het |
Fam161b |
G |
A |
12: 84,395,332 (GRCm39) |
|
probably benign |
Het |
Gata5 |
A |
T |
2: 179,969,172 (GRCm39) |
C345* |
probably null |
Het |
Glmp |
T |
C |
3: 88,235,581 (GRCm39) |
V47A |
probably damaging |
Het |
Gm9762 |
T |
A |
3: 78,873,857 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
A |
T |
2: 174,139,873 (GRCm39) |
D14V |
probably damaging |
Het |
Gnl3 |
T |
C |
14: 30,739,286 (GRCm39) |
S53G |
probably damaging |
Het |
Grhl3 |
C |
T |
4: 135,275,777 (GRCm39) |
V527M |
probably damaging |
Het |
Hoxd10 |
T |
A |
2: 74,524,531 (GRCm39) |
L281* |
probably null |
Het |
Kif16b |
T |
G |
2: 142,532,614 (GRCm39) |
Y1175S |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,467,672 (GRCm39) |
S204P |
probably benign |
Het |
Klhl40 |
T |
A |
9: 121,607,800 (GRCm39) |
I320N |
probably damaging |
Het |
Mis12 |
A |
G |
11: 70,916,152 (GRCm39) |
K62E |
possibly damaging |
Het |
Mlc1 |
A |
G |
15: 88,858,980 (GRCm39) |
C102R |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,411,098 (GRCm39) |
I1348T |
unknown |
Het |
Myh7b |
A |
G |
2: 155,471,242 (GRCm39) |
E1130G |
probably damaging |
Het |
Nat8f4 |
T |
C |
6: 85,878,368 (GRCm39) |
T52A |
probably benign |
Het |
Nxpe2 |
C |
A |
9: 48,231,821 (GRCm39) |
V379L |
probably benign |
Het |
Or10ad1c |
G |
A |
15: 98,084,749 (GRCm39) |
R310W |
probably damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,247 (GRCm39) |
S230C |
probably damaging |
Het |
Or4c1 |
C |
A |
2: 89,133,246 (GRCm39) |
S230I |
possibly damaging |
Het |
Or5b111 |
A |
T |
19: 13,291,081 (GRCm39) |
D189E |
probably benign |
Het |
Or5b12 |
C |
T |
19: 12,897,298 (GRCm39) |
C125Y |
probably damaging |
Het |
Pcdhga7 |
A |
T |
18: 37,850,261 (GRCm39) |
Y756F |
probably damaging |
Het |
Pcsk6 |
T |
A |
7: 65,608,989 (GRCm39) |
Y284N |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,114,786 (GRCm39) |
V1367A |
possibly damaging |
Het |
Postn |
T |
A |
3: 54,282,492 (GRCm39) |
N484K |
probably damaging |
Het |
Prkd3 |
C |
T |
17: 79,268,600 (GRCm39) |
V572I |
probably benign |
Het |
Qser1 |
T |
C |
2: 104,617,528 (GRCm39) |
S1005G |
probably benign |
Het |
Radil |
G |
T |
5: 142,472,556 (GRCm39) |
D951E |
probably benign |
Het |
Ripk1 |
C |
T |
13: 34,211,925 (GRCm39) |
R352* |
probably null |
Het |
Sacs |
T |
C |
14: 61,450,196 (GRCm39) |
F4081L |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,199,288 (GRCm39) |
V11A |
possibly damaging |
Het |
Sgip1 |
T |
A |
4: 102,791,784 (GRCm39) |
F536I |
probably damaging |
Het |
Slc45a1 |
A |
G |
4: 150,722,741 (GRCm39) |
L381P |
probably damaging |
Het |
Smarcad1 |
C |
T |
6: 65,029,625 (GRCm39) |
P71L |
probably benign |
Het |
Spns1 |
T |
A |
7: 125,976,209 (GRCm39) |
D14V |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,122,526 (GRCm39) |
I417F |
possibly damaging |
Het |
Tas2r113 |
T |
A |
6: 132,870,479 (GRCm39) |
M169K |
probably benign |
Het |
Tgm1 |
A |
T |
14: 55,943,138 (GRCm39) |
N567K |
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,670,106 (GRCm39) |
K1543E |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
Tspan18 |
A |
T |
2: 93,142,375 (GRCm39) |
|
probably null |
Het |
Txndc11 |
C |
T |
16: 10,902,178 (GRCm39) |
V679I |
probably damaging |
Het |
Usf1 |
G |
T |
1: 171,244,532 (GRCm39) |
G144V |
possibly damaging |
Het |
Vmn1r59 |
T |
C |
7: 5,457,451 (GRCm39) |
Y103C |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,718,785 (GRCm39) |
I713F |
probably damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,687,168 (GRCm39) |
I850F |
probably damaging |
Het |
Vps35l |
T |
A |
7: 118,390,671 (GRCm39) |
I455N |
probably damaging |
Het |
Wdr90 |
C |
T |
17: 26,074,337 (GRCm39) |
R676H |
probably benign |
Het |
Zfp867 |
G |
A |
11: 59,354,487 (GRCm39) |
R281W |
probably damaging |
Het |
Zfp939 |
T |
C |
7: 39,122,366 (GRCm39) |
|
noncoding transcript |
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 |
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 |
PCR Primer
(F):5'- CCACAATGAAGCAGAGGAGTCC -3'
(R):5'- TGCACAAAGCCCTTAGATGTTC -3'
Sequencing Primer
(F):5'- GTTTGAAGAGATGAACCTATCCCTCC -3'
(R):5'- AAAGCCCTTAGATGTTCCCATC -3'
|
Posted On |
2015-10-21 |