Incidental Mutation 'R5150:Ksr2'
| ID |
395298 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5150 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 117693074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 174
(E174A)
|
| 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: E174A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: E174A
| 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 |
0.1229 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
93% (57/61) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 130,895,117 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,988,268 (GRCm39) |
V3184A |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,084 (GRCm39) |
N320S |
possibly damaging |
Het |
| Bin2 |
T |
C |
15: 100,543,244 (GRCm39) |
E313G |
probably damaging |
Het |
| Brd10 |
C |
A |
19: 29,782,950 (GRCm39) |
A109S |
probably damaging |
Het |
| C9orf72 |
A |
G |
4: 35,193,270 (GRCm39) |
S228P |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,096,265 (GRCm39) |
D253G |
possibly damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,384 (GRCm39) |
T778A |
probably benign |
Het |
| Cops3 |
C |
A |
11: 59,710,839 (GRCm39) |
D377Y |
probably damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,350,806 (GRCm39) |
V156G |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Disp1 |
C |
A |
1: 182,871,063 (GRCm39) |
M452I |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
| Fbxo45 |
C |
A |
16: 32,065,524 (GRCm39) |
|
probably benign |
Het |
| Flrt2 |
T |
A |
12: 95,745,977 (GRCm39) |
M105K |
possibly damaging |
Het |
| Gm26558 |
G |
A |
2: 70,491,656 (GRCm39) |
|
probably benign |
Het |
| Gpr83 |
T |
G |
9: 14,772,101 (GRCm39) |
L91R |
probably damaging |
Het |
| Greb1l |
TTTAATAACTT |
TTT |
18: 10,555,950 (GRCm39) |
|
probably null |
Het |
| Hmces |
T |
A |
6: 87,910,217 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,588,415 (GRCm39) |
T1011A |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,926,957 (GRCm39) |
D120G |
probably damaging |
Het |
| Ncstn |
C |
A |
1: 171,895,151 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,059,130 (GRCm39) |
T6118A |
probably benign |
Het |
| Nipsnap2 |
A |
C |
5: 129,834,175 (GRCm39) |
M272L |
probably benign |
Het |
| Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
| Or13c7c |
A |
G |
4: 43,836,301 (GRCm39) |
L63P |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or4f15 |
T |
A |
2: 111,814,366 (GRCm39) |
T18S |
probably benign |
Het |
| Or4f61 |
T |
A |
2: 111,922,880 (GRCm39) |
L55F |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,598 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5b118 |
A |
T |
19: 13,448,794 (GRCm39) |
Q153H |
probably benign |
Het |
| Pold1 |
A |
G |
7: 44,185,256 (GRCm39) |
V750A |
possibly damaging |
Het |
| Prdm11 |
C |
T |
2: 92,805,817 (GRCm39) |
E378K |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,943,954 (GRCm39) |
D276G |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,005,369 (GRCm39) |
F1204I |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,769,192 (GRCm39) |
T537K |
possibly damaging |
Het |
| Sec31b |
T |
A |
19: 44,508,970 (GRCm39) |
M670L |
probably benign |
Het |
| Sephs1 |
T |
A |
2: 4,904,321 (GRCm39) |
V233E |
possibly damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,450,939 (GRCm39) |
|
probably null |
Het |
| Sf3b3 |
T |
C |
8: 111,550,008 (GRCm39) |
Q670R |
possibly damaging |
Het |
| Slc8a2 |
A |
C |
7: 15,879,101 (GRCm39) |
D529A |
possibly damaging |
Het |
| Sva |
A |
G |
6: 42,019,093 (GRCm39) |
N88D |
probably benign |
Het |
| Tcf15 |
G |
T |
2: 151,986,051 (GRCm39) |
R169L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,752 (GRCm39) |
T188A |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,031,340 (GRCm39) |
K1023* |
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,373,555 (GRCm39) |
N966S |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,463,554 (GRCm39) |
I225N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,184,067 (GRCm39) |
L1457S |
possibly damaging |
Het |
| Zbtb34 |
G |
T |
2: 33,301,133 (GRCm39) |
H469Q |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,198,413 (GRCm39) |
M1T |
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 |
|
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 |
|
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'- ATAGCAGGAGGTGTGTAGCC -3'
(R):5'- TCGGGTAGGCATCTACAGTG -3'
Sequencing Primer
(F):5'- ATGCACTGTGCCGAGTATAG -3'
(R):5'- GAGTCTGTCCACTTGGGTGTACAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation