Incidental Mutation 'R3499:Ksr2'
| ID |
473755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr2
|
| Ensembl Gene |
ENSMUSG00000061578 |
| Gene Name |
kinase suppressor of ras 2 |
| Synonyms |
|
| MMRRC Submission |
040662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R3499 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117827640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 473
(T473K)
|
| 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: T473K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: T473K
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430571L13Rik |
A |
T |
9: 107,219,678 (GRCm39) |
T44S |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Ctif |
A |
T |
18: 75,744,828 (GRCm39) |
L92Q |
possibly damaging |
Het |
| Dnah11 |
C |
A |
12: 117,874,758 (GRCm39) |
D4036Y |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
G |
C |
6: 73,009,616 (GRCm39) |
A3725G |
probably benign |
Het |
| Ebag9 |
A |
G |
15: 44,493,528 (GRCm39) |
N117D |
probably benign |
Het |
| Elf4 |
C |
T |
X: 47,507,942 (GRCm39) |
E158K |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,593,093 (GRCm39) |
R444* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,980 (GRCm39) |
I1648K |
probably benign |
Het |
| Fndc1 |
C |
T |
17: 7,972,416 (GRCm39) |
M1505I |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,978,815 (GRCm39) |
D195G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kxd1 |
T |
C |
8: 70,966,632 (GRCm39) |
|
probably null |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,421,098 (GRCm39) |
L52* |
probably null |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,661 (GRCm39) |
S25P |
probably benign |
Het |
| Nucb1 |
T |
C |
7: 45,148,300 (GRCm39) |
H171R |
probably benign |
Het |
| Or10d1c |
A |
G |
9: 38,893,761 (GRCm39) |
L193P |
probably damaging |
Het |
| Or4a15 |
A |
T |
2: 89,193,294 (GRCm39) |
F160I |
probably benign |
Het |
| Or56b35 |
G |
A |
7: 104,963,607 (GRCm39) |
C132Y |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,373 (GRCm39) |
F168L |
possibly damaging |
Het |
| Or8k18 |
A |
G |
2: 86,085,185 (GRCm39) |
M284T |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,585,889 (GRCm39) |
I2476F |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
| Ralgapa1 |
T |
G |
12: 55,741,928 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,721,253 (GRCm39) |
|
probably benign |
Het |
| Slc44a4 |
A |
G |
17: 35,140,656 (GRCm39) |
D283G |
probably benign |
Het |
| Slc6a9 |
A |
G |
4: 117,714,000 (GRCm39) |
I105V |
probably benign |
Het |
| Smgc |
A |
G |
15: 91,726,206 (GRCm39) |
T51A |
possibly damaging |
Het |
| Smyd5 |
T |
A |
6: 85,415,172 (GRCm39) |
L60H |
probably damaging |
Het |
| Spred1 |
A |
T |
2: 117,005,867 (GRCm39) |
M210L |
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,101,752 (GRCm39) |
|
probably null |
Het |
| Tab3 |
T |
C |
X: 84,658,727 (GRCm39) |
I418T |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,884,478 (GRCm39) |
E343V |
possibly damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,897 (GRCm39) |
I485N |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,330,894 (GRCm39) |
Y51* |
probably null |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Trip11 |
A |
G |
12: 101,859,953 (GRCm39) |
I307T |
possibly damaging |
Het |
| Ttf1 |
T |
C |
2: 28,955,499 (GRCm39) |
S288P |
possibly damaging |
Het |
| Zfp395 |
G |
T |
14: 65,628,742 (GRCm39) |
R198L |
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 |
|
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 |
|
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 |
2017-04-14 |
Incidental Mutation