Incidental Mutation 'R5016:Ksr2'
ID |
385570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ksr2
|
Ensembl Gene |
ENSMUSG00000061578 |
Gene Name |
kinase suppressor of ras 2 |
Synonyms |
|
MMRRC Submission |
042607-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R5016 (G1)
|
Quality Score |
158 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117638857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 87
(D87G)
|
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
AA Change: D87G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137670 Gene: ENSMUSG00000061578 AA Change: D87G
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 |
0.0817 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
Validation Efficiency |
97% (56/58) |
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 |
Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
probably benign |
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 |
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'- TTACGATACAGAGTTGGCTGCG -3'
(R):5'- AGAGATCCTGTGAGCTTTGATCC -3'
Sequencing Primer
(F):5'- CGGTTAGCAGGCGATATCAG -3'
(R):5'- ACTGAAGACCTACTGTGTGC -3'
|
Posted On |
2016-05-10 |