Incidental Mutation 'R6460:Ksr2'
| ID |
517558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr2
|
| Ensembl Gene |
ENSMUSG00000061578 |
| Gene Name |
kinase suppressor of ras 2 |
| Synonyms |
|
| MMRRC Submission |
044595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6460 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 117894449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180430]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000180430
|
| SMART Domains |
Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
T |
10: 79,844,862 (GRCm39) |
H1528L |
probably benign |
Het |
| Ablim1 |
A |
G |
19: 57,068,271 (GRCm39) |
S263P |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,750,610 (GRCm39) |
E104G |
probably null |
Het |
| Apof |
T |
A |
10: 128,105,086 (GRCm39) |
M80K |
probably damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,283,285 (GRCm39) |
R208H |
probably damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,657,018 (GRCm39) |
|
probably null |
Het |
| Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
| Cabcoco1 |
T |
C |
10: 68,352,211 (GRCm39) |
K34E |
probably damaging |
Het |
| Col4a4 |
C |
A |
1: 82,444,253 (GRCm39) |
G1338V |
unknown |
Het |
| Coq9 |
T |
A |
8: 95,579,814 (GRCm39) |
D256E |
probably damaging |
Het |
| Dnajc18 |
A |
T |
18: 35,833,963 (GRCm39) |
C41S |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,472,795 (GRCm39) |
I307M |
probably damaging |
Het |
| Emg1 |
A |
G |
6: 124,688,870 (GRCm39) |
V46A |
probably damaging |
Het |
| Eya3 |
A |
G |
4: 132,408,174 (GRCm39) |
S157G |
probably damaging |
Het |
| Eya4 |
T |
C |
10: 23,027,910 (GRCm39) |
N274S |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,878,296 (GRCm39) |
V3395A |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,092,897 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
A |
G |
1: 166,325,082 (GRCm39) |
V3A |
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,907,992 (GRCm39) |
|
probably null |
Het |
| Herc3 |
T |
A |
6: 58,867,108 (GRCm39) |
I10N |
probably damaging |
Het |
| Hhatl |
C |
T |
9: 121,618,588 (GRCm39) |
R138H |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,085,765 (GRCm39) |
H35Q |
probably benign |
Het |
| Irgq |
T |
A |
7: 24,233,115 (GRCm39) |
S319T |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,036,559 (GRCm39) |
I865V |
probably damaging |
Het |
| Map2k1 |
A |
G |
9: 64,094,577 (GRCm39) |
L355P |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,551,812 (GRCm39) |
I4827T |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,112,202 (GRCm39) |
V1752A |
probably benign |
Het |
| Nfatc2ip |
A |
G |
7: 125,986,909 (GRCm39) |
V282A |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,308,561 (GRCm39) |
E485V |
probably damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,441,455 (GRCm39) |
D2G |
probably damaging |
Het |
| Or10d3 |
CAGAG |
CAG |
9: 39,462,088 (GRCm39) |
|
probably null |
Het |
| Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,420,537 (GRCm39) |
K295E |
unknown |
Het |
| Rb1 |
A |
C |
14: 73,515,894 (GRCm39) |
I294R |
probably benign |
Het |
| Schip1 |
C |
A |
3: 68,402,227 (GRCm39) |
S101R |
probably benign |
Het |
| Sec24c |
T |
A |
14: 20,740,868 (GRCm39) |
Y629N |
probably damaging |
Het |
| Shkbp1 |
T |
A |
7: 27,049,963 (GRCm39) |
H305L |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,959,801 (GRCm39) |
I187T |
probably damaging |
Het |
| Srp72 |
C |
A |
5: 77,135,838 (GRCm39) |
T256K |
probably damaging |
Het |
| Stk32c |
T |
A |
7: 138,685,190 (GRCm39) |
N320I |
probably damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,497,811 (GRCm39) |
S163T |
probably benign |
Het |
| Sycp1 |
T |
G |
3: 102,832,569 (GRCm39) |
Y199S |
probably damaging |
Het |
| Tpk1 |
T |
C |
6: 43,445,961 (GRCm39) |
D159G |
probably benign |
Het |
| Trav21-dv12 |
C |
T |
14: 54,114,191 (GRCm39) |
H104Y |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,788,302 (GRCm39) |
Y48N |
probably damaging |
Het |
| Trmt10b |
A |
G |
4: 45,314,322 (GRCm39) |
T255A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,747,232 (GRCm39) |
Q4606* |
probably null |
Het |
| Vcan |
T |
A |
13: 89,838,806 (GRCm39) |
K2246M |
possibly damaging |
Het |
| Zfp438 |
C |
A |
18: 5,213,603 (GRCm39) |
G452C |
probably damaging |
Het |
| Zfp54 |
T |
A |
17: 21,654,004 (GRCm39) |
I166N |
probably benign |
Het |
| Zfp735 |
T |
C |
11: 73,602,478 (GRCm39) |
V474A |
probably benign |
Het |
| Zfp831 |
G |
T |
2: 174,488,360 (GRCm39) |
G1012W |
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 |
|
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 |
|
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'- AAACCCCGACCAAGGTGTTTC -3'
(R):5'- TGCCATTGCTGGAAAATTGG -3'
Sequencing Primer
(F):5'- GGACTTGCGATCAGTGCTAC -3'
(R):5'- TTGGTTAGACTCCAGACAGGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation