Incidental Mutation 'R6874:Ksr2'
| ID |
536301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr2
|
| Ensembl Gene |
ENSMUSG00000061578 |
| Gene Name |
kinase suppressor of ras 2 |
| Synonyms |
|
| MMRRC Submission |
045029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6874 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 117894401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 847
(E847*)
|
| 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
AA Change: E847*
|
| SMART Domains |
Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: E847*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,851,428 (GRCm39) |
D802G |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,280,295 (GRCm39) |
T523A |
probably damaging |
Het |
| Adamts7 |
A |
T |
9: 90,070,784 (GRCm39) |
D635V |
probably damaging |
Het |
| Akr1c12 |
C |
A |
13: 4,322,959 (GRCm39) |
G217C |
probably benign |
Het |
| Astn1 |
C |
A |
1: 158,491,644 (GRCm39) |
S1007* |
probably null |
Het |
| Cntln |
T |
C |
4: 84,985,996 (GRCm39) |
L988P |
probably damaging |
Het |
| Dcps |
A |
T |
9: 35,087,263 (GRCm39) |
M1K |
probably null |
Het |
| Dnai1 |
T |
A |
4: 41,632,412 (GRCm39) |
L582Q |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,328,732 (GRCm39) |
Q7118L |
probably benign |
Het |
| Ehd2 |
T |
A |
7: 15,684,363 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxl7 |
T |
C |
15: 26,553,028 (GRCm39) |
I80V |
probably benign |
Het |
| Fry |
T |
C |
5: 150,360,768 (GRCm39) |
V125A |
probably benign |
Het |
| Gm12695 |
A |
T |
4: 96,673,306 (GRCm39) |
I31K |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,219,715 (GRCm39) |
E386G |
probably damaging |
Het |
| Helz |
G |
T |
11: 107,554,460 (GRCm39) |
R1219S |
probably damaging |
Het |
| Hes3 |
G |
T |
4: 152,371,695 (GRCm39) |
P85T |
possibly damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,822 (GRCm39) |
R44* |
probably null |
Het |
| Igsf9 |
A |
G |
1: 172,322,096 (GRCm39) |
T496A |
probably benign |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,142 (GRCm39) |
A261S |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,181,407 (GRCm39) |
P586S |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,031 (GRCm39) |
H175R |
probably benign |
Het |
| Lats1 |
T |
A |
10: 7,586,615 (GRCm39) |
Y926N |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,497,904 (GRCm39) |
L33H |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,705,670 (GRCm39) |
S287P |
possibly damaging |
Het |
| Map3k6 |
G |
A |
4: 132,977,967 (GRCm39) |
E976K |
probably benign |
Het |
| Mfsd6 |
T |
A |
1: 52,699,868 (GRCm39) |
D760V |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,570,065 (GRCm39) |
S818* |
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,013,921 (GRCm39) |
T306A |
probably benign |
Het |
| Nisch |
G |
T |
14: 30,898,641 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,298,964 (GRCm39) |
V1028A |
probably damaging |
Het |
| Nucb1 |
T |
C |
7: 45,152,618 (GRCm39) |
N75S |
probably benign |
Het |
| Or11a4 |
T |
C |
17: 37,536,238 (GRCm39) |
V74A |
probably benign |
Het |
| Or1e1d-ps1 |
T |
G |
11: 73,819,068 (GRCm39) |
M6R |
probably null |
Het |
| Or51a43 |
T |
A |
7: 103,717,396 (GRCm39) |
I281F |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,312 (GRCm39) |
Y178F |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,777 (GRCm39) |
Y278N |
possibly damaging |
Het |
| Or8b57 |
A |
G |
9: 40,004,022 (GRCm39) |
V80A |
probably benign |
Het |
| Or8k24 |
C |
T |
2: 86,215,872 (GRCm39) |
V297I |
possibly damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,993,540 (GRCm39) |
L409S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,452,923 (GRCm39) |
D3949E |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,100,592 (GRCm39) |
P2032Q |
probably damaging |
Het |
| Ptms |
T |
C |
6: 124,891,194 (GRCm39) |
|
probably benign |
Het |
| Ptp4a3 |
A |
G |
15: 73,595,259 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,554,460 (GRCm39) |
I88M |
possibly damaging |
Het |
| Radil |
T |
A |
5: 142,492,557 (GRCm39) |
D357V |
probably damaging |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,635,175 (GRCm39) |
|
probably null |
Het |
| Thoc5 |
T |
C |
11: 4,851,261 (GRCm39) |
I69T |
probably damaging |
Het |
| Trib2 |
G |
C |
12: 15,865,338 (GRCm39) |
S79W |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,680,439 (GRCm39) |
D889G |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,040,103 (GRCm39) |
S1528P |
probably benign |
Het |
| Vax1 |
A |
T |
19: 59,156,955 (GRCm39) |
V126E |
unknown |
Het |
| Vgf |
A |
G |
5: 137,060,386 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,376 (GRCm39) |
C746S |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,451,286 (GRCm39) |
T391A |
probably benign |
Het |
| Zfp738 |
C |
A |
13: 67,818,382 (GRCm39) |
E536D |
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 |
|
R6460:Ksr2
|
UTSW |
5 |
117,894,449 (GRCm39) |
critical splice donor site |
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'- TCAAGAAATGCCCTTGGAGG -3'
(R):5'- GACTCCAGACAGGCAAATGTG -3'
Sequencing Primer
(F):5'- CCTTGGAGGAAGGTAGGAAACCC -3'
(R):5'- CTCCAGACAGGCAAATGTGTTACAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation