Incidental Mutation 'R9133:Ksr2'
ID |
693764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ksr2
|
Ensembl Gene |
ENSMUSG00000061578 |
Gene Name |
kinase suppressor of ras 2 |
Synonyms |
|
MMRRC Submission |
068930-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R9133 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
117552067-117906061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117841319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 598
(T598A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180430]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000180430
AA Change: T598A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000137670 Gene: ENSMUSG00000061578 AA Change: T598A
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat3 |
T |
A |
17: 13,159,176 (GRCm39) |
R4S |
probably benign |
Het |
Adamdec1 |
A |
T |
14: 68,814,547 (GRCm39) |
C143* |
probably null |
Het |
Adck5 |
A |
G |
15: 76,460,612 (GRCm39) |
|
probably benign |
Het |
Aebp2 |
A |
G |
6: 140,579,441 (GRCm39) |
D226G |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,630,175 (GRCm39) |
I1755V |
possibly damaging |
Het |
Aspm |
C |
T |
1: 139,419,266 (GRCm39) |
T2977M |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,276,152 (GRCm39) |
S582G |
probably damaging |
Het |
Card14 |
T |
C |
11: 119,231,835 (GRCm39) |
F801S |
probably damaging |
Het |
Casp16 |
T |
A |
17: 23,771,003 (GRCm39) |
D134V |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,234,108 (GRCm39) |
S327P |
possibly damaging |
Het |
Cutc |
A |
T |
19: 43,755,727 (GRCm39) |
D229V |
possibly damaging |
Het |
Cyp21a1 |
C |
A |
17: 35,023,419 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,859,423 (GRCm39) |
K2130R |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,234,904 (GRCm39) |
S250N |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,611,778 (GRCm39) |
|
probably null |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Ehmt1 |
A |
T |
2: 24,729,635 (GRCm39) |
I642K |
possibly damaging |
Het |
Gjd2 |
T |
C |
2: 113,842,039 (GRCm39) |
Q146R |
probably benign |
Het |
Gm26661 |
A |
G |
14: 7,791,936 (GRCm38) |
H117R |
unknown |
Het |
H2-Oa |
T |
A |
17: 34,313,505 (GRCm39) |
D185E |
probably damaging |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Hyal6 |
A |
G |
6: 24,734,585 (GRCm39) |
R173G |
possibly damaging |
Het |
Ica1 |
A |
T |
6: 8,659,921 (GRCm39) |
V125D |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,442,867 (GRCm39) |
T140A |
probably benign |
Het |
Ighv9-4 |
T |
A |
12: 114,263,883 (GRCm39) |
I17F |
probably benign |
Het |
Igkv4-92 |
G |
T |
6: 68,732,248 (GRCm39) |
T42N |
probably damaging |
Het |
Kctd16 |
C |
A |
18: 40,392,069 (GRCm39) |
P219Q |
probably damaging |
Het |
Kdm5b |
A |
T |
1: 134,530,323 (GRCm39) |
I445F |
probably benign |
Het |
Lrrn1 |
C |
T |
6: 107,544,568 (GRCm39) |
T122I |
probably damaging |
Het |
Mars2 |
A |
G |
1: 55,276,721 (GRCm39) |
D108G |
possibly damaging |
Het |
Ms4a14 |
A |
G |
19: 11,281,038 (GRCm39) |
W507R |
|
Het |
Ncoa3 |
A |
G |
2: 165,910,381 (GRCm39) |
T1266A |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,083,256 (GRCm39) |
K5650E |
possibly damaging |
Het |
Nlrp4f |
T |
A |
13: 65,332,883 (GRCm39) |
K92* |
probably null |
Het |
Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
Nova1 |
G |
T |
12: 46,865,524 (GRCm39) |
A4E |
unknown |
Het |
Nphs1 |
G |
T |
7: 30,160,092 (GRCm39) |
E124* |
probably null |
Het |
Or10d4 |
T |
A |
9: 39,580,974 (GRCm39) |
I207N |
possibly damaging |
Het |
Or10d4b |
T |
A |
9: 39,534,809 (GRCm39) |
L128* |
probably null |
Het |
Or5d14 |
T |
C |
2: 87,880,782 (GRCm39) |
Y62C |
probably damaging |
Het |
Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,313,050 (GRCm39) |
S1257P |
probably damaging |
Het |
Ranbp3 |
T |
C |
17: 57,003,791 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
A |
G |
9: 89,793,600 (GRCm39) |
T126A |
probably benign |
Het |
Rexo5 |
T |
G |
7: 119,444,667 (GRCm39) |
L714R |
probably damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,020,512 (GRCm39) |
Y597H |
probably damaging |
Het |
Riox1 |
C |
G |
12: 83,998,221 (GRCm39) |
Y252* |
probably null |
Het |
Sh2d3c |
T |
C |
2: 32,634,778 (GRCm39) |
Y186H |
possibly damaging |
Het |
Slc16a7 |
T |
A |
10: 125,066,536 (GRCm39) |
T368S |
probably benign |
Het |
Slc25a26 |
G |
A |
6: 94,511,143 (GRCm39) |
V107I |
|
Het |
Slc4a5 |
A |
T |
6: 83,203,217 (GRCm39) |
Y39F |
possibly damaging |
Het |
Smarcad1 |
A |
G |
6: 65,049,035 (GRCm39) |
K254E |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,434,747 (GRCm39) |
V1080L |
possibly damaging |
Het |
Thsd7b |
A |
T |
1: 129,843,382 (GRCm39) |
T865S |
probably benign |
Het |
Top1 |
C |
T |
2: 160,545,591 (GRCm39) |
Q320* |
probably null |
Het |
Trank1 |
T |
A |
9: 111,220,770 (GRCm39) |
N2502K |
possibly damaging |
Het |
Urad |
T |
C |
5: 147,252,251 (GRCm39) |
H67R |
probably damaging |
Het |
Vamp5 |
A |
C |
6: 72,357,362 (GRCm39) |
|
probably null |
Het |
Vmn1r62 |
A |
G |
7: 5,679,062 (GRCm39) |
I248V |
probably benign |
Het |
Wwc2 |
G |
T |
8: 48,305,007 (GRCm39) |
Q873K |
unknown |
Het |
Zcchc2 |
C |
A |
1: 105,958,535 (GRCm39) |
S1002Y |
probably damaging |
Het |
Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
Zfp788 |
A |
G |
7: 41,299,484 (GRCm39) |
N707D |
|
Het |
Zfp964 |
A |
G |
8: 70,115,783 (GRCm39) |
T128A |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,957,722 (GRCm39) |
L668S |
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 |
|
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 |
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'- TGTTGGCCAATATTGAAACCC -3'
(R):5'- ACGCTACCATTGCCACAGAG -3'
Sequencing Primer
(F):5'- TATTGAAACCCACGTCAATAGGG -3'
(R):5'- GGGCTAACACTGCTTCCTG -3'
|
Posted On |
2022-01-20 |