Incidental Mutation 'IGL01592:Limk2'
ID |
91624 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Limk2
|
Ensembl Gene |
ENSMUSG00000020451 |
Gene Name |
LIM domain kinase 2 |
Synonyms |
whe, Limk2b, Limk2a, A930024P04Rik, LIM kinase 2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
IGL01592
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
3294256-3359189 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3309052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 102
(K102R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101638]
[ENSMUST00000101640]
[ENSMUST00000101642]
[ENSMUST00000110029]
|
AlphaFold |
O54785 |
PDB Structure |
Solution structure of the PDZ domain from mouse LIM domain kinase [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101638
AA Change: K102R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000099162 Gene: ENSMUSG00000020451 AA Change: K102R
Domain | Start | End | E-Value | Type |
LIM
|
11 |
63 |
2e-14 |
SMART |
LIM
|
71 |
124 |
4.63e-10 |
SMART |
PDZ
|
161 |
239 |
7.04e-10 |
SMART |
low complexity region
|
241 |
255 |
N/A |
INTRINSIC |
low complexity region
|
280 |
306 |
N/A |
INTRINSIC |
low complexity region
|
310 |
322 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
331 |
600 |
5.3e-48 |
PFAM |
Pfam:Pkinase_Tyr
|
331 |
601 |
4.7e-50 |
PFAM |
Pfam:Kdo
|
341 |
497 |
8.6e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101640
AA Change: K81R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099163 Gene: ENSMUSG00000020451 AA Change: K81R
Domain | Start | End | E-Value | Type |
LIM
|
7 |
42 |
4.91e-1 |
SMART |
LIM
|
50 |
103 |
4.63e-10 |
SMART |
PDZ
|
140 |
218 |
7.04e-10 |
SMART |
low complexity region
|
220 |
234 |
N/A |
INTRINSIC |
low complexity region
|
259 |
285 |
N/A |
INTRINSIC |
low complexity region
|
289 |
301 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
310 |
582 |
1.2e-45 |
PFAM |
Pfam:Pkinase_Tyr
|
310 |
586 |
1.3e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101642
AA Change: K81R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099165 Gene: ENSMUSG00000020451 AA Change: K81R
Domain | Start | End | E-Value | Type |
LIM
|
7 |
42 |
4.91e-1 |
SMART |
LIM
|
50 |
103 |
4.63e-10 |
SMART |
PDZ
|
140 |
218 |
7.04e-10 |
SMART |
low complexity region
|
220 |
234 |
N/A |
INTRINSIC |
low complexity region
|
259 |
285 |
N/A |
INTRINSIC |
low complexity region
|
289 |
301 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
310 |
579 |
4.9e-48 |
PFAM |
Pfam:Pkinase_Tyr
|
310 |
580 |
4.3e-50 |
PFAM |
Pfam:Kdo
|
320 |
476 |
8.2e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110029
|
SMART Domains |
Protein: ENSMUSP00000105656 Gene: ENSMUSG00000020451
Domain | Start | End | E-Value | Type |
PDZ
|
1 |
52 |
4.55e-1 |
SMART |
low complexity region
|
54 |
68 |
N/A |
INTRINSIC |
low complexity region
|
93 |
119 |
N/A |
INTRINSIC |
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
144 |
411 |
2.7e-49 |
PFAM |
Pfam:Pkinase_Tyr
|
144 |
414 |
1.7e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125832
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148091
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147344
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132479
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Male homozygotes for targeted null mutations exhibit small testes but are fertile. Mutant kidneys have fewer glomeruli and dilated renal tubules, but function normally. Mice homozygous for a gene trap allele or spontaneous mutation have open eyelids at birth, corneal abnormalities and inflammation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
A |
G |
12: 53,188,925 (GRCm39) |
D2113G |
probably damaging |
Het |
Atf6b |
T |
A |
17: 34,868,111 (GRCm39) |
V125E |
probably damaging |
Het |
Cdan1 |
T |
A |
2: 120,556,466 (GRCm39) |
Y653F |
probably damaging |
Het |
Ces1d |
A |
G |
8: 93,921,717 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
G |
T |
11: 69,321,913 (GRCm39) |
N3802K |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,236,783 (GRCm39) |
I370V |
probably benign |
Het |
Dpp10 |
T |
C |
1: 123,262,099 (GRCm39) |
E761G |
probably damaging |
Het |
Dusp19 |
A |
G |
2: 80,447,825 (GRCm39) |
E33G |
probably damaging |
Het |
E2f7 |
T |
A |
10: 110,582,267 (GRCm39) |
D25E |
possibly damaging |
Het |
E2f8 |
T |
C |
7: 48,517,605 (GRCm39) |
T733A |
probably damaging |
Het |
Golga1 |
T |
C |
2: 38,953,294 (GRCm39) |
E32G |
probably damaging |
Het |
Grip1 |
T |
A |
10: 119,765,908 (GRCm39) |
V80E |
probably damaging |
Het |
Igsf6 |
T |
C |
7: 120,670,016 (GRCm39) |
Y42C |
probably damaging |
Het |
Katna1 |
T |
G |
10: 7,617,218 (GRCm39) |
M70R |
probably damaging |
Het |
Lypla1 |
T |
A |
1: 4,898,874 (GRCm39) |
|
probably null |
Het |
Or2z9 |
T |
A |
8: 72,854,356 (GRCm39) |
F251I |
probably damaging |
Het |
Or6c69b |
A |
G |
10: 129,627,188 (GRCm39) |
I90T |
probably damaging |
Het |
Pgap1 |
G |
A |
1: 54,560,470 (GRCm39) |
P444L |
probably damaging |
Het |
Pigr |
G |
A |
1: 130,776,795 (GRCm39) |
V657M |
probably damaging |
Het |
Plscr1 |
T |
A |
9: 92,148,803 (GRCm39) |
Y214* |
probably null |
Het |
Polq |
A |
C |
16: 36,855,212 (GRCm39) |
I436L |
probably benign |
Het |
Ppfia2 |
T |
A |
10: 106,671,909 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,381 (GRCm39) |
S84P |
probably damaging |
Het |
Slc30a6 |
T |
A |
17: 74,726,523 (GRCm39) |
|
probably benign |
Het |
Trim38 |
A |
G |
13: 23,975,410 (GRCm39) |
T450A |
possibly damaging |
Het |
Ubqlnl |
A |
T |
7: 103,799,496 (GRCm39) |
|
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,764,445 (GRCm39) |
K441E |
probably benign |
Het |
Wnt8a |
A |
G |
18: 34,677,846 (GRCm39) |
T85A |
probably damaging |
Het |
|
Other mutations in Limk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01105:Limk2
|
APN |
11 |
3,305,475 (GRCm39) |
splice site |
probably benign |
|
IGL01716:Limk2
|
APN |
11 |
3,308,990 (GRCm39) |
splice site |
probably null |
|
IGL01911:Limk2
|
APN |
11 |
3,305,340 (GRCm39) |
missense |
probably benign |
|
R0900:Limk2
|
UTSW |
11 |
3,300,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1587:Limk2
|
UTSW |
11 |
3,303,455 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1632:Limk2
|
UTSW |
11 |
3,296,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1695:Limk2
|
UTSW |
11 |
3,303,275 (GRCm39) |
critical splice donor site |
probably null |
|
R1712:Limk2
|
UTSW |
11 |
3,308,104 (GRCm39) |
splice site |
probably null |
|
R1792:Limk2
|
UTSW |
11 |
3,308,236 (GRCm39) |
missense |
probably benign |
|
R1982:Limk2
|
UTSW |
11 |
3,305,461 (GRCm39) |
missense |
probably benign |
0.00 |
R3009:Limk2
|
UTSW |
11 |
3,309,046 (GRCm39) |
missense |
probably benign |
0.01 |
R4565:Limk2
|
UTSW |
11 |
3,298,634 (GRCm39) |
missense |
probably damaging |
0.98 |
R4703:Limk2
|
UTSW |
11 |
3,297,586 (GRCm39) |
nonsense |
probably null |
|
R4978:Limk2
|
UTSW |
11 |
3,359,069 (GRCm39) |
utr 5 prime |
probably benign |
|
R5160:Limk2
|
UTSW |
11 |
3,300,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R5460:Limk2
|
UTSW |
11 |
3,302,332 (GRCm39) |
missense |
probably benign |
0.30 |
R6497:Limk2
|
UTSW |
11 |
3,310,492 (GRCm39) |
missense |
probably benign |
0.00 |
R6543:Limk2
|
UTSW |
11 |
3,300,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R6666:Limk2
|
UTSW |
11 |
3,310,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R7054:Limk2
|
UTSW |
11 |
3,305,448 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7330:Limk2
|
UTSW |
11 |
3,296,311 (GRCm39) |
missense |
probably benign |
0.39 |
R7681:Limk2
|
UTSW |
11 |
3,303,354 (GRCm39) |
missense |
probably damaging |
0.96 |
R7722:Limk2
|
UTSW |
11 |
3,306,092 (GRCm39) |
splice site |
probably null |
|
R7745:Limk2
|
UTSW |
11 |
3,305,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R8120:Limk2
|
UTSW |
11 |
3,298,589 (GRCm39) |
splice site |
probably null |
|
R8193:Limk2
|
UTSW |
11 |
3,297,691 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8379:Limk2
|
UTSW |
11 |
3,321,162 (GRCm39) |
start gained |
probably benign |
|
R8557:Limk2
|
UTSW |
11 |
3,296,379 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8708:Limk2
|
UTSW |
11 |
3,300,763 (GRCm39) |
missense |
probably benign |
0.19 |
R9617:Limk2
|
UTSW |
11 |
3,297,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-12-09 |