Incidental Mutation 'IGL01911:Limk2'
| ID |
179799 |
| 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: 0.157)
|
| Stock # |
IGL01911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
3294256-3359189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 3305340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 76
(T76P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101638]
[ENSMUST00000101640]
[ENSMUST00000101642]
[ENSMUST00000110029]
|
| AlphaFold |
O54785 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101638
AA Change: T263P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099162
Gene: ENSMUSG00000020451
AA Change: T263P
| 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: T242P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099163
Gene: ENSMUSG00000020451
AA Change: T242P
| 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: T242P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099165
Gene: ENSMUSG00000020451
AA Change: T242P
| 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
AA Change: T76P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105656
Gene: ENSMUSG00000020451
AA Change: T76P
| 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: ENSMUST00000132479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148091
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
T |
C |
1: 58,191,719 (GRCm39) |
F424L |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,671,077 (GRCm39) |
T301A |
probably damaging |
Het |
| Atp9a |
C |
A |
2: 168,495,481 (GRCm39) |
R575L |
probably damaging |
Het |
| Brca2 |
G |
A |
5: 150,491,078 (GRCm39) |
D3088N |
probably damaging |
Het |
| Brd3 |
G |
A |
2: 27,349,812 (GRCm39) |
T247I |
probably damaging |
Het |
| Btbd8 |
A |
G |
5: 107,656,446 (GRCm39) |
H903R |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,275,933 (GRCm39) |
N1908S |
probably benign |
Het |
| Ccdc40 |
A |
T |
11: 119,122,797 (GRCm39) |
|
probably null |
Het |
| Cdyl |
T |
C |
13: 36,047,226 (GRCm39) |
V389A |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,963 (GRCm39) |
F814S |
probably damaging |
Het |
| Cstf3 |
T |
C |
2: 104,476,976 (GRCm39) |
F149S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,804,784 (GRCm39) |
Y122H |
probably damaging |
Het |
| Dram1 |
T |
C |
10: 88,161,203 (GRCm39) |
D222G |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,512,802 (GRCm39) |
R96H |
probably damaging |
Het |
| Gm11563 |
T |
A |
11: 99,549,527 (GRCm39) |
R76* |
probably null |
Het |
| Gm17093 |
A |
C |
14: 44,758,277 (GRCm39) |
|
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpi1 |
A |
T |
7: 33,920,347 (GRCm39) |
V136D |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,059,410 (GRCm39) |
T204M |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,006,963 (GRCm39) |
I403T |
probably damaging |
Het |
| Krt75 |
A |
T |
15: 101,476,537 (GRCm39) |
D409E |
probably damaging |
Het |
| Mtus2 |
A |
T |
5: 148,015,030 (GRCm39) |
M608L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,899,421 (GRCm39) |
E979* |
probably null |
Het |
| Or52ab7 |
T |
G |
7: 102,978,480 (GRCm39) |
F262L |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,796,831 (GRCm39) |
A166V |
probably damaging |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,854 (GRCm39) |
E309G |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,905,458 (GRCm39) |
Y199* |
probably null |
Het |
| Setd2 |
C |
A |
9: 110,446,499 (GRCm39) |
|
probably null |
Het |
| Slc66a1 |
A |
G |
4: 139,028,384 (GRCm39) |
V186A |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,222,277 (GRCm39) |
I648F |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,980 (GRCm39) |
R577W |
probably benign |
Het |
| Znhit6 |
A |
G |
3: 145,283,853 (GRCm39) |
|
probably benign |
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 |
|
|
IGL01592:Limk2
|
APN |
11 |
3,309,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01716:Limk2
|
APN |
11 |
3,308,990 (GRCm39) |
splice site |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation