Incidental Mutation 'R6497:Limk2'
| ID |
523074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Limk2
|
| Ensembl Gene |
ENSMUSG00000020451 |
| Gene Name |
LIM domain kinase 2 |
| Synonyms |
whe, Limk2b, Limk2a, A930024P04Rik, LIM kinase 2 |
| MMRRC Submission |
044629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R6497 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3294256-3359189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3310492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 71
(F71L)
|
| 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: F71L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099162
Gene: ENSMUSG00000020451
AA Change: F71L
| 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: F50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099163
Gene: ENSMUSG00000020451
AA Change: F50L
| 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: F50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099165
Gene: ENSMUSG00000020451
AA Change: F50L
| 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: ENSMUST00000132479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134576
|
| Meta Mutation Damage Score |
0.0588 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
98% (42/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
| Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
| Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
| Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
| Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
| Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
| Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
| Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
| Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
| Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
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 |
|
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTCACAGATAGTCCTCTG -3'
(R):5'- TTAAACTGGGAGCCAAGCAC -3'
Sequencing Primer
(F):5'- CTAGACCTGTCTTTAGTAAGGGCTC -3'
(R):5'- AGCCAAGCACCCCTGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation