Incidental Mutation 'R7745:Limk2'
| ID |
596806 |
| 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 |
045801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R7745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3294256-3359189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3305896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 191
(S191N)
|
| 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 damaging
Transcript: ENSMUST00000101638
AA Change: S191N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099162
Gene: ENSMUSG00000020451
AA Change: S191N
| 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 damaging
Transcript: ENSMUST00000101640
AA Change: S170N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099163
Gene: ENSMUSG00000020451
AA Change: S170N
| 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 damaging
Transcript: ENSMUST00000101642
AA Change: S170N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099165
Gene: ENSMUSG00000020451
AA Change: S170N
| 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 damaging
Transcript: ENSMUST00000110029
AA Change: S4N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105656
Gene: ENSMUSG00000020451
AA Change: S4N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (55/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
C |
3: 59,945,893 (GRCm39) |
S188R |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,768,289 (GRCm39) |
I220N |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,931,440 (GRCm39) |
N16S |
probably damaging |
Het |
| Adck1 |
A |
T |
12: 88,423,570 (GRCm39) |
M358L |
probably benign |
Het |
| Adck5 |
A |
T |
15: 76,478,748 (GRCm39) |
Q345L |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,094 (GRCm39) |
F876S |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,569,584 (GRCm39) |
L55Q |
unknown |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,215,676 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,279,866 (GRCm39) |
D494G |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 85,286,023 (GRCm39) |
H889Q |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 119,029,587 (GRCm39) |
D151G |
|
Het |
| Car8 |
A |
G |
4: 8,237,939 (GRCm39) |
V92A |
possibly damaging |
Het |
| Ccdc8 |
G |
T |
7: 16,729,614 (GRCm39) |
A368S |
unknown |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,370,013 (GRCm39) |
I877V |
probably benign |
Het |
| Copa |
A |
T |
1: 171,939,509 (GRCm39) |
D582V |
probably damaging |
Het |
| Cpne2 |
T |
G |
8: 95,295,312 (GRCm39) |
S466A |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,816,156 (GRCm39) |
K1311R |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 15,982,461 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,342,144 (GRCm39) |
C2947* |
probably null |
Het |
| Exoc1 |
A |
T |
5: 76,709,359 (GRCm39) |
K656* |
probably null |
Het |
| Exoc8 |
T |
C |
8: 125,622,558 (GRCm39) |
N603S |
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,226,483 (GRCm39) |
C539S |
possibly damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,456,988 (GRCm39) |
I534K |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,145,115 (GRCm39) |
D2708G |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,618,250 (GRCm39) |
L1392P |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,874,754 (GRCm39) |
T2306S |
probably benign |
Het |
| Gdf7 |
G |
T |
12: 8,351,854 (GRCm39) |
A27E |
unknown |
Het |
| Hnrnph1 |
A |
T |
11: 50,270,324 (GRCm39) |
I43F |
probably damaging |
Het |
| Igkv8-27 |
T |
A |
6: 70,148,999 (GRCm39) |
S52C |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,052,824 (GRCm39) |
F24L |
probably damaging |
Het |
| Knl1 |
T |
G |
2: 118,902,037 (GRCm39) |
L1246R |
probably benign |
Het |
| Mdga2 |
C |
A |
12: 66,736,125 (GRCm39) |
A368S |
possibly damaging |
Het |
| Mdga2 |
G |
A |
12: 66,736,124 (GRCm39) |
A368V |
probably damaging |
Het |
| Med24 |
A |
T |
11: 98,595,793 (GRCm39) |
L966Q |
probably damaging |
Het |
| Mgll |
T |
C |
6: 88,702,770 (GRCm39) |
V23A |
possibly damaging |
Het |
| Nedd1 |
C |
T |
10: 92,550,034 (GRCm39) |
D84N |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,951,681 (GRCm39) |
L4024R |
probably damaging |
Het |
| Or5k1b |
A |
T |
16: 58,580,782 (GRCm39) |
Y252* |
probably null |
Het |
| Pcnx2 |
T |
C |
8: 126,577,846 (GRCm39) |
I944V |
probably benign |
Het |
| Pecr |
T |
C |
1: 72,306,157 (GRCm39) |
|
probably null |
Het |
| Phf3 |
A |
T |
1: 30,843,305 (GRCm39) |
W1885R |
probably damaging |
Het |
| Pitpnm2 |
C |
G |
5: 124,266,768 (GRCm39) |
A697P |
probably benign |
Het |
| Piwil2 |
T |
A |
14: 70,631,638 (GRCm39) |
H602L |
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,053,781 (GRCm39) |
S1104P |
unknown |
Het |
| Prkar1a |
T |
A |
11: 109,544,673 (GRCm39) |
Y21* |
probably null |
Het |
| Prl2c3 |
A |
T |
13: 12,813,186 (GRCm39) |
Y9* |
probably null |
Het |
| Rhbdl3 |
T |
A |
11: 80,214,405 (GRCm39) |
L172Q |
possibly damaging |
Het |
| Rsph3a |
T |
G |
17: 8,198,075 (GRCm39) |
L484W |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,962 (GRCm39) |
S809T |
probably benign |
Het |
| Stmnd1 |
T |
A |
13: 46,453,077 (GRCm39) |
V251E |
possibly damaging |
Het |
| Stt3a |
A |
T |
9: 36,662,535 (GRCm39) |
C241* |
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,401 (GRCm39) |
M209K |
probably damaging |
Het |
| Tchh |
G |
T |
3: 93,352,084 (GRCm39) |
R508L |
unknown |
Het |
| Tgfbr3l |
T |
C |
8: 4,300,622 (GRCm39) |
S267P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,144 (GRCm39) |
I19590F |
probably damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,035 (GRCm39) |
T87A |
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 |
|
|
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 |
|
|
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'- ACAGGCTCAGTGCTAAGATTGG -3'
(R):5'- GTAGATCAGTGACAGTGCCC -3'
Sequencing Primer
(F):5'- TTGGCTGGTTATGGGAAAAACG -3'
(R):5'- CTTCCCTGAGAGGAAGCATTCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation