Incidental Mutation 'R8557:Limk2'
| ID |
660168 |
| 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 |
068520-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R8557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3294256-3359189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3296379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 356
(V356A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045153]
[ENSMUST00000101638]
[ENSMUST00000101640]
[ENSMUST00000101642]
[ENSMUST00000110029]
[ENSMUST00000136474]
[ENSMUST00000136536]
|
| AlphaFold |
O54785 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045153
|
| SMART Domains |
Protein: ENSMUSP00000036921
Gene: ENSMUSG00000034614
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
KR
|
23 |
103 |
3.64e-17 |
SMART |
|
transmembrane domain
|
170 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101638
AA Change: V543A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099162
Gene: ENSMUSG00000020451
AA Change: V543A
| 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 |
possibly damaging
Transcript: ENSMUST00000101640
AA Change: V528A
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099163
Gene: ENSMUSG00000020451
AA Change: V528A
| 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 |
possibly damaging
Transcript: ENSMUST00000101642
AA Change: V522A
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099165
Gene: ENSMUSG00000020451
AA Change: V522A
| 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 |
possibly damaging
Transcript: ENSMUST00000110029
AA Change: V356A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105656
Gene: ENSMUSG00000020451
AA Change: V356A
| 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 |
probably benign
Transcript: ENSMUST00000136474
|
| SMART Domains |
Protein: ENSMUSP00000119106
Gene: ENSMUSG00000034614
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136536
|
| SMART Domains |
Protein: ENSMUSP00000122407
Gene: ENSMUSG00000034614
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
KR
|
23 |
103 |
1.1e-16 |
SMART |
|
transmembrane domain
|
177 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138907
|
| SMART Domains |
Protein: ENSMUSP00000121277
Gene: ENSMUSG00000034614
| Domain | Start | End | E-Value | Type |
|---|
|
KR
|
1 |
41 |
7.93e-3 |
SMART |
|
transmembrane domain
|
108 |
130 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
C |
5: 64,055,954 (GRCm39) |
V230A |
probably benign |
Het |
| Ablim2 |
A |
T |
5: 35,985,483 (GRCm39) |
H260L |
probably damaging |
Het |
| Acp4 |
C |
T |
7: 43,905,272 (GRCm39) |
|
probably null |
Het |
| Acvr2b |
G |
T |
9: 119,261,654 (GRCm39) |
V416L |
probably damaging |
Het |
| Adipoq |
A |
T |
16: 22,965,430 (GRCm39) |
|
probably benign |
Het |
| Amhr2 |
A |
G |
15: 102,362,847 (GRCm39) |
Q538R |
probably benign |
Het |
| Apoh |
C |
T |
11: 108,300,062 (GRCm39) |
T237I |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,384,494 (GRCm39) |
T97I |
probably benign |
Het |
| Atg16l2 |
A |
T |
7: 100,939,863 (GRCm39) |
H499Q |
probably benign |
Het |
| Bicdl2 |
G |
A |
17: 23,886,536 (GRCm39) |
R375H |
probably benign |
Het |
| C3 |
T |
C |
17: 57,531,383 (GRCm39) |
T304A |
probably benign |
Het |
| Cast |
A |
T |
13: 74,852,301 (GRCm39) |
D647E |
probably damaging |
Het |
| Chrm2 |
T |
C |
6: 36,501,010 (GRCm39) |
V289A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,377,217 (GRCm39) |
D694G |
probably damaging |
Het |
| Cyp4a31 |
C |
T |
4: 115,427,438 (GRCm39) |
R215C |
possibly damaging |
Het |
| Dctn2 |
T |
C |
10: 127,114,062 (GRCm39) |
L334P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,842,247 (GRCm39) |
I4444T |
probably benign |
Het |
| Egf |
C |
A |
3: 129,548,600 (GRCm39) |
R5L |
unknown |
Het |
| Ercc1 |
A |
G |
7: 19,082,480 (GRCm39) |
N11S |
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,472,520 (GRCm39) |
S113P |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,706,610 (GRCm39) |
V958A |
probably benign |
Het |
| Fgf10 |
A |
G |
13: 118,918,132 (GRCm39) |
K140R |
probably benign |
Het |
| Gfra2 |
G |
A |
14: 71,214,737 (GRCm39) |
M163I |
probably benign |
Het |
| Gm14403 |
T |
C |
2: 177,201,354 (GRCm39) |
I191T |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,341,219 (GRCm39) |
E977D |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,448,714 (GRCm39) |
N354S |
possibly damaging |
Het |
| Hpgds |
A |
T |
6: 65,096,999 (GRCm39) |
I170N |
probably benign |
Het |
| Map4 |
A |
G |
9: 109,893,370 (GRCm39) |
|
probably null |
Het |
| Mettl13 |
C |
T |
1: 162,371,921 (GRCm39) |
G316D |
possibly damaging |
Het |
| Mia2 |
T |
A |
12: 59,148,274 (GRCm39) |
L45I |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,996,543 (GRCm39) |
|
probably null |
Het |
| Mob3a |
G |
T |
10: 80,527,008 (GRCm39) |
R106S |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,040,660 (GRCm39) |
F737I |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,703,081 (GRCm39) |
A2053T |
probably benign |
Het |
| Myrip |
A |
G |
9: 120,246,252 (GRCm39) |
S127G |
probably benign |
Het |
| Naaladl2 |
T |
A |
3: 24,262,528 (GRCm39) |
K395I |
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,336,986 (GRCm39) |
M678L |
probably benign |
Het |
| Nefh |
A |
T |
11: 4,891,233 (GRCm39) |
I462N |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,157,025 (GRCm39) |
M322T |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2z2 |
T |
A |
11: 58,346,562 (GRCm39) |
D71V |
probably damaging |
Het |
| Or56b1 |
T |
A |
7: 104,285,103 (GRCm39) |
V74E |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,528,495 (GRCm39) |
N288S |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,444,725 (GRCm39) |
C2257Y |
probably damaging |
Het |
| Sec23a |
G |
T |
12: 59,052,056 (GRCm39) |
Q90K |
probably damaging |
Het |
| Shisal2a |
T |
A |
4: 108,225,085 (GRCm39) |
N159I |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,712,685 (GRCm39) |
T61A |
possibly damaging |
Het |
| Slc39a11 |
C |
A |
11: 113,141,385 (GRCm39) |
A234S |
probably damaging |
Het |
| Smg6 |
C |
A |
11: 75,047,064 (GRCm39) |
N1252K |
probably damaging |
Het |
| Spata2 |
A |
T |
2: 167,326,227 (GRCm39) |
D197E |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,842,761 (GRCm39) |
F59L |
probably damaging |
Het |
| Tectb |
T |
A |
19: 55,181,105 (GRCm39) |
|
probably benign |
Het |
| Tnnc1 |
G |
A |
14: 30,932,562 (GRCm39) |
V82I |
probably damaging |
Het |
| Traf7 |
A |
T |
17: 24,729,015 (GRCm39) |
V513D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,399,908 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
A |
T |
17: 22,790,910 (GRCm39) |
Y129* |
probably null |
Het |
| Vrtn |
T |
A |
12: 84,696,690 (GRCm39) |
F480Y |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,246,649 (GRCm39) |
I664F |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,193,136 (GRCm39) |
V401E |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,180,835 (GRCm39) |
N231I |
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 |
|
|
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 |
|
|
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'- GTTGATCTAAAGCAAGCGTCTCG -3'
(R):5'- TCCTCAGTATCCGGACTCTAGAG -3'
Sequencing Primer
(F):5'- TCGGGCCAGAGTGCTGTAAG -3'
(R):5'- TATCCGGACTCTAGAGAGGGGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation