Incidental Mutation 'R8120:Limk2'
| ID |
647934 |
| 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 |
067549-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R8120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3294256-3359189 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 3298589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101638]
[ENSMUST00000101640]
[ENSMUST00000101642]
[ENSMUST00000110029]
|
| AlphaFold |
O54785 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000101638
|
| SMART Domains |
Protein: ENSMUSP00000099162
Gene: ENSMUSG00000020451
| 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 null
Transcript: ENSMUST00000101640
|
| SMART Domains |
Protein: ENSMUSP00000099163
Gene: ENSMUSG00000020451
| 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 null
Transcript: ENSMUST00000101642
|
| SMART Domains |
Protein: ENSMUSP00000099165
Gene: ENSMUSG00000020451
| 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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,349,460 (GRCm39) |
Q239L |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,298,540 (GRCm39) |
I2361V |
possibly damaging |
Het |
| Abcc8 |
T |
C |
7: 45,786,108 (GRCm39) |
E655G |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,035,360 (GRCm39) |
V662I |
probably benign |
Het |
| Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
| Als2cl |
A |
C |
9: 110,714,460 (GRCm39) |
I103L |
possibly damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,248,796 (GRCm39) |
D370V |
probably damaging |
Het |
| Brwd1 |
A |
C |
16: 95,820,649 (GRCm39) |
D1292E |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,718,796 (GRCm39) |
T607A |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,475,583 (GRCm39) |
Y296C |
unknown |
Het |
| Cubn |
A |
T |
2: 13,336,471 (GRCm39) |
C2452S |
probably damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,675,183 (GRCm39) |
Y187* |
probably null |
Het |
| Dhodh |
G |
A |
8: 110,328,057 (GRCm39) |
T172I |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,002,769 (GRCm39) |
R3876C |
probably damaging |
Het |
| Dnai4 |
G |
A |
4: 102,923,531 (GRCm39) |
R433W |
probably damaging |
Het |
| Farsb |
A |
T |
1: 78,439,475 (GRCm39) |
N389K |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,228,527 (GRCm39) |
T1735A |
probably benign |
Het |
| Garin4 |
T |
G |
1: 190,895,022 (GRCm39) |
Q540H |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,395,943 (GRCm39) |
R136H |
probably damaging |
Het |
| Gpr171 |
T |
A |
3: 59,005,406 (GRCm39) |
Y123F |
probably damaging |
Het |
| Hcar1 |
C |
A |
5: 124,017,068 (GRCm39) |
V208F |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,818,779 (GRCm39) |
L524M |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,360,368 (GRCm39) |
H57Q |
probably damaging |
Het |
| Itpripl2 |
G |
T |
7: 118,089,508 (GRCm39) |
N350K |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,246,267 (GRCm39) |
V315E |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,637,422 (GRCm39) |
Y386C |
probably benign |
Het |
| Odr4 |
T |
C |
1: 150,260,177 (GRCm39) |
|
probably null |
Het |
| Or10j3 |
C |
T |
1: 173,031,502 (GRCm39) |
T193I |
probably benign |
Het |
| Or6z5 |
A |
T |
7: 6,477,119 (GRCm39) |
R3S |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,717,574 (GRCm39) |
A1512T |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,430,524 (GRCm39) |
D176G |
possibly damaging |
Het |
| Pde4dip |
T |
A |
3: 97,614,254 (GRCm39) |
T1855S |
probably null |
Het |
| Prr12 |
A |
G |
7: 44,684,166 (GRCm39) |
Y1625H |
probably damaging |
Het |
| Psmc2 |
T |
C |
5: 22,005,566 (GRCm39) |
Y216H |
probably damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,733,034 (GRCm39) |
E641D |
probably benign |
Het |
| Rtf1 |
A |
G |
2: 119,531,602 (GRCm39) |
T110A |
probably damaging |
Het |
| Rusc1 |
C |
A |
3: 88,996,513 (GRCm39) |
W690L |
probably damaging |
Het |
| Sardh |
A |
G |
2: 27,108,863 (GRCm39) |
V624A |
possibly damaging |
Het |
| Slc17a9 |
G |
A |
2: 180,374,308 (GRCm39) |
G125S |
probably benign |
Het |
| Smpdl3a |
A |
T |
10: 57,683,547 (GRCm39) |
N219I |
probably damaging |
Het |
| Spo11 |
G |
T |
2: 172,827,251 (GRCm39) |
D155Y |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,660,099 (GRCm39) |
T44A |
probably benign |
Het |
| Tceanc2 |
A |
T |
4: 107,034,829 (GRCm39) |
I11N |
probably benign |
Het |
| Tead2 |
A |
T |
7: 44,865,752 (GRCm39) |
|
probably benign |
Het |
| Tpk1 |
A |
G |
6: 43,445,930 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,593,835 (GRCm39) |
N20602D |
probably damaging |
Het |
| Tub |
T |
A |
7: 108,624,803 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
T |
7: 33,867,812 (GRCm39) |
S42T |
probably benign |
Het |
| Vangl1 |
T |
A |
3: 102,070,758 (GRCm39) |
R393* |
probably null |
Het |
| Washc3 |
G |
A |
10: 88,037,159 (GRCm39) |
|
probably null |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp267 |
A |
T |
3: 36,218,640 (GRCm39) |
N221I |
possibly damaging |
Het |
| Zfp386 |
C |
T |
12: 116,018,573 (GRCm39) |
P81S |
unknown |
Het |
| Zw10 |
A |
T |
9: 48,985,413 (GRCm39) |
E616D |
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 |
|
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'- GGCAAGAGCTCTTCACAGAC -3'
(R):5'- CTTGGCCTAGAAGACAGGAG -3'
Sequencing Primer
(F):5'- TAATCACCTCAAGGGCTGCTC -3'
(R):5'- GCCTAGAAGACAGGAGTAGCTG -3'
|
| Posted On |
2020-09-11 |
Incidental Mutation