Incidental Mutation 'IGL01592:Limk2'
ID 91624
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: 0.186) question?
Stock # IGL01592
Quality Score
Status
Chromosome 11
Chromosomal Location 3294256-3359189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3309052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 102 (K102R)
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: K102R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099162
Gene: ENSMUSG00000020451
AA Change: K102R

DomainStartEndE-ValueType
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: K81R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099163
Gene: ENSMUSG00000020451
AA Change: K81R

DomainStartEndE-ValueType
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: K81R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099165
Gene: ENSMUSG00000020451
AA Change: K81R

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000148091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132479
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A G 12: 53,188,925 (GRCm39) D2113G probably damaging Het
Atf6b T A 17: 34,868,111 (GRCm39) V125E probably damaging Het
Cdan1 T A 2: 120,556,466 (GRCm39) Y653F probably damaging Het
Ces1d A G 8: 93,921,717 (GRCm39) probably benign Het
Dnah2 G T 11: 69,321,913 (GRCm39) N3802K probably benign Het
Dnah5 A G 15: 28,236,783 (GRCm39) I370V probably benign Het
Dpp10 T C 1: 123,262,099 (GRCm39) E761G probably damaging Het
Dusp19 A G 2: 80,447,825 (GRCm39) E33G probably damaging Het
E2f7 T A 10: 110,582,267 (GRCm39) D25E possibly damaging Het
E2f8 T C 7: 48,517,605 (GRCm39) T733A probably damaging Het
Golga1 T C 2: 38,953,294 (GRCm39) E32G probably damaging Het
Grip1 T A 10: 119,765,908 (GRCm39) V80E probably damaging Het
Igsf6 T C 7: 120,670,016 (GRCm39) Y42C probably damaging Het
Katna1 T G 10: 7,617,218 (GRCm39) M70R probably damaging Het
Lypla1 T A 1: 4,898,874 (GRCm39) probably null Het
Or2z9 T A 8: 72,854,356 (GRCm39) F251I probably damaging Het
Or6c69b A G 10: 129,627,188 (GRCm39) I90T probably damaging Het
Pgap1 G A 1: 54,560,470 (GRCm39) P444L probably damaging Het
Pigr G A 1: 130,776,795 (GRCm39) V657M probably damaging Het
Plscr1 T A 9: 92,148,803 (GRCm39) Y214* probably null Het
Polq A C 16: 36,855,212 (GRCm39) I436L probably benign Het
Ppfia2 T A 10: 106,671,909 (GRCm39) probably benign Het
Serpina12 A G 12: 104,004,381 (GRCm39) S84P probably damaging Het
Slc30a6 T A 17: 74,726,523 (GRCm39) probably benign Het
Trim38 A G 13: 23,975,410 (GRCm39) T450A possibly damaging Het
Ubqlnl A T 7: 103,799,496 (GRCm39) probably benign Het
Vmn2r24 A G 6: 123,764,445 (GRCm39) K441E probably benign Het
Wnt8a A G 18: 34,677,846 (GRCm39) T85A probably damaging Het
Other mutations in Limk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Limk2 APN 11 3,305,475 (GRCm39) splice site probably benign
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
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 2013-12-09