Incidental Mutation 'IGL03105:Ldb2'
ID 418904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldb2
Ensembl Gene ENSMUSG00000039706
Gene Name LIM domain binding 2
Synonyms CLIM1, Ldb3, CLIM-1a, CLIM-1b, CLP-36
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03105
Quality Score
Status
Chromosome 5
Chromosomal Location 44629474-44957022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44956715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 41 (S41P)
Ref Sequence ENSEMBL: ENSMUSP00000143289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070748] [ENSMUST00000199256] [ENSMUST00000199261] [ENSMUST00000199534]
AlphaFold O55203
Predicted Effect probably benign
Transcript: ENSMUST00000070748
AA Change: S41P

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067737
Gene: ENSMUSG00000039706
AA Change: S41P

DomainStartEndE-ValueType
Pfam:LIM_bind 30 232 9.9e-56 PFAM
low complexity region 249 281 N/A INTRINSIC
PDB:2JTN|A 293 337 2e-21 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198894
Predicted Effect probably benign
Transcript: ENSMUST00000199256
AA Change: S41P

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143775
Gene: ENSMUSG00000039706
AA Change: S41P

DomainStartEndE-ValueType
Pfam:LIM_bind 30 232 6.9e-56 PFAM
low complexity region 249 281 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000199261
AA Change: S41P

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143289
Gene: ENSMUSG00000039706
AA Change: S41P

DomainStartEndE-ValueType
Pfam:LIM_bind 29 233 2.3e-68 PFAM
low complexity region 249 281 N/A INTRINSIC
PDB:2YPA|D 296 335 2e-20 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000199534
AA Change: S41P

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142442
Gene: ENSMUSG00000039706
AA Change: S41P

DomainStartEndE-ValueType
Pfam:LIM_bind 29 233 2e-71 PFAM
low complexity region 249 281 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Ldb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Ldb2 APN 5 44,699,026 (GRCm39) splice site probably null
IGL01757:Ldb2 APN 5 44,699,209 (GRCm39) splice site probably benign
IGL01936:Ldb2 APN 5 44,637,586 (GRCm39) missense probably damaging 1.00
IGL03108:Ldb2 APN 5 44,699,057 (GRCm39) missense probably damaging 1.00
R0152:Ldb2 UTSW 5 44,699,141 (GRCm39) missense possibly damaging 0.86
R0178:Ldb2 UTSW 5 44,630,841 (GRCm39) missense probably damaging 1.00
R0841:Ldb2 UTSW 5 44,690,016 (GRCm39) missense probably damaging 1.00
R1145:Ldb2 UTSW 5 44,690,016 (GRCm39) missense probably damaging 1.00
R1145:Ldb2 UTSW 5 44,690,016 (GRCm39) missense probably damaging 1.00
R1318:Ldb2 UTSW 5 44,692,379 (GRCm39) critical splice donor site probably null
R1607:Ldb2 UTSW 5 44,630,814 (GRCm39) missense probably damaging 0.99
R2863:Ldb2 UTSW 5 44,637,666 (GRCm39) missense probably damaging 0.99
R3803:Ldb2 UTSW 5 44,630,736 (GRCm39) missense probably benign 0.38
R4502:Ldb2 UTSW 5 44,826,749 (GRCm39) missense probably damaging 1.00
R4613:Ldb2 UTSW 5 44,633,893 (GRCm39) missense probably benign 0.27
R4985:Ldb2 UTSW 5 44,637,645 (GRCm39) missense probably damaging 1.00
R5475:Ldb2 UTSW 5 44,699,174 (GRCm39) missense probably damaging 1.00
R5512:Ldb2 UTSW 5 44,637,586 (GRCm39) missense probably damaging 1.00
R6058:Ldb2 UTSW 5 44,633,905 (GRCm39) missense possibly damaging 0.66
R6282:Ldb2 UTSW 5 44,690,007 (GRCm39) missense probably damaging 1.00
R6438:Ldb2 UTSW 5 44,637,652 (GRCm39) missense probably damaging 0.98
R6770:Ldb2 UTSW 5 44,826,738 (GRCm39) missense probably damaging 0.99
R6830:Ldb2 UTSW 5 44,699,199 (GRCm39) missense probably damaging 1.00
R8061:Ldb2 UTSW 5 44,637,612 (GRCm39) missense probably damaging 1.00
R8819:Ldb2 UTSW 5 44,956,757 (GRCm39) nonsense probably null
R8820:Ldb2 UTSW 5 44,956,757 (GRCm39) nonsense probably null
X0026:Ldb2 UTSW 5 44,690,070 (GRCm39) missense probably damaging 0.99
X0028:Ldb2 UTSW 5 44,699,136 (GRCm39) missense probably benign 0.04
Posted On 2016-08-02