Incidental Mutation 'R1607:Ldb2'
ID 176544
Institutional Source Beutler Lab
Gene Symbol Ldb2
Ensembl Gene ENSMUSG00000039706
Gene Name LIM domain binding 2
Synonyms CLIM1, Ldb3, CLIM-1a, CLIM-1b, CLP-36
MMRRC Submission 039644-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1607 (G1)
Quality Score 200
Status Not validated
Chromosome 5
Chromosomal Location 44629474-44957022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44630814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 309 (E309A)
Ref Sequence ENSEMBL: ENSMUSP00000143289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070748] [ENSMUST00000199256] [ENSMUST00000199261] [ENSMUST00000199534]
AlphaFold O55203
Predicted Effect possibly damaging
Transcript: ENSMUST00000070748
AA Change: E311A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067737
Gene: ENSMUSG00000039706
AA Change: E311A

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 probably benign
Transcript: ENSMUST00000199256
SMART Domains Protein: ENSMUSP00000143775
Gene: ENSMUSG00000039706

DomainStartEndE-ValueType
Pfam:LIM_bind 30 232 6.9e-56 PFAM
low complexity region 249 281 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199261
AA Change: E309A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143289
Gene: ENSMUSG00000039706
AA Change: E309A

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
SMART Domains Protein: ENSMUSP00000142442
Gene: ENSMUSG00000039706

DomainStartEndE-ValueType
Pfam:LIM_bind 29 233 2e-71 PFAM
low complexity region 249 281 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,850,514 (GRCm39) P789S probably damaging Het
Adam17 T A 12: 21,384,139 (GRCm39) probably null Het
Afdn C T 17: 14,030,763 (GRCm39) R224W probably damaging Het
Als2 A G 1: 59,219,306 (GRCm39) Y1215H probably damaging Het
Anks1b A T 10: 89,878,410 (GRCm39) D73V probably damaging Het
Bpifb6 T C 2: 153,748,781 (GRCm39) F259S probably damaging Het
Cenpv A T 11: 62,416,002 (GRCm39) M249K probably benign Het
Ces1d C T 8: 93,912,746 (GRCm39) V231I probably benign Het
Clasp1 G A 1: 118,432,689 (GRCm39) V460I probably damaging Het
Cnot10 A T 9: 114,458,163 (GRCm39) Y114* probably null Het
Cpb1 G T 3: 20,317,946 (GRCm39) R193S probably benign Het
Ctc1 T C 11: 68,926,976 (GRCm39) S1207P possibly damaging Het
Cttnbp2 T A 6: 18,435,432 (GRCm39) K142M probably damaging Het
Dhrs7b T G 11: 60,742,717 (GRCm39) D136E probably benign Het
Dnah7b T C 1: 46,329,806 (GRCm39) S3217P probably damaging Het
Eif4g3 C T 4: 137,853,874 (GRCm39) S480L probably benign Het
Enah A T 1: 181,744,762 (GRCm39) probably null Het
Epx T C 11: 87,759,538 (GRCm39) D517G probably damaging Het
Gabrg2 T A 11: 41,867,490 (GRCm39) D43V probably damaging Het
Gdf9 A T 11: 53,328,338 (GRCm39) E431D possibly damaging Het
Ghr T C 15: 3,350,056 (GRCm39) D374G probably damaging Het
Gin1 A T 1: 97,713,875 (GRCm39) I392F probably damaging Het
Greb1l A G 18: 10,529,703 (GRCm39) E786G possibly damaging Het
Grk4 T C 5: 34,888,882 (GRCm39) V342A probably benign Het
Hhipl2 A T 1: 183,204,432 (GRCm39) Y135F possibly damaging Het
Insig1 C T 5: 28,276,706 (GRCm39) R91W probably damaging Het
Kcnf1 C G 12: 17,225,733 (GRCm39) D163H probably benign Het
Kif11 A T 19: 37,375,648 (GRCm39) K190* probably null Het
Lipo4 T G 19: 33,490,073 (GRCm39) D143A probably damaging Het
Map3k6 T G 4: 132,979,784 (GRCm39) I1261S probably damaging Het
Mtus1 C T 8: 41,468,446 (GRCm39) V27I possibly damaging Het
Ndufaf2 C T 13: 108,228,107 (GRCm39) V60I probably benign Het
Nup133 A G 8: 124,675,774 (GRCm39) F48L probably benign Het
Or1i2 G T 10: 78,447,974 (GRCm39) T167N probably benign Het
Or2w4 A C 13: 21,795,934 (GRCm39) F68L probably benign Het
Or5w11 T A 2: 87,459,321 (GRCm39) N171K probably benign Het
Pcdhb21 A T 18: 37,648,532 (GRCm39) N554Y probably damaging Het
Pcx A T 19: 4,653,187 (GRCm39) D284V possibly damaging Het
Pcyt1a T C 16: 32,285,937 (GRCm39) S203P probably damaging Het
Pdlim3 A T 8: 46,349,896 (GRCm39) I69F probably damaging Het
Pkp4 T C 2: 59,152,898 (GRCm39) V598A probably benign Het
Plbd1 T C 6: 136,589,304 (GRCm39) I509V probably benign Het
Polr3b C A 10: 84,488,647 (GRCm39) T319N probably benign Het
Ptprj T C 2: 90,293,664 (GRCm39) D380G probably benign Het
Ralgapa1 T G 12: 55,788,321 (GRCm39) R587S probably damaging Het
Scn5a C A 9: 119,315,158 (GRCm39) R1850L probably damaging Het
Ssc5d C A 7: 4,947,042 (GRCm39) T1132K probably benign Het
Stard7 T A 2: 127,137,406 (GRCm39) N285K possibly damaging Het
Tcp11l2 C T 10: 84,449,351 (GRCm39) R439W probably damaging Het
Tecrl T C 5: 83,428,355 (GRCm39) probably null Het
Tep1 A T 14: 51,062,020 (GRCm39) L2570Q probably null Het
Tex14 A T 11: 87,445,754 (GRCm39) D191V probably damaging Het
Tm7sf2 A G 19: 6,113,049 (GRCm39) probably null Het
Tmem132e A G 11: 82,328,196 (GRCm39) K408R probably benign Het
Tube1 A G 10: 39,020,762 (GRCm39) D216G possibly damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Vmn2r82 A G 10: 79,215,253 (GRCm39) H412R possibly damaging Het
Wtip T C 7: 33,816,020 (GRCm39) E352G probably damaging Het
Xirp2 T A 2: 67,340,639 (GRCm39) L960* probably null Het
Zc3h11a A C 1: 133,552,425 (GRCm39) S561A probably benign Het
Zfhx2 A T 14: 55,300,442 (GRCm39) D2436E probably damaging Het
Zfp763 T C 17: 33,238,881 (GRCm39) H88R probably benign 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
IGL03105:Ldb2 APN 5 44,956,715 (GRCm39) missense possibly damaging 0.70
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
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
Predicted Primers PCR Primer
(F):5'- ATGGACAGCGTAATCAGGTGCCAG -3'
(R):5'- GCGTGGTTGTTACACATCAGGAGG -3'

Sequencing Primer
(F):5'- CAGTAGCCCATCTTACTGGGAAG -3'
(R):5'- TGTCAGCTGCTGTTCACA -3'
Posted On 2014-04-24