Incidental Mutation 'R1006:Lim2'
ID 95749
Institutional Source Beutler Lab
Gene Symbol Lim2
Ensembl Gene ENSMUSG00000093639
Gene Name lens intrinsic membrane protein 2
Synonyms 19kDa, MP19
MMRRC Submission 039116-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R1006 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43079523-43085420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43084826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 141 (I141N)
Ref Sequence ENSEMBL: ENSMUSP00000004732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004732] [ENSMUST00000070518] [ENSMUST00000177375] [ENSMUST00000206741]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000004732
AA Change: I141N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004732
Gene: ENSMUSG00000093639
AA Change: I141N

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 157 5.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070518
SMART Domains Protein: ENSMUSP00000068946
Gene: ENSMUSG00000004612

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 150 5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177375
SMART Domains Protein: ENSMUSP00000135834
Gene: ENSMUSG00000093639

DomainStartEndE-ValueType
low complexity region 26 46 N/A INTRINSIC
low complexity region 116 131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206251
Predicted Effect probably benign
Transcript: ENSMUST00000206741
Meta Mutation Damage Score 0.8541 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.8%
  • 10x: 93.4%
  • 20x: 82.9%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutants exhibit microphthalmia, total lens opacity, disorganized lens fibers, posterior rupturing of lens capsule, and some have vacuolated lens. Heterozygotes exhibit the same dense cataract, but without microphthalmia or lens rupture. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,911,085 (GRCm39) I282N probably benign Het
Akr1c18 T C 13: 4,186,654 (GRCm39) I265V probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Arfgef1 T C 1: 10,210,706 (GRCm39) I1788V probably benign Het
Cacng7 T A 7: 3,415,445 (GRCm39) I270N possibly damaging Het
Ccdc81 C T 7: 89,515,769 (GRCm39) E637K probably benign Het
Cnbd2 A G 2: 156,170,328 (GRCm39) I138V possibly damaging Het
Cntnap5b A G 1: 100,311,342 (GRCm39) K983E probably benign Het
Col14a1 T C 15: 55,383,331 (GRCm39) S1770P probably benign Het
Cpsf6 A T 10: 117,201,973 (GRCm39) probably benign Het
Ctsc G A 7: 87,959,037 (GRCm39) R439H probably damaging Het
Dcun1d1 A G 3: 35,951,930 (GRCm39) probably benign Het
Flg2 A G 3: 93,108,514 (GRCm39) I181V probably benign Het
Gbp2 A T 3: 142,343,183 (GRCm39) S567C probably damaging Het
Gm5114 A G 7: 39,058,510 (GRCm39) S370P probably damaging Het
Kcnh7 A G 2: 62,546,527 (GRCm39) V1018A probably benign Het
Kmt2a G A 9: 44,758,993 (GRCm39) A952V probably damaging Het
Krt1 C T 15: 101,756,326 (GRCm39) E340K possibly damaging Het
Nlrp4a T C 7: 26,152,892 (GRCm39) V654A probably benign Het
Or5b24 T A 19: 12,912,638 (GRCm39) C179S probably damaging Het
Prr14l T C 5: 32,986,826 (GRCm39) S890G probably benign Het
Psmd14 T A 2: 61,627,726 (GRCm39) probably null Het
Ptpn13 A G 5: 103,734,655 (GRCm39) D2129G probably benign Het
Pum1 C T 4: 130,499,199 (GRCm39) T760M probably damaging Het
Rif1 A G 2: 51,975,041 (GRCm39) I317V probably damaging Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slfn8 A T 11: 82,894,337 (GRCm39) H767Q possibly damaging Het
Sned1 G A 1: 93,184,114 (GRCm39) G114D probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Tenm3 A T 8: 48,681,577 (GRCm39) D2684E probably damaging Het
Tet2 T C 3: 133,182,362 (GRCm39) T1201A possibly damaging Het
Vax2 T C 6: 83,714,759 (GRCm39) S225P probably damaging Het
Vcan A G 13: 89,833,196 (GRCm39) probably null Het
Washc5 T A 15: 59,241,035 (GRCm39) Q100L probably benign Het
Washc5 G T 15: 59,241,036 (GRCm39) Q100K probably benign Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zmiz1 A G 14: 25,663,404 (GRCm39) Y1051C unknown Het
Zswim2 G A 2: 83,745,737 (GRCm39) S567L probably damaging Het
Other mutations in Lim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03166:Lim2 APN 7 43,080,047 (GRCm39) nonsense probably null
R0771:Lim2 UTSW 7 43,080,127 (GRCm39) missense possibly damaging 0.47
R4693:Lim2 UTSW 7 43,080,105 (GRCm39) missense probably damaging 1.00
R6194:Lim2 UTSW 7 43,085,086 (GRCm39) missense probably damaging 1.00
R6723:Lim2 UTSW 7 43,085,099 (GRCm39) missense probably benign
R7658:Lim2 UTSW 7 43,083,054 (GRCm39) missense possibly damaging 0.65
R8899:Lim2 UTSW 7 43,083,055 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- AGAACACTGCAAGGATGTTGCCC -3'
(R):5'- ACTCCTTAGAGTCTGCCTTCAGAGC -3'

Sequencing Primer
(F):5'- AAACACTTTATTGTGCTTCCCAG -3'
(R):5'- CTGGGTAGGATACCTTGTCAAC -3'
Posted On 2014-01-05