Incidental Mutation 'IGL03166:Lim2'
ID 411624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lim2
Ensembl Gene ENSMUSG00000093639
Gene Name lens intrinsic membrane protein 2
Synonyms 19kDa, MP19
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # IGL03166
Quality Score
Status
Chromosome 7
Chromosomal Location 43079523-43085420 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 43080047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 11 (C11*)
Ref Sequence ENSEMBL: ENSMUSP00000004732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004732] [ENSMUST00000177375]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000004732
AA Change: C11*
SMART Domains Protein: ENSMUSP00000004732
Gene: ENSMUSG00000093639
AA Change: C11*

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 157 5.5e-44 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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Ankfn1 G T 11: 89,429,264 (GRCm39) A40D probably benign Het
Arhgap20 T A 9: 51,761,077 (GRCm39) I940K possibly damaging Het
Arhgap24 T C 5: 103,023,552 (GRCm39) probably benign Het
Bdp1 T C 13: 100,172,308 (GRCm39) T2103A probably benign Het
Cep350 A G 1: 155,739,346 (GRCm39) S2166P possibly damaging Het
Dlg2 T C 7: 91,549,938 (GRCm39) probably benign Het
Fhip2b A T 14: 70,827,616 (GRCm39) C160S probably damaging Het
Fyco1 A T 9: 123,657,452 (GRCm39) L908H probably benign Het
Gprc5b C A 7: 118,583,222 (GRCm39) A216S probably benign Het
Lamc1 A G 1: 153,208,047 (GRCm39) V80A probably benign Het
Lilra6 T C 7: 3,915,626 (GRCm39) I370V possibly damaging Het
Lrp1b T A 2: 41,001,050 (GRCm39) H2058L probably damaging Het
Lrp3 G T 7: 34,901,905 (GRCm39) L659I probably benign Het
Lrrc8a T G 2: 30,145,377 (GRCm39) S64A probably benign Het
Lsr C T 7: 30,661,522 (GRCm39) probably null Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Man2c1 T A 9: 57,046,382 (GRCm39) V479E probably damaging Het
Mtf2 T A 5: 108,254,586 (GRCm39) D462E probably benign Het
Mx2 T C 16: 97,347,990 (GRCm39) I205T probably damaging Het
Nos1 T A 5: 118,052,517 (GRCm39) probably benign Het
Optc C T 1: 133,831,530 (GRCm39) probably benign Het
Or51e2 T C 7: 102,391,254 (GRCm39) N319D probably benign Het
Orm1 C A 4: 63,262,831 (GRCm39) probably benign Het
Pdzd8 T C 19: 59,288,940 (GRCm39) E820G probably damaging Het
Pkp1 A T 1: 135,805,862 (GRCm39) M612K probably damaging Het
Pno1 T A 11: 17,154,513 (GRCm39) probably null Het
Rbm34 T C 8: 127,697,606 (GRCm39) Q35R probably damaging Het
Ryr3 A T 2: 112,471,457 (GRCm39) Y4564* probably null Het
Slc34a3 T C 2: 25,122,186 (GRCm39) I140V probably damaging Het
Slc43a1 T C 2: 84,687,700 (GRCm39) I419T possibly damaging Het
Sltm C A 9: 70,450,251 (GRCm39) A17E possibly damaging Het
Smpdl3b T C 4: 132,468,842 (GRCm39) D125G probably benign Het
Snorc A C 1: 87,402,933 (GRCm39) probably benign Het
Supt3 G T 17: 45,234,106 (GRCm39) A48S probably damaging Het
Tlr3 A G 8: 45,855,965 (GRCm39) F72L probably benign Het
Trim36 T C 18: 46,345,388 (GRCm39) E15G probably benign Het
Tubb4b-ps1 A T 5: 7,229,965 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,871,331 (GRCm39) T651A probably benign Het
Wdr76 G T 2: 121,364,787 (GRCm39) V462F possibly damaging Het
Wnk2 C A 13: 49,224,520 (GRCm39) G1112* probably null Het
Zfp868 A C 8: 70,064,965 (GRCm39) C123W probably damaging Het
Zyg11b T A 4: 108,123,086 (GRCm39) M294L probably benign Het
Other mutations in Lim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0771:Lim2 UTSW 7 43,080,127 (GRCm39) missense possibly damaging 0.47
R1006:Lim2 UTSW 7 43,084,826 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02