Incidental Mutation 'R6194:Lim2'
ID 502789
Institutional Source Beutler Lab
Gene Symbol Lim2
Ensembl Gene ENSMUSG00000093639
Gene Name lens intrinsic membrane protein 2
Synonyms 19kDa, MP19
MMRRC Submission 044334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R6194 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43079523-43085420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43085086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 159 (C159S)
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: C159S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004732
Gene: ENSMUSG00000093639
AA Change: C159S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,309,033 (GRCm39) I90V probably benign Het
Afap1l2 T A 19: 56,911,383 (GRCm39) R370S probably damaging Het
Alcam A G 16: 52,088,761 (GRCm39) Y537H probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asap1 A G 15: 64,001,058 (GRCm39) S508P probably damaging Het
Atg5 T C 10: 44,170,612 (GRCm39) L86P probably damaging Het
Atp13a5 G A 16: 29,127,057 (GRCm39) P502S probably damaging Het
AW209491 T A 13: 14,811,705 (GRCm39) I186K possibly damaging Het
Baz1b T C 5: 135,272,744 (GRCm39) Y1354H probably damaging Het
Card6 A T 15: 5,127,926 (GRCm39) S1157T unknown Het
Chil6 A G 3: 106,312,192 (GRCm39) probably null Het
Chrna1 A G 2: 73,400,816 (GRCm39) V238A probably benign Het
Cluap1 A G 16: 3,747,770 (GRCm39) S308G probably benign Het
Cntnap4 A G 8: 113,602,061 (GRCm39) D1155G probably damaging Het
Cptp A G 4: 155,951,098 (GRCm39) F123L probably damaging Het
Elapor1 T C 3: 108,373,095 (GRCm39) I600V probably benign Het
Fbxw2 G A 2: 34,697,416 (GRCm39) T317I probably damaging Het
Gc A T 5: 89,589,438 (GRCm39) V197E probably benign Het
Gusb C T 5: 130,018,906 (GRCm39) V577M possibly damaging Het
Hectd1 A T 12: 51,795,228 (GRCm39) N2400K probably damaging Het
Hnrnph1 T A 11: 50,274,104 (GRCm39) D340E possibly damaging Het
Hs3st1 C A 5: 39,771,748 (GRCm39) K298N probably damaging Het
Hunk A T 16: 90,293,283 (GRCm39) T522S probably damaging Het
Ifit3 T C 19: 34,565,027 (GRCm39) F191S probably benign Het
Ifnab T A 4: 88,609,362 (GRCm39) K35* probably null Het
Ifnab G T 4: 88,609,363 (GRCm39) N34K probably damaging Het
Ighmbp2 C A 19: 3,312,003 (GRCm39) R917L possibly damaging Het
Igkv13-84 C T 6: 68,916,916 (GRCm39) A71V possibly damaging Het
Irag1 T C 7: 110,498,901 (GRCm39) N377D probably damaging Het
Lrrc56 T C 7: 140,785,564 (GRCm39) Y147H probably damaging Het
Ltn1 A G 16: 87,212,698 (GRCm39) L621P probably damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mboat2 T A 12: 24,996,637 (GRCm39) S213R probably benign Het
Mmel1 T A 4: 154,967,673 (GRCm39) C99* probably null Het
Myo9a A G 9: 59,777,033 (GRCm39) I1144V probably benign Het
Naa15 A G 3: 51,370,721 (GRCm39) T612A probably benign Het
Naalad2 C T 9: 18,262,443 (GRCm39) V362I probably benign Het
Nbeal1 A T 1: 60,296,643 (GRCm39) I1178F possibly damaging Het
Nras C A 3: 102,966,269 (GRCm39) A11E probably damaging Het
Or13f5 T A 4: 52,825,779 (GRCm39) C127* probably null Het
Or56a3b G T 7: 104,771,377 (GRCm39) V238L probably benign Het
Pcdhb7 A G 18: 37,475,199 (GRCm39) T112A probably damaging Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Pfkfb2 A G 1: 130,625,624 (GRCm39) *519Q probably null Het
Prodh A T 16: 17,890,381 (GRCm39) H515Q probably benign Het
Rbfox2 T C 15: 76,968,357 (GRCm39) T435A possibly damaging Het
Rbks T C 5: 31,824,234 (GRCm39) E87G probably benign Het
Scyl1 G T 19: 5,820,334 (GRCm39) Q167K possibly damaging Het
Serpina3i T A 12: 104,232,762 (GRCm39) D222E probably benign Het
Slc36a4 T A 9: 15,638,172 (GRCm39) C199* probably null Het
Slx1b C T 7: 126,291,503 (GRCm39) R187H possibly damaging Het
Stxbp5 A G 10: 9,693,083 (GRCm39) F348L probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tfpt A T 7: 3,632,026 (GRCm39) L28Q probably damaging Het
Trap1 G A 16: 3,872,664 (GRCm39) T335M possibly damaging Het
Zcchc2 T A 1: 105,918,847 (GRCm39) F110I probably damaging Het
Zfp345 A T 2: 150,314,551 (GRCm39) C329S 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
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
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'- TCATGACCTTCTTTGCAGGTAC -3'
(R):5'- TCTAGAATCCAGGACTGAGCC -3'

Sequencing Primer
(F):5'- TTGAAACCTGGGGCATGGC -3'
(R):5'- AGGACTGAGCCCCCTCATTC -3'
Posted On 2018-02-27