Incidental Mutation 'R8468:Lgals3'
ID 656928
Institutional Source Beutler Lab
Gene Symbol Lgals3
Ensembl Gene ENSMUSG00000050335
Gene Name lectin, galactose binding, soluble 3
Synonyms galectin-3, L-34, Mac-2, gal3
MMRRC Submission 067912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8468 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 47611317-47623624 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47619104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 146 (I146V)
Ref Sequence ENSEMBL: ENSMUSP00000114350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000142734] [ENSMUST00000144794] [ENSMUST00000146468] [ENSMUST00000150290] [ENSMUST00000151405] [ENSMUST00000226585]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000142734
AA Change: I146V

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118169
Gene: ENSMUSG00000050335
AA Change: I146V

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144794
SMART Domains Protein: ENSMUSP00000114177
Gene: ENSMUSG00000050335

DomainStartEndE-ValueType
low complexity region 29 94 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000146468
AA Change: I146V

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119275
Gene: ENSMUSG00000050335
AA Change: I146V

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000150290
AA Change: I146V

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114350
Gene: ENSMUSG00000050335
AA Change: I146V

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151405
SMART Domains Protein: ENSMUSP00000118660
Gene: ENSMUSG00000050335

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226585
Meta Mutation Damage Score 0.0763 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a null allele show susceptibility to S. pneumoniae infection, resistance to renal fibrosis, defects in chondrocyte differentiation, and impaired macrophage activation. Homozygotes for another null allele show altered peritoneal inflammation, and susceptibility to T. gondii infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A G 16: 85,592,444 (GRCm39) W655R possibly damaging Het
Adamts3 C T 5: 89,842,627 (GRCm39) A748T probably benign Het
Ano1 A C 7: 144,209,357 (GRCm39) F248C probably damaging Het
Ap2b1 T A 11: 83,241,891 (GRCm39) L628Q probably damaging Het
BC035947 C A 1: 78,474,967 (GRCm39) A522S probably damaging Het
Bdp1 A G 13: 100,197,076 (GRCm39) V1103A probably benign Het
Cd248 T A 19: 5,119,910 (GRCm39) I586N possibly damaging Het
Dnah9 C A 11: 65,722,556 (GRCm39) M4428I probably benign Het
Epha5 T C 5: 84,290,275 (GRCm39) probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fastkd2 T A 1: 63,770,923 (GRCm39) L93Q probably benign Het
Gm6665 T C 18: 31,953,453 (GRCm39) D5G possibly damaging Het
Gphn T C 12: 78,273,601 (GRCm39) V17A probably benign Het
Gpr85 A T 6: 13,836,295 (GRCm39) L203H probably damaging Het
Grk6 A G 13: 55,599,198 (GRCm39) Y166C probably damaging Het
Ints3 A G 3: 90,313,560 (GRCm39) V356A probably damaging Het
Krt33b G A 11: 99,920,615 (GRCm39) R13C probably damaging Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Miip G T 4: 147,945,928 (GRCm39) D325E probably damaging Het
Naaladl1 T A 19: 6,158,615 (GRCm39) V249E probably damaging Het
Nfxl1 C T 5: 72,675,548 (GRCm39) R811K possibly damaging Het
Or12e10 T C 2: 87,641,082 (GRCm39) I306T possibly damaging Het
Or2ag2b A G 7: 106,418,046 (GRCm39) Y252C possibly damaging Het
Or52e7 A T 7: 104,684,953 (GRCm39) I183F probably damaging Het
Or56a3b A G 7: 104,770,685 (GRCm39) D7G probably benign Het
Or5ak24 T A 2: 85,260,522 (GRCm39) Y217F probably damaging Het
Or6c69c C T 10: 129,910,303 (GRCm39) T8I probably benign Het
Pkd2l2 A G 18: 34,560,464 (GRCm39) D357G possibly damaging Het
Ppp1r36 A G 12: 76,482,979 (GRCm39) Y189C probably damaging Het
Rev3l A G 10: 39,703,987 (GRCm39) E2011G probably damaging Het
Sestd1 T A 2: 77,022,090 (GRCm39) T534S probably benign Het
Sfmbt1 G A 14: 30,495,941 (GRCm39) A75T probably benign Het
Smarcc2 G A 10: 128,320,262 (GRCm39) R882H probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Speg C T 1: 75,407,953 (GRCm39) A3216V probably damaging Het
Vmn1r12 A G 6: 57,136,370 (GRCm39) T112A probably benign Het
Zfp937 T G 2: 150,080,634 (GRCm39) D221E probably benign Het
Other mutations in Lgals3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Lgals3 APN 14 47,622,175 (GRCm39) missense probably benign 0.11
IGL02608:Lgals3 APN 14 47,623,058 (GRCm39) missense probably benign 0.03
IGL02992:Lgals3 APN 14 47,622,982 (GRCm39) missense probably benign 0.06
R1892:Lgals3 UTSW 14 47,622,164 (GRCm39) missense possibly damaging 0.77
R4583:Lgals3 UTSW 14 47,619,144 (GRCm39) splice site probably null
R4663:Lgals3 UTSW 14 47,619,079 (GRCm39) splice site probably null
R8825:Lgals3 UTSW 14 47,617,557 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTAGGCCCTGGACAAGGTG -3'
(R):5'- AGAGGATGTTACCATTCACTCTG -3'

Sequencing Primer
(F):5'- GGTCTCAGAATCTACACAGGGTTC -3'
(R):5'- GATGTTACCATTCACTCTGTAACATC -3'
Posted On 2021-01-18