Incidental Mutation 'IGL00757:Mgl2'
ID 11996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgl2
Ensembl Gene ENSMUSG00000040950
Gene Name macrophage galactose N-acetyl-galactosamine specific lectin 2
Synonyms CD301b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00757
Quality Score
Status
Chromosome 11
Chromosomal Location 70021155-70028376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70025976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 71 (I71F)
Ref Sequence ENSEMBL: ENSMUSP00000131344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041550] [ENSMUST00000108584] [ENSMUST00000165951]
AlphaFold A9XX86
Predicted Effect probably damaging
Transcript: ENSMUST00000041550
AA Change: I70F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: I70F

DomainStartEndE-ValueType
Pfam:Lectin_N 6 179 4.6e-56 PFAM
CLECT 189 313 2.37e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108584
AA Change: I64F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: I64F

DomainStartEndE-ValueType
Pfam:Lectin_N 8 173 8.6e-56 PFAM
CLECT 183 355 5.76e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147502
Predicted Effect probably damaging
Transcript: ENSMUST00000165951
AA Change: I71F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: I71F

DomainStartEndE-ValueType
Pfam:Lectin_N 21 133 2.1e-35 PFAM
Pfam:Lectin_N 129 180 5.4e-19 PFAM
CLECT 190 362 5.76e-25 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice that are either homozygous or heterozygous for a reporter allele are viable and fertile. In heterozygotes, transient depletion of CD301b+ dermal dendritic cells by injection of diptheria toxin results in impaired T helper 2 (Th2) cell mediated immunity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 A C 9: 54,530,003 (GRCm39) I231R possibly damaging Het
Ahctf1 G A 1: 179,596,696 (GRCm39) P94S probably damaging Het
Cldn34b3 T C X: 75,310,978 (GRCm39) I182T possibly damaging Het
Cps1 T A 1: 67,191,539 (GRCm39) probably benign Het
Cwf19l2 G T 9: 3,460,054 (GRCm39) A781S probably damaging Het
Cyp4v3 T C 8: 45,773,652 (GRCm39) I172M probably damaging Het
Fcgbpl1 T G 7: 27,853,870 (GRCm39) C1611W probably damaging Het
Gmnc T G 16: 26,782,689 (GRCm39) D22A probably damaging Het
Gpr89 T A 3: 96,778,850 (GRCm39) T408S probably benign Het
Grk2 A G 19: 4,339,339 (GRCm39) probably null Het
Kctd3 A G 1: 188,704,393 (GRCm39) S793P probably damaging Het
Lhx1 A G 11: 84,410,478 (GRCm39) F373S probably damaging Het
Nbeal1 T A 1: 60,234,302 (GRCm39) I91N possibly damaging Het
Otog T A 7: 45,939,552 (GRCm39) D2110E probably damaging Het
Pde9a A G 17: 31,662,146 (GRCm39) E90G probably benign Het
Plaat5 G T 19: 7,591,924 (GRCm39) E113D possibly damaging Het
Prdm10 T C 9: 31,229,842 (GRCm39) V86A possibly damaging Het
R3hdm1 T G 1: 128,164,176 (GRCm39) I1030R probably damaging Het
Ryr2 T A 13: 11,633,490 (GRCm39) probably null Het
Serpina1f A G 12: 103,659,721 (GRCm39) I187T probably damaging Het
Slc22a16 C T 10: 40,457,323 (GRCm39) T188M probably damaging Het
Spg11 T C 2: 121,901,440 (GRCm39) H1500R probably benign Het
Sptlc2 C T 12: 87,415,842 (GRCm39) E62K probably damaging Het
Tgfbr1 T A 4: 47,405,581 (GRCm39) S326T probably damaging Het
Tgif1 A G 17: 71,153,235 (GRCm39) Y39H probably damaging Het
Other mutations in Mgl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00677:Mgl2 APN 11 70,027,932 (GRCm39) missense probably benign 0.33
IGL00838:Mgl2 APN 11 70,025,038 (GRCm39) missense probably benign 0.00
IGL01118:Mgl2 APN 11 70,025,015 (GRCm39) missense probably benign 0.00
IGL01613:Mgl2 APN 11 70,024,984 (GRCm39) missense probably benign 0.08
IGL02094:Mgl2 APN 11 70,027,923 (GRCm39) missense possibly damaging 0.73
IGL03000:Mgl2 APN 11 70,025,026 (GRCm39) nonsense probably null
R1893:Mgl2 UTSW 11 70,024,993 (GRCm39) splice site probably null
R3767:Mgl2 UTSW 11 70,026,659 (GRCm39) missense probably damaging 1.00
R3768:Mgl2 UTSW 11 70,026,659 (GRCm39) missense probably damaging 1.00
R3769:Mgl2 UTSW 11 70,026,659 (GRCm39) missense probably damaging 1.00
R5467:Mgl2 UTSW 11 70,025,878 (GRCm39) missense possibly damaging 0.46
R5742:Mgl2 UTSW 11 70,027,510 (GRCm39) missense probably benign 0.00
R6018:Mgl2 UTSW 11 70,027,937 (GRCm39) makesense probably null
R7189:Mgl2 UTSW 11 70,027,869 (GRCm39) missense probably damaging 1.00
R7270:Mgl2 UTSW 11 70,026,506 (GRCm39) missense probably damaging 1.00
R7536:Mgl2 UTSW 11 70,027,833 (GRCm39) missense probably benign 0.02
R8330:Mgl2 UTSW 11 70,026,785 (GRCm39) missense probably benign 0.03
R9174:Mgl2 UTSW 11 70,026,606 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06