Incidental Mutation 'IGL01118:Mgl2'
ID52330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgl2
Ensembl Gene ENSMUSG00000040950
Gene Namemacrophage galactose N-acetyl-galactosamine specific lectin 2
SynonymsCD301b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01118
Quality Score
Status
Chromosome11
Chromosomal Location70130329-70137550 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70134189 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 12 (E12G)
Ref Sequence ENSEMBL: ENSMUSP00000131344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041550] [ENSMUST00000108584] [ENSMUST00000165951]
Predicted Effect probably benign
Transcript: ENSMUST00000041550
AA Change: E12G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: E12G

DomainStartEndE-ValueType
Pfam:Lectin_N 6 179 4.6e-56 PFAM
CLECT 189 313 2.37e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108584
AA Change: E6G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: E6G

DomainStartEndE-ValueType
Pfam:Lectin_N 8 173 8.6e-56 PFAM
CLECT 183 355 5.76e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147502
Predicted Effect probably benign
Transcript: ENSMUST00000165951
AA Change: E12G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: E12G

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Amdhd1 A T 10: 93,531,568 D241E probably benign Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm21319 T A 12: 87,773,442 N116Y probably damaging Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Gtf2h3 T C 5: 124,595,668 V268A probably damaging Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Igkv3-2 A T 6: 70,698,994 S96C probably damaging Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Nkrf A G X: 36,888,757 F624S probably damaging Het
Noto T C 6: 85,424,210 S74P probably benign Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Ttf2 A G 3: 100,967,097 probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Zdhhc15 G T X: 104,598,106 Q82K probably benign Het
Other mutations in Mgl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00677:Mgl2 APN 11 70137106 missense probably benign 0.33
IGL00757:Mgl2 APN 11 70135150 missense probably damaging 1.00
IGL00838:Mgl2 APN 11 70134212 missense probably benign 0.00
IGL01613:Mgl2 APN 11 70134158 missense probably benign 0.08
IGL02094:Mgl2 APN 11 70137097 missense possibly damaging 0.73
IGL03000:Mgl2 APN 11 70134200 nonsense probably null
R1893:Mgl2 UTSW 11 70134167 unclassified probably null
R3767:Mgl2 UTSW 11 70135833 missense probably damaging 1.00
R3768:Mgl2 UTSW 11 70135833 missense probably damaging 1.00
R3769:Mgl2 UTSW 11 70135833 missense probably damaging 1.00
R5467:Mgl2 UTSW 11 70135052 missense possibly damaging 0.46
R5742:Mgl2 UTSW 11 70136684 missense probably benign 0.00
R6018:Mgl2 UTSW 11 70137111 makesense probably null
R7189:Mgl2 UTSW 11 70137043 missense probably damaging 1.00
R7270:Mgl2 UTSW 11 70135680 missense probably damaging 1.00
R7536:Mgl2 UTSW 11 70137007 missense probably benign 0.02
Posted On2013-06-21