Incidental Mutation 'IGL02094:Mgl2'
ID279540
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 #IGL02094
Quality Score
Status
Chromosome11
Chromosomal Location70130329-70137550 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70137097 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 377 (I377K)
Ref Sequence ENSEMBL: ENSMUSP00000131344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041550] [ENSMUST00000108584] [ENSMUST00000165951]
Predicted Effect unknown
Transcript: ENSMUST00000041550
AA Change: I328K
SMART Domains Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: I328K

DomainStartEndE-ValueType
Pfam:Lectin_N 6 179 4.6e-56 PFAM
CLECT 189 313 2.37e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108584
AA Change: I370K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: I370K

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 possibly damaging
Transcript: ENSMUST00000165951
AA Change: I377K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: I377K

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,871,445 N658S possibly damaging Het
Adcy10 T C 1: 165,570,620 Y1429H probably damaging Het
Aebp1 G A 11: 5,868,357 M98I probably benign Het
Arl3 T C 19: 46,558,341 D15G probably benign Het
Casp2 T A 6: 42,280,359 I414N probably damaging Het
Ceacam1 T C 7: 25,474,543 D229G probably damaging Het
Cog7 G T 7: 121,963,247 A234E probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a59 A T 5: 146,104,821 T392S probably benign Het
Ebf2 G A 14: 67,235,240 V36M possibly damaging Het
Fbxw15 A C 9: 109,558,240 V229G possibly damaging Het
Got1l1 A G 8: 27,199,845 V171A probably benign Het
Itgax A G 7: 128,131,473 Y121C probably damaging Het
Kcng4 C A 8: 119,633,221 A139S probably damaging Het
Kcnj9 G T 1: 172,325,708 T283K probably damaging Het
Myo15 T C 11: 60,510,647 probably benign Het
Nod1 A T 6: 54,939,390 probably null Het
Nr1h5 A T 3: 102,952,196 C182* probably null Het
Nup210l G T 3: 90,180,213 probably null Het
Ptbp2 G A 3: 119,752,940 probably benign Het
Ptpn13 T G 5: 103,594,617 F2401V probably damaging Het
Rbbp6 T C 7: 122,997,262 S676P probably damaging Het
Recql4 T A 15: 76,709,517 Q131L probably benign Het
Sbno2 G A 10: 80,057,645 P1274L probably benign Het
Sec24c T C 14: 20,688,402 V341A probably damaging Het
Smc1b A T 15: 85,097,891 probably benign Het
Sptbn1 T C 11: 30,100,659 H2310R probably benign Het
Tas2r109 T A 6: 132,980,239 I243F possibly damaging Het
Trpc1 A C 9: 95,743,281 D97E probably damaging Het
Trpm2 G A 10: 77,942,996 Q379* probably null Het
Ttn A G 2: 76,818,823 probably benign Het
Vmn2r74 A T 7: 85,961,461 F8I probably benign Het
Zfp36 C T 7: 28,377,763 S240N probably benign Het
Zfp65 A G 13: 67,708,185 I325T possibly damaging 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
IGL01118:Mgl2 APN 11 70134189 missense probably benign 0.00
IGL01613:Mgl2 APN 11 70134158 missense probably benign 0.08
IGL03000:Mgl2 APN 11 70134200 nonsense probably null
R1893:Mgl2 UTSW 11 70134167 splice site 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
R8330:Mgl2 UTSW 11 70135959 missense probably benign 0.03
Posted On2015-04-16