Incidental Mutation 'IGL00534:Lman2'
ID4304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lman2
Ensembl Gene ENSMUSG00000021484
Gene Namelectin, mannose-binding 2
Synonyms1300009F09Rik, 1110003H06Rik, VIP36, GP36B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL00534
Quality Score
Status
Chromosome13
Chromosomal Location55343833-55362783 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55351242 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 237 (E237G)
Ref Sequence ENSEMBL: ENSMUSP00000021940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021940]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021940
AA Change: E237G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021940
Gene: ENSMUSG00000021484
AA Change: E237G

DomainStartEndE-ValueType
signal peptide 1 46 N/A INTRINSIC
Pfam:Lectin_leg-like 54 280 6.6e-104 PFAM
transmembrane domain 325 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225066
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsj G T 3: 126,364,945 A58S probably benign Het
Dchs1 A T 7: 105,757,943 S2148T probably benign Het
Esd T C 14: 74,738,461 V34A probably damaging Het
Esyt1 A G 10: 128,515,684 probably null Het
Glce G A 9: 62,060,483 T462M probably damaging Het
Gm382 A G X: 127,063,615 Y1141C probably damaging Het
Gm8909 A T 17: 36,168,129 I76N probably damaging Het
Hsd3b1 T C 3: 98,853,246 E143G probably damaging Het
Igf2r T C 17: 12,739,328 T153A probably damaging Het
Irs1 A G 1: 82,288,471 S675P probably benign Het
Lars A T 18: 42,229,654 H573Q probably damaging Het
Map2k4 C A 11: 65,719,479 probably benign Het
Pde6b T C 5: 108,426,571 probably benign Het
Pomgnt1 T C 4: 116,152,761 L136P probably damaging Het
Ralgapb T A 2: 158,430,500 M158K possibly damaging Het
Serpina3n A G 12: 104,412,345 E308G probably benign Het
Sgo2a T A 1: 58,016,344 N562K probably damaging Het
Sipa1l2 T C 8: 125,491,806 Y264C probably damaging Het
Snx27 G A 3: 94,561,972 H21Y probably damaging Het
Other mutations in Lman2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02381:Lman2 APN 13 55351469 missense possibly damaging 0.77
R0331:Lman2 UTSW 13 55353016 missense probably damaging 1.00
R1457:Lman2 UTSW 13 55351251 missense probably benign 0.01
R1482:Lman2 UTSW 13 55351405 missense possibly damaging 0.92
R2209:Lman2 UTSW 13 55351502 missense probably damaging 0.99
R2347:Lman2 UTSW 13 55352999 missense possibly damaging 0.91
R6132:Lman2 UTSW 13 55362225 missense probably benign
R6297:Lman2 UTSW 13 55348431 missense probably damaging 0.99
R6461:Lman2 UTSW 13 55346915 missense probably damaging 1.00
R7148:Lman2 UTSW 13 55352949 missense probably benign 0.04
R7422:Lman2 UTSW 13 55351525 missense probably damaging 1.00
Posted On2012-04-20