Incidental Mutation 'IGL02381:Lman2'
ID 291377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lman2
Ensembl Gene ENSMUSG00000021484
Gene Name lectin, mannose-binding 2
Synonyms 1110003H06Rik, GP36B, VIP36, 1300009F09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # IGL02381
Quality Score
Status
Chromosome 13
Chromosomal Location 55491646-55510596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55499282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 198 (W198R)
Ref Sequence ENSEMBL: ENSMUSP00000021940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021940]
AlphaFold Q9DBH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000021940
AA Change: W198R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021940
Gene: ENSMUSG00000021484
AA Change: W198R

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,904,413 (GRCm39) I126F probably damaging Het
Antxrl T G 14: 33,778,568 (GRCm39) probably null Het
Arsa A T 15: 89,359,740 (GRCm39) Y62* probably null Het
Atg2b C A 12: 105,614,607 (GRCm39) C1108F probably damaging Het
Atp8a1 T C 5: 67,863,338 (GRCm39) Q651R probably benign Het
Atxn7l2 A G 3: 108,111,811 (GRCm39) probably benign Het
Cacna1f A G X: 7,482,307 (GRCm39) D597G probably damaging Het
Capn12 T C 7: 28,585,880 (GRCm39) probably benign Het
Ctnna2 A T 6: 76,931,766 (GRCm39) D624E probably benign Het
Dnah2 T C 11: 69,337,118 (GRCm39) E3274G probably benign Het
Dnah7b A T 1: 46,316,280 (GRCm39) N3131I probably damaging Het
Fam3a C T X: 73,430,690 (GRCm39) G112E probably damaging Het
Focad T G 4: 88,192,327 (GRCm39) probably benign Het
Fyb2 G A 4: 104,805,863 (GRCm39) probably benign Het
Htt C T 5: 34,987,104 (GRCm39) P1108S probably benign Het
Ift80 A T 3: 68,869,653 (GRCm39) probably null Het
Insc T C 7: 114,449,177 (GRCm39) *533Q probably null Het
Itga2 A G 13: 114,993,258 (GRCm39) C786R probably damaging Het
Med23 A G 10: 24,776,626 (GRCm39) T713A possibly damaging Het
Mtus1 A T 8: 41,536,156 (GRCm39) M520K probably benign Het
Mvd C A 8: 123,163,894 (GRCm39) G252V probably benign Het
Ncoa3 T A 2: 165,894,737 (GRCm39) V340E probably damaging Het
Necab1 A G 4: 15,148,812 (GRCm39) probably null Het
Noxred1 T C 12: 87,271,776 (GRCm39) D131G probably damaging Het
P2ry4 C A X: 99,637,807 (GRCm39) K30N probably damaging Het
Pcdhac2 T A 18: 37,277,320 (GRCm39) V100D possibly damaging Het
Piezo1 C A 8: 123,225,283 (GRCm39) R571L probably benign Het
Pkd1l2 C T 8: 117,762,539 (GRCm39) probably benign Het
Plekhm2 T C 4: 141,370,034 (GRCm39) T32A possibly damaging Het
Rev3l T C 10: 39,697,342 (GRCm39) V613A possibly damaging Het
Rp1 A G 1: 4,422,613 (GRCm39) S156P probably benign Het
Sema3f A T 9: 107,569,594 (GRCm39) D48E probably damaging Het
Shisal1 A G 15: 84,290,654 (GRCm39) S218P probably damaging Het
Slc29a4 T C 5: 142,705,854 (GRCm39) V446A probably benign Het
Sppl3 C T 5: 115,212,969 (GRCm39) probably null Het
Ttn T C 2: 76,599,982 (GRCm39) E19064G probably damaging Het
Vps35l A G 7: 118,374,598 (GRCm39) Y342C probably damaging Het
Other mutations in Lman2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Lman2 APN 13 55,499,055 (GRCm39) missense possibly damaging 0.91
R0331:Lman2 UTSW 13 55,500,829 (GRCm39) missense probably damaging 1.00
R1457:Lman2 UTSW 13 55,499,064 (GRCm39) missense probably benign 0.01
R1482:Lman2 UTSW 13 55,499,218 (GRCm39) missense possibly damaging 0.92
R2209:Lman2 UTSW 13 55,499,315 (GRCm39) missense probably damaging 0.99
R2347:Lman2 UTSW 13 55,500,812 (GRCm39) missense possibly damaging 0.91
R6132:Lman2 UTSW 13 55,510,038 (GRCm39) missense probably benign
R6297:Lman2 UTSW 13 55,496,244 (GRCm39) missense probably damaging 0.99
R6461:Lman2 UTSW 13 55,494,728 (GRCm39) missense probably damaging 1.00
R7148:Lman2 UTSW 13 55,500,762 (GRCm39) missense probably benign 0.04
R7422:Lman2 UTSW 13 55,499,338 (GRCm39) missense probably damaging 1.00
R7498:Lman2 UTSW 13 55,494,790 (GRCm39) missense probably damaging 1.00
R7720:Lman2 UTSW 13 55,500,890 (GRCm39) splice site probably null
R8826:Lman2 UTSW 13 55,510,368 (GRCm39) missense unknown
R8872:Lman2 UTSW 13 55,496,197 (GRCm39) missense probably benign 0.02
R9007:Lman2 UTSW 13 55,500,773 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16