Incidental Mutation 'IGL02381:Lman2'
ID291377
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: 0.185) question?
Stock #IGL02381
Quality Score
Status
Chromosome13
Chromosomal Location55343833-55362783 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55351469 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 198 (W198R)
Ref Sequence ENSEMBL: ENSMUSP00000021940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021940]
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
1810041L15Rik A G 15: 84,406,453 S218P probably damaging Het
9030624J02Rik A G 7: 118,775,375 Y342C probably damaging Het
Abcb5 T A 12: 118,940,678 I126F probably damaging Het
Antxrl T G 14: 34,056,611 probably null Het
Arsa A T 15: 89,475,537 Y62* probably null Het
Atg2b C A 12: 105,648,348 C1108F probably damaging Het
Atp8a1 T C 5: 67,705,995 Q651R probably benign Het
Atxn7l2 A G 3: 108,204,495 probably benign Het
Cacna1f A G X: 7,616,068 D597G probably damaging Het
Capn12 T C 7: 28,886,455 probably benign Het
Ctnna2 A T 6: 76,954,783 D624E probably benign Het
Dnah2 T C 11: 69,446,292 E3274G probably benign Het
Dnah7b A T 1: 46,277,120 N3131I probably damaging Het
Fam3a C T X: 74,387,084 G112E probably damaging Het
Focad T G 4: 88,274,090 probably benign Het
Fyb2 G A 4: 104,948,666 probably benign Het
Htt C T 5: 34,829,760 P1108S probably benign Het
Ift80 A T 3: 68,962,320 probably null Het
Insc T C 7: 114,849,942 *533Q probably null Het
Itga2 A G 13: 114,856,722 C786R probably damaging Het
Med23 A G 10: 24,900,728 T713A possibly damaging Het
Mtus1 A T 8: 41,083,119 M520K probably benign Het
Mvd C A 8: 122,437,155 G252V probably benign Het
Ncoa3 T A 2: 166,052,817 V340E probably damaging Het
Necab1 A G 4: 15,148,812 probably null Het
Noxred1 T C 12: 87,225,002 D131G probably damaging Het
P2ry4 C A X: 100,594,201 K30N probably damaging Het
Pcdhac2 T A 18: 37,144,267 V100D possibly damaging Het
Piezo1 C A 8: 122,498,544 R571L probably benign Het
Pkd1l2 C T 8: 117,035,800 probably benign Het
Plekhm2 T C 4: 141,642,723 T32A possibly damaging Het
Rev3l T C 10: 39,821,346 V613A possibly damaging Het
Rp1 A G 1: 4,352,390 S156P probably benign Het
Sema3f A T 9: 107,692,395 D48E probably damaging Het
Slc29a4 T C 5: 142,720,099 V446A probably benign Het
Sppl3 C T 5: 115,074,910 probably null Het
Ttn T C 2: 76,769,638 E19064G probably damaging Het
Other mutations in Lman2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Lman2 APN 13 55351242 missense possibly damaging 0.91
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
R7498:Lman2 UTSW 13 55346977 missense probably damaging 1.00
Posted On2015-04-16