Incidental Mutation 'IGL00911:Mbl2'
ID 29494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbl2
Ensembl Gene ENSMUSG00000024863
Gene Name mannose-binding lectin (protein C) 2
Synonyms MBL, MBL-C, MBP-C
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00911
Quality Score
Status
Chromosome 19
Chromosomal Location 30210342-30217087 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30215794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 100 (D100E)
Ref Sequence ENSEMBL: ENSMUSP00000025797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025797]
AlphaFold P41317
Predicted Effect possibly damaging
Transcript: ENSMUST00000025797
AA Change: D100E

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025797
Gene: ENSMUSG00000024863
AA Change: D100E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Collagen 35 98 1.8e-10 PFAM
CLECT 117 241 3.52e-20 SMART
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 the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm T C 5: 90,673,450 (GRCm39) V234A probably benign Het
Alas1 T A 9: 106,113,671 (GRCm39) I525F probably benign Het
Ambra1 T A 2: 91,598,027 (GRCm39) probably benign Het
Apbb2 G A 5: 66,608,855 (GRCm39) T264M probably damaging Het
Arb2a T A 13: 78,100,094 (GRCm39) probably benign Het
Arhgap40 A G 2: 158,376,636 (GRCm39) probably benign Het
Chd9 C T 8: 91,778,320 (GRCm39) P2793L probably damaging Het
Clstn1 T G 4: 149,727,648 (GRCm39) probably benign Het
Cyp2f2 T C 7: 26,821,354 (GRCm39) V13A probably damaging Het
Dnah1 C T 14: 31,026,391 (GRCm39) probably null Het
Eogt A T 6: 97,096,961 (GRCm39) V349E probably damaging Het
Epb41 T C 4: 131,717,095 (GRCm39) D353G possibly damaging Het
Fbxo38 T A 18: 62,663,871 (GRCm39) I207F possibly damaging Het
Frem2 T C 3: 53,479,883 (GRCm39) S1937G probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kcnh3 G T 15: 99,130,882 (GRCm39) G500* probably null Het
Khdc1b A T 1: 21,454,578 (GRCm39) K94* probably null Het
Lpcat2 T C 8: 93,617,338 (GRCm39) Y367H probably damaging Het
Lrrd1 A C 5: 3,915,689 (GRCm39) N762T probably benign Het
Mthfr T G 4: 148,125,759 (GRCm39) S31A probably benign Het
Nrp1 T A 8: 129,202,688 (GRCm39) S558T probably benign Het
Nrxn3 T C 12: 90,171,366 (GRCm39) L1254P probably damaging Het
Or2ag12 A T 7: 106,277,040 (GRCm39) Y218N probably damaging Het
Pabpc1l C A 2: 163,884,343 (GRCm39) T360K probably damaging Het
Pcgf1 G A 6: 83,057,606 (GRCm39) G92S probably damaging Het
Penk T C 4: 4,134,347 (GRCm39) Y100C probably damaging Het
Pik3r1 T C 13: 101,894,169 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,187,971 (GRCm39) T3446S probably benign Het
Plcg2 G A 8: 118,313,254 (GRCm39) D473N probably benign Het
Poll G T 19: 45,542,040 (GRCm39) T422K probably damaging Het
Skint3 T A 4: 112,113,106 (GRCm39) probably benign Het
Stab2 C A 10: 86,805,617 (GRCm39) C243F probably damaging Het
Supt6 T C 11: 78,122,007 (GRCm39) E215G possibly damaging Het
Tas1r2 C A 4: 139,387,602 (GRCm39) P354T probably benign Het
Tenm2 G A 11: 35,899,560 (GRCm39) Q2533* probably null Het
Tmem121 C T 12: 113,151,851 (GRCm39) A23V probably damaging Het
Other mutations in Mbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2174:Mbl2 UTSW 19 30,211,412 (GRCm39) missense possibly damaging 0.76
R3836:Mbl2 UTSW 19 30,216,914 (GRCm39) missense probably damaging 1.00
R4405:Mbl2 UTSW 19 30,216,916 (GRCm39) missense probably benign 0.15
R6500:Mbl2 UTSW 19 30,216,839 (GRCm39) missense possibly damaging 0.80
R7402:Mbl2 UTSW 19 30,216,802 (GRCm39) missense possibly damaging 0.73
R7922:Mbl2 UTSW 19 30,216,638 (GRCm39) missense probably damaging 1.00
R7981:Mbl2 UTSW 19 30,216,737 (GRCm39) missense probably damaging 1.00
R8417:Mbl2 UTSW 19 30,216,884 (GRCm39) missense probably damaging 1.00
R9320:Mbl2 UTSW 19 30,216,741 (GRCm39) missense probably damaging 1.00
R9499:Mbl2 UTSW 19 30,216,664 (GRCm39) missense probably damaging 1.00
Z1177:Mbl2 UTSW 19 30,211,397 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17