Incidental Mutation 'R8417:Mbl2'
ID 653017
Institutional Source Beutler Lab
Gene Symbol Mbl2
Ensembl Gene ENSMUSG00000024863
Gene Name mannose-binding lectin (protein C) 2
Synonyms MBL, MBL-C, MBP-C
MMRRC Submission 067771-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8417 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 30210342-30217087 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30216884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 232 (C232F)
Ref Sequence ENSEMBL: ENSMUSP00000025797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025797]
AlphaFold P41317
Predicted Effect probably damaging
Transcript: ENSMUST00000025797
AA Change: C232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025797
Gene: ENSMUSG00000024863
AA Change: C232F

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T C 9: 21,440,381 (GRCm39) probably null Het
Adamtsl1 G A 4: 86,074,926 (GRCm39) D98N possibly damaging Het
Adgrb3 T C 1: 25,527,134 (GRCm39) T601A probably benign Het
Ankrd33 C A 15: 101,017,330 (GRCm39) Q248K probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Casp12 G T 9: 5,352,263 (GRCm39) C155F probably benign Het
Ccn6 T A 10: 39,027,207 (GRCm39) R342* probably null Het
Clpp T C 17: 57,297,661 (GRCm39) V81A probably benign Het
Cyp3a59 A T 5: 146,027,495 (GRCm39) I89F possibly damaging Het
Fam227b C A 2: 125,962,982 (GRCm39) W178L probably damaging Het
Fcna C A 2: 25,514,863 (GRCm39) R332L probably damaging Het
Gdf3 T G 6: 122,583,566 (GRCm39) H267P probably damaging Het
Gm5592 A G 7: 40,937,975 (GRCm39) D419G probably benign Het
Gm6882 A G 7: 21,161,220 (GRCm39) V216A probably damaging Het
Gsdma3 A G 11: 98,520,603 (GRCm39) N78S probably benign Het
Hsd3b9 G A 3: 98,363,731 (GRCm39) T38I probably benign Het
Hydin T C 8: 111,296,024 (GRCm39) I3579T probably benign Het
Ighmbp2 T C 19: 3,311,590 (GRCm39) I942V probably damaging Het
Lamc1 A G 1: 153,106,515 (GRCm39) Y1266H probably damaging Het
Lgi3 T C 14: 70,772,246 (GRCm39) Y264H probably benign Het
Lmod2 G A 6: 24,603,384 (GRCm39) E120K possibly damaging Het
Morc1 T C 16: 48,281,103 (GRCm39) V214A probably damaging Het
Nlrp4b T A 7: 10,459,880 (GRCm39) C827* probably null Het
Or12k5 T A 2: 36,894,658 (GRCm39) T323S probably benign Het
Or5t7 A G 2: 86,507,149 (GRCm39) F176S probably damaging Het
Pbrm1 T A 14: 30,749,419 (GRCm39) H72Q possibly damaging Het
Plekhm2 T C 4: 141,355,136 (GRCm39) I944V probably benign Het
Prdm8 A T 5: 98,332,390 (GRCm39) D97V probably damaging Het
Preb G A 5: 31,117,461 (GRCm39) probably benign Het
Prkcd T C 14: 30,331,208 (GRCm39) K56E probably benign Het
Slit3 A T 11: 35,501,438 (GRCm39) I391F probably damaging Het
Spata19 A G 9: 27,309,266 (GRCm39) S91G probably benign Het
Stag3 A G 5: 138,306,850 (GRCm39) T1134A probably benign Het
Tgfbr2 A T 9: 115,939,197 (GRCm39) M235K probably benign Het
Tmtc2 A T 10: 105,249,097 (GRCm39) I212N probably damaging Het
Tnfrsf26 C T 7: 143,168,639 (GRCm39) R133K probably benign Het
Trim43c C A 9: 88,725,191 (GRCm39) Q238K probably benign Het
Vcan T C 13: 89,836,862 (GRCm39) D2894G probably benign Het
Zeb2 C T 2: 44,913,008 (GRCm39) S105N probably damaging Het
Other mutations in Mbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Mbl2 APN 19 30,215,794 (GRCm39) missense possibly damaging 0.70
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
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
Predicted Primers PCR Primer
(F):5'- TTGACAGAGTGAAGGCCCTG -3'
(R):5'- CCTTCACAAGAGAATGCATTGGG -3'

Sequencing Primer
(F):5'- TCCGAATTCCAGGGCTCTGTG -3'
(R):5'- CGTCAGGAGTACCCTAAAGA -3'
Posted On 2020-10-20