Incidental Mutation 'R0727:Man2b1'
ID 200651
Institutional Source Beutler Lab
Gene Symbol Man2b1
Ensembl Gene ENSMUSG00000005142
Gene Name mannosidase 2, alpha B1
Synonyms lysosomal alpha-mannosidase
MMRRC Submission 038909-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0727 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 85809899-85824911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 85818155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 442 (V442G)
Ref Sequence ENSEMBL: ENSMUSP00000034121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000209361]
AlphaFold O09159
Predicted Effect probably damaging
Transcript: ENSMUST00000034121
AA Change: V442G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: V442G

DomainStartEndE-ValueType
low complexity region 40 51 N/A INTRINSIC
Pfam:Glyco_hydro_38 64 381 2.7e-96 PFAM
Alpha-mann_mid 386 465 4.25e-23 SMART
Pfam:Glyco_hydro_38C 510 1002 6.2e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211379
Meta Mutation Damage Score 0.7642 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,016,937 (GRCm39) V83A possibly damaging Het
Adam2 A G 14: 66,267,180 (GRCm39) I693T probably damaging Het
Adamts1 T C 16: 85,595,536 (GRCm39) D214G possibly damaging Het
Atp6v1h T A 1: 5,154,781 (GRCm39) Y36* probably null Het
Cacna1d A G 14: 29,852,072 (GRCm39) probably null Het
Catsperb G T 12: 101,560,614 (GRCm39) probably null Het
Ccdc88b T C 19: 6,831,582 (GRCm39) M482V probably benign Het
Cemip T C 7: 83,610,786 (GRCm39) K723E probably benign Het
Cep112 G A 11: 108,397,380 (GRCm39) R375H probably damaging Het
Cpne7 T C 8: 123,853,025 (GRCm39) S211P probably damaging Het
Csde1 A G 3: 102,950,954 (GRCm39) T191A probably benign Het
Dapk3 A G 10: 81,026,096 (GRCm39) Y129C probably damaging Het
Dlc1 A G 8: 37,039,828 (GRCm39) V1027A probably damaging Het
Ergic2 T A 6: 148,100,898 (GRCm39) probably benign Het
Evpl T C 11: 116,123,311 (GRCm39) H307R probably damaging Het
Faah A G 4: 115,862,257 (GRCm39) I242T probably damaging Het
Farsa T A 8: 85,587,933 (GRCm39) probably null Het
Fat3 A C 9: 15,907,995 (GRCm39) L2669R probably damaging Het
Fgfr4 C A 13: 55,304,041 (GRCm39) probably null Het
Gnl3 A G 14: 30,739,034 (GRCm39) S55P probably damaging Het
Grhl3 T A 4: 135,273,565 (GRCm39) K562N possibly damaging Het
H2bl1 A G 13: 99,120,735 (GRCm39) V97A probably benign Het
Hoxa9 A G 6: 52,201,294 (GRCm39) V249A probably damaging Het
Hyal1 T C 9: 107,455,601 (GRCm39) S304P possibly damaging Het
Igf1r T C 7: 67,861,906 (GRCm39) probably null Het
Kif3c A G 12: 3,416,776 (GRCm39) T266A probably benign Het
Lrp1b T C 2: 40,640,956 (GRCm39) D3496G probably benign Het
Mast1 T C 8: 85,648,044 (GRCm39) Y479C probably damaging Het
Mei1 A G 15: 81,954,350 (GRCm39) T52A probably benign Het
Micall1 A G 15: 79,004,978 (GRCm39) D150G probably benign Het
Muc4 A G 16: 32,590,221 (GRCm39) M2927V probably benign Het
Obi1 G C 14: 104,717,624 (GRCm39) L250V probably damaging Het
Or11h6 G T 14: 50,880,460 (GRCm39) V241L probably damaging Het
Or56b1b C T 7: 108,164,315 (GRCm39) R229H probably benign Het
Or5an10 T C 19: 12,276,458 (GRCm39) I13V probably benign Het
Or5w22 T A 2: 87,363,245 (GRCm39) Y289* probably null Het
Or8k27 T C 2: 86,276,282 (GRCm39) M15V probably benign Het
Or8k35 A T 2: 86,424,724 (GRCm39) Y149* probably null Het
Pabpc2 A C 18: 39,908,187 (GRCm39) Q484P probably benign Het
Pbld2 T A 10: 62,903,298 (GRCm39) V125D probably benign Het
Pkhd1l1 A G 15: 44,399,184 (GRCm39) T2083A possibly damaging Het
Pum2 A G 12: 8,794,465 (GRCm39) E785G probably damaging Het
Qser1 A G 2: 104,607,656 (GRCm39) probably benign Het
R3hcc1l A G 19: 42,564,514 (GRCm39) D29G probably damaging Het
Rabep1 T A 11: 70,791,318 (GRCm39) Y180* probably null Het
Rassf5 T C 1: 131,109,002 (GRCm39) S140G probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Resf1 A G 6: 149,227,320 (GRCm39) N122S possibly damaging Het
Rfpl4 T A 7: 5,118,292 (GRCm39) I93L probably benign Het
Ryr2 C T 13: 11,581,771 (GRCm39) G4798D probably damaging Het
Scaf11 G A 15: 96,317,324 (GRCm39) P747S probably damaging Het
Sgo2b T G 8: 64,380,816 (GRCm39) K672T probably damaging Het
Smg1 T C 7: 117,765,645 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Ssh3 G T 19: 4,314,019 (GRCm39) H439Q probably damaging Het
Steap3 T A 1: 120,155,547 (GRCm39) T471S possibly damaging Het
Stk33 T A 7: 108,920,725 (GRCm39) I208L probably damaging Het
Sucnr1 A G 3: 59,994,081 (GRCm39) Y203C probably benign Het
Tlr11 T C 14: 50,598,926 (GRCm39) I304T possibly damaging Het
Top2a A T 11: 98,902,974 (GRCm39) C404* probably null Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
Zcwpw1 T C 5: 137,809,069 (GRCm39) probably benign Het
Zfhx4 A T 3: 5,466,133 (GRCm39) H2097L probably damaging Het
Zfp874b T C 13: 67,622,831 (GRCm39) K156E probably damaging Het
Zfyve16 T C 13: 92,630,386 (GRCm39) K1413E possibly damaging Het
Other mutations in Man2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Man2b1 APN 8 85,811,267 (GRCm39) splice site probably null
IGL00671:Man2b1 APN 8 85,820,567 (GRCm39) missense probably damaging 0.98
IGL01538:Man2b1 APN 8 85,824,059 (GRCm39) missense probably benign 0.00
dateline UTSW 8 85,811,366 (GRCm39) missense probably damaging 1.00
greenwich UTSW 8 85,812,085 (GRCm39) nonsense probably null
longitude UTSW 8 85,821,773 (GRCm39) nonsense probably null
meridian UTSW 8 85,823,381 (GRCm39) missense probably damaging 1.00
R0018:Man2b1 UTSW 8 85,824,118 (GRCm39) missense probably damaging 1.00
R0302:Man2b1 UTSW 8 85,819,645 (GRCm39) missense probably damaging 1.00
R0574:Man2b1 UTSW 8 85,823,405 (GRCm39) missense probably benign
R0837:Man2b1 UTSW 8 85,823,458 (GRCm39) missense possibly damaging 0.92
R1087:Man2b1 UTSW 8 85,821,800 (GRCm39) missense probably damaging 1.00
R1471:Man2b1 UTSW 8 85,813,474 (GRCm39) missense probably damaging 0.99
R1745:Man2b1 UTSW 8 85,820,563 (GRCm39) missense probably damaging 1.00
R1903:Man2b1 UTSW 8 85,813,451 (GRCm39) missense probably damaging 1.00
R2026:Man2b1 UTSW 8 85,821,964 (GRCm39) missense probably damaging 0.99
R2071:Man2b1 UTSW 8 85,812,013 (GRCm39) missense possibly damaging 0.90
R2120:Man2b1 UTSW 8 85,819,653 (GRCm39) splice site probably benign
R3897:Man2b1 UTSW 8 85,823,577 (GRCm39) splice site probably benign
R3971:Man2b1 UTSW 8 85,812,020 (GRCm39) missense probably damaging 0.98
R3972:Man2b1 UTSW 8 85,812,020 (GRCm39) missense probably damaging 0.98
R4096:Man2b1 UTSW 8 85,811,366 (GRCm39) missense probably damaging 1.00
R4497:Man2b1 UTSW 8 85,817,565 (GRCm39) missense probably benign 0.22
R5183:Man2b1 UTSW 8 85,822,413 (GRCm39) missense probably damaging 1.00
R5191:Man2b1 UTSW 8 85,811,088 (GRCm39) missense probably damaging 1.00
R5644:Man2b1 UTSW 8 85,820,839 (GRCm39) missense possibly damaging 0.61
R6027:Man2b1 UTSW 8 85,823,381 (GRCm39) missense probably damaging 1.00
R6291:Man2b1 UTSW 8 85,823,675 (GRCm39) missense probably benign 0.44
R6341:Man2b1 UTSW 8 85,822,028 (GRCm39) missense probably damaging 1.00
R6467:Man2b1 UTSW 8 85,824,076 (GRCm39) missense possibly damaging 0.91
R6622:Man2b1 UTSW 8 85,811,108 (GRCm39) missense probably damaging 1.00
R6624:Man2b1 UTSW 8 85,823,482 (GRCm39) missense probably benign 0.01
R6631:Man2b1 UTSW 8 85,813,440 (GRCm39) splice site probably null
R6828:Man2b1 UTSW 8 85,813,548 (GRCm39) missense possibly damaging 0.88
R6983:Man2b1 UTSW 8 85,817,700 (GRCm39) splice site probably null
R7159:Man2b1 UTSW 8 85,813,909 (GRCm39) missense probably benign 0.09
R7267:Man2b1 UTSW 8 85,813,804 (GRCm39) missense probably damaging 1.00
R7537:Man2b1 UTSW 8 85,817,594 (GRCm39) nonsense probably null
R7786:Man2b1 UTSW 8 85,812,085 (GRCm39) nonsense probably null
R8022:Man2b1 UTSW 8 85,822,242 (GRCm39) missense probably damaging 1.00
R8069:Man2b1 UTSW 8 85,823,674 (GRCm39) missense probably benign 0.03
R8251:Man2b1 UTSW 8 85,821,758 (GRCm39) missense probably damaging 0.99
R8406:Man2b1 UTSW 8 85,822,907 (GRCm39) missense probably damaging 1.00
R8464:Man2b1 UTSW 8 85,820,772 (GRCm39) missense possibly damaging 0.55
R8701:Man2b1 UTSW 8 85,821,782 (GRCm39) missense probably damaging 1.00
R8792:Man2b1 UTSW 8 85,821,773 (GRCm39) nonsense probably null
R8891:Man2b1 UTSW 8 85,811,084 (GRCm39) missense probably damaging 1.00
R8930:Man2b1 UTSW 8 85,822,022 (GRCm39) missense probably damaging 1.00
R8932:Man2b1 UTSW 8 85,822,022 (GRCm39) missense probably damaging 1.00
R8953:Man2b1 UTSW 8 85,818,539 (GRCm39) missense probably benign 0.36
R9059:Man2b1 UTSW 8 85,818,155 (GRCm39) missense probably damaging 1.00
Z1176:Man2b1 UTSW 8 85,820,567 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACAGCGCACCTCTTCGTAAGTGTC -3'
(R):5'- CCACCCTTCTTTCCCAAGAATGGAC -3'

Sequencing Primer
(F):5'- TCGTAAGTGTCATCTGTTGACC -3'
(R):5'- TTTCCCAAGAATGGACCCCTC -3'
Posted On 2014-05-23