Incidental Mutation 'R7267:Man2b1'
ID 564998
Institutional Source Beutler Lab
Gene Symbol Man2b1
Ensembl Gene ENSMUSG00000005142
Gene Name mannosidase 2, alpha B1
Synonyms lysosomal alpha-mannosidase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 85809899-85824911 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85813804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 256 (V256E)
Ref Sequence ENSEMBL: ENSMUSP00000034121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000079764] [ENSMUST00000140621] [ENSMUST00000209264] [ENSMUST00000209361]
AlphaFold O09159
Predicted Effect probably damaging
Transcript: ENSMUST00000034121
AA Change: V256E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: V256E

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: ENSMUST00000079764
SMART Domains Protein: ENSMUSP00000078697
Gene: ENSMUSG00000059355

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
Pfam:UPF0139 85 183 6.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140621
SMART Domains Protein: ENSMUSP00000117962
Gene: ENSMUSG00000059355

DomainStartEndE-ValueType
Pfam:UPF0139 5 88 1.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209264
Predicted Effect probably benign
Transcript: ENSMUST00000209361
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,916,205 (GRCm39) I37T probably damaging Het
Ackr2 A G 9: 121,737,874 (GRCm39) Y83C probably damaging Het
Adam19 C T 11: 46,012,403 (GRCm39) Q300* probably null Het
Anxa7 C T 14: 20,519,474 (GRCm39) A115T probably benign Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Atad2b A T 12: 5,077,105 (GRCm39) R1109* probably null Het
Batf2 A G 19: 6,221,396 (GRCm39) T69A probably benign Het
Best1 A G 19: 9,964,177 (GRCm39) C428R probably benign Het
Birc6 A G 17: 74,892,980 (GRCm39) T973A probably benign Het
Bmp2k C T 5: 97,216,293 (GRCm39) T597I unknown Het
Bmpr1a G A 14: 34,165,836 (GRCm39) P57L possibly damaging Het
Camk2d A T 3: 126,591,379 (GRCm39) H283L possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ces1b C A 8: 93,806,132 (GRCm39) K36N possibly damaging Het
Ces2a T A 8: 105,465,672 (GRCm39) M308K probably benign Het
Ctnnd2 C A 15: 30,683,501 (GRCm39) Q501K probably benign Het
Cyb561d1 T C 3: 108,106,629 (GRCm39) T197A probably benign Het
Dedd2 C A 7: 24,918,391 (GRCm39) A55S probably damaging Het
Dnah2 C T 11: 69,391,643 (GRCm39) R684Q probably damaging Het
Elovl3 A G 19: 46,122,979 (GRCm39) Y185C probably damaging Het
Fgf3 C T 7: 144,392,569 (GRCm39) A42V probably damaging Het
Gabra5 A G 7: 57,140,529 (GRCm39) L56P probably damaging Het
Gm19410 T G 8: 36,281,997 (GRCm39) V1860G possibly damaging Het
Gm21663 G T 5: 26,143,751 (GRCm39) N190K probably damaging Het
Grm3 T A 5: 9,639,581 (GRCm39) I155L probably benign Het
Hadha A G 5: 30,327,755 (GRCm39) I495T probably damaging Het
Herc4 C T 10: 63,109,365 (GRCm39) A200V possibly damaging Het
Itga3 C A 11: 94,967,188 (GRCm39) probably benign Het
Krt6a C T 15: 101,602,289 (GRCm39) S132N probably benign Het
Lpar1 T C 4: 58,486,857 (GRCm39) N138S possibly damaging Het
Lrrc42 T A 4: 107,096,983 (GRCm39) T247S probably damaging Het
Map3k4 G T 17: 12,490,536 (GRCm39) Y298* probably null Het
Mars1 A G 10: 127,144,455 (GRCm39) V195A probably benign Het
Mdm4 A T 1: 132,922,311 (GRCm39) V278E probably benign Het
Mdp1 A G 14: 55,897,544 (GRCm39) V37A probably damaging Het
Med13 A G 11: 86,199,652 (GRCm39) I685T probably benign Het
Mobp A G 9: 119,996,914 (GRCm39) N15S probably damaging Het
Nbn T A 4: 15,979,320 (GRCm39) M435K probably benign Het
Nfs1 A G 2: 155,965,703 (GRCm39) V126A probably benign Het
Npepl1 T A 2: 173,963,909 (GRCm39) V480E probably damaging Het
Nr2e3 G A 9: 59,855,972 (GRCm39) S155F possibly damaging Het
Oplah T C 15: 76,189,209 (GRCm39) D278G probably benign Het
Or4c124 A T 2: 89,156,157 (GRCm39) Y122* probably null Het
Or51q1c A G 7: 103,653,046 (GRCm39) H188R probably benign Het
Pard3 T C 8: 128,098,056 (GRCm39) Y366H probably damaging Het
Pcdhb11 A G 18: 37,555,006 (GRCm39) N112S possibly damaging Het
Pde11a A G 2: 76,168,189 (GRCm39) S255P probably damaging Het
Piezo1 T C 8: 123,224,268 (GRCm39) H745R Het
Pkn2 A T 3: 142,517,776 (GRCm39) S441T possibly damaging Het
Pld1 A C 3: 28,130,550 (GRCm39) H450P probably damaging Het
Plekhs1 T A 19: 56,459,209 (GRCm39) H22Q probably damaging Het
Prss44 A C 9: 110,645,611 (GRCm39) Y285S probably damaging Het
Qpctl T C 7: 18,878,852 (GRCm39) E249G probably benign Het
Rcsd1 A T 1: 165,491,185 (GRCm39) S50T probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scube1 T A 15: 83,505,266 (GRCm39) N496Y probably damaging Het
Skic3 A G 13: 76,328,196 (GRCm39) M1415V probably benign Het
Slc16a8 AGGCC A 15: 79,136,125 (GRCm39) probably null Het
Slc38a4 T A 15: 96,903,781 (GRCm39) T407S probably benign Het
Slc51a T G 16: 32,298,590 (GRCm39) I56L probably benign Het
Slc6a18 T G 13: 73,819,755 (GRCm39) I272L probably damaging Het
Sorl1 A G 9: 42,035,375 (GRCm39) L12P possibly damaging Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Syne1 C T 10: 5,178,218 (GRCm39) R4752Q probably damaging Het
Tbc1d9 C A 8: 83,997,957 (GRCm39) H1171Q probably damaging Het
Thsd1 G A 8: 22,733,597 (GRCm39) V215I probably benign Het
Tmem143 T A 7: 45,557,598 (GRCm39) M208K probably benign Het
Tmem63b C T 17: 45,977,048 (GRCm39) V440I probably benign Het
Tnik A T 3: 28,700,776 (GRCm39) S918C probably damaging Het
Ttn A G 2: 76,733,751 (GRCm39) I4508T unknown Het
Vav2 A G 2: 27,173,334 (GRCm39) F497L probably damaging Het
Zc3h14 G A 12: 98,751,988 (GRCm39) R730Q probably damaging Het
Zfp560 G A 9: 20,259,384 (GRCm39) H493Y probably 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
R0727:Man2b1 UTSW 8 85,818,155 (GRCm39) missense probably damaging 1.00
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
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'- GCTGCTGACCTCTTTACTGG -3'
(R):5'- TGGACTGTCATCTGGATAGCTAC -3'

Sequencing Primer
(F):5'- CTGCTGACCTCTTTACTGGTAAGAG -3'
(R):5'- CATCTGGATAGCTACATTACCTGGG -3'
Posted On 2019-06-26