Incidental Mutation 'R6669:Man2b2'
ID 528050
Institutional Source Beutler Lab
Gene Symbol Man2b2
Ensembl Gene ENSMUSG00000029119
Gene Name mannosidase 2, alpha B2
Synonyms 135 kDa alpha-D-mannosidase
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6669 (G1)
Quality Score 155.008
Status Validated
Chromosome 5
Chromosomal Location 36964265-36987997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36967702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 889 (I889V)
Ref Sequence ENSEMBL: ENSMUSP00000031002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031002]
AlphaFold O54782
Predicted Effect probably benign
Transcript: ENSMUST00000031002
AA Change: I889V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: I889V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Glyco_hydro_38 28 351 4e-100 PFAM
Alpha-mann_mid 356 439 3.3e-20 SMART
Pfam:Glyco_hydro_38C 487 1013 2e-98 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000124711
AA Change: D451G
SMART Domains Protein: ENSMUSP00000115495
Gene: ENSMUSG00000029119
AA Change: D451G

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38C 67 469 2.5e-80 PFAM
low complexity region 483 493 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000147893
AA Change: I23V
SMART Domains Protein: ENSMUSP00000114319
Gene: ENSMUSG00000029119
AA Change: I23V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38C 2 86 4.2e-8 PFAM
Meta Mutation Damage Score 0.1286 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging Het
Other mutations in Man2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Man2b2 APN 5 36,973,487 (GRCm39) nonsense probably null
IGL01098:Man2b2 APN 5 36,972,900 (GRCm39) missense probably damaging 1.00
IGL01367:Man2b2 APN 5 36,971,681 (GRCm39) nonsense probably null
IGL01781:Man2b2 APN 5 36,971,089 (GRCm39) missense possibly damaging 0.80
IGL01809:Man2b2 APN 5 36,971,860 (GRCm39) missense probably benign 0.01
IGL02824:Man2b2 APN 5 36,979,195 (GRCm39) missense probably benign 0.09
IGL03323:Man2b2 APN 5 36,975,858 (GRCm39) missense probably benign 0.07
IGL03333:Man2b2 APN 5 36,973,483 (GRCm39) missense probably damaging 0.96
R0505:Man2b2 UTSW 5 36,973,542 (GRCm39) missense probably benign 0.00
R0715:Man2b2 UTSW 5 36,983,402 (GRCm39) missense probably benign 0.00
R1435:Man2b2 UTSW 5 36,970,411 (GRCm39) missense probably damaging 0.98
R1536:Man2b2 UTSW 5 36,978,271 (GRCm39) missense probably benign 0.10
R1944:Man2b2 UTSW 5 36,973,524 (GRCm39) missense probably benign
R2079:Man2b2 UTSW 5 36,971,716 (GRCm39) missense possibly damaging 0.64
R2475:Man2b2 UTSW 5 36,965,219 (GRCm39) missense probably benign 0.01
R2924:Man2b2 UTSW 5 36,981,446 (GRCm39) missense probably benign 0.01
R2925:Man2b2 UTSW 5 36,981,446 (GRCm39) missense probably benign 0.01
R2938:Man2b2 UTSW 5 36,978,330 (GRCm39) missense probably benign 0.27
R3777:Man2b2 UTSW 5 36,972,871 (GRCm39) missense probably benign 0.00
R3778:Man2b2 UTSW 5 36,972,871 (GRCm39) missense probably benign 0.00
R3982:Man2b2 UTSW 5 36,971,164 (GRCm39) missense probably benign 0.10
R4618:Man2b2 UTSW 5 36,974,983 (GRCm39) missense probably benign 0.06
R4822:Man2b2 UTSW 5 36,972,865 (GRCm39) missense probably damaging 1.00
R5320:Man2b2 UTSW 5 36,967,677 (GRCm39) missense probably damaging 1.00
R5394:Man2b2 UTSW 5 36,971,862 (GRCm39) missense probably benign 0.03
R5468:Man2b2 UTSW 5 36,964,519 (GRCm39) missense probably benign 0.00
R5993:Man2b2 UTSW 5 36,978,324 (GRCm39) missense probably benign 0.12
R6053:Man2b2 UTSW 5 36,970,382 (GRCm39) missense probably benign 0.00
R6083:Man2b2 UTSW 5 36,966,385 (GRCm39) missense probably damaging 1.00
R6376:Man2b2 UTSW 5 36,978,378 (GRCm39) missense probably damaging 1.00
R7000:Man2b2 UTSW 5 36,979,213 (GRCm39) missense probably damaging 1.00
R7108:Man2b2 UTSW 5 36,972,829 (GRCm39) missense probably benign 0.04
R7376:Man2b2 UTSW 5 36,970,722 (GRCm39) missense probably damaging 1.00
R7478:Man2b2 UTSW 5 36,967,657 (GRCm39) missense probably damaging 1.00
R7712:Man2b2 UTSW 5 36,967,658 (GRCm39) missense probably benign 0.00
R8059:Man2b2 UTSW 5 36,973,504 (GRCm39) missense probably damaging 1.00
R8471:Man2b2 UTSW 5 36,979,183 (GRCm39) missense probably damaging 1.00
R8729:Man2b2 UTSW 5 36,973,462 (GRCm39) missense probably benign 0.25
R9341:Man2b2 UTSW 5 36,975,951 (GRCm39) missense probably damaging 1.00
R9343:Man2b2 UTSW 5 36,975,951 (GRCm39) missense probably damaging 1.00
R9421:Man2b2 UTSW 5 36,978,271 (GRCm39) missense probably benign 0.10
X0022:Man2b2 UTSW 5 36,971,236 (GRCm39) missense probably damaging 0.99
Z1088:Man2b2 UTSW 5 36,972,700 (GRCm39) missense possibly damaging 0.46
Z1177:Man2b2 UTSW 5 36,971,141 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCTCCTAGATGACAGATGAG -3'
(R):5'- ATGTGTCGAGAGCAGCTTGG -3'

Sequencing Primer
(F):5'- CTCCTAGATGACAGATGAGGGGAC -3'
(R):5'- GGCCTGAGGTGTGAACC -3'
Posted On 2018-07-24