Incidental Mutation 'IGL01098:Man2b2'
ID 51101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man2b2
Ensembl Gene ENSMUSG00000029119
Gene Name mannosidase 2, alpha B2
Synonyms 135 kDa alpha-D-mannosidase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01098
Quality Score
Status
Chromosome 5
Chromosomal Location 36964265-36987997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36972900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 538 (L538Q)
Ref Sequence ENSEMBL: ENSMUSP00000031002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031002]
AlphaFold O54782
Predicted Effect probably damaging
Transcript: ENSMUST00000031002
AA Change: L538Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: L538Q

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: L117Q
SMART Domains Protein: ENSMUSP00000115495
Gene: ENSMUSG00000029119
AA Change: L117Q

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

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38C 2 86 4.2e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,453 (GRCm39) D75G possibly damaging Het
Brip1 G T 11: 85,999,688 (GRCm39) R765S possibly damaging Het
Btbd16 T C 7: 130,424,975 (GRCm39) I452T probably damaging Het
Cdc42ep4 T G 11: 113,620,328 (GRCm39) D21A probably damaging Het
Cdx2 T A 5: 147,243,792 (GRCm39) M1L possibly damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Csmd2 C T 4: 127,952,845 (GRCm39) T98M probably damaging Het
Cyp26a1 A T 19: 37,688,450 (GRCm39) Q324L probably benign Het
Etaa1 A G 11: 17,896,059 (GRCm39) V686A probably damaging Het
Gpr6 G A 10: 40,946,739 (GRCm39) T281I probably damaging Het
Herc1 T A 9: 66,369,204 (GRCm39) probably null Het
Lama2 A T 10: 26,907,108 (GRCm39) I2351N possibly damaging Het
Lman1 A G 18: 66,124,711 (GRCm39) F343L probably damaging Het
Lmo1 A G 7: 108,742,657 (GRCm39) probably benign Het
Lrrc17 T A 5: 21,780,269 (GRCm39) F414L probably benign Het
Map3k9 A G 12: 81,770,928 (GRCm39) S910P probably damaging Het
Mapk1ip1 G A 7: 138,438,191 (GRCm39) P80S probably damaging Het
Mindy4 G T 6: 55,261,727 (GRCm39) probably benign Het
Msh4 A T 3: 153,583,619 (GRCm39) probably benign Het
Mta2 A G 19: 8,924,081 (GRCm39) D187G probably damaging Het
Olfml2a A G 2: 38,837,226 (GRCm39) probably null Het
Pink1 A T 4: 138,047,408 (GRCm39) probably null Het
Plekha6 T C 1: 133,209,903 (GRCm39) F575L possibly damaging Het
Rpe C A 1: 66,745,674 (GRCm39) D71E probably benign Het
Slc5a7 C T 17: 54,599,988 (GRCm39) A142T probably benign Het
Sptbn1 C T 11: 30,109,385 (GRCm39) R70K probably damaging Het
Taf1c G T 8: 120,329,580 (GRCm39) Q159K probably damaging Het
Tgfb1i1 T C 7: 127,851,693 (GRCm39) F311S probably damaging Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmed8 G T 12: 87,223,445 (GRCm39) A98E probably benign Het
Tmem200a A G 10: 25,870,041 (GRCm39) I76T probably damaging Het
Vmn2r104 T C 17: 20,268,358 (GRCm39) E37G probably benign Het
Vmn2r18 A T 5: 151,496,296 (GRCm39) V474E probably damaging Het
Vps52 C T 17: 34,181,704 (GRCm39) T510I possibly damaging Het
Wwox G T 8: 115,172,118 (GRCm39) G71* probably null Het
Zer1 C T 2: 29,998,232 (GRCm39) probably null Het
Zfp296 A T 7: 19,311,845 (GRCm39) K117N possibly damaging Het
Other mutations in Man2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Man2b2 APN 5 36,973,487 (GRCm39) nonsense probably null
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
R6669:Man2b2 UTSW 5 36,967,702 (GRCm39) missense probably benign 0.00
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
Posted On 2013-06-21