Incidental Mutation 'IGL03333:Man2b2'
ID416928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man2b2
Ensembl Gene ENSMUSG00000029119
Gene Namemannosidase 2, alpha B2
Synonyms135 kDa alpha-D-mannosidase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03333
Quality Score
Status
Chromosome5
Chromosomal Location36806921-36830653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36816139 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 499 (I499F)
Ref Sequence ENSEMBL: ENSMUSP00000031002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031002]
Predicted Effect probably damaging
Transcript: ENSMUST00000031002
AA Change: I499F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: I499F

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: I78F
SMART Domains Protein: ENSMUSP00000115495
Gene: ENSMUSG00000029119
AA Change: I78F

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
Arhgap39 T C 15: 76,726,732 M893V probably benign Het
Ccdc185 C A 1: 182,748,833 G97V probably damaging Het
Cep170 T C 1: 176,769,526 T422A possibly damaging Het
Ckap2l A C 2: 129,296,308 probably null Het
Cpa3 A G 3: 20,215,828 Y411H possibly damaging Het
Dnah2 C A 11: 69,495,123 R1011L probably damaging Het
Efnb2 T A 8: 8,639,275 K30* probably null Het
Ep400 C T 5: 110,703,566 R1350H unknown Het
Epha6 T C 16: 59,682,688 D952G probably damaging Het
Exoc7 C A 11: 116,301,161 V195L probably benign Het
Fbxw8 T C 5: 118,095,595 M324V possibly damaging Het
Fchsd2 T C 7: 101,198,496 S198P probably damaging Het
Gcdh T C 8: 84,891,071 T202A probably benign Het
Gm6619 G A 6: 131,490,508 probably benign Het
Itpr1 A T 6: 108,380,910 probably benign Het
Kif2c A C 4: 117,180,636 V31G possibly damaging Het
Kpna7 T C 5: 145,005,955 I74V possibly damaging Het
Lvrn G A 18: 46,864,664 probably benign Het
Mmd2 G T 5: 142,567,938 probably benign Het
Olfr449 T A 6: 42,838,703 I274N possibly damaging Het
Olfr458 T C 6: 42,460,839 Y60C probably damaging Het
Olfr746 C T 14: 50,653,398 Q54* probably null Het
Olfr971 T A 9: 39,840,012 Y193N probably damaging Het
Parp14 A G 16: 35,841,430 S1412P probably benign Het
Prr30 A T 14: 101,198,391 V245E possibly damaging Het
Ros1 T A 10: 52,155,171 D458V probably damaging Het
Sec22c A G 9: 121,688,218 L138P probably damaging Het
Sema6d C A 2: 124,664,370 H699Q possibly damaging Het
Spata17 A T 1: 187,140,470 M1K probably null Het
Tpr T A 1: 150,426,967 D1331E probably benign Het
Ttc4 A G 4: 106,676,631 Y120H probably benign Het
Tubgcp4 A G 2: 121,196,173 probably null Het
Usp19 T A 9: 108,494,149 M285K probably benign Het
Vmn1r222 A T 13: 23,233,007 F12Y probably benign Het
Vmn2r72 T C 7: 85,750,867 K325E probably benign Het
Vps33b T C 7: 80,274,225 probably benign Het
Zfp784 C T 7: 5,036,352 probably benign Het
Other mutations in Man2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Man2b2 APN 5 36816143 nonsense probably null
IGL01098:Man2b2 APN 5 36815556 missense probably damaging 1.00
IGL01367:Man2b2 APN 5 36814337 nonsense probably null
IGL01781:Man2b2 APN 5 36813745 missense possibly damaging 0.80
IGL01809:Man2b2 APN 5 36814516 missense probably benign 0.01
IGL02824:Man2b2 APN 5 36821851 missense probably benign 0.09
IGL03323:Man2b2 APN 5 36818514 missense probably benign 0.07
R0505:Man2b2 UTSW 5 36816198 missense probably benign 0.00
R0715:Man2b2 UTSW 5 36826058 missense probably benign 0.00
R1435:Man2b2 UTSW 5 36813067 missense probably damaging 0.98
R1536:Man2b2 UTSW 5 36820927 missense probably benign 0.10
R1944:Man2b2 UTSW 5 36816180 missense probably benign
R2079:Man2b2 UTSW 5 36814372 missense possibly damaging 0.64
R2475:Man2b2 UTSW 5 36807875 missense probably benign 0.01
R2924:Man2b2 UTSW 5 36824102 missense probably benign 0.01
R2925:Man2b2 UTSW 5 36824102 missense probably benign 0.01
R2938:Man2b2 UTSW 5 36820986 missense probably benign 0.27
R3777:Man2b2 UTSW 5 36815527 missense probably benign 0.00
R3778:Man2b2 UTSW 5 36815527 missense probably benign 0.00
R3982:Man2b2 UTSW 5 36813820 missense probably benign 0.10
R4618:Man2b2 UTSW 5 36817639 missense probably benign 0.06
R4822:Man2b2 UTSW 5 36815521 missense probably damaging 1.00
R5320:Man2b2 UTSW 5 36810333 missense probably damaging 1.00
R5394:Man2b2 UTSW 5 36814518 missense probably benign 0.03
R5468:Man2b2 UTSW 5 36807175 missense probably benign 0.00
R5993:Man2b2 UTSW 5 36820980 missense probably benign 0.12
R6053:Man2b2 UTSW 5 36813038 missense probably benign 0.00
R6083:Man2b2 UTSW 5 36809041 missense probably damaging 1.00
R6376:Man2b2 UTSW 5 36821034 missense probably damaging 1.00
R6669:Man2b2 UTSW 5 36810358 missense probably benign 0.00
R7000:Man2b2 UTSW 5 36821869 missense probably damaging 1.00
R7108:Man2b2 UTSW 5 36815485 missense probably benign 0.04
R7376:Man2b2 UTSW 5 36813378 missense probably damaging 1.00
R7478:Man2b2 UTSW 5 36810313 missense probably damaging 1.00
R7712:Man2b2 UTSW 5 36810314 missense probably benign 0.00
R8059:Man2b2 UTSW 5 36816160 missense probably damaging 1.00
X0022:Man2b2 UTSW 5 36813892 missense probably damaging 0.99
Z1088:Man2b2 UTSW 5 36815356 missense possibly damaging 0.46
Z1177:Man2b2 UTSW 5 36813797 missense probably damaging 1.00
Posted On2016-08-02