Incidental Mutation 'IGL02824:Man2b2'
ID361129
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 #IGL02824
Quality Score
Status
Chromosome5
Chromosomal Location36806921-36830653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 36821851 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 282 (V282I)
Ref Sequence ENSEMBL: ENSMUSP00000031002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031002]
Predicted Effect probably benign
Transcript: ENSMUST00000031002
AA Change: V282I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: V282I

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 probably benign
Transcript: ENSMUST00000124711
SMART Domains Protein: ENSMUSP00000115495
Gene: ENSMUSG00000029119

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38C 67 469 2.5e-80 PFAM
low complexity region 483 493 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,702,319 probably benign Het
Aadat A T 8: 60,516,022 K93N probably benign Het
Abcb5 A G 12: 118,890,685 F832L probably benign Het
Abl1 A T 2: 31,800,819 K783N probably damaging Het
Agxt2 A G 15: 10,393,805 E423G probably null Het
Alkbh8 T C 9: 3,368,021 probably null Het
Ankrd36 T C 11: 5,574,246 I171T possibly damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Cd19 T C 7: 126,410,654 D446G probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cyp4f39 T C 17: 32,468,685 probably null Het
Ehbp1l1 T C 19: 5,719,298 D659G probably benign Het
Eif3l A G 15: 79,075,823 probably null Het
F5 T C 1: 164,194,347 S1464P probably benign Het
Fut9 T C 4: 25,620,037 N259S probably damaging Het
Glb1l3 A T 9: 26,850,109 I209N probably damaging Het
Gpd2 A G 2: 57,364,327 E671G probably null Het
Heatr5b T C 17: 78,773,680 D1381G probably damaging Het
Ifi206 A T 1: 173,481,872 I186K possibly damaging Het
Izumo1 A G 7: 45,625,648 D236G probably benign Het
Klhl32 T A 4: 24,682,237 R149* probably null Het
Lrrn1 T C 6: 107,568,534 F431S possibly damaging Het
Mboat2 A G 12: 24,946,586 K164R probably benign Het
Mgarp T C 3: 51,389,087 T165A probably damaging Het
Midn T G 10: 80,153,652 I43S possibly damaging Het
Ndn A G 7: 62,348,834 I143V possibly damaging Het
Olfr1099 T C 2: 86,958,993 D155G probably benign Het
Olfr816 T C 10: 129,911,696 E194G probably damaging Het
Pcnx4 T C 12: 72,555,571 V278A probably benign Het
Prr30 A G 14: 101,198,518 F203L probably benign Het
Scd4 T C 19: 44,341,259 L223P probably damaging Het
Setdb1 T C 3: 95,339,904 probably benign Het
Smtn A G 11: 3,532,658 Y105H probably damaging Het
Spata19 A G 9: 27,397,729 I54M possibly damaging Het
Syk A T 13: 52,623,283 probably benign Het
Trim44 A G 2: 102,400,195 F164L possibly damaging Het
Zfp503 C T 14: 21,985,094 G585S possibly damaging 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
IGL03323:Man2b2 APN 5 36818514 missense probably benign 0.07
IGL03333:Man2b2 APN 5 36816139 missense probably damaging 0.96
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 On2015-12-18