Incidental Mutation 'IGL01809:Man2b2'
ID 155775
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 # IGL01809
Quality Score
Status
Chromosome 5
Chromosomal Location 36964265-36987997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36971860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 619 (S619G)
Ref Sequence ENSEMBL: ENSMUSP00000031002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031002]
AlphaFold O54782
Predicted Effect probably benign
Transcript: ENSMUST00000031002
AA Change: S619G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: S619G

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: S198G
SMART Domains Protein: ENSMUSP00000115495
Gene: ENSMUSG00000029119
AA Change: S198G

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,240,339 (GRCm39) N734I probably damaging Het
Abi1 T C 2: 22,836,729 (GRCm39) I371V probably benign Het
Atp8b3 A G 10: 80,355,845 (GRCm39) F1289S probably benign Het
Brca2 T A 5: 150,454,526 (GRCm39) probably null Het
C8a A T 4: 104,703,139 (GRCm39) I306N probably benign Het
Crybg3 G T 16: 59,345,216 (GRCm39) probably benign Het
Disp2 T A 2: 118,617,745 (GRCm39) probably benign Het
Dtl A G 1: 191,280,415 (GRCm39) F373S probably damaging Het
Dynlt1a G A 17: 6,361,147 (GRCm39) probably null Het
Dyrk1a G A 16: 94,460,476 (GRCm39) R44H probably benign Het
Fam114a2 C T 11: 57,404,461 (GRCm39) probably null Het
Fsip2 A G 2: 82,808,691 (GRCm39) E1670G possibly damaging Het
Gbp10 A T 5: 105,365,225 (GRCm39) N594K probably benign Het
Gpam T A 19: 55,064,057 (GRCm39) K679* probably null Het
Gtf2i A T 5: 134,278,804 (GRCm39) V524E probably damaging Het
Itpr2 T A 6: 146,129,079 (GRCm39) E2011D probably damaging Het
Jag1 C A 2: 136,957,404 (GRCm39) G103W probably damaging Het
Klkb1 A T 8: 45,729,090 (GRCm39) V378E probably benign Het
Lyst T A 13: 13,812,388 (GRCm39) S933R probably damaging Het
Mex3b T C 7: 82,518,920 (GRCm39) S412P probably benign Het
Mtf2 A G 5: 108,235,191 (GRCm39) I36V probably benign Het
Nckipsd T C 9: 108,694,753 (GRCm39) Y652H probably damaging Het
Or5ak24 A G 2: 85,260,498 (GRCm39) L225P probably damaging Het
Or5w13 T C 2: 87,524,089 (GRCm39) I46V possibly damaging Het
Or8b12i A G 9: 20,082,591 (GRCm39) I92T probably damaging Het
Or8g53 A T 9: 39,683,990 (GRCm39) Y35* probably null Het
Phykpl T C 11: 51,490,351 (GRCm39) F411L probably benign Het
Rbm8a T A 3: 96,538,853 (GRCm39) F101I probably damaging Het
Rbp3 G T 14: 33,677,257 (GRCm39) G402W probably damaging Het
Recql4 G A 15: 76,593,070 (GRCm39) R254* probably null Het
Rsph14 G A 10: 74,793,618 (GRCm39) probably benign Het
Stau2 A T 1: 16,510,539 (GRCm39) probably null Het
Tmprss11c G A 5: 86,385,521 (GRCm39) S304L possibly damaging Het
Vipr1 T G 9: 121,490,506 (GRCm39) M184R possibly damaging Het
Zfp106 G A 2: 120,364,152 (GRCm39) R752C 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
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 2014-02-04