Incidental Mutation 'IGL01781:Man2b2'
ID |
153934 |
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)
|
Stock # |
IGL01781
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36971089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 759
(N759S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
AlphaFold |
O54782 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031002
AA Change: N759S
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031002 Gene: ENSMUSG00000029119 AA Change: N759S
Domain | Start | End | E-Value | Type |
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
AA Change: N338S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000115495 Gene: ENSMUSG00000029119 AA Change: N338S
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,349,280 (GRCm39) |
I3618N |
probably damaging |
Het |
Acss1 |
A |
G |
2: 150,479,792 (GRCm39) |
L305P |
probably damaging |
Het |
Alox12e |
A |
T |
11: 70,212,282 (GRCm39) |
L132Q |
probably damaging |
Het |
Atp6v0a4 |
T |
C |
6: 38,051,095 (GRCm39) |
N428D |
possibly damaging |
Het |
Ccdc80 |
C |
T |
16: 44,946,493 (GRCm39) |
H811Y |
probably damaging |
Het |
Cgn |
T |
C |
3: 94,680,515 (GRCm39) |
M596V |
probably benign |
Het |
Cpn1 |
T |
A |
19: 43,954,657 (GRCm39) |
E323V |
possibly damaging |
Het |
Cul9 |
A |
G |
17: 46,850,230 (GRCm39) |
S447P |
probably benign |
Het |
Cyp2f2 |
A |
T |
7: 26,829,846 (GRCm39) |
Y182F |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
Eri3 |
T |
C |
4: 117,421,874 (GRCm39) |
F51L |
probably benign |
Het |
Fgd5 |
A |
G |
6: 91,965,698 (GRCm39) |
S486G |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Ifna4 |
T |
C |
4: 88,760,389 (GRCm39) |
S98P |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,072,588 (GRCm39) |
K340R |
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,495,244 (GRCm39) |
|
probably benign |
Het |
Or2d36 |
T |
A |
7: 106,746,903 (GRCm39) |
C127S |
probably damaging |
Het |
Pdcd6ip |
G |
T |
9: 113,520,566 (GRCm39) |
N139K |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,167,349 (GRCm39) |
I193N |
possibly damaging |
Het |
Pip4p2 |
T |
C |
4: 14,893,566 (GRCm39) |
L143S |
probably damaging |
Het |
Pramel28 |
C |
A |
4: 143,692,299 (GRCm39) |
C234F |
probably benign |
Het |
Psg27 |
T |
A |
7: 18,298,989 (GRCm39) |
T111S |
probably damaging |
Het |
Ptprs |
G |
A |
17: 56,742,676 (GRCm39) |
L489F |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 91,996,846 (GRCm39) |
V76A |
probably benign |
Het |
Scd1 |
A |
T |
19: 44,388,787 (GRCm39) |
M221K |
possibly damaging |
Het |
Slc38a7 |
A |
G |
8: 96,570,386 (GRCm39) |
|
probably null |
Het |
Spon2 |
T |
C |
5: 33,372,904 (GRCm39) |
D266G |
probably benign |
Het |
Spry4 |
C |
T |
18: 38,723,478 (GRCm39) |
G95D |
probably damaging |
Het |
Supt20 |
A |
G |
3: 54,602,626 (GRCm39) |
M1V |
probably null |
Het |
Trappc11 |
A |
C |
8: 47,967,163 (GRCm39) |
F404V |
possibly damaging |
Het |
Vmn1r178 |
C |
A |
7: 23,593,434 (GRCm39) |
Q161K |
probably damaging |
Het |
Vmn2r25 |
T |
C |
6: 123,816,324 (GRCm39) |
E419G |
possibly damaging |
Het |
Vstm5 |
A |
G |
9: 15,168,968 (GRCm39) |
H146R |
probably damaging |
Het |
|
Other mutations in Man2b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2014-02-04 |