Incidental Mutation 'R6669:Man2b2'
ID |
528050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2b2
|
Ensembl Gene |
ENSMUSG00000029119 |
Gene Name |
mannosidase 2, alpha B2 |
Synonyms |
135 kDa alpha-D-mannosidase |
MMRRC Submission |
044789-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6669 (G1)
|
Quality Score |
155.008 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36967702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 889
(I889V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
AlphaFold |
O54782 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031002
AA Change: I889V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000031002 Gene: ENSMUSG00000029119 AA Change: I889V
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 |
unknown
Transcript: ENSMUST00000124711
AA Change: D451G
|
SMART Domains |
Protein: ENSMUSP00000115495 Gene: ENSMUSG00000029119 AA Change: D451G
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 |
unknown
Transcript: ENSMUST00000147893
AA Change: I23V
|
SMART Domains |
Protein: ENSMUSP00000114319 Gene: ENSMUSG00000029119 AA Change: I23V
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_38C
|
2 |
86 |
4.2e-8 |
PFAM |
|
Meta Mutation Damage Score |
0.1286 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
A |
G |
10: 50,716,469 (GRCm39) |
I1952V |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,637,788 (GRCm39) |
E142G |
possibly damaging |
Het |
Bbc3 |
G |
T |
7: 16,047,641 (GRCm39) |
A122S |
possibly damaging |
Het |
Cenpu |
T |
C |
8: 47,029,319 (GRCm39) |
S191P |
probably damaging |
Het |
Clic3 |
G |
T |
2: 25,347,779 (GRCm39) |
R48L |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,229,767 (GRCm39) |
K1774E |
probably benign |
Het |
Cnst |
T |
A |
1: 179,432,638 (GRCm39) |
|
probably null |
Het |
Cyfip1 |
T |
A |
7: 55,549,809 (GRCm39) |
S657T |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,572 (GRCm39) |
Y322C |
probably damaging |
Het |
Epn2 |
C |
T |
11: 61,410,384 (GRCm39) |
V550I |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,535,722 (GRCm39) |
P466S |
possibly damaging |
Het |
Fancd2 |
C |
T |
6: 113,570,288 (GRCm39) |
T1413I |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,121,847 (GRCm39) |
W400R |
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,988 (GRCm39) |
V425A |
probably damaging |
Het |
Klhl3 |
A |
T |
13: 58,158,966 (GRCm39) |
D564E |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,343,171 (GRCm39) |
I1688V |
probably damaging |
Het |
Mocos |
T |
A |
18: 24,799,467 (GRCm39) |
F234I |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,614,307 (GRCm39) |
T357A |
possibly damaging |
Het |
Ncoa6 |
T |
G |
2: 155,241,613 (GRCm39) |
|
probably null |
Het |
Nlk |
C |
A |
11: 78,477,892 (GRCm39) |
G284* |
probably null |
Het |
Nrxn1 |
T |
A |
17: 90,366,991 (GRCm39) |
T12S |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,531,221 (GRCm39) |
Y627C |
probably damaging |
Het |
Ntn1 |
T |
C |
11: 68,276,576 (GRCm39) |
N124S |
probably benign |
Het |
Pdzd7 |
T |
A |
19: 45,025,190 (GRCm39) |
Q435L |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc30a10 |
G |
A |
1: 185,196,625 (GRCm39) |
R429Q |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,524,213 (GRCm39) |
Y116H |
probably damaging |
Het |
Trpv5 |
G |
A |
6: 41,634,976 (GRCm39) |
A451V |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,926,605 (GRCm39) |
V482A |
probably benign |
Het |
Vcan |
A |
T |
13: 89,852,850 (GRCm39) |
D703E |
probably benign |
Het |
Xirp2 |
C |
A |
2: 67,343,699 (GRCm39) |
A1980E |
possibly damaging |
Het |
Xrcc1 |
T |
C |
7: 24,246,762 (GRCm39) |
V10A |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCTCCTAGATGACAGATGAG -3'
(R):5'- ATGTGTCGAGAGCAGCTTGG -3'
Sequencing Primer
(F):5'- CTCCTAGATGACAGATGAGGGGAC -3'
(R):5'- GGCCTGAGGTGTGAACC -3'
|
Posted On |
2018-07-24 |