Incidental Mutation 'R1536:Man2b2'
ID |
169519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2b2
|
Ensembl Gene |
ENSMUSG00000029119 |
Gene Name |
mannosidase 2, alpha B2 |
Synonyms |
135 kDa alpha-D-mannosidase |
MMRRC Submission |
039575-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1536 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36978271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 338
(T338A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
AlphaFold |
O54782 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031002
AA Change: T338A
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000031002 Gene: ENSMUSG00000029119 AA Change: T338A
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
|
SMART Domains |
Protein: ENSMUSP00000115495 Gene: ENSMUSG00000029119
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_38C
|
67 |
469 |
2.5e-80 |
PFAM |
low complexity region
|
483 |
493 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1559 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
Cwc27 |
A |
G |
13: 104,933,814 (GRCm39) |
L236P |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
Entpd5 |
G |
A |
12: 84,429,069 (GRCm39) |
R321* |
probably null |
Het |
Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 115,636,662 (GRCm39) |
N448K |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
T |
A |
10: 9,713,836 (GRCm39) |
R234S |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,177,649 (GRCm39) |
R452G |
probably damaging |
Het |
Vmn2r3 |
T |
A |
3: 64,182,538 (GRCm39) |
D387V |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACATCCCGCACAGTGACAG -3'
(R):5'- TGACAAGCAGTTCTTCAATGCCTCG -3'
Sequencing Primer
(F):5'- ATGTGTGGCCCTGGGAAAC -3'
(R):5'- CTCGGTGCAGTTTGACAAC -3'
|
Posted On |
2014-04-13 |