Incidental Mutation 'R0018:Man2b1'
| ID |
177877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2b1
|
| Ensembl Gene |
ENSMUSG00000005142 |
| Gene Name |
mannosidase 2, alpha B1 |
| Synonyms |
lysosomal alpha-mannosidase |
| MMRRC Submission |
038313-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0018 (G1)
|
| Quality Score |
65 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85809899-85824911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85824118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1005
(V1005E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034121]
|
| AlphaFold |
O09159 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034121
AA Change: V1005E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142
AA Change: V1005E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
64 |
381 |
2.7e-96 |
PFAM |
|
Alpha-mann_mid
|
386 |
465 |
4.25e-23 |
SMART |
|
Pfam:Glyco_hydro_38C
|
510 |
1002 |
6.2e-106 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show urinary oligosaccharide excretion, storage of neutral sugars, oligosaccharide buildup in spleen, kidney, liver, testis and brain, clear vacuoles and axonal spheroids in CNS, PNS and other cell types, behavioralchanges, and enhanced long-term potentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,532,162 (GRCm39) |
|
probably null |
Het |
| Afp |
A |
C |
5: 90,654,600 (GRCm39) |
Q546P |
probably damaging |
Het |
| Api5 |
A |
T |
2: 94,251,329 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
A |
1: 133,645,609 (GRCm39) |
I982F |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,005,087 (GRCm39) |
Q592* |
probably null |
Het |
| Capn7 |
T |
A |
14: 31,076,069 (GRCm39) |
C290* |
probably null |
Het |
| Ccn1 |
A |
G |
3: 145,355,186 (GRCm39) |
L23P |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,243 (GRCm39) |
D910V |
possibly damaging |
Het |
| Chga |
T |
C |
12: 102,524,764 (GRCm39) |
S45P |
probably damaging |
Het |
| Cpne2 |
T |
A |
8: 95,282,681 (GRCm39) |
C59S |
possibly damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,785,375 (GRCm39) |
R248H |
probably benign |
Het |
| Dennd1a |
T |
A |
2: 37,748,472 (GRCm39) |
T336S |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,862 (GRCm39) |
Y628C |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,464 (GRCm39) |
V542A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,326,096 (GRCm39) |
S820C |
unknown |
Het |
| Efcab3 |
G |
A |
11: 104,612,378 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,057,970 (GRCm39) |
S91P |
unknown |
Het |
| Epop |
A |
G |
11: 97,519,017 (GRCm39) |
V364A |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,626,037 (GRCm39) |
P341L |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,724 (GRCm39) |
T429A |
probably benign |
Het |
| Gsx2 |
A |
G |
5: 75,237,828 (GRCm39) |
K260R |
probably damaging |
Het |
| H2-M10.6 |
A |
C |
17: 37,124,941 (GRCm39) |
H286P |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,392,242 (GRCm39) |
N169D |
possibly damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,528,302 (GRCm39) |
D3282G |
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,893,640 (GRCm39) |
N285Y |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,795,717 (GRCm39) |
R450G |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,419,289 (GRCm39) |
D684G |
possibly damaging |
Het |
| Kif27 |
T |
G |
13: 58,435,867 (GRCm39) |
I1309L |
probably benign |
Het |
| Mab21l4 |
T |
A |
1: 93,082,327 (GRCm39) |
D264V |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,923 (GRCm39) |
F265I |
possibly damaging |
Het |
| Myo9a |
A |
T |
9: 59,779,007 (GRCm39) |
T1588S |
probably benign |
Het |
| Neu4 |
T |
A |
1: 93,953,060 (GRCm39) |
D476E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,071,423 (GRCm39) |
Q895L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
| Or1p1c |
A |
C |
11: 74,160,934 (GRCm39) |
T240P |
probably benign |
Het |
| Pdzd8 |
C |
T |
19: 59,289,105 (GRCm39) |
R765H |
probably damaging |
Het |
| Plk1 |
T |
C |
7: 121,768,208 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,678,647 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,544,406 (GRCm39) |
Y1799H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,082,951 (GRCm39) |
|
probably benign |
Het |
| Ptchd3 |
A |
C |
11: 121,733,170 (GRCm39) |
I687L |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,604,845 (GRCm39) |
|
probably null |
Het |
| Pus3 |
A |
G |
9: 35,477,920 (GRCm39) |
D384G |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,358,354 (GRCm39) |
P181S |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,454,016 (GRCm39) |
S307P |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,558,360 (GRCm39) |
D142G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,130,369 (GRCm39) |
D2647E |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,610,109 (GRCm39) |
T4239I |
possibly damaging |
Het |
| Sctr |
C |
A |
1: 119,971,286 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
A |
T |
13: 34,021,828 (GRCm39) |
Y167N |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,157,301 (GRCm39) |
I31V |
probably benign |
Het |
| Slc15a4 |
A |
T |
5: 127,679,074 (GRCm39) |
I422N |
probably damaging |
Het |
| Stk24 |
G |
A |
14: 121,545,419 (GRCm39) |
|
probably benign |
Het |
| Vmn1r213 |
T |
A |
13: 23,196,311 (GRCm39) |
V298D |
probably damaging |
Het |
| Xdh |
C |
T |
17: 74,232,020 (GRCm39) |
R230H |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,185,449 (GRCm39) |
S471C |
probably benign |
Het |
|
| Other mutations in Man2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Man2b1
|
APN |
8 |
85,811,267 (GRCm39) |
splice site |
probably null |
|
|
IGL00671:Man2b1
|
APN |
8 |
85,820,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01538:Man2b1
|
APN |
8 |
85,824,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
dateline
|
UTSW |
8 |
85,811,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
greenwich
|
UTSW |
8 |
85,812,085 (GRCm39) |
nonsense |
probably null |
|
|
longitude
|
UTSW |
8 |
85,821,773 (GRCm39) |
nonsense |
probably null |
|
|
meridian
|
UTSW |
8 |
85,823,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Man2b1
|
UTSW |
8 |
85,819,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0574:Man2b1
|
UTSW |
8 |
85,823,405 (GRCm39) |
missense |
probably benign |
|
|
R0727:Man2b1
|
UTSW |
8 |
85,818,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0837:Man2b1
|
UTSW |
8 |
85,823,458 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1087:Man2b1
|
UTSW |
8 |
85,821,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Man2b1
|
UTSW |
8 |
85,813,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1745:Man2b1
|
UTSW |
8 |
85,820,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Man2b1
|
UTSW |
8 |
85,813,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Man2b1
|
UTSW |
8 |
85,821,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2071:Man2b1
|
UTSW |
8 |
85,812,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2120:Man2b1
|
UTSW |
8 |
85,819,653 (GRCm39) |
splice site |
probably benign |
|
|
R3897:Man2b1
|
UTSW |
8 |
85,823,577 (GRCm39) |
splice site |
probably benign |
|
|
R3971:Man2b1
|
UTSW |
8 |
85,812,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3972:Man2b1
|
UTSW |
8 |
85,812,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4096:Man2b1
|
UTSW |
8 |
85,811,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Man2b1
|
UTSW |
8 |
85,817,565 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5183:Man2b1
|
UTSW |
8 |
85,822,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Man2b1
|
UTSW |
8 |
85,811,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Man2b1
|
UTSW |
8 |
85,820,839 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6027:Man2b1
|
UTSW |
8 |
85,823,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Man2b1
|
UTSW |
8 |
85,823,675 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6341:Man2b1
|
UTSW |
8 |
85,822,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Man2b1
|
UTSW |
8 |
85,824,076 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6622:Man2b1
|
UTSW |
8 |
85,811,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6624:Man2b1
|
UTSW |
8 |
85,823,482 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6631:Man2b1
|
UTSW |
8 |
85,813,440 (GRCm39) |
splice site |
probably null |
|
|
R6828:Man2b1
|
UTSW |
8 |
85,813,548 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6983:Man2b1
|
UTSW |
8 |
85,817,700 (GRCm39) |
splice site |
probably null |
|
|
R7159:Man2b1
|
UTSW |
8 |
85,813,909 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7267:Man2b1
|
UTSW |
8 |
85,813,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Man2b1
|
UTSW |
8 |
85,817,594 (GRCm39) |
nonsense |
probably null |
|
|
R7786:Man2b1
|
UTSW |
8 |
85,812,085 (GRCm39) |
nonsense |
probably null |
|
|
R8022:Man2b1
|
UTSW |
8 |
85,822,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Man2b1
|
UTSW |
8 |
85,823,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8251:Man2b1
|
UTSW |
8 |
85,821,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8406:Man2b1
|
UTSW |
8 |
85,822,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Man2b1
|
UTSW |
8 |
85,820,772 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8701:Man2b1
|
UTSW |
8 |
85,821,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Man2b1
|
UTSW |
8 |
85,821,773 (GRCm39) |
nonsense |
probably null |
|
|
R8891:Man2b1
|
UTSW |
8 |
85,811,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Man2b1
|
UTSW |
8 |
85,822,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Man2b1
|
UTSW |
8 |
85,822,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8953:Man2b1
|
UTSW |
8 |
85,818,539 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9059:Man2b1
|
UTSW |
8 |
85,818,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Man2b1
|
UTSW |
8 |
85,820,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCAGTGTCTGGTTCAAGGATGGC -3'
(R):5'- ACCCAGGGTGCAACAGGTTTTC -3'
Sequencing Primer
(F):5'- AATCTTAGGTGGTACTCAGGCATAG -3'
(R):5'- GTGCAACAGGTTTTCTGATACC -3'
|
| Posted On |
2014-04-30 |
Incidental Mutation