Incidental Mutation 'R5970:Man2a1'
| ID |
470831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2a1
|
| Ensembl Gene |
ENSMUSG00000024085 |
| Gene Name |
mannosidase 2, alpha 1 |
| Synonyms |
Mana2, Map-2, Mana-2 |
| MMRRC Submission |
044153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
R5970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64600736-64755110 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64625380 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 154
(K154R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086723]
|
| AlphaFold |
P27046 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086723
AA Change: K154R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: K154R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
45 |
74 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
166 |
496 |
2.3e-111 |
PFAM |
|
Alpha-mann_mid
|
501 |
587 |
5.39e-34 |
SMART |
|
Pfam:Glyco_hydro_38C
|
648 |
1144 |
1.5e-98 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria, [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
G |
A |
6: 90,597,046 |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,467,951 |
V413A |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,596,528 |
D41V |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,340,047 |
V184A |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,618,502 |
G936V |
possibly damaging |
Het |
| Ccser1 |
T |
A |
6: 61,311,242 |
S130T |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,720,907 |
I56V |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,930,744 |
I486T |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,716,329 |
I1557V |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,945,847 |
I104F |
unknown |
Het |
| Cry2 |
A |
G |
2: 92,412,967 |
S510P |
probably benign |
Het |
| Csmd2 |
G |
C |
4: 128,546,151 |
A3133P |
probably benign |
Het |
| Cyld |
G |
T |
8: 88,732,993 |
A611S |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,825,512 |
G1197E |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,808,729 |
F2969L |
probably benign |
Het |
| Dnaic1 |
A |
G |
4: 41,625,281 |
K415R |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,854,171 |
T1253S |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,195,702 |
L1542P |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,340,201 |
L1234Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 3,968,590 |
R585S |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,699,352 |
|
probably null |
Het |
| Heatr6 |
G |
A |
11: 83,753,718 |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,784 |
D431G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,829,289 |
N1543D |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,958,271 |
Q893* |
probably null |
Het |
| Morc3 |
C |
T |
16: 93,866,453 |
H515Y |
possibly damaging |
Het |
| Mprip |
A |
T |
11: 59,757,721 |
R750S |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,451,491 |
V1436M |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,790,669 |
R69* |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,856,712 |
Y1274F |
unknown |
Het |
| Mybpc1 |
A |
G |
10: 88,542,456 |
L674P |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,131,023 |
V958A |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,296,818 |
T2436A |
probably benign |
Het |
| Olfr835 |
A |
G |
9: 19,035,147 |
D8G |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,321,773 |
L402Q |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,370,194 |
|
probably null |
Het |
| Rp1 |
A |
G |
1: 4,348,462 |
L809P |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,494,781 |
|
probably benign |
Het |
| Sdf2 |
A |
T |
11: 78,246,080 |
M29L |
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,134,091 |
L311V |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,523,488 |
Y349* |
probably null |
Het |
| Spidr |
A |
C |
16: 16,114,869 |
C182W |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,377,798 |
S146R |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,653,582 |
V145A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 58,980,016 |
|
probably null |
Het |
| Tcp11l2 |
T |
A |
10: 84,594,797 |
|
probably benign |
Het |
| Tfdp2 |
C |
T |
9: 96,317,574 |
P74S |
unknown |
Het |
| Tmprss15 |
C |
T |
16: 79,057,659 |
R287H |
probably benign |
Het |
| Trav10d |
T |
C |
14: 52,811,322 |
Y57H |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,029,471 |
I846T |
probably benign |
Het |
| Ywhah |
T |
A |
5: 33,026,948 |
M165K |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,969,366 |
P72T |
probably benign |
Het |
|
| Other mutations in Man2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01390:Man2a1
|
APN |
17 |
64,710,705 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01823:Man2a1
|
APN |
17 |
64,666,824 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02012:Man2a1
|
APN |
17 |
64,666,899 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02589:Man2a1
|
APN |
17 |
64,679,778 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03248:Man2a1
|
APN |
17 |
64,713,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0070:Man2a1
|
UTSW |
17 |
64,659,079 (GRCm38) |
splice site |
probably null |
|
|
R0092:Man2a1
|
UTSW |
17 |
64,659,084 (GRCm38) |
splice site |
probably benign |
|
|
R1347:Man2a1
|
UTSW |
17 |
64,712,450 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1347:Man2a1
|
UTSW |
17 |
64,712,450 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1376:Man2a1
|
UTSW |
17 |
64,672,043 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1376:Man2a1
|
UTSW |
17 |
64,672,043 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1599:Man2a1
|
UTSW |
17 |
64,679,831 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1799:Man2a1
|
UTSW |
17 |
64,752,457 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1799:Man2a1
|
UTSW |
17 |
64,669,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1822:Man2a1
|
UTSW |
17 |
64,740,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1958:Man2a1
|
UTSW |
17 |
64,750,835 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2852:Man2a1
|
UTSW |
17 |
64,713,601 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4324:Man2a1
|
UTSW |
17 |
64,666,793 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4582:Man2a1
|
UTSW |
17 |
64,752,499 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4610:Man2a1
|
UTSW |
17 |
64,712,459 (GRCm38) |
missense |
probably benign |
|
|
R4803:Man2a1
|
UTSW |
17 |
64,659,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5072:Man2a1
|
UTSW |
17 |
64,659,079 (GRCm38) |
splice site |
probably null |
|
|
R5109:Man2a1
|
UTSW |
17 |
64,752,448 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5223:Man2a1
|
UTSW |
17 |
64,712,271 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5229:Man2a1
|
UTSW |
17 |
64,710,734 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5238:Man2a1
|
UTSW |
17 |
64,636,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5273:Man2a1
|
UTSW |
17 |
64,733,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5289:Man2a1
|
UTSW |
17 |
64,651,227 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5352:Man2a1
|
UTSW |
17 |
64,731,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5428:Man2a1
|
UTSW |
17 |
64,712,300 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5898:Man2a1
|
UTSW |
17 |
64,625,380 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5942:Man2a1
|
UTSW |
17 |
64,625,380 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5943:Man2a1
|
UTSW |
17 |
64,625,380 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5963:Man2a1
|
UTSW |
17 |
64,675,122 (GRCm38) |
missense |
probably benign |
|
|
R5969:Man2a1
|
UTSW |
17 |
64,625,380 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6164:Man2a1
|
UTSW |
17 |
64,733,724 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6207:Man2a1
|
UTSW |
17 |
64,713,605 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6245:Man2a1
|
UTSW |
17 |
64,710,826 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6724:Man2a1
|
UTSW |
17 |
64,731,269 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6759:Man2a1
|
UTSW |
17 |
64,625,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6778:Man2a1
|
UTSW |
17 |
64,714,635 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7250:Man2a1
|
UTSW |
17 |
64,636,588 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7354:Man2a1
|
UTSW |
17 |
64,752,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7833:Man2a1
|
UTSW |
17 |
64,666,751 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7991:Man2a1
|
UTSW |
17 |
64,601,776 (GRCm38) |
missense |
probably benign |
0.28 |
|
R8489:Man2a1
|
UTSW |
17 |
64,601,770 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R8540:Man2a1
|
UTSW |
17 |
64,658,987 (GRCm38) |
missense |
probably benign |
|
|
R8894:Man2a1
|
UTSW |
17 |
64,713,601 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9447:Man2a1
|
UTSW |
17 |
64,659,006 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9488:Man2a1
|
UTSW |
17 |
64,733,739 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9526:Man2a1
|
UTSW |
17 |
64,651,315 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9608:Man2a1
|
UTSW |
17 |
64,734,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9666:Man2a1
|
UTSW |
17 |
64,636,562 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
RF007:Man2a1
|
UTSW |
17 |
64,712,253 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1177:Man2a1
|
UTSW |
17 |
64,735,054 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Man2a1
|
UTSW |
17 |
64,659,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTTGAGTGATTATCAAATGCC -3'
(R):5'- TCATGGTGAAGTCTGAGAGGC -3'
Sequencing Primer
(F):5'- GCCTTTGGCCTAAAAAGTTTCCATTG -3'
(R):5'- TGAAGTCTGAGAGGCATGGGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation