Incidental Mutation 'R5970:Man2a1'
ID |
470831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2a1
|
Ensembl Gene |
ENSMUSG00000024085 |
Gene Name |
mannosidase 2, alpha 1 |
Synonyms |
Map-2, Mana-2, Mana2 |
MMRRC Submission |
044153-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R5970 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
64907731-65062105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64932375 bp (GRCm39)
|
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: 90,574,028 (GRCm39) |
|
probably benign |
Het |
Ambn |
T |
C |
5: 88,615,810 (GRCm39) |
V413A |
possibly damaging |
Het |
Amotl1 |
T |
A |
9: 14,507,824 (GRCm39) |
D41V |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,247,468 (GRCm39) |
V184A |
probably benign |
Het |
Birc6 |
G |
T |
17: 74,925,497 (GRCm39) |
G936V |
possibly damaging |
Het |
Ccser1 |
T |
A |
6: 61,288,226 (GRCm39) |
S130T |
possibly damaging |
Het |
Cecr2 |
A |
G |
6: 120,697,868 (GRCm39) |
I56V |
probably damaging |
Het |
Cfap52 |
A |
G |
11: 67,821,570 (GRCm39) |
I486T |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,694,050 (GRCm39) |
I1557V |
possibly damaging |
Het |
Col6a5 |
T |
A |
9: 105,823,046 (GRCm39) |
I104F |
unknown |
Het |
Cry2 |
A |
G |
2: 92,243,312 (GRCm39) |
S510P |
probably benign |
Het |
Csmd2 |
G |
C |
4: 128,439,944 (GRCm39) |
A3133P |
probably benign |
Het |
Cyld |
G |
T |
8: 89,459,621 (GRCm39) |
A611S |
probably damaging |
Het |
Dennd4c |
G |
A |
4: 86,743,749 (GRCm39) |
G1197E |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,885,793 (GRCm39) |
F2969L |
probably benign |
Het |
Dnai1 |
A |
G |
4: 41,625,281 (GRCm39) |
K415R |
probably benign |
Het |
Dnmbp |
T |
A |
19: 43,842,610 (GRCm39) |
T1253S |
probably benign |
Het |
Dsp |
T |
C |
13: 38,379,678 (GRCm39) |
L1542P |
possibly damaging |
Het |
Duox1 |
T |
A |
2: 122,170,682 (GRCm39) |
L1234Q |
probably damaging |
Het |
Efr3b |
T |
A |
12: 4,018,590 (GRCm39) |
R585S |
possibly damaging |
Het |
Gpt |
A |
G |
15: 76,583,552 (GRCm39) |
|
probably null |
Het |
Heatr6 |
G |
A |
11: 83,644,544 (GRCm39) |
|
probably benign |
Het |
Kcns2 |
A |
G |
15: 34,839,930 (GRCm39) |
D431G |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,962,342 (GRCm39) |
N1543D |
probably damaging |
Het |
Mical3 |
G |
A |
6: 120,935,232 (GRCm39) |
Q893* |
probably null |
Het |
Morc3 |
C |
T |
16: 93,663,341 (GRCm39) |
H515Y |
possibly damaging |
Het |
Mprip |
A |
T |
11: 59,648,547 (GRCm39) |
R750S |
probably damaging |
Het |
Mroh1 |
G |
A |
15: 76,335,691 (GRCm39) |
V1436M |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,344,406 (GRCm39) |
R69* |
probably null |
Het |
Muc5b |
A |
T |
7: 141,410,449 (GRCm39) |
Y1274F |
unknown |
Het |
Mybpc1 |
A |
G |
10: 88,378,318 (GRCm39) |
L674P |
probably damaging |
Het |
Mypn |
A |
G |
10: 62,966,802 (GRCm39) |
V958A |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,326,302 (GRCm39) |
T2436A |
probably benign |
Het |
Or7g20 |
A |
G |
9: 18,946,443 (GRCm39) |
D8G |
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,454,826 (GRCm39) |
L402Q |
probably damaging |
Het |
Pigp |
T |
A |
16: 94,171,053 (GRCm39) |
|
probably null |
Het |
Rp1 |
A |
G |
1: 4,418,685 (GRCm39) |
L809P |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,325,125 (GRCm39) |
|
probably benign |
Het |
Sdf2 |
A |
T |
11: 78,136,906 (GRCm39) |
M29L |
probably benign |
Het |
Serpina3b |
T |
G |
12: 104,100,350 (GRCm39) |
L311V |
possibly damaging |
Het |
Snx31 |
A |
T |
15: 36,523,634 (GRCm39) |
Y349* |
probably null |
Het |
Spidr |
A |
C |
16: 15,932,733 (GRCm39) |
C182W |
probably damaging |
Het |
St13 |
A |
T |
15: 81,261,999 (GRCm39) |
S146R |
probably damaging |
Het |
St8sia4 |
A |
G |
1: 95,581,307 (GRCm39) |
V145A |
probably damaging |
Het |
Stradb |
T |
C |
1: 59,019,175 (GRCm39) |
|
probably null |
Het |
Tcp11l2 |
T |
A |
10: 84,430,661 (GRCm39) |
|
probably benign |
Het |
Tfdp2 |
C |
T |
9: 96,199,627 (GRCm39) |
P74S |
unknown |
Het |
Tmprss15 |
C |
T |
16: 78,854,547 (GRCm39) |
R287H |
probably benign |
Het |
Trav10d |
T |
C |
14: 53,048,779 (GRCm39) |
Y57H |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,249,733 (GRCm39) |
I846T |
probably benign |
Het |
Ywhah |
T |
A |
5: 33,184,292 (GRCm39) |
M165K |
possibly damaging |
Het |
Zfp324 |
C |
A |
7: 12,703,293 (GRCm39) |
P72T |
probably benign |
Het |
|
Other mutations in Man2a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01390:Man2a1
|
APN |
17 |
65,017,700 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01823:Man2a1
|
APN |
17 |
64,973,819 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02012:Man2a1
|
APN |
17 |
64,973,894 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02589:Man2a1
|
APN |
17 |
64,986,773 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03248:Man2a1
|
APN |
17 |
65,020,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R0070:Man2a1
|
UTSW |
17 |
64,966,074 (GRCm39) |
splice site |
probably null |
|
R0092:Man2a1
|
UTSW |
17 |
64,966,079 (GRCm39) |
splice site |
probably benign |
|
R1347:Man2a1
|
UTSW |
17 |
65,019,445 (GRCm39) |
missense |
probably damaging |
0.98 |
R1347:Man2a1
|
UTSW |
17 |
65,019,445 (GRCm39) |
missense |
probably damaging |
0.98 |
R1376:Man2a1
|
UTSW |
17 |
64,979,038 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1376:Man2a1
|
UTSW |
17 |
64,979,038 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1599:Man2a1
|
UTSW |
17 |
64,986,826 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1799:Man2a1
|
UTSW |
17 |
65,059,452 (GRCm39) |
missense |
probably benign |
0.12 |
R1799:Man2a1
|
UTSW |
17 |
64,976,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Man2a1
|
UTSW |
17 |
65,047,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Man2a1
|
UTSW |
17 |
65,057,830 (GRCm39) |
missense |
probably benign |
0.00 |
R2852:Man2a1
|
UTSW |
17 |
65,020,596 (GRCm39) |
missense |
probably benign |
0.00 |
R4324:Man2a1
|
UTSW |
17 |
64,973,788 (GRCm39) |
missense |
probably benign |
0.00 |
R4582:Man2a1
|
UTSW |
17 |
65,059,494 (GRCm39) |
missense |
probably benign |
0.00 |
R4610:Man2a1
|
UTSW |
17 |
65,019,454 (GRCm39) |
missense |
probably benign |
|
R4803:Man2a1
|
UTSW |
17 |
64,966,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R5072:Man2a1
|
UTSW |
17 |
64,966,074 (GRCm39) |
splice site |
probably null |
|
R5109:Man2a1
|
UTSW |
17 |
65,059,443 (GRCm39) |
missense |
probably benign |
0.31 |
R5223:Man2a1
|
UTSW |
17 |
65,019,266 (GRCm39) |
missense |
probably benign |
0.17 |
R5229:Man2a1
|
UTSW |
17 |
65,017,729 (GRCm39) |
missense |
probably benign |
0.00 |
R5238:Man2a1
|
UTSW |
17 |
64,943,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R5273:Man2a1
|
UTSW |
17 |
65,040,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R5289:Man2a1
|
UTSW |
17 |
64,958,222 (GRCm39) |
missense |
probably damaging |
0.99 |
R5352:Man2a1
|
UTSW |
17 |
65,038,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Man2a1
|
UTSW |
17 |
65,019,295 (GRCm39) |
missense |
probably benign |
0.00 |
R5898:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
R5942:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
R5943:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
R5963:Man2a1
|
UTSW |
17 |
64,982,117 (GRCm39) |
missense |
probably benign |
|
R5969:Man2a1
|
UTSW |
17 |
64,932,375 (GRCm39) |
missense |
probably benign |
0.01 |
R6164:Man2a1
|
UTSW |
17 |
65,040,719 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6207:Man2a1
|
UTSW |
17 |
65,020,600 (GRCm39) |
missense |
probably benign |
0.02 |
R6245:Man2a1
|
UTSW |
17 |
65,017,821 (GRCm39) |
missense |
probably damaging |
0.97 |
R6724:Man2a1
|
UTSW |
17 |
65,038,264 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6759:Man2a1
|
UTSW |
17 |
64,932,383 (GRCm39) |
missense |
probably benign |
0.00 |
R6778:Man2a1
|
UTSW |
17 |
65,021,630 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7250:Man2a1
|
UTSW |
17 |
64,943,583 (GRCm39) |
missense |
probably benign |
0.00 |
R7354:Man2a1
|
UTSW |
17 |
65,059,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R7833:Man2a1
|
UTSW |
17 |
64,973,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R7991:Man2a1
|
UTSW |
17 |
64,908,771 (GRCm39) |
missense |
probably benign |
0.28 |
R8489:Man2a1
|
UTSW |
17 |
64,908,765 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8540:Man2a1
|
UTSW |
17 |
64,965,982 (GRCm39) |
missense |
probably benign |
|
R8894:Man2a1
|
UTSW |
17 |
65,020,596 (GRCm39) |
missense |
probably benign |
0.00 |
R9447:Man2a1
|
UTSW |
17 |
64,966,001 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9488:Man2a1
|
UTSW |
17 |
65,040,734 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9526:Man2a1
|
UTSW |
17 |
64,958,310 (GRCm39) |
missense |
probably benign |
0.23 |
R9608:Man2a1
|
UTSW |
17 |
65,041,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R9666:Man2a1
|
UTSW |
17 |
64,943,557 (GRCm39) |
missense |
possibly damaging |
0.78 |
RF007:Man2a1
|
UTSW |
17 |
65,019,248 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Man2a1
|
UTSW |
17 |
65,042,049 (GRCm39) |
missense |
probably benign |
|
Z1177:Man2a1
|
UTSW |
17 |
64,966,015 (GRCm39) |
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 |