Incidental Mutation 'R5289:Man2a1'
| ID |
424619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2a1
|
| Ensembl Gene |
ENSMUSG00000024085 |
| Gene Name |
mannosidase 2, alpha 1 |
| Synonyms |
Map-2, Mana-2, Mana2 |
| MMRRC Submission |
042872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R5289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
64907731-65062105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64958222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 246
(T246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086723]
|
| AlphaFold |
P27046 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086723
AA Change: T246A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: T246A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,669,203 (GRCm39) |
V1731A |
probably benign |
Het |
| Ahcyl1 |
A |
G |
3: 107,577,206 (GRCm39) |
|
probably null |
Het |
| Aox1 |
T |
A |
1: 58,131,717 (GRCm39) |
M1042K |
probably damaging |
Het |
| Atp10d |
C |
A |
5: 72,412,466 (GRCm39) |
Q590K |
probably benign |
Het |
| Atp8b1 |
G |
T |
18: 64,679,158 (GRCm39) |
N774K |
possibly damaging |
Het |
| Atrnl1 |
C |
T |
19: 57,645,514 (GRCm39) |
T458M |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,054,258 (GRCm39) |
Q3126K |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,943,910 (GRCm39) |
C99* |
probably null |
Het |
| Cnr2 |
A |
G |
4: 135,644,318 (GRCm39) |
Y132C |
probably damaging |
Het |
| Commd9 |
C |
T |
2: 101,729,239 (GRCm39) |
A115V |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,219,114 (GRCm39) |
F426S |
probably damaging |
Het |
| Diras1 |
G |
A |
10: 80,858,078 (GRCm39) |
Q58* |
probably null |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,608 (GRCm39) |
I197F |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,293 (GRCm39) |
L56P |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,234,910 (GRCm39) |
V248D |
possibly damaging |
Het |
| Frem3 |
A |
G |
8: 81,338,948 (GRCm39) |
M414V |
probably benign |
Het |
| Frmd4b |
G |
T |
6: 97,279,309 (GRCm39) |
|
probably null |
Het |
| Gabarapl2 |
T |
C |
8: 112,669,227 (GRCm39) |
W62R |
probably damaging |
Het |
| Glt1d1 |
A |
G |
5: 127,721,420 (GRCm39) |
R36G |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,894,924 (GRCm39) |
|
silent |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hc |
A |
G |
2: 34,886,026 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
G |
16: 37,448,913 (GRCm39) |
E379G |
possibly damaging |
Het |
| Ifi30 |
A |
T |
8: 71,219,245 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,388,472 (GRCm39) |
I842V |
possibly damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,363,659 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
| Lama2 |
C |
A |
10: 27,088,069 (GRCm39) |
G903* |
probably null |
Het |
| Lrrc10 |
T |
C |
10: 116,881,392 (GRCm39) |
V22A |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,478,021 (GRCm39) |
E245G |
probably benign |
Het |
| Mfsd13a |
A |
G |
19: 46,356,719 (GRCm39) |
E240G |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,550,549 (GRCm39) |
I735T |
possibly damaging |
Het |
| Naa15 |
A |
T |
3: 51,363,315 (GRCm39) |
H333L |
probably damaging |
Het |
| Nes |
C |
A |
3: 87,885,725 (GRCm39) |
T1284K |
probably damaging |
Het |
| Nexn |
T |
G |
3: 151,953,709 (GRCm39) |
H173P |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,855,379 (GRCm39) |
V1173A |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,131,753 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
T |
A |
4: 99,824,266 (GRCm39) |
M313K |
probably damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,545 (GRCm39) |
K48N |
probably damaging |
Het |
| Prok1 |
G |
C |
3: 107,146,935 (GRCm39) |
L11V |
probably benign |
Het |
| Ptpn9 |
T |
C |
9: 56,967,347 (GRCm39) |
|
probably null |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc38a4 |
A |
T |
15: 96,908,229 (GRCm39) |
F171I |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,841,569 (GRCm39) |
N78K |
possibly damaging |
Het |
| Tas2r110 |
T |
C |
6: 132,844,972 (GRCm39) |
M1T |
probably null |
Het |
| Thoc2l |
G |
A |
5: 104,667,523 (GRCm39) |
V682I |
probably benign |
Het |
| Tmem260 |
G |
A |
14: 48,724,267 (GRCm39) |
V182M |
possibly damaging |
Het |
| Tmem30a |
A |
T |
9: 79,683,436 (GRCm39) |
N144K |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,866 (GRCm39) |
L219P |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,398 (GRCm39) |
S784P |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,644,473 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
A |
C |
7: 29,967,300 (GRCm39) |
V318G |
probably damaging |
Het |
| Zfp398 |
T |
A |
6: 47,840,115 (GRCm39) |
S115T |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,107,975 (GRCm39) |
C689S |
probably damaging |
Het |
| Zmynd15 |
C |
G |
11: 70,356,830 (GRCm39) |
P580R |
unknown |
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 |
|
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 |
|
R5970: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'- TCCTAGGAAAAGAAGGGTCACCC -3'
(R):5'- AGGAAAATTAGTTCAGATCCCCTG -3'
Sequencing Primer
(F):5'- TAATATGAGCACTTCATCCCAGGGG -3'
(R):5'- TGAGTGTCCCTTCCCAAGACAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation