Incidental Mutation 'R5969:Man2a1'
| ID |
470773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2a1
|
| Ensembl Gene |
ENSMUSG00000024085 |
| Gene Name |
mannosidase 2, alpha 1 |
| Synonyms |
Map-2, Mana-2, Mana2 |
| MMRRC Submission |
044152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R5969 (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: 94.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,258,999 (GRCm39) |
Y19D |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,242,214 (GRCm39) |
L1359* |
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,860,292 (GRCm39) |
D671V |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,993,949 (GRCm39) |
S5078P |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,733,887 (GRCm39) |
T584S |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,394,195 (GRCm39) |
L568* |
probably null |
Het |
| Cenpn |
C |
A |
8: 117,667,276 (GRCm39) |
L300I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,226,052 (GRCm39) |
L3012Q |
possibly damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,479,911 (GRCm39) |
S819P |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,559,108 (GRCm39) |
S87T |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,803,003 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,121,367 (GRCm39) |
T1777S |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,811,386 (GRCm39) |
P1235Q |
probably damaging |
Het |
| Cxcr4 |
T |
A |
1: 128,517,584 (GRCm39) |
N24Y |
probably benign |
Het |
| D630003M21Rik |
G |
T |
2: 158,059,628 (GRCm39) |
H91N |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,689,051 (GRCm39) |
|
probably null |
Het |
| Edc3 |
T |
C |
9: 57,620,711 (GRCm39) |
S11P |
probably damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,248 (GRCm39) |
D127G |
unknown |
Het |
| Exoc3 |
G |
A |
13: 74,320,305 (GRCm39) |
Q719* |
probably null |
Het |
| Fam13a |
A |
G |
6: 58,942,183 (GRCm39) |
M203T |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
C |
T |
19: 57,372,555 (GRCm39) |
R602* |
probably null |
Het |
| Fxyd2 |
T |
A |
9: 45,319,628 (GRCm39) |
I30N |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,480 (GRCm39) |
V61A |
probably benign |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gpr35 |
T |
C |
1: 92,910,942 (GRCm39) |
V2A |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,244,848 (GRCm39) |
S1729P |
possibly damaging |
Het |
| Heatr5a |
T |
C |
12: 52,005,823 (GRCm39) |
T51A |
probably benign |
Het |
| Kat6b |
G |
A |
14: 21,720,860 (GRCm39) |
M1737I |
probably damaging |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klk10 |
A |
G |
7: 43,434,409 (GRCm39) |
Y267C |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,372,086 (GRCm39) |
Y98C |
probably damaging |
Het |
| Lyst |
A |
C |
13: 13,862,398 (GRCm39) |
|
probably null |
Het |
| Mfng |
A |
T |
15: 78,648,582 (GRCm39) |
V165D |
possibly damaging |
Het |
| Mto1 |
A |
G |
9: 78,360,187 (GRCm39) |
E225G |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,372,858 (GRCm39) |
C571F |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,154,513 (GRCm39) |
|
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,556,117 (GRCm39) |
I157N |
probably damaging |
Het |
| P2ry14 |
T |
A |
3: 59,022,579 (GRCm39) |
I303F |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,735,563 (GRCm39) |
D421G |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,954,482 (GRCm39) |
H75R |
possibly damaging |
Het |
| Phf21a |
A |
T |
2: 92,051,956 (GRCm39) |
H17L |
probably damaging |
Het |
| Ppid |
T |
A |
3: 79,505,024 (GRCm39) |
N122K |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,009,838 (GRCm39) |
I613V |
probably benign |
Het |
| Prcp |
C |
T |
7: 92,566,974 (GRCm39) |
P229S |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,432,426 (GRCm39) |
V85A |
probably damaging |
Het |
| Rgs22 |
G |
A |
15: 36,015,782 (GRCm39) |
T1034I |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,526,623 (GRCm39) |
V48A |
probably damaging |
Het |
| Snx16 |
A |
T |
3: 10,503,217 (GRCm39) |
M10K |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,070,977 (GRCm39) |
Q2270* |
probably null |
Het |
| Tmem185b |
T |
G |
1: 119,455,193 (GRCm39) |
I318S |
probably benign |
Het |
| Tnik |
C |
T |
3: 28,675,097 (GRCm39) |
R657C |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,701,429 (GRCm39) |
|
probably null |
Het |
| Trim40 |
C |
T |
17: 37,193,319 (GRCm39) |
R203H |
probably benign |
Het |
| Triobp |
T |
A |
15: 78,851,740 (GRCm39) |
N631K |
probably benign |
Het |
| Ubr3 |
T |
G |
2: 69,809,730 (GRCm39) |
Y1233* |
probably null |
Het |
| Vgll3 |
A |
G |
16: 65,636,449 (GRCm39) |
D200G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,755,981 (GRCm39) |
E18K |
probably benign |
Het |
| Zfp141 |
C |
A |
7: 42,138,912 (GRCm39) |
R40L |
probably damaging |
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 |
|
|
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'- ACAGCCTTCCAAGCCTTTG -3'
(R):5'- TCATGGTGAAGTCTGAGAGGC -3'
Sequencing Primer
(F):5'- GCCTTTGGCCTAAAAAGTTTCCATTG -3'
(R):5'- TGAAGTCTGAGAGGCATGGGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation