Incidental Mutation 'IGL02383:Man2a2'
| ID |
291440 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Man2a2
|
| Ensembl Gene |
ENSMUSG00000038886 |
| Gene Name |
mannosidase 2, alpha 2 |
| Synonyms |
MX, alpha mannosidase IIx, 1700052O22Rik, 4931438M07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
IGL02383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80009388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 822
(A822V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000206301]
[ENSMUST00000206807]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098346
AA Change: A822V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: A822V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
44 |
75 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
167 |
497 |
1.9e-109 |
PFAM |
|
Alpha-mann_mid
|
502 |
588 |
1.4e-32 |
SMART |
|
Pfam:Glyco_hydro_38C
|
648 |
1148 |
1.1e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206301
|
| Predicted Effect |
silent
Transcript: ENSMUST00000206807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206917
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null males are infertile due to a defect during spermatogenesis involving the premature release of germ cells from the seminiferous tubules into the epididymis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
T |
C |
6: 133,269,205 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
C |
A |
11: 80,051,015 (GRCm39) |
A115D |
probably damaging |
Het |
| Ankrd1 |
A |
G |
19: 36,097,165 (GRCm39) |
V6A |
probably benign |
Het |
| Apobr |
T |
A |
7: 126,185,779 (GRCm39) |
V430E |
probably benign |
Het |
| Arhgap28 |
A |
G |
17: 68,203,084 (GRCm39) |
V123A |
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,903 (GRCm39) |
V167A |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,171,618 (GRCm39) |
*505C |
probably null |
Het |
| Bcat2 |
T |
A |
7: 45,237,431 (GRCm39) |
L305Q |
probably damaging |
Het |
| Coa8 |
T |
A |
12: 111,690,847 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,224,339 (GRCm39) |
S174P |
unknown |
Het |
| Ddx41 |
A |
T |
13: 55,680,170 (GRCm39) |
D418E |
probably benign |
Het |
| Defa40 |
A |
G |
8: 21,740,377 (GRCm39) |
D61G |
probably damaging |
Het |
| Exoc6 |
T |
C |
19: 37,566,922 (GRCm39) |
F240L |
probably benign |
Het |
| Fbln7 |
G |
A |
2: 128,737,477 (GRCm39) |
V431I |
probably benign |
Het |
| Gfral |
T |
A |
9: 76,104,374 (GRCm39) |
N213Y |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,706,562 (GRCm39) |
D22G |
probably benign |
Het |
| H2-M1 |
G |
A |
17: 36,981,141 (GRCm39) |
T298I |
unknown |
Het |
| Haus3 |
A |
T |
5: 34,323,580 (GRCm39) |
Y343* |
probably null |
Het |
| Hid1 |
T |
C |
11: 115,243,446 (GRCm39) |
E534G |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,170,676 (GRCm39) |
V196A |
probably benign |
Het |
| Itm2b |
C |
A |
14: 73,600,536 (GRCm39) |
E255* |
probably null |
Het |
| Kidins220 |
A |
T |
12: 25,047,332 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,762 (GRCm39) |
F297Y |
possibly damaging |
Het |
| Krt9 |
T |
C |
11: 100,082,041 (GRCm39) |
E253G |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,973,932 (GRCm39) |
|
probably null |
Het |
| Med29 |
C |
A |
7: 28,086,448 (GRCm39) |
R120L |
possibly damaging |
Het |
| Napa |
C |
T |
7: 15,846,503 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,961,624 (GRCm39) |
Y351N |
probably benign |
Het |
| Nphs1 |
C |
T |
7: 30,181,060 (GRCm39) |
|
probably benign |
Het |
| Or5b94 |
A |
G |
19: 12,651,899 (GRCm39) |
D110G |
probably benign |
Het |
| Prss16 |
T |
C |
13: 22,193,697 (GRCm39) |
I33V |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,227 (GRCm39) |
Y193C |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,102,002 (GRCm39) |
R78H |
probably damaging |
Het |
| Rrp9 |
T |
A |
9: 106,362,471 (GRCm39) |
I452N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,737,607 (GRCm39) |
|
probably benign |
Het |
| Sec23a |
A |
G |
12: 59,048,813 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc17a9 |
A |
C |
2: 180,377,674 (GRCm39) |
D190A |
probably benign |
Het |
| Slc44a4 |
G |
A |
17: 35,146,686 (GRCm39) |
V422I |
probably benign |
Het |
| Smc5 |
C |
T |
19: 23,191,996 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,730,351 (GRCm39) |
S611F |
probably benign |
Het |
| Tmem38b |
G |
A |
4: 53,854,345 (GRCm39) |
M192I |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,989,410 (GRCm39) |
C34* |
probably null |
Het |
| Usp46 |
T |
A |
5: 74,190,014 (GRCm39) |
M6L |
probably benign |
Het |
| Uspl1 |
G |
A |
5: 149,150,212 (GRCm39) |
V471M |
probably damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,655,875 (GRCm39) |
Q265L |
probably damaging |
Het |
| Vmn1r35 |
G |
T |
6: 66,655,876 (GRCm39) |
Q265K |
probably damaging |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,461 (GRCm39) |
I69V |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,935,082 (GRCm39) |
|
probably null |
Het |
| Xntrpc |
A |
C |
7: 101,742,802 (GRCm39) |
D604A |
probably damaging |
Het |
| Yeats4 |
T |
A |
10: 117,051,716 (GRCm39) |
R180S |
probably benign |
Het |
|
| Other mutations in Man2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Man2a2
|
APN |
7 |
80,010,880 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01405:Man2a2
|
APN |
7 |
80,010,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01717:Man2a2
|
APN |
7 |
80,017,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01843:Man2a2
|
APN |
7 |
80,012,654 (GRCm39) |
missense |
probably benign |
|
|
IGL02212:Man2a2
|
APN |
7 |
80,012,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02434:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02493:Man2a2
|
APN |
7 |
80,019,363 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02528:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02529:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02530:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02534:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02869:Man2a2
|
APN |
7 |
80,013,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03084:Man2a2
|
APN |
7 |
80,002,691 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03088:Man2a2
|
APN |
7 |
80,009,082 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03377:Man2a2
|
APN |
7 |
80,008,800 (GRCm39) |
splice site |
probably null |
|
|
IGL03412:Man2a2
|
APN |
7 |
80,016,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dugong
|
UTSW |
7 |
80,010,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2090_Man2a2_705
|
UTSW |
7 |
80,013,858 (GRCm39) |
unclassified |
probably benign |
|
|
R7828_Man2a2_437
|
UTSW |
7 |
80,016,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0112:Man2a2
|
UTSW |
7 |
80,008,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Man2a2
|
UTSW |
7 |
80,017,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Man2a2
|
UTSW |
7 |
80,012,945 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1184:Man2a2
|
UTSW |
7 |
80,012,713 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1445:Man2a2
|
UTSW |
7 |
80,018,310 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1626:Man2a2
|
UTSW |
7 |
80,017,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Man2a2
|
UTSW |
7 |
80,012,186 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1820:Man2a2
|
UTSW |
7 |
80,008,681 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2090:Man2a2
|
UTSW |
7 |
80,013,858 (GRCm39) |
unclassified |
probably benign |
|
|
R2144:Man2a2
|
UTSW |
7 |
80,013,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Man2a2
|
UTSW |
7 |
80,017,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Man2a2
|
UTSW |
7 |
80,012,063 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4181:Man2a2
|
UTSW |
7 |
80,001,487 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4285:Man2a2
|
UTSW |
7 |
80,018,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4302:Man2a2
|
UTSW |
7 |
80,001,487 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4440:Man2a2
|
UTSW |
7 |
80,001,463 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4494:Man2a2
|
UTSW |
7 |
80,009,023 (GRCm39) |
splice site |
probably null |
|
|
R4564:Man2a2
|
UTSW |
7 |
80,018,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4631:Man2a2
|
UTSW |
7 |
80,012,211 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5328:Man2a2
|
UTSW |
7 |
80,018,504 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5329:Man2a2
|
UTSW |
7 |
80,010,876 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5468:Man2a2
|
UTSW |
7 |
80,002,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5774:Man2a2
|
UTSW |
7 |
80,018,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Man2a2
|
UTSW |
7 |
80,002,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5915:Man2a2
|
UTSW |
7 |
80,010,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5937:Man2a2
|
UTSW |
7 |
80,013,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Man2a2
|
UTSW |
7 |
80,016,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Man2a2
|
UTSW |
7 |
80,016,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Man2a2
|
UTSW |
7 |
80,013,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6592:Man2a2
|
UTSW |
7 |
80,002,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6869:Man2a2
|
UTSW |
7 |
80,012,693 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6918:Man2a2
|
UTSW |
7 |
80,002,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7137:Man2a2
|
UTSW |
7 |
80,009,499 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7236:Man2a2
|
UTSW |
7 |
80,018,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Man2a2
|
UTSW |
7 |
80,002,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7523:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7524:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7583:Man2a2
|
UTSW |
7 |
80,016,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Man2a2
|
UTSW |
7 |
80,001,497 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7828:Man2a2
|
UTSW |
7 |
80,016,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7843:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7845:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7847:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7848:Man2a2
|
UTSW |
7 |
80,018,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7984:Man2a2
|
UTSW |
7 |
80,003,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8194:Man2a2
|
UTSW |
7 |
80,010,766 (GRCm39) |
missense |
probably benign |
|
|
R8296:Man2a2
|
UTSW |
7 |
80,018,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8376:Man2a2
|
UTSW |
7 |
80,010,671 (GRCm39) |
nonsense |
probably null |
|
|
R8515:Man2a2
|
UTSW |
7 |
80,018,038 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8842:Man2a2
|
UTSW |
7 |
80,003,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Man2a2
|
UTSW |
7 |
80,010,868 (GRCm39) |
missense |
probably benign |
|
|
R9563:Man2a2
|
UTSW |
7 |
80,006,101 (GRCm39) |
missense |
probably benign |
|
|
X0057:Man2a2
|
UTSW |
7 |
80,012,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation