Incidental Mutation 'R7522:Man2a2'
| ID |
582716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2a2
|
| Ensembl Gene |
ENSMUSG00000038886 |
| Gene Name |
mannosidase 2, alpha 2 |
| Synonyms |
alpha mannosidase IIx, 1700052O22Rik, MX, 4931438M07Rik |
| MMRRC Submission |
045594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R7522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80349097-80371375 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 80368865 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 82
(A82G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000205436]
[ENSMUST00000206212]
[ENSMUST00000206301]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098346
AA Change: A82G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: A82G
| 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 |
probably benign
Transcript: ENSMUST00000205436
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206301
AA Change: A82G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0792 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (75/77) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030014E15Rik |
G |
T |
1: 82,925,228 (GRCm38) |
C82F |
unknown |
Het |
| Adam21 |
G |
C |
12: 81,558,948 (GRCm38) |
T680R |
possibly damaging |
Het |
| Adgrf4 |
A |
C |
17: 42,669,784 (GRCm38) |
Y137D |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,363,807 (GRCm38) |
K477R |
probably benign |
Het |
| Ahnak |
T |
A |
19: 9,002,322 (GRCm38) |
D323E |
probably benign |
Het |
| Amph |
A |
G |
13: 19,086,545 (GRCm38) |
D108G |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,632,910 (GRCm38) |
C106S |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,776,102 (GRCm38) |
T4S |
probably benign |
Het |
| Brix1 |
G |
A |
15: 10,476,590 (GRCm38) |
R267C |
probably damaging |
Het |
| Calcrl |
G |
A |
2: 84,373,364 (GRCm38) |
S24L |
probably benign |
Het |
| Ccdc40 |
T |
G |
11: 119,232,221 (GRCm38) |
I213R |
possibly damaging |
Het |
| Cd300lg |
A |
G |
11: 102,054,202 (GRCm38) |
I413V |
probably benign |
Het |
| Cdh3 |
G |
A |
8: 106,541,373 (GRCm38) |
D347N |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 60,941,412 (GRCm38) |
T55A |
probably benign |
Het |
| Cnga4 |
A |
G |
7: 105,405,988 (GRCm38) |
T260A |
probably damaging |
Het |
| Cpne8 |
G |
T |
15: 90,601,819 (GRCm38) |
P147Q |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,367,829 (GRCm38) |
Y74H |
unknown |
Het |
| Cryl1 |
A |
T |
14: 57,275,971 (GRCm38) |
S264R |
probably benign |
Het |
| Cyp39a1 |
C |
T |
17: 43,667,479 (GRCm38) |
|
probably benign |
Het |
| Cyp4f39 |
T |
C |
17: 32,486,972 (GRCm38) |
S346P |
probably damaging |
Het |
| Ddhd1 |
G |
A |
14: 45,657,647 (GRCm38) |
A122V |
possibly damaging |
Het |
| Dnmt1 |
C |
A |
9: 20,920,202 (GRCm38) |
C662F |
probably damaging |
Het |
| E2f6 |
G |
A |
12: 16,822,124 (GRCm38) |
G190S |
probably benign |
Het |
| Esp34 |
A |
T |
17: 38,559,541 (GRCm38) |
I109F |
possibly damaging |
Het |
| Espl1 |
A |
T |
15: 102,305,051 (GRCm38) |
D604V |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,901,304 (GRCm38) |
C645R |
probably benign |
Het |
| Fah |
A |
G |
7: 84,597,074 (GRCm38) |
V189A |
probably benign |
Het |
| Fam184b |
A |
C |
5: 45,530,751 (GRCm38) |
Y939D |
probably damaging |
Het |
| Fam49a |
A |
G |
12: 12,358,056 (GRCm38) |
T28A |
possibly damaging |
Het |
| Fchsd2 |
T |
A |
7: 101,259,622 (GRCm38) |
L410* |
probably null |
Het |
| Gak |
A |
T |
5: 108,591,199 (GRCm38) |
I665N |
possibly damaging |
Het |
| Galnt9 |
A |
G |
5: 110,595,839 (GRCm38) |
|
probably null |
Het |
| Gcg |
T |
C |
2: 62,475,759 (GRCm38) |
R165G |
probably benign |
Het |
| Hexdc |
T |
C |
11: 121,218,097 (GRCm38) |
V214A |
possibly damaging |
Het |
| Hoxb3 |
A |
T |
11: 96,344,681 (GRCm38) |
S145C |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,575,340 (GRCm38) |
Y23C |
probably damaging |
Het |
| Itgav |
A |
T |
2: 83,802,029 (GRCm38) |
I954F |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,296,255 (GRCm38) |
R445G |
probably damaging |
Het |
| Kyat3 |
T |
A |
3: 142,734,544 (GRCm38) |
L343Q |
probably damaging |
Het |
| Lgals4 |
A |
T |
7: 28,837,692 (GRCm38) |
D139V |
possibly damaging |
Het |
| Lrp3 |
C |
T |
7: 35,204,330 (GRCm38) |
G197D |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,647,083 (GRCm38) |
C1347* |
probably null |
Het |
| Map3k4 |
T |
C |
17: 12,261,332 (GRCm38) |
Q661R |
probably benign |
Het |
| Marcks |
A |
C |
10: 37,136,581 (GRCm38) |
F153V |
unknown |
Het |
| Mocs1 |
T |
C |
17: 49,435,264 (GRCm38) |
|
probably null |
Het |
| Naa60 |
A |
G |
16: 3,901,904 (GRCm38) |
T232A |
probably benign |
Het |
| Olfr1189 |
A |
G |
2: 88,592,661 (GRCm38) |
T286A |
possibly damaging |
Het |
| Olfr453 |
T |
A |
6: 42,744,634 (GRCm38) |
I199N |
probably damaging |
Het |
| Olfr700 |
A |
G |
7: 106,805,787 (GRCm38) |
V225A |
probably damaging |
Het |
| Olfr845 |
T |
A |
9: 19,338,998 (GRCm38) |
C179* |
probably null |
Het |
| Oosp1 |
A |
T |
19: 11,688,701 (GRCm38) |
I75N |
probably benign |
Het |
| Opn3 |
A |
G |
1: 175,665,623 (GRCm38) |
V125A |
probably benign |
Het |
| Palb2 |
T |
C |
7: 122,113,278 (GRCm38) |
T947A |
probably damaging |
Het |
| Pde5a |
C |
T |
3: 122,840,999 (GRCm38) |
R730* |
probably null |
Het |
| Plcl1 |
T |
C |
1: 55,696,364 (GRCm38) |
I288T |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,161,774 (GRCm38) |
I966T |
probably benign |
Het |
| Prkcz |
T |
C |
4: 155,271,285 (GRCm38) |
E400G |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,509,276 (GRCm38) |
D2332G |
possibly damaging |
Het |
| Ptgds |
T |
G |
2: 25,467,908 (GRCm38) |
T154P |
probably benign |
Het |
| Rel |
T |
C |
11: 23,770,676 (GRCm38) |
|
probably null |
Het |
| Serpinb1c |
T |
A |
13: 32,882,217 (GRCm38) |
K248N |
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,347,158 (GRCm38) |
W394G |
possibly damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,302,250 (GRCm38) |
V559A |
probably benign |
Het |
| Sox6 |
A |
T |
7: 115,801,578 (GRCm38) |
F10I |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,947,247 (GRCm38) |
V303A |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,312,840 (GRCm38) |
|
probably null |
Het |
| Tet1 |
T |
C |
10: 62,818,983 (GRCm38) |
T1574A |
possibly damaging |
Het |
| Tkt |
A |
T |
14: 30,568,223 (GRCm38) |
I270F |
possibly damaging |
Het |
| Tmem5 |
A |
G |
10: 122,081,439 (GRCm38) |
W390R |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,442,711 (GRCm38) |
E166G |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,630,965 (GRCm38) |
I58N |
probably damaging |
Het |
| Uhmk1 |
T |
A |
1: 170,215,240 (GRCm38) |
M1L |
probably benign |
Het |
| Usp50 |
T |
C |
2: 126,783,226 (GRCm38) |
Y21C |
probably damaging |
Het |
| Vmn1r180 |
C |
G |
7: 23,953,260 (GRCm38) |
P283A |
probably damaging |
Het |
| Vmn1r83 |
A |
G |
7: 12,321,578 (GRCm38) |
M184T |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,554,403 (GRCm38) |
I230T |
probably benign |
Het |
|
| Other mutations in Man2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Man2a2
|
APN |
7 |
80,361,132 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01405:Man2a2
|
APN |
7 |
80,360,934 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01717:Man2a2
|
APN |
7 |
80,367,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01843:Man2a2
|
APN |
7 |
80,362,906 (GRCm38) |
missense |
probably benign |
|
|
IGL02212:Man2a2
|
APN |
7 |
80,362,308 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02383:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02434:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02493:Man2a2
|
APN |
7 |
80,369,615 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02528:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02529:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02530:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02534:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02869:Man2a2
|
APN |
7 |
80,363,941 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03084:Man2a2
|
APN |
7 |
80,352,943 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03088:Man2a2
|
APN |
7 |
80,359,334 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL03377:Man2a2
|
APN |
7 |
80,359,052 (GRCm38) |
splice site |
probably null |
|
|
IGL03412:Man2a2
|
APN |
7 |
80,366,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
dugong
|
UTSW |
7 |
80,360,921 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2090_Man2a2_705
|
UTSW |
7 |
80,364,110 (GRCm38) |
unclassified |
probably benign |
|
|
R7828_Man2a2_437
|
UTSW |
7 |
80,366,926 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0112:Man2a2
|
UTSW |
7 |
80,358,276 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0119:Man2a2
|
UTSW |
7 |
80,367,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0646:Man2a2
|
UTSW |
7 |
80,363,197 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1184:Man2a2
|
UTSW |
7 |
80,362,965 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1445:Man2a2
|
UTSW |
7 |
80,368,562 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1626:Man2a2
|
UTSW |
7 |
80,367,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1739:Man2a2
|
UTSW |
7 |
80,362,438 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1820:Man2a2
|
UTSW |
7 |
80,358,933 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2090:Man2a2
|
UTSW |
7 |
80,364,110 (GRCm38) |
unclassified |
probably benign |
|
|
R2144:Man2a2
|
UTSW |
7 |
80,363,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2150:Man2a2
|
UTSW |
7 |
80,367,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3882:Man2a2
|
UTSW |
7 |
80,362,315 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4181:Man2a2
|
UTSW |
7 |
80,351,739 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4285:Man2a2
|
UTSW |
7 |
80,368,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4302:Man2a2
|
UTSW |
7 |
80,351,739 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4440:Man2a2
|
UTSW |
7 |
80,351,715 (GRCm38) |
missense |
probably benign |
0.37 |
|
R4494:Man2a2
|
UTSW |
7 |
80,359,275 (GRCm38) |
splice site |
probably null |
|
|
R4564:Man2a2
|
UTSW |
7 |
80,368,838 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4631:Man2a2
|
UTSW |
7 |
80,362,463 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5328:Man2a2
|
UTSW |
7 |
80,368,756 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5329:Man2a2
|
UTSW |
7 |
80,361,128 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5468:Man2a2
|
UTSW |
7 |
80,352,981 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5774:Man2a2
|
UTSW |
7 |
80,368,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5824:Man2a2
|
UTSW |
7 |
80,353,032 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5915:Man2a2
|
UTSW |
7 |
80,360,921 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5937:Man2a2
|
UTSW |
7 |
80,363,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6101:Man2a2
|
UTSW |
7 |
80,367,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6105:Man2a2
|
UTSW |
7 |
80,367,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6481:Man2a2
|
UTSW |
7 |
80,364,071 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6592:Man2a2
|
UTSW |
7 |
80,353,199 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6869:Man2a2
|
UTSW |
7 |
80,362,945 (GRCm38) |
missense |
probably benign |
0.35 |
|
R6918:Man2a2
|
UTSW |
7 |
80,353,192 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7137:Man2a2
|
UTSW |
7 |
80,359,751 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7236:Man2a2
|
UTSW |
7 |
80,368,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7496:Man2a2
|
UTSW |
7 |
80,352,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7523:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7524:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7583:Man2a2
|
UTSW |
7 |
80,366,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7681:Man2a2
|
UTSW |
7 |
80,351,749 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7828:Man2a2
|
UTSW |
7 |
80,366,926 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7843:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7845:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7847:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7848:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7984:Man2a2
|
UTSW |
7 |
80,353,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8194:Man2a2
|
UTSW |
7 |
80,361,018 (GRCm38) |
missense |
probably benign |
|
|
R8296:Man2a2
|
UTSW |
7 |
80,368,908 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8376:Man2a2
|
UTSW |
7 |
80,360,923 (GRCm38) |
nonsense |
probably null |
|
|
R8515:Man2a2
|
UTSW |
7 |
80,368,290 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8842:Man2a2
|
UTSW |
7 |
80,353,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9205:Man2a2
|
UTSW |
7 |
80,361,120 (GRCm38) |
missense |
probably benign |
|
|
R9563:Man2a2
|
UTSW |
7 |
80,356,353 (GRCm38) |
missense |
probably benign |
|
|
X0057:Man2a2
|
UTSW |
7 |
80,362,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGGTTAACATCTGCCG -3'
(R):5'- GCCTTGTGTAATAATAGCCTGAC -3'
Sequencing Primer
(F):5'- AATGCAGCTCAGTGCCTGTC -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation