Incidental Mutation 'R7522:Man2a2'
ID |
582716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2a2
|
Ensembl Gene |
ENSMUSG00000038886 |
Gene Name |
mannosidase 2, alpha 2 |
Synonyms |
MX, alpha mannosidase IIx, 1700052O22Rik, 4931438M07Rik |
MMRRC Submission |
045594-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R7522 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 80018613 bp (GRCm39)
|
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: 82,902,949 (GRCm39) |
C82F |
unknown |
Het |
Adam21 |
G |
C |
12: 81,605,722 (GRCm39) |
T680R |
possibly damaging |
Het |
Adgrf4 |
A |
C |
17: 42,980,675 (GRCm39) |
Y137D |
probably benign |
Het |
Ago3 |
T |
C |
4: 126,257,600 (GRCm39) |
K477R |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,979,686 (GRCm39) |
D323E |
probably benign |
Het |
Amph |
A |
G |
13: 19,270,715 (GRCm39) |
D108G |
probably damaging |
Het |
Ankrd10 |
A |
T |
8: 11,682,910 (GRCm39) |
C106S |
probably damaging |
Het |
Bmp5 |
A |
T |
9: 75,683,384 (GRCm39) |
T4S |
probably benign |
Het |
Brix1 |
G |
A |
15: 10,476,676 (GRCm39) |
R267C |
probably damaging |
Het |
Calcrl |
G |
A |
2: 84,203,708 (GRCm39) |
S24L |
probably benign |
Het |
Ccdc40 |
T |
G |
11: 119,123,047 (GRCm39) |
I213R |
possibly damaging |
Het |
Cd300lg |
A |
G |
11: 101,945,028 (GRCm39) |
I413V |
probably benign |
Het |
Cdh3 |
G |
A |
8: 107,268,005 (GRCm39) |
D347N |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,394,446 (GRCm39) |
T55A |
probably benign |
Het |
Cnga4 |
A |
G |
7: 105,055,195 (GRCm39) |
T260A |
probably damaging |
Het |
Cpne8 |
G |
T |
15: 90,486,022 (GRCm39) |
P147Q |
probably benign |
Het |
Cpsf6 |
A |
G |
10: 117,203,734 (GRCm39) |
Y74H |
unknown |
Het |
Cryl1 |
A |
T |
14: 57,513,428 (GRCm39) |
S264R |
probably benign |
Het |
Cyp39a1 |
C |
T |
17: 43,978,370 (GRCm39) |
|
probably benign |
Het |
Cyp4f39 |
T |
C |
17: 32,705,946 (GRCm39) |
S346P |
probably damaging |
Het |
Cyria |
A |
G |
12: 12,408,057 (GRCm39) |
T28A |
possibly damaging |
Het |
Ddhd1 |
G |
A |
14: 45,895,104 (GRCm39) |
A122V |
possibly damaging |
Het |
Dnmt1 |
C |
A |
9: 20,831,498 (GRCm39) |
C662F |
probably damaging |
Het |
E2f6 |
G |
A |
12: 16,872,125 (GRCm39) |
G190S |
probably benign |
Het |
Esp34 |
A |
T |
17: 38,870,432 (GRCm39) |
I109F |
possibly damaging |
Het |
Espl1 |
A |
T |
15: 102,213,486 (GRCm39) |
D604V |
probably damaging |
Het |
Exo1 |
T |
C |
1: 175,728,870 (GRCm39) |
C645R |
probably benign |
Het |
Fah |
A |
G |
7: 84,246,282 (GRCm39) |
V189A |
probably benign |
Het |
Fam184b |
A |
C |
5: 45,688,093 (GRCm39) |
Y939D |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,908,829 (GRCm39) |
L410* |
probably null |
Het |
Gak |
A |
T |
5: 108,739,065 (GRCm39) |
I665N |
possibly damaging |
Het |
Galnt9 |
A |
G |
5: 110,743,705 (GRCm39) |
|
probably null |
Het |
Gcg |
T |
C |
2: 62,306,103 (GRCm39) |
R165G |
probably benign |
Het |
Hexd |
T |
C |
11: 121,108,923 (GRCm39) |
V214A |
possibly damaging |
Het |
Hoxb3 |
A |
T |
11: 96,235,507 (GRCm39) |
S145C |
probably damaging |
Het |
Il18 |
A |
G |
9: 50,486,640 (GRCm39) |
Y23C |
probably damaging |
Het |
Itgav |
A |
T |
2: 83,632,373 (GRCm39) |
I954F |
probably benign |
Het |
Kcna4 |
A |
G |
2: 107,126,600 (GRCm39) |
R445G |
probably damaging |
Het |
Kyat3 |
T |
A |
3: 142,440,305 (GRCm39) |
L343Q |
probably damaging |
Het |
Lgals4 |
A |
T |
7: 28,537,117 (GRCm39) |
D139V |
possibly damaging |
Het |
Lrp3 |
C |
T |
7: 34,903,755 (GRCm39) |
G197D |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,821,668 (GRCm39) |
C1347* |
probably null |
Het |
Map3k4 |
T |
C |
17: 12,480,219 (GRCm39) |
Q661R |
probably benign |
Het |
Marcks |
A |
C |
10: 37,012,577 (GRCm39) |
F153V |
unknown |
Het |
Mocs1 |
T |
C |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
Naa60 |
A |
G |
16: 3,719,768 (GRCm39) |
T232A |
probably benign |
Het |
Oosp1 |
A |
T |
19: 11,666,065 (GRCm39) |
I75N |
probably benign |
Het |
Opn3 |
A |
G |
1: 175,493,189 (GRCm39) |
V125A |
probably benign |
Het |
Or2ag18 |
A |
G |
7: 106,404,994 (GRCm39) |
V225A |
probably damaging |
Het |
Or2f1 |
T |
A |
6: 42,721,568 (GRCm39) |
I199N |
probably damaging |
Het |
Or4c102 |
A |
G |
2: 88,423,005 (GRCm39) |
T286A |
possibly damaging |
Het |
Or7g27 |
T |
A |
9: 19,250,294 (GRCm39) |
C179* |
probably null |
Het |
Palb2 |
T |
C |
7: 121,712,501 (GRCm39) |
T947A |
probably damaging |
Het |
Pde5a |
C |
T |
3: 122,634,648 (GRCm39) |
R730* |
probably null |
Het |
Plcl1 |
T |
C |
1: 55,735,523 (GRCm39) |
I288T |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,977 (GRCm39) |
I966T |
probably benign |
Het |
Prkcz |
T |
C |
4: 155,355,742 (GRCm39) |
E400G |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,400,102 (GRCm39) |
D2332G |
possibly damaging |
Het |
Ptgds |
T |
G |
2: 25,357,920 (GRCm39) |
T154P |
probably benign |
Het |
Rel |
T |
C |
11: 23,720,676 (GRCm39) |
|
probably null |
Het |
Rxylt1 |
A |
G |
10: 121,917,344 (GRCm39) |
W390R |
probably damaging |
Het |
Serpinb1c |
T |
A |
13: 33,066,200 (GRCm39) |
K248N |
probably benign |
Het |
Shkbp1 |
A |
C |
7: 27,046,583 (GRCm39) |
W394G |
possibly damaging |
Het |
Slc47a2 |
A |
G |
11: 61,193,076 (GRCm39) |
V559A |
probably benign |
Het |
Sox6 |
A |
T |
7: 115,400,813 (GRCm39) |
F10I |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,837,259 (GRCm39) |
V303A |
probably benign |
Het |
Styk1 |
T |
A |
6: 131,289,803 (GRCm39) |
|
probably null |
Het |
Tet1 |
T |
C |
10: 62,654,762 (GRCm39) |
T1574A |
possibly damaging |
Het |
Tkt |
A |
T |
14: 30,290,180 (GRCm39) |
I270F |
possibly damaging |
Het |
Trak1 |
A |
G |
9: 121,271,777 (GRCm39) |
E166G |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,849,939 (GRCm39) |
I58N |
probably damaging |
Het |
Uhmk1 |
T |
A |
1: 170,042,809 (GRCm39) |
M1L |
probably benign |
Het |
Usp50 |
T |
C |
2: 126,625,146 (GRCm39) |
Y21C |
probably damaging |
Het |
Vmn1r180 |
C |
G |
7: 23,652,685 (GRCm39) |
P283A |
probably damaging |
Het |
Vmn1r83 |
A |
G |
7: 12,055,505 (GRCm39) |
M184T |
possibly damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,774,665 (GRCm39) |
I230T |
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 |
IGL02383:Man2a2
|
APN |
7 |
80,009,388 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
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 |