Incidental Mutation 'R4564:Man2a2'
| ID |
343242 |
| 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 |
041789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R4564 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80018586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 91
(Y91F)
|
| 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: Y91F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: Y91F
| 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 |
noncoding transcript
Transcript: ENSMUST00000205535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206301
AA Change: Y91F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.1015 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
97% (58/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad3a |
C |
T |
4: 155,831,766 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
G |
4: 32,563,338 (GRCm39) |
S602A |
probably damaging |
Het |
| Ccl19 |
G |
T |
4: 42,756,295 (GRCm39) |
S12R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,675,402 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cnot3 |
G |
A |
7: 3,656,257 (GRCm39) |
R181H |
probably damaging |
Het |
| Dicer1 |
T |
A |
12: 104,671,010 (GRCm39) |
K1011* |
probably null |
Het |
| Dip2b |
G |
A |
15: 100,055,139 (GRCm39) |
W99* |
probably null |
Het |
| Fpr-rs6 |
A |
T |
17: 20,403,168 (GRCm39) |
Y64* |
probably null |
Het |
| Fubp1 |
C |
A |
3: 151,928,573 (GRCm39) |
Y480* |
probably null |
Het |
| Gfra1 |
T |
C |
19: 58,227,682 (GRCm39) |
|
probably null |
Het |
| Gm10770 |
T |
C |
2: 150,020,831 (GRCm39) |
T229A |
probably benign |
Het |
| Gm826 |
A |
C |
2: 160,153,913 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,197,095 (GRCm39) |
V217I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,488,494 (GRCm39) |
I3595T |
probably benign |
Het |
| Lmln |
A |
G |
16: 32,930,226 (GRCm39) |
E561G |
probably benign |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,028,135 (GRCm39) |
T319A |
probably damaging |
Het |
| Mcm6 |
G |
T |
1: 128,271,196 (GRCm39) |
H474Q |
probably damaging |
Het |
| Mn1 |
C |
G |
5: 111,568,533 (GRCm39) |
N834K |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Niban3 |
T |
C |
8: 72,057,704 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,647 (GRCm39) |
D44G |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,324,789 (GRCm39) |
G1235R |
probably damaging |
Het |
| Olfml2a |
C |
T |
2: 38,850,306 (GRCm39) |
T674I |
probably benign |
Het |
| Or4f58 |
A |
G |
2: 111,852,112 (GRCm39) |
L29P |
possibly damaging |
Het |
| Pgap6 |
A |
G |
17: 26,336,837 (GRCm39) |
R252G |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,942,488 (GRCm39) |
A1779V |
probably benign |
Het |
| Ppil3 |
T |
A |
1: 58,470,481 (GRCm39) |
D123V |
probably damaging |
Het |
| Prr23a3 |
A |
G |
9: 98,747,190 (GRCm39) |
E48G |
probably damaging |
Het |
| Prr5l |
T |
C |
2: 101,577,094 (GRCm39) |
E110G |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,149,396 (GRCm39) |
T839M |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,033,773 (GRCm39) |
Q544* |
probably null |
Het |
| Riok3 |
C |
A |
18: 12,281,936 (GRCm39) |
R302S |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,439,635 (GRCm39) |
K144E |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,480,209 (GRCm39) |
T904P |
probably damaging |
Het |
| Skint4 |
C |
T |
4: 111,977,066 (GRCm39) |
T152M |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,828,943 (GRCm39) |
I350V |
probably benign |
Het |
| Slc6a11 |
G |
T |
6: 114,108,323 (GRCm39) |
G29V |
probably benign |
Het |
| Speg |
A |
C |
1: 75,368,478 (GRCm39) |
H676P |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,648 (GRCm39) |
H227Q |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,680,404 (GRCm39) |
S399P |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,921,219 (GRCm39) |
M1264K |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,809,961 (GRCm39) |
L1119P |
possibly damaging |
Het |
| Upf2 |
A |
C |
2: 6,032,123 (GRCm39) |
T890P |
unknown |
Het |
| Upk1b |
T |
A |
16: 38,600,469 (GRCm39) |
K170N |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,886,485 (GRCm39) |
Y32F |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,272,894 (GRCm39) |
F12S |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,741 (GRCm39) |
C1915S |
possibly damaging |
Het |
| Zfp346 |
A |
C |
13: 55,261,520 (GRCm39) |
R103S |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGGTTAACATCTGCCGG -3'
(R):5'- TGCCTTGTGTAATAATAGCCTGAC -3'
Sequencing Primer
(F):5'- TTAACATCTGCCGGGGAGG -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation