Incidental Mutation 'R7681:Man2a2'
| ID |
592763 |
| 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 |
045747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R7681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80001497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1137
(I1137F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000206089]
[ENSMUST00000206807]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098346
AA Change: I1137F
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: I1137F
| 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: ENSMUST00000206089
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206807
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
T |
5: 8,899,619 (GRCm39) |
A963V |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 76,094,649 (GRCm39) |
V760A |
unknown |
Het |
| Akap13 |
T |
C |
7: 75,378,544 (GRCm39) |
F347L |
possibly damaging |
Het |
| Anapc5 |
A |
T |
5: 122,940,202 (GRCm39) |
F356L |
probably benign |
Het |
| Bmp6 |
A |
G |
13: 38,530,171 (GRCm39) |
H88R |
probably damaging |
Het |
| Cblb |
C |
A |
16: 52,025,001 (GRCm39) |
S921R |
probably damaging |
Het |
| Ccs |
T |
A |
19: 4,882,858 (GRCm39) |
|
probably null |
Het |
| Cyp20a1 |
A |
G |
1: 60,392,192 (GRCm39) |
T83A |
probably benign |
Het |
| Defa25 |
T |
A |
8: 21,574,535 (GRCm39) |
D26E |
probably benign |
Het |
| Dmwd |
T |
A |
7: 18,815,007 (GRCm39) |
N552K |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,916,012 (GRCm39) |
V4297M |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,106,996 (GRCm39) |
S47R |
probably benign |
Het |
| Fbxo41 |
A |
T |
6: 85,455,461 (GRCm39) |
C574* |
probably null |
Het |
| Fgb |
T |
C |
3: 82,957,139 (GRCm39) |
|
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 26,045,677 (GRCm39) |
T82I |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,123,095 (GRCm39) |
L262M |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,637,413 (GRCm39) |
Q380L |
probably damaging |
Het |
| Glp2r |
C |
T |
11: 67,600,505 (GRCm39) |
G448D |
probably benign |
Het |
| Gnb4 |
C |
A |
3: 32,641,902 (GRCm39) |
A242S |
possibly damaging |
Het |
| Golim4 |
T |
C |
3: 75,794,331 (GRCm39) |
|
probably null |
Het |
| Grik2 |
G |
T |
10: 49,120,476 (GRCm39) |
N604K |
probably damaging |
Het |
| Hnf1b |
T |
G |
11: 83,779,972 (GRCm39) |
I435S |
probably damaging |
Het |
| Hoxa11 |
C |
T |
6: 52,222,099 (GRCm39) |
G201S |
probably benign |
Het |
| Hpse |
A |
G |
5: 100,839,257 (GRCm39) |
S364P |
possibly damaging |
Het |
| Kif16b |
A |
T |
2: 142,598,046 (GRCm39) |
N525K |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,982,666 (GRCm39) |
C704S |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,303,354 (GRCm39) |
S322P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,765,011 (GRCm39) |
C2938* |
probably null |
Het |
| Malrd1 |
A |
G |
2: 16,222,913 (GRCm39) |
R2071G |
unknown |
Het |
| Map2k6 |
C |
T |
11: 110,388,729 (GRCm39) |
R224* |
probably null |
Het |
| Map3k4 |
G |
A |
17: 12,537,430 (GRCm39) |
P29L |
unknown |
Het |
| Morn5 |
A |
T |
2: 35,947,156 (GRCm39) |
N145Y |
possibly damaging |
Het |
| Muc20 |
T |
C |
16: 32,613,989 (GRCm39) |
T463A |
probably benign |
Het |
| Myh10 |
C |
T |
11: 68,662,762 (GRCm39) |
T642I |
probably damaging |
Het |
| Myh14 |
C |
A |
7: 44,273,572 (GRCm39) |
R1362L |
possibly damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,711 (GRCm39) |
V23L |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or13p8 |
A |
G |
4: 118,583,761 (GRCm39) |
I106V |
probably benign |
Het |
| Or4c116 |
A |
C |
2: 88,941,935 (GRCm39) |
V307G |
probably benign |
Het |
| Or5p56 |
T |
C |
7: 107,590,355 (GRCm39) |
M261T |
possibly damaging |
Het |
| Pabpn1 |
T |
C |
14: 55,135,499 (GRCm39) |
Y299H |
probably damaging |
Het |
| Pak4 |
T |
C |
7: 28,259,655 (GRCm39) |
E514G |
probably damaging |
Het |
| Ppp1r12b |
A |
C |
1: 134,793,673 (GRCm39) |
S564A |
probably benign |
Het |
| Psmc2 |
T |
C |
5: 22,008,272 (GRCm39) |
|
probably null |
Het |
| Psme4 |
A |
G |
11: 30,741,975 (GRCm39) |
Y146C |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,310,547 (GRCm39) |
D315G |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,668,976 (GRCm39) |
V24A |
possibly damaging |
Het |
| Rtel1 |
A |
T |
2: 180,964,187 (GRCm39) |
H62L |
probably damaging |
Het |
| Ruvbl1 |
G |
A |
6: 88,444,635 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,359,043 (GRCm39) |
V668A |
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,603,493 (GRCm39) |
G519E |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,454,499 (GRCm39) |
I348N |
probably benign |
Het |
| Slc6a16 |
T |
A |
7: 44,910,338 (GRCm39) |
L347Q |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,822,531 (GRCm39) |
L658H |
probably damaging |
Het |
| Spata31e4 |
C |
T |
13: 50,856,290 (GRCm39) |
P643S |
possibly damaging |
Het |
| Spidr |
C |
A |
16: 15,713,488 (GRCm39) |
G832W |
probably damaging |
Het |
| Ssrp1 |
G |
A |
2: 84,876,092 (GRCm39) |
G616E |
probably benign |
Het |
| Sult1b1 |
G |
A |
5: 87,678,495 (GRCm39) |
L110F |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,834,235 (GRCm39) |
H224L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,539,295 (GRCm39) |
E34564K |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,237,618 (GRCm39) |
D1285G |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,101,664 (GRCm39) |
E555G |
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 |
|
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 |
|
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'- GTAAGGACTGTTCCAAACGCAG -3'
(R):5'- GCACTCCGTGTAAGGAAGAAC -3'
Sequencing Primer
(F):5'- AAGGGCACAGCACAGTCTGTC -3'
(R):5'- AGGAAGAACTTACCCACTGTTAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation