Incidental Mutation 'R7848:Man2a2'
| ID |
606731 |
| 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 |
045902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R7848 (G1)
|
| Quality Score |
193.009 |
|
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 |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
T |
5: 113,192,141 (GRCm38) |
A2T |
probably damaging |
Het |
| Abca3 |
G |
T |
17: 24,384,532 (GRCm38) |
G566V |
probably damaging |
Het |
| Aff4 |
C |
A |
11: 53,404,512 (GRCm38) |
N846K |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,499,843 (GRCm38) |
R714Q |
probably benign |
Het |
| BC027072 |
T |
C |
17: 71,749,193 (GRCm38) |
D1163G |
probably benign |
Het |
| Cbln1 |
T |
C |
8: 87,471,700 (GRCm38) |
T126A |
probably damaging |
Het |
| Ccdc84 |
A |
G |
9: 44,413,642 (GRCm38) |
S139P |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,396,123 (GRCm38) |
S446P |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,841,508 (GRCm38) |
Q676R |
probably damaging |
Het |
| Col26a1 |
T |
C |
5: 136,747,053 (GRCm38) |
K349E |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,928,186 (GRCm38) |
I1174V |
unknown |
Het |
| Cyth1 |
TGGGCAA |
T |
11: 118,183,923 (GRCm38) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,840,490 (GRCm38) |
D64G |
possibly damaging |
Het |
| Dnajc15 |
T |
C |
14: 77,840,203 (GRCm38) |
H114R |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,316,526 (GRCm38) |
F1390S |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,161,877 (GRCm38) |
I116T |
possibly damaging |
Het |
| Fam120b |
T |
C |
17: 15,405,774 (GRCm38) |
V463A |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,887,851 (GRCm38) |
M298V |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,905,602 (GRCm38) |
M1197K |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,650,601 (GRCm38) |
I127F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,917 (GRCm38) |
|
probably benign |
Het |
| Gabpb2 |
A |
T |
3: 95,190,648 (GRCm38) |
V238E |
probably damaging |
Het |
| Gnpat |
C |
A |
8: 124,886,891 (GRCm38) |
Q626K |
possibly damaging |
Het |
| Gstm7 |
A |
T |
3: 107,928,586 (GRCm38) |
|
probably null |
Het |
| Gys2 |
G |
T |
6: 142,446,015 (GRCm38) |
S507* |
probably null |
Het |
| Ippk |
T |
A |
13: 49,443,496 (GRCm38) |
|
probably null |
Het |
| Itga8 |
T |
A |
2: 12,191,737 (GRCm38) |
N623I |
probably damaging |
Het |
| Kcnb1 |
A |
G |
2: 167,106,268 (GRCm38) |
F220S |
probably damaging |
Het |
| Kiz |
T |
A |
2: 146,889,180 (GRCm38) |
S197T |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,108,100 (GRCm38) |
N479S |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 31,958,248 (GRCm38) |
*60W |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,633,854 (GRCm38) |
N124S |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,905,871 (GRCm38) |
V373A |
probably damaging |
Het |
| Mapkapk5 |
A |
G |
5: 121,545,169 (GRCm38) |
I11T |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,938,379 (GRCm38) |
Q967* |
probably null |
Het |
| Mthfd1l |
A |
G |
10: 4,083,739 (GRCm38) |
T709A |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,645,921 (GRCm38) |
T939A |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,490,379 (GRCm38) |
H394Y |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,648,418 (GRCm38) |
N161K |
possibly damaging |
Het |
| Nr2c1 |
C |
T |
10: 94,190,646 (GRCm38) |
S461L |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,668,283 (GRCm38) |
E323G |
probably damaging |
Het |
| Nufip1 |
G |
A |
14: 76,114,221 (GRCm38) |
R172H |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,203,905 (GRCm38) |
T1705A |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,222,780 (GRCm38) |
R215C |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,592,433 (GRCm38) |
L99P |
probably damaging |
Het |
| Olfr1349 |
T |
C |
7: 6,514,862 (GRCm38) |
D189G |
probably damaging |
Het |
| Olfr644 |
T |
A |
7: 104,068,095 (GRCm38) |
N312I |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,755,997 (GRCm38) |
S290T |
possibly damaging |
Het |
| Pklr |
T |
G |
3: 89,142,978 (GRCm38) |
I378S |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 156,096,216 (GRCm38) |
M712K |
probably benign |
Het |
| Rnase10 |
T |
C |
14: 51,009,513 (GRCm38) |
V116A |
possibly damaging |
Het |
| Scube3 |
T |
C |
17: 28,165,595 (GRCm38) |
L621P |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 72,492,436 (GRCm38) |
I51V |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,779,924 (GRCm38) |
T633A |
probably benign |
Het |
| St18 |
T |
C |
1: 6,857,445 (GRCm38) |
|
probably null |
Het |
| Tcrg-V5 |
G |
A |
13: 19,192,679 (GRCm38) |
V99I |
probably damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,202,355 (GRCm38) |
I509N |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,360,621 (GRCm38) |
K443E |
probably damaging |
Het |
| Tmem98 |
T |
G |
11: 80,819,932 (GRCm38) |
V139G |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,497,372 (GRCm38) |
E232G |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,411,226 (GRCm38) |
N39D |
possibly damaging |
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 |
|
R7522:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AATGCAGCTCAGTGCCTGTC -3'
(R):5'- TTGCCTTGTGTAATAATAGCCTGAC -3'
Sequencing Primer
(F):5'- CAGTGCCTGTCTGAGTGGGAG -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation