Incidental Mutation 'IGL02493:Man2a2'
| ID |
295739 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Man2a2
|
| Ensembl Gene |
ENSMUSG00000038886 |
| Gene Name |
mannosidase 2, alpha 2 |
| Synonyms |
alpha mannosidase IIx, 1700052O22Rik, MX, 4931438M07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
IGL02493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80349097-80371375 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80369615 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 37
(Q37L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000205436]
[ENSMUST00000206212]
[ENSMUST00000206301]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098346
AA Change: Q37L
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: Q37L
| 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: Q37L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
G |
15: 60,016,463 (GRCm38) |
S43R |
probably benign |
Het |
| Afap1l1 |
G |
T |
18: 61,737,523 (GRCm38) |
Q595K |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,350,331 (GRCm38) |
E202G |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,404,020 (GRCm38) |
V150A |
probably damaging |
Het |
| BC037034 |
T |
C |
5: 138,263,170 (GRCm38) |
|
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,495,882 (GRCm38) |
I381T |
probably damaging |
Het |
| Best3 |
A |
T |
10: 117,024,601 (GRCm38) |
R589W |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,652,059 (GRCm38) |
|
probably benign |
Het |
| Clcn4 |
A |
C |
7: 7,284,244 (GRCm38) |
D728E |
probably damaging |
Het |
| Commd2 |
C |
A |
3: 57,651,659 (GRCm38) |
|
probably benign |
Het |
| Csrp1 |
T |
A |
1: 135,751,063 (GRCm38) |
F175L |
probably damaging |
Het |
| Eif3c |
A |
T |
7: 126,558,901 (GRCm38) |
N294K |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,694,693 (GRCm38) |
|
probably null |
Het |
| Fndc1 |
G |
T |
17: 7,775,545 (GRCm38) |
P297Q |
unknown |
Het |
| Galnt13 |
A |
G |
2: 54,880,137 (GRCm38) |
I314V |
probably benign |
Het |
| Gimap6 |
T |
A |
6: 48,702,669 (GRCm38) |
K144N |
probably damaging |
Het |
| Gm10188 |
A |
T |
1: 132,229,405 (GRCm38) |
C74* |
probably null |
Het |
| Gpatch2 |
C |
T |
1: 187,233,128 (GRCm38) |
|
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,588,419 (GRCm38) |
M39K |
probably damaging |
Het |
| Has2 |
G |
T |
15: 56,667,924 (GRCm38) |
T465K |
probably damaging |
Het |
| Homer3 |
T |
A |
8: 70,290,071 (GRCm38) |
V144D |
probably benign |
Het |
| Ift140 |
A |
T |
17: 25,087,924 (GRCm38) |
K878* |
probably null |
Het |
| Ikbip |
A |
G |
10: 91,096,594 (GRCm38) |
N367D |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,844,716 (GRCm38) |
|
probably benign |
Het |
| Isca1 |
A |
G |
13: 59,762,782 (GRCm38) |
V32A |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 25,937,520 (GRCm38) |
N288K |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,569,511 (GRCm38) |
|
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,129,192 (GRCm38) |
D717E |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,581,778 (GRCm38) |
G1037E |
probably damaging |
Het |
| Msh4 |
C |
T |
3: 153,877,908 (GRCm38) |
|
probably null |
Het |
| Mtf1 |
C |
T |
4: 124,821,319 (GRCm38) |
R246W |
probably damaging |
Het |
| Mvb12b |
A |
G |
2: 33,840,209 (GRCm38) |
S57P |
probably benign |
Het |
| Nat8f5 |
A |
G |
6: 85,817,562 (GRCm38) |
F139L |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,238,159 (GRCm38) |
F400L |
probably damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,658,389 (GRCm38) |
S248T |
possibly damaging |
Het |
| Olfr1450 |
T |
C |
19: 12,953,774 (GRCm38) |
F62L |
probably benign |
Het |
| Olfr480 |
A |
T |
7: 108,065,805 (GRCm38) |
M331K |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,300,955 (GRCm38) |
R853* |
probably null |
Het |
| Plekhh2 |
G |
A |
17: 84,606,963 (GRCm38) |
|
probably null |
Het |
| Pskh1 |
G |
A |
8: 105,929,756 (GRCm38) |
V355I |
probably benign |
Het |
| Rab31 |
A |
T |
17: 65,717,552 (GRCm38) |
M44K |
possibly damaging |
Het |
| Slc5a4b |
A |
G |
10: 76,075,015 (GRCm38) |
V329A |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,293,880 (GRCm38) |
Y76H |
probably damaging |
Het |
| Treh |
A |
T |
9: 44,682,949 (GRCm38) |
D164V |
possibly damaging |
Het |
| Trim6 |
A |
G |
7: 104,232,640 (GRCm38) |
Y366C |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,768,220 (GRCm38) |
V251A |
probably benign |
Het |
| Vmn1r35 |
T |
A |
6: 66,679,479 (GRCm38) |
N69I |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,435,706 (GRCm38) |
L2255P |
unknown |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation