Incidental Mutation 'R8296:Man2a2'
| ID |
638939 |
| 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 |
067785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R8296 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80349097-80371375 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80368908 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 68
(I68L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000205436]
[ENSMUST00000206212]
[ENSMUST00000206301]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098346
AA Change: I68L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: I68L
| 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: I68L
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (77/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,267,777 (GRCm38) |
L663Q |
probably damaging |
Het |
| 2610008E11Rik |
C |
G |
10: 79,067,734 (GRCm38) |
R249S |
probably benign |
Het |
| 6030469F06Rik |
A |
G |
12: 31,185,059 (GRCm38) |
N146S |
noncoding transcript |
Het |
| Abcb5 |
G |
A |
12: 118,874,732 (GRCm38) |
P1032S |
probably benign |
Het |
| Acvr2a |
A |
T |
2: 48,899,724 (GRCm38) |
D493V |
possibly damaging |
Het |
| Amacr |
A |
G |
15: 10,994,918 (GRCm38) |
D272G |
probably benign |
Het |
| Bach1 |
A |
C |
16: 87,729,579 (GRCm38) |
K643T |
probably damaging |
Het |
| Bmt2 |
T |
C |
6: 13,628,673 (GRCm38) |
Y337C |
probably damaging |
Het |
| Bsn |
A |
G |
9: 108,117,379 (GRCm38) |
S566P |
probably benign |
Het |
| Cass4 |
A |
C |
2: 172,427,174 (GRCm38) |
D392A |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 119,028,128 (GRCm38) |
E173G |
probably damaging |
Het |
| Ccdc166 |
G |
C |
15: 75,981,011 (GRCm38) |
A369G |
probably benign |
Het |
| Ccdc77 |
G |
A |
6: 120,331,909 (GRCm38) |
T315M |
possibly damaging |
Het |
| Ceacam10 |
C |
A |
7: 24,781,088 (GRCm38) |
H215N |
unknown |
Het |
| Ces1e |
C |
T |
8: 93,203,319 (GRCm38) |
M445I |
probably benign |
Het |
| Ces2b |
T |
G |
8: 104,836,480 (GRCm38) |
V350G |
possibly damaging |
Het |
| Chtf18 |
A |
G |
17: 25,722,191 (GRCm38) |
L611P |
probably benign |
Het |
| Col9a1 |
C |
A |
1: 24,178,299 (GRCm38) |
P19T |
unknown |
Het |
| Csf1r |
A |
T |
18: 61,117,678 (GRCm38) |
N487I |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,758,299 (GRCm38) |
H301Q |
probably damaging |
Het |
| Cyp24a1 |
G |
A |
2: 170,490,116 (GRCm38) |
T330M |
probably damaging |
Het |
| Ddb2 |
T |
C |
2: 91,212,300 (GRCm38) |
D405G |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,282,676 (GRCm38) |
F10L |
probably benign |
Het |
| Dhrs2 |
T |
A |
14: 55,240,471 (GRCm38) |
I220N |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,148,260 (GRCm38) |
D1535G |
possibly damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,503,076 (GRCm38) |
S19P |
probably benign |
Het |
| Eif3l |
A |
C |
15: 79,079,020 (GRCm38) |
E134A |
possibly damaging |
Het |
| Epb41 |
C |
A |
4: 131,937,461 (GRCm38) |
V90L |
|
Het |
| Flad1 |
A |
T |
3: 89,408,802 (GRCm38) |
V151D |
probably damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,568 (GRCm38) |
I272N |
probably benign |
Het |
| Glmp |
T |
A |
3: 88,326,273 (GRCm38) |
D178E |
probably benign |
Het |
| Gm16494 |
G |
A |
17: 47,016,824 (GRCm38) |
P45S |
probably damaging |
Het |
| Gm4553 |
T |
C |
7: 142,165,721 (GRCm38) |
D6G |
unknown |
Het |
| Grid2 |
G |
A |
6: 63,256,945 (GRCm38) |
|
probably null |
Het |
| Icmt |
A |
G |
4: 152,303,025 (GRCm38) |
M226V |
probably benign |
Het |
| Igkv5-39 |
T |
C |
6: 69,900,623 (GRCm38) |
S50G |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,895,120 (GRCm38) |
S148P |
probably damaging |
Het |
| Itga2b |
A |
C |
11: 102,461,159 (GRCm38) |
V504G |
possibly damaging |
Het |
| Krt20 |
T |
A |
11: 99,432,237 (GRCm38) |
Y253F |
probably damaging |
Het |
| Mpi |
G |
A |
9: 57,548,671 (GRCm38) |
T176I |
probably benign |
Het |
| Msh6 |
C |
T |
17: 87,986,912 (GRCm38) |
R1032C |
probably damaging |
Het |
| Myot |
C |
T |
18: 44,342,349 (GRCm38) |
T179I |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,226,589 (GRCm38) |
S946P |
|
Het |
| Notch3 |
G |
A |
17: 32,122,739 (GRCm38) |
A2013V |
probably damaging |
Het |
| Nr1d1 |
T |
C |
11: 98,771,307 (GRCm38) |
Y167C |
probably damaging |
Het |
| Olfr1090 |
A |
C |
2: 86,754,549 (GRCm38) |
L63R |
probably damaging |
Het |
| Olfr652 |
T |
A |
7: 104,564,386 (GRCm38) |
F55Y |
probably benign |
Het |
| Olfr668 |
T |
C |
7: 104,925,621 (GRCm38) |
I48V |
probably benign |
Het |
| Olfr851 |
A |
G |
9: 19,497,081 (GRCm38) |
E111G |
probably damaging |
Het |
| P4ha3 |
G |
A |
7: 100,317,102 (GRCm38) |
V485M |
probably damaging |
Het |
| Pbk |
T |
A |
14: 65,816,736 (GRCm38) |
C243* |
probably null |
Het |
| Pde4b |
T |
A |
4: 102,602,786 (GRCm38) |
L388H |
possibly damaging |
Het |
| Pecam1 |
T |
C |
11: 106,688,919 (GRCm38) |
D439G |
probably benign |
Het |
| Pknox2 |
A |
T |
9: 36,911,163 (GRCm38) |
M230K |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,600,685 (GRCm38) |
I1185V |
probably damaging |
Het |
| Polr3g |
A |
G |
13: 81,694,563 (GRCm38) |
V111A |
unknown |
Het |
| Prkcg |
G |
C |
7: 3,329,064 (GRCm38) |
E562D |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,047,380 (GRCm38) |
A318D |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 108,062,890 (GRCm38) |
V768D |
probably damaging |
Het |
| Rps16 |
T |
A |
7: 28,352,583 (GRCm38) |
S129T |
probably benign |
Het |
| Scg2 |
A |
T |
1: 79,435,505 (GRCm38) |
N460K |
probably benign |
Het |
| Sct |
T |
C |
7: 141,278,894 (GRCm38) |
S42G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,727,543 (GRCm38) |
N151K |
probably benign |
Het |
| Syce1l |
C |
A |
8: 113,654,089 (GRCm38) |
D144E |
possibly damaging |
Het |
| Syt17 |
T |
C |
7: 118,436,846 (GRCm38) |
Y99C |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,139,774 (GRCm38) |
N520D |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,595,456 (GRCm38) |
S76G |
probably benign |
Het |
| Tmem63a |
G |
T |
1: 180,961,120 (GRCm38) |
V341F |
probably benign |
Het |
| Trim5 |
A |
G |
7: 104,265,786 (GRCm38) |
S359P |
probably damaging |
Het |
| Tst |
A |
T |
15: 78,399,820 (GRCm38) |
V269E |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,954,362 (GRCm38) |
I808F |
probably null |
Het |
| Ugt3a2 |
T |
A |
15: 9,361,938 (GRCm38) |
Y267N |
probably benign |
Het |
| Wwc1 |
A |
T |
11: 35,870,557 (GRCm38) |
|
probably benign |
Het |
| Zfp36l2 |
G |
T |
17: 84,187,124 (GRCm38) |
N28K |
probably damaging |
Het |
| Zfp57 |
A |
G |
17: 37,010,244 (GRCm38) |
D330G |
probably benign |
Het |
| Zgrf1 |
C |
A |
3: 127,583,995 (GRCm38) |
S963Y |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,541,775 (GRCm38) |
K197E |
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 |
|
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 |
|
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 |
|
|
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'- GTAGTTCTGGCTTCTGACCC -3'
(R):5'- GCCTTGTGTAATAATAGCCTGAC -3'
Sequencing Primer
(F):5'- GGCTTCTGACCCCGTCC -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation