Incidental Mutation 'R8296:Man2a2'
ID |
638939 |
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 |
067785-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R8296 (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 80018656 bp (GRCm39)
|
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: 77,415,896 (GRCm39) |
L663Q |
probably damaging |
Het |
2610008E11Rik |
C |
G |
10: 78,903,568 (GRCm39) |
R249S |
probably benign |
Het |
6030469F06Rik |
A |
G |
12: 31,235,058 (GRCm39) |
N146S |
noncoding transcript |
Het |
Abcb5 |
G |
A |
12: 118,838,467 (GRCm39) |
P1032S |
probably benign |
Het |
Acvr2a |
A |
T |
2: 48,789,736 (GRCm39) |
D493V |
possibly damaging |
Het |
Amacr |
A |
G |
15: 10,995,004 (GRCm39) |
D272G |
probably benign |
Het |
Bach1 |
A |
C |
16: 87,526,467 (GRCm39) |
K643T |
probably damaging |
Het |
Bmt2 |
T |
C |
6: 13,628,672 (GRCm39) |
Y337C |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,994,578 (GRCm39) |
S566P |
probably benign |
Het |
Cass4 |
A |
C |
2: 172,269,094 (GRCm39) |
D392A |
probably benign |
Het |
Cbx2 |
A |
G |
11: 118,918,954 (GRCm39) |
E173G |
probably damaging |
Het |
Ccdc166 |
G |
C |
15: 75,852,860 (GRCm39) |
A369G |
probably benign |
Het |
Ccdc77 |
G |
A |
6: 120,308,870 (GRCm39) |
T315M |
possibly damaging |
Het |
Ceacam10 |
C |
A |
7: 24,480,513 (GRCm39) |
H215N |
unknown |
Het |
Ces1e |
C |
T |
8: 93,929,947 (GRCm39) |
M445I |
probably benign |
Het |
Ces2b |
T |
G |
8: 105,563,112 (GRCm39) |
V350G |
possibly damaging |
Het |
Chtf18 |
A |
G |
17: 25,941,165 (GRCm39) |
L611P |
probably benign |
Het |
Col9a1 |
C |
A |
1: 24,217,380 (GRCm39) |
P19T |
unknown |
Het |
Csf1r |
A |
T |
18: 61,250,750 (GRCm39) |
N487I |
probably damaging |
Het |
Csl |
A |
T |
10: 99,594,161 (GRCm39) |
H301Q |
probably damaging |
Het |
Cyp24a1 |
G |
A |
2: 170,332,036 (GRCm39) |
T330M |
probably damaging |
Het |
Ddb2 |
T |
C |
2: 91,042,645 (GRCm39) |
D405G |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,110,241 (GRCm39) |
F10L |
probably benign |
Het |
Dhrs2 |
T |
A |
14: 55,477,928 (GRCm39) |
I220N |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,198,328 (GRCm39) |
D1535G |
possibly damaging |
Het |
Dpy19l1 |
A |
G |
9: 24,414,372 (GRCm39) |
S19P |
probably benign |
Het |
Eif3l |
A |
C |
15: 78,963,220 (GRCm39) |
E134A |
possibly damaging |
Het |
Epb41 |
C |
A |
4: 131,664,772 (GRCm39) |
V90L |
|
Het |
Flad1 |
A |
T |
3: 89,316,109 (GRCm39) |
V151D |
probably damaging |
Het |
Gja10 |
A |
T |
4: 32,601,568 (GRCm39) |
I272N |
probably benign |
Het |
Glmp |
T |
A |
3: 88,233,580 (GRCm39) |
D178E |
probably benign |
Het |
Gm16494 |
G |
A |
17: 47,327,750 (GRCm39) |
P45S |
probably damaging |
Het |
Gm4553 |
T |
C |
7: 141,719,458 (GRCm39) |
D6G |
unknown |
Het |
Grid2 |
G |
A |
6: 63,233,929 (GRCm39) |
|
probably null |
Het |
Icmt |
A |
G |
4: 152,387,482 (GRCm39) |
M226V |
probably benign |
Het |
Igkv5-39 |
T |
C |
6: 69,877,607 (GRCm39) |
S50G |
probably benign |
Het |
Ints5 |
T |
C |
19: 8,872,484 (GRCm39) |
S148P |
probably damaging |
Het |
Itga2b |
A |
C |
11: 102,351,985 (GRCm39) |
V504G |
possibly damaging |
Het |
Krt20 |
T |
A |
11: 99,323,063 (GRCm39) |
Y253F |
probably damaging |
Het |
Mpi |
G |
A |
9: 57,455,954 (GRCm39) |
T176I |
probably benign |
Het |
Msh6 |
C |
T |
17: 88,294,340 (GRCm39) |
R1032C |
probably damaging |
Het |
Myot |
C |
T |
18: 44,475,416 (GRCm39) |
T179I |
probably damaging |
Het |
Neb |
A |
G |
2: 52,116,601 (GRCm39) |
S946P |
|
Het |
Notch3 |
G |
A |
17: 32,341,713 (GRCm39) |
A2013V |
probably damaging |
Het |
Nr1d1 |
T |
C |
11: 98,662,133 (GRCm39) |
Y167C |
probably damaging |
Het |
Or52h7 |
T |
A |
7: 104,213,593 (GRCm39) |
F55Y |
probably benign |
Het |
Or52n2c |
T |
C |
7: 104,574,828 (GRCm39) |
I48V |
probably benign |
Het |
Or7g32 |
A |
G |
9: 19,408,377 (GRCm39) |
E111G |
probably damaging |
Het |
Or8k40 |
A |
C |
2: 86,584,893 (GRCm39) |
L63R |
probably damaging |
Het |
P4ha3 |
G |
A |
7: 99,966,309 (GRCm39) |
V485M |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,054,185 (GRCm39) |
C243* |
probably null |
Het |
Pde4b |
T |
A |
4: 102,459,983 (GRCm39) |
L388H |
possibly damaging |
Het |
Pecam1 |
T |
C |
11: 106,579,745 (GRCm39) |
D439G |
probably benign |
Het |
Pknox2 |
A |
T |
9: 36,822,459 (GRCm39) |
M230K |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,908,113 (GRCm39) |
I1185V |
probably damaging |
Het |
Polr3g |
A |
G |
13: 81,842,682 (GRCm39) |
V111A |
unknown |
Het |
Prkcg |
G |
C |
7: 3,377,580 (GRCm39) |
E562D |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rnf123 |
A |
T |
9: 107,940,089 (GRCm39) |
V768D |
probably damaging |
Het |
Rps16 |
T |
A |
7: 28,052,008 (GRCm39) |
S129T |
probably benign |
Het |
Scg2 |
A |
T |
1: 79,413,222 (GRCm39) |
N460K |
probably benign |
Het |
Sct |
T |
C |
7: 140,858,807 (GRCm39) |
S42G |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,727,629 (GRCm39) |
N151K |
probably benign |
Het |
Syce1l |
C |
A |
8: 114,380,721 (GRCm39) |
D144E |
possibly damaging |
Het |
Syt17 |
T |
C |
7: 118,036,069 (GRCm39) |
Y99C |
probably damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,287,640 (GRCm39) |
N520D |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,523,193 (GRCm39) |
S76G |
probably benign |
Het |
Tmem63a |
G |
T |
1: 180,788,685 (GRCm39) |
V341F |
probably benign |
Het |
Trim5 |
A |
G |
7: 103,914,993 (GRCm39) |
S359P |
probably damaging |
Het |
Tst |
A |
T |
15: 78,284,020 (GRCm39) |
V269E |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,784,706 (GRCm39) |
I808F |
probably null |
Het |
Ugt3a1 |
T |
A |
15: 9,362,024 (GRCm39) |
Y267N |
probably benign |
Het |
Wwc1 |
A |
T |
11: 35,761,384 (GRCm39) |
|
probably benign |
Het |
Zfp36l2 |
G |
T |
17: 84,494,552 (GRCm39) |
N28K |
probably damaging |
Het |
Zfp57 |
A |
G |
17: 37,321,136 (GRCm39) |
D330G |
probably benign |
Het |
Zgrf1 |
C |
A |
3: 127,377,644 (GRCm39) |
S963Y |
probably damaging |
Het |
Zranb2 |
A |
G |
3: 157,247,412 (GRCm39) |
K197E |
unknown |
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 |
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 |
|
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'- GTAGTTCTGGCTTCTGACCC -3'
(R):5'- GCCTTGTGTAATAATAGCCTGAC -3'
Sequencing Primer
(F):5'- GGCTTCTGACCCCGTCC -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'
|
Posted On |
2020-07-28 |