Incidental Mutation 'R7524:Man2a2'
| ID |
582850 |
| 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 |
045596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R7524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 80018613 bp (GRCm39)
|
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
C |
T |
8: 56,325,395 (GRCm39) |
C353Y |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,906,543 (GRCm39) |
E452V |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,800,415 (GRCm39) |
D45G |
probably benign |
Het |
| Arhgap17 |
G |
A |
7: 122,905,643 (GRCm39) |
P334L |
probably damaging |
Het |
| Asns |
G |
T |
6: 7,677,259 (GRCm39) |
|
probably null |
Het |
| Bend7 |
A |
G |
2: 4,804,791 (GRCm39) |
T424A |
probably benign |
Het |
| Btbd2 |
C |
T |
10: 80,482,278 (GRCm39) |
E241K |
probably damaging |
Het |
| Commd2 |
A |
C |
3: 57,557,569 (GRCm39) |
L99W |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,279,025 (GRCm39) |
D473V |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,347 (GRCm39) |
F423L |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,340,146 (GRCm39) |
F390L |
probably damaging |
Het |
| Dcaf5 |
T |
A |
12: 80,423,470 (GRCm39) |
Q234L |
probably benign |
Het |
| Dennd3 |
T |
G |
15: 73,396,095 (GRCm39) |
Y201* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,012,307 (GRCm39) |
D485G |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,297,212 (GRCm39) |
T1469S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,095,082 (GRCm39) |
D2167G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,330,974 (GRCm39) |
V4921A |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,387,020 (GRCm39) |
Y736H |
probably damaging |
Het |
| Eri2 |
C |
G |
7: 119,384,972 (GRCm39) |
V510L |
probably benign |
Het |
| Eya2 |
G |
A |
2: 165,611,246 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
G |
T |
2: 130,458,048 (GRCm39) |
Q181K |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,802,391 (GRCm39) |
S1440P |
probably damaging |
Het |
| Fkbp9 |
G |
A |
6: 56,845,725 (GRCm39) |
V354M |
probably damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,271,181 (GRCm39) |
S304T |
probably benign |
Het |
| Gtf2a2 |
T |
A |
9: 69,922,629 (GRCm39) |
Y3* |
probably null |
Het |
| Hagh |
G |
A |
17: 25,080,314 (GRCm39) |
V226I |
probably benign |
Het |
| Hemk1 |
T |
A |
9: 107,205,484 (GRCm39) |
I293F |
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,944,523 (GRCm39) |
E262G |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,511,793 (GRCm39) |
T983S |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,989,340 (GRCm39) |
H7Q |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,896,460 (GRCm39) |
Q94L |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,310,485 (GRCm39) |
D224G |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,742 (GRCm39) |
S289T |
possibly damaging |
Het |
| Map1a |
G |
A |
2: 121,120,293 (GRCm39) |
V60M |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,536,138 (GRCm39) |
F536I |
possibly damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,200 (GRCm39) |
T453A |
unknown |
Het |
| Muc3a |
A |
C |
5: 137,245,020 (GRCm39) |
I151S |
probably benign |
Het |
| Myorg |
C |
A |
4: 41,498,779 (GRCm39) |
V284L |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Or4c112 |
T |
A |
2: 88,854,315 (GRCm39) |
I11L |
probably benign |
Het |
| Or4c125 |
A |
G |
2: 89,170,221 (GRCm39) |
C142R |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,727,750 (GRCm39) |
I224V |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,701 (GRCm39) |
M145L |
probably benign |
Het |
| Or6z7 |
T |
C |
7: 6,483,586 (GRCm39) |
N190D |
probably benign |
Het |
| Or7a42 |
T |
A |
10: 78,791,325 (GRCm39) |
Y95* |
probably null |
Het |
| Pcdhgb4 |
A |
T |
18: 37,854,661 (GRCm39) |
D352V |
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,263,948 (GRCm39) |
F235L |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,728,317 (GRCm39) |
I2392V |
unknown |
Het |
| Pld1 |
A |
T |
3: 28,078,470 (GRCm39) |
D43V |
possibly damaging |
Het |
| Ppp1r1b |
C |
A |
11: 98,241,720 (GRCm39) |
A51D |
possibly damaging |
Het |
| Prr23a1 |
T |
A |
9: 98,724,917 (GRCm39) |
L93H |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,584 (GRCm39) |
D61G |
probably benign |
Het |
| Rab40b |
T |
A |
11: 121,278,878 (GRCm39) |
I31F |
probably damaging |
Het |
| Rasd2 |
T |
C |
8: 75,948,709 (GRCm39) |
F212L |
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,841,821 (GRCm39) |
I1006V |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,074,371 (GRCm39) |
E59G |
probably benign |
Het |
| Slc22a2 |
G |
T |
17: 12,824,944 (GRCm39) |
V269L |
possibly damaging |
Het |
| Slc2a1 |
C |
T |
4: 118,989,809 (GRCm39) |
P149S |
probably damaging |
Het |
| Smad4 |
T |
G |
18: 73,808,942 (GRCm39) |
E108D |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,693 (GRCm39) |
I648K |
probably benign |
Het |
| Suclg1 |
A |
T |
6: 73,240,824 (GRCm39) |
I118F |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,188,160 (GRCm39) |
C869S |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,990 (GRCm39) |
I1149T |
probably benign |
Het |
| Tfr2 |
T |
A |
5: 137,569,751 (GRCm39) |
Y82* |
probably null |
Het |
| Tfr2 |
G |
T |
5: 137,581,751 (GRCm39) |
V613L |
probably benign |
Het |
| Tg |
A |
T |
15: 66,568,010 (GRCm39) |
M1305L |
probably benign |
Het |
| Tmem176a |
A |
T |
6: 48,821,039 (GRCm39) |
M170L |
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,342,230 (GRCm39) |
N684S |
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,942,214 (GRCm39) |
I212T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
| Uqcrc1 |
C |
T |
9: 108,765,827 (GRCm39) |
T14M |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,848 (GRCm39) |
I219V |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,577 (GRCm39) |
H800R |
probably benign |
Het |
| Vmn2r76 |
C |
T |
7: 85,879,374 (GRCm39) |
G309R |
probably benign |
Het |
| Xpc |
A |
T |
6: 91,476,513 (GRCm39) |
C529S |
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,355,688 (GRCm39) |
S254T |
possibly damaging |
Het |
| Zfp746 |
T |
C |
6: 48,041,823 (GRCm39) |
H301R |
possibly damaging |
Het |
| Zyg11a |
A |
T |
4: 108,049,271 (GRCm39) |
I490N |
probably damaging |
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 |
|
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 |
|
|
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'- AATGCAGCTCAGTGCCTGTC -3'
(R):5'- GCCTTGTGTAATAATAGCCTGAC -3'
Sequencing Primer
(F):5'- CAGTGCCTGTCTGAGTGGGAG -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation