Incidental Mutation 'R0112:Man2a2'
| ID |
20508 |
| 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 |
038398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R0112 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80008024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 943
(A943T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000206301]
[ENSMUST00000206807]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098346
AA Change: A943T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: A943T
| 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 |
noncoding transcript
Transcript: ENSMUST00000205318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206973
|
| Meta Mutation Damage Score |
0.5652 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (86/86) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,815 (GRCm39) |
Y179F |
probably benign |
Het |
| Abcd4 |
A |
G |
12: 84,659,673 (GRCm39) |
|
probably benign |
Het |
| Abhd12b |
C |
T |
12: 70,227,791 (GRCm39) |
T191M |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 34,976,548 (GRCm39) |
E27G |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,282,902 (GRCm39) |
|
probably benign |
Het |
| Afdn |
T |
C |
17: 14,104,899 (GRCm39) |
S1186P |
probably damaging |
Het |
| Atf6b |
G |
T |
17: 34,870,600 (GRCm39) |
R351L |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,830,223 (GRCm39) |
S348P |
possibly damaging |
Het |
| Bfsp1 |
A |
C |
2: 143,669,563 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
G |
15: 88,614,586 (GRCm39) |
V103A |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,642,547 (GRCm39) |
K392N |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,321,627 (GRCm39) |
K577R |
probably damaging |
Het |
| Csmd2 |
G |
T |
4: 128,389,822 (GRCm39) |
G2186C |
probably damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
| Defb3 |
T |
A |
8: 19,343,423 (GRCm39) |
L12Q |
probably null |
Het |
| Defb7 |
G |
T |
8: 19,545,186 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,682,540 (GRCm39) |
M491K |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,965,260 (GRCm39) |
S2261G |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,263,825 (GRCm39) |
E853D |
probably benign |
Het |
| Dner |
C |
A |
1: 84,560,774 (GRCm39) |
A23S |
probably benign |
Het |
| Dock5 |
A |
C |
14: 68,057,090 (GRCm39) |
S539A |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,716,099 (GRCm39) |
F317I |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,936,638 (GRCm39) |
I539F |
possibly damaging |
Het |
| Eogt |
G |
A |
6: 97,112,245 (GRCm39) |
|
probably benign |
Het |
| Fbxo22 |
A |
G |
9: 55,130,630 (GRCm39) |
T300A |
probably benign |
Het |
| Fes |
T |
C |
7: 80,033,753 (GRCm39) |
D166G |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,648,812 (GRCm39) |
S1366P |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,777,935 (GRCm39) |
|
probably benign |
Het |
| Foxh1 |
T |
C |
15: 76,553,210 (GRCm39) |
H168R |
probably benign |
Het |
| Galnt14 |
T |
G |
17: 73,881,979 (GRCm39) |
|
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,844,482 (GRCm39) |
D2G |
probably damaging |
Het |
| Gp6 |
C |
A |
7: 4,373,183 (GRCm39) |
A247S |
probably benign |
Het |
| Gp6 |
G |
C |
7: 4,374,626 (GRCm39) |
P232A |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,340 (GRCm39) |
T198A |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,563,774 (GRCm39) |
|
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,311 (GRCm39) |
E180G |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,429 (GRCm39) |
V1768A |
probably benign |
Het |
| Ints10 |
A |
T |
8: 69,279,954 (GRCm39) |
T694S |
probably damaging |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,709 (GRCm39) |
Y131F |
probably damaging |
Het |
| Litaf |
G |
T |
16: 10,784,375 (GRCm39) |
T45K |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,124,629 (GRCm39) |
R363* |
probably null |
Het |
| Lrrc37a |
A |
T |
11: 103,391,739 (GRCm39) |
Y1229N |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,565,380 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Naalad2 |
G |
T |
9: 18,262,743 (GRCm39) |
Y384* |
probably null |
Het |
| Nat2 |
C |
T |
8: 67,954,378 (GRCm39) |
Q163* |
probably null |
Het |
| Nell2 |
A |
G |
15: 95,329,562 (GRCm39) |
|
probably benign |
Het |
| Nphp3 |
C |
T |
9: 103,914,547 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,869 (GRCm39) |
S46G |
possibly damaging |
Het |
| Or2y13 |
A |
T |
11: 49,414,961 (GRCm39) |
H137L |
possibly damaging |
Het |
| Or52x1 |
A |
T |
7: 104,852,866 (GRCm39) |
M228K |
probably benign |
Het |
| Or5b94 |
C |
T |
19: 12,652,121 (GRCm39) |
T184I |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,390 (GRCm39) |
A63E |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,245,714 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,544,761 (GRCm39) |
C629R |
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,454,978 (GRCm39) |
T620A |
probably benign |
Het |
| Rskr |
T |
C |
11: 78,182,507 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,376,031 (GRCm39) |
D410A |
possibly damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,511,934 (GRCm39) |
|
probably benign |
Het |
| Slc19a1 |
T |
C |
10: 76,877,999 (GRCm39) |
I178T |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,837 (GRCm39) |
Y390F |
probably benign |
Het |
| Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
| Tbc1d9 |
C |
A |
8: 83,991,466 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
G |
A |
3: 83,847,894 (GRCm39) |
Q324* |
probably null |
Het |
| Trf |
A |
G |
9: 103,104,155 (GRCm39) |
|
probably benign |
Het |
| Trp53 |
T |
G |
11: 69,479,505 (GRCm39) |
Y202D |
probably damaging |
Het |
| Trpv1 |
T |
A |
11: 73,144,098 (GRCm39) |
M618K |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,759,571 (GRCm39) |
Y2250* |
probably null |
Het |
| Ttc3 |
A |
G |
16: 94,186,181 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
T |
G |
9: 18,321,083 (GRCm39) |
S204A |
probably benign |
Het |
| Uck2 |
A |
T |
1: 167,055,340 (GRCm39) |
Y203N |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,562,209 (GRCm39) |
L1280* |
probably null |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,609 (GRCm39) |
H146L |
possibly damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,897 (GRCm39) |
M209V |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,990,991 (GRCm39) |
T790I |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,463,866 (GRCm39) |
R808L |
probably benign |
Het |
| Zbtb7c |
A |
T |
18: 76,269,962 (GRCm39) |
S17C |
probably damaging |
Het |
| Zfp811 |
C |
T |
17: 33,016,738 (GRCm39) |
R434Q |
probably damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,705,689 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- CTGTAACCACTTAAGAGCTGCCTCC -3'
(R):5'- CTTCAGAACATAAACCAGGCTGGACTC -3'
Sequencing Primer
(F):5'- ccagcattcaggaggcag -3'
(R):5'- ACCAGGCTGGACTCTAACTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation