Incidental Mutation 'R2090:Man2a2'
ID |
231705 |
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 |
040095-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R2090 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 80013858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000206301]
[ENSMUST00000206807]
|
AlphaFold |
Q8BRK9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098346
|
SMART Domains |
Protein: ENSMUSP00000095949 Gene: ENSMUSG00000038886
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: ENSMUST00000206973
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206917
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (67/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
G |
8: 25,391,456 (GRCm39) |
|
probably null |
Het |
Adcy7 |
A |
T |
8: 89,042,485 (GRCm39) |
T451S |
probably damaging |
Het |
Adgrg3 |
A |
T |
8: 95,766,558 (GRCm39) |
T410S |
possibly damaging |
Het |
Alg11 |
G |
T |
8: 22,555,646 (GRCm39) |
L302F |
possibly damaging |
Het |
Ankrd17 |
A |
G |
5: 90,445,905 (GRCm39) |
V310A |
possibly damaging |
Het |
Atg16l2 |
C |
T |
7: 100,942,575 (GRCm39) |
|
probably null |
Het |
B3gnt2 |
A |
G |
11: 22,786,291 (GRCm39) |
V299A |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,969,791 (GRCm39) |
N4258S |
probably benign |
Het |
C2cd4d |
A |
G |
3: 94,271,321 (GRCm39) |
K196E |
probably benign |
Het |
Calhm6 |
A |
G |
10: 34,002,358 (GRCm39) |
S242P |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,281,827 (GRCm39) |
K111E |
probably damaging |
Het |
Crtam |
T |
C |
9: 40,895,612 (GRCm39) |
Q41R |
possibly damaging |
Het |
Cspp1 |
A |
G |
1: 10,160,493 (GRCm39) |
K560R |
possibly damaging |
Het |
Dcaf15 |
A |
T |
8: 84,824,400 (GRCm39) |
Y571* |
probably null |
Het |
Defa39 |
A |
T |
8: 22,192,805 (GRCm39) |
W64R |
possibly damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,304,344 (GRCm39) |
Y99C |
probably benign |
Het |
Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
Enpp6 |
A |
T |
8: 47,518,405 (GRCm39) |
|
probably null |
Het |
Foxf2 |
T |
A |
13: 31,810,824 (GRCm39) |
D254E |
probably benign |
Het |
Gjb5 |
T |
C |
4: 127,249,794 (GRCm39) |
N117D |
probably benign |
Het |
Glmn |
G |
A |
5: 107,709,794 (GRCm39) |
L337F |
probably damaging |
Het |
Gsdmc2 |
T |
A |
15: 63,698,675 (GRCm39) |
Y307F |
probably benign |
Het |
Gsdmc3 |
T |
A |
15: 63,738,631 (GRCm39) |
M144L |
probably benign |
Het |
Ibtk |
A |
G |
9: 85,603,046 (GRCm39) |
I653T |
probably benign |
Het |
Il24 |
T |
G |
1: 130,812,574 (GRCm39) |
D99A |
possibly damaging |
Het |
Intu |
A |
G |
3: 40,637,966 (GRCm39) |
Q484R |
probably benign |
Het |
Iqca1l |
A |
G |
5: 24,755,674 (GRCm39) |
S283P |
probably benign |
Het |
Lsp1 |
T |
C |
7: 142,045,544 (GRCm39) |
|
probably benign |
Het |
Mad1l1 |
A |
G |
5: 139,995,011 (GRCm39) |
S672P |
probably benign |
Het |
Morc3 |
C |
A |
16: 93,663,341 (GRCm39) |
H515N |
probably benign |
Het |
Nav1 |
T |
C |
1: 135,534,903 (GRCm39) |
|
probably benign |
Het |
Ndor1 |
A |
G |
2: 25,139,230 (GRCm39) |
L247P |
probably damaging |
Het |
Nfkbiz |
A |
T |
16: 55,636,818 (GRCm39) |
F494L |
probably benign |
Het |
Nr1d1 |
G |
A |
11: 98,661,436 (GRCm39) |
P277S |
probably damaging |
Het |
Nrg2 |
T |
C |
18: 36,151,496 (GRCm39) |
D682G |
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Oasl1 |
G |
A |
5: 115,073,993 (GRCm39) |
D301N |
probably damaging |
Het |
Or10ag56 |
A |
T |
2: 87,139,762 (GRCm39) |
I230F |
probably benign |
Het |
Or14a258 |
A |
T |
7: 86,035,289 (GRCm39) |
I193N |
probably benign |
Het |
Or5h26 |
A |
G |
16: 58,988,503 (GRCm39) |
M1T |
probably null |
Het |
Palmd |
A |
G |
3: 116,721,083 (GRCm39) |
S123P |
probably damaging |
Het |
Patj |
A |
G |
4: 98,325,560 (GRCm39) |
|
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,161,655 (GRCm39) |
D162G |
probably benign |
Het |
Plppr5 |
A |
G |
3: 117,369,520 (GRCm39) |
D59G |
possibly damaging |
Het |
Pmvk |
A |
C |
3: 89,369,189 (GRCm39) |
R11S |
possibly damaging |
Het |
Pnliprp1 |
A |
G |
19: 58,728,901 (GRCm39) |
T363A |
probably benign |
Het |
Poll |
A |
T |
19: 45,547,277 (GRCm39) |
I65N |
probably benign |
Het |
Prox1 |
T |
A |
1: 189,893,009 (GRCm39) |
S479C |
probably damaging |
Het |
Prss50 |
A |
T |
9: 110,691,361 (GRCm39) |
S222C |
probably damaging |
Het |
Rasa3 |
A |
C |
8: 13,632,381 (GRCm39) |
|
probably benign |
Het |
Sec14l3 |
T |
C |
11: 4,025,481 (GRCm39) |
V335A |
probably benign |
Het |
Setbp1 |
C |
T |
18: 78,899,935 (GRCm39) |
S1244N |
probably benign |
Het |
Sgcg |
A |
T |
14: 61,483,213 (GRCm39) |
F63I |
probably damaging |
Het |
Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
Slc2a13 |
T |
A |
15: 91,400,695 (GRCm39) |
I176F |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,339,987 (GRCm39) |
T432A |
probably benign |
Het |
Snx25 |
G |
A |
8: 46,509,150 (GRCm39) |
P478L |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,879,882 (GRCm39) |
H1151Q |
probably damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,673 (GRCm39) |
K795R |
possibly damaging |
Het |
Tmem108 |
G |
A |
9: 103,361,976 (GRCm39) |
L537F |
possibly damaging |
Het |
Ubr3 |
T |
C |
2: 69,766,361 (GRCm39) |
Y410H |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,555,055 (GRCm39) |
|
probably null |
Het |
Vmn1r224 |
T |
C |
17: 20,639,524 (GRCm39) |
Y34H |
probably benign |
Het |
Zeb1 |
T |
C |
18: 5,766,458 (GRCm39) |
V323A |
possibly damaging |
Het |
Zfp652 |
A |
G |
11: 95,644,834 (GRCm39) |
D240G |
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,195,996 (GRCm39) |
C152* |
probably null |
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 |
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'- ACTCAGGCTTGCTGTTGAGG -3'
(R):5'- TGTGCGAACCCACATTTGC -3'
Sequencing Primer
(F):5'- TTGAGGAAGTCAAAGAGCCGC -3'
(R):5'- AGTTCCTCAGTTGAAGCCAG -3'
|
Posted On |
2014-09-18 |