Incidental Mutation 'R7843:Man2a2'
| ID |
606442 |
| 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 |
045897-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R7843 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
T |
C |
17: 36,270,135 (GRCm39) |
D641G |
possibly damaging |
Het |
| Adam1b |
A |
T |
5: 121,639,500 (GRCm39) |
I515N |
probably damaging |
Het |
| Adamtsl5 |
A |
G |
10: 80,178,757 (GRCm39) |
V207A |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,390,395 (GRCm39) |
I143V |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,822,788 (GRCm39) |
T486S |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,114,831 (GRCm39) |
I725V |
probably benign |
Het |
| Blmh |
A |
G |
11: 76,837,139 (GRCm39) |
N29D |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,837,886 (GRCm39) |
V832D |
|
Het |
| Ccdc191 |
T |
A |
16: 43,779,699 (GRCm39) |
L777M |
probably damaging |
Het |
| Ccdc74a |
C |
G |
16: 17,464,613 (GRCm39) |
H45Q |
|
Het |
| Cenpe |
T |
A |
3: 134,938,720 (GRCm39) |
Y517* |
probably null |
Het |
| Cep290 |
G |
T |
10: 100,352,050 (GRCm39) |
R752L |
possibly damaging |
Het |
| Cers5 |
A |
T |
15: 99,670,212 (GRCm39) |
W17R |
unknown |
Het |
| Chpf |
T |
C |
1: 75,454,931 (GRCm39) |
|
probably benign |
Het |
| Chst5 |
C |
A |
8: 112,617,204 (GRCm39) |
A139S |
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,974,597 (GRCm39) |
D44V |
probably benign |
Het |
| Cstf1 |
T |
C |
2: 172,219,920 (GRCm39) |
Y344H |
probably damaging |
Het |
| D7Ertd443e |
A |
C |
7: 133,950,824 (GRCm39) |
M283R |
possibly damaging |
Het |
| Dclk1 |
T |
A |
3: 55,163,298 (GRCm39) |
V130D |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,626,830 (GRCm39) |
V360M |
probably damaging |
Het |
| Dvl2 |
A |
G |
11: 69,899,612 (GRCm39) |
N518S |
probably benign |
Het |
| Eif2ak2 |
T |
A |
17: 79,176,203 (GRCm39) |
K231N |
probably benign |
Het |
| Elovl4 |
T |
C |
9: 83,670,324 (GRCm39) |
R123G |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,772,931 (GRCm39) |
V562A |
probably damaging |
Het |
| F13a1 |
A |
T |
13: 37,209,745 (GRCm39) |
N73K |
probably benign |
Het |
| Gcc2 |
C |
A |
10: 58,103,843 (GRCm39) |
Q90K |
possibly damaging |
Het |
| Gnpda1 |
A |
T |
18: 38,461,952 (GRCm39) |
S282T |
probably benign |
Het |
| Gpatch1 |
G |
T |
7: 34,980,879 (GRCm39) |
H880Q |
unknown |
Het |
| Haus6 |
T |
C |
4: 86,504,578 (GRCm39) |
D471G |
possibly damaging |
Het |
| Hcfc1r1 |
G |
T |
17: 23,893,630 (GRCm39) |
E70* |
probably null |
Het |
| Ighv1-54 |
A |
G |
12: 115,157,483 (GRCm39) |
W55R |
probably damaging |
Het |
| Jam3 |
T |
C |
9: 27,017,712 (GRCm39) |
|
probably null |
Het |
| Klhdc7a |
A |
T |
4: 139,694,155 (GRCm39) |
V264E |
possibly damaging |
Het |
| Lrrc4c |
A |
T |
2: 97,460,558 (GRCm39) |
T395S |
probably benign |
Het |
| Mast2 |
G |
T |
4: 116,210,208 (GRCm39) |
T186K |
probably damaging |
Het |
| Meig1 |
T |
A |
2: 3,410,248 (GRCm39) |
K84M |
probably damaging |
Het |
| Mep1b |
G |
T |
18: 21,228,110 (GRCm39) |
S571I |
probably damaging |
Het |
| Muc2 |
T |
G |
7: 141,281,662 (GRCm39) |
V507G |
probably benign |
Het |
| Nkx2-3 |
C |
A |
19: 43,603,321 (GRCm39) |
T309N |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Or1ad1 |
A |
T |
11: 50,875,845 (GRCm39) |
T106S |
probably benign |
Het |
| Or5b109 |
A |
T |
19: 13,211,901 (GRCm39) |
N96Y |
possibly damaging |
Het |
| Or8b1c |
T |
C |
9: 38,384,243 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla2r1 |
T |
G |
2: 60,277,819 (GRCm39) |
T835P |
possibly damaging |
Het |
| Ppil6 |
C |
T |
10: 41,377,862 (GRCm39) |
T191I |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,519,408 (GRCm39) |
D735G |
possibly damaging |
Het |
| Setx |
T |
A |
2: 29,063,581 (GRCm39) |
N2292K |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,632,094 (GRCm39) |
I307F |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,875,907 (GRCm39) |
W655R |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,097,753 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,104,320 (GRCm39) |
V128A |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,682,146 (GRCm39) |
K2495* |
probably null |
Het |
| Tnni3k |
T |
A |
3: 154,744,161 (GRCm39) |
T64S |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,556,176 (GRCm39) |
V545A |
possibly damaging |
Het |
| Trabd |
A |
G |
15: 88,966,157 (GRCm39) |
D38G |
possibly damaging |
Het |
| Tsbp1 |
C |
T |
17: 34,668,798 (GRCm39) |
T176I |
possibly damaging |
Het |
| Umad1 |
G |
A |
6: 8,401,140 (GRCm39) |
D70N |
unknown |
Het |
| Usp36 |
T |
C |
11: 118,176,791 (GRCm39) |
E9G |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,316,026 (GRCm39) |
S598P |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,511 (GRCm39) |
T625S |
probably benign |
Het |
| Vmn2r72 |
G |
A |
7: 85,398,838 (GRCm39) |
T505I |
probably benign |
Het |
| Vwce |
T |
A |
19: 10,641,647 (GRCm39) |
I791K |
probably benign |
Het |
| Wdr64 |
C |
A |
1: 175,639,668 (GRCm39) |
H1046N |
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,306,031 (GRCm39) |
D232E |
probably damaging |
Het |
| Zfp984 |
A |
T |
4: 147,842,165 (GRCm39) |
F51I |
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 |
|
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 |
|
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'- GACACGGTTAACATCTGCCG -3'
(R):5'- TGCCTTGTGTAATAATAGCCTGAC -3'
Sequencing Primer
(F):5'- AATGCAGCTCAGTGCCTGTC -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation