Incidental Mutation 'R7828:Man2a2'
| ID |
602437 |
| 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 |
045882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R7828 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80016674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 380
(I380T)
|
| 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: I380T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: I380T
| 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: ENSMUST00000205853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206301
AA Change: I380T
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.1716 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (64/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,254,904 (GRCm39) |
T869A |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,979,497 (GRCm39) |
I313F |
probably damaging |
Het |
| Arid1b |
C |
A |
17: 5,147,943 (GRCm39) |
P615Q |
probably damaging |
Het |
| Asb16 |
C |
A |
11: 102,168,753 (GRCm39) |
Q410K |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,313,214 (GRCm39) |
E335G |
possibly damaging |
Het |
| AU041133 |
C |
T |
10: 81,987,054 (GRCm39) |
H236Y |
probably damaging |
Het |
| Bhmt |
T |
A |
13: 93,754,156 (GRCm39) |
Y351F |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,501 (GRCm39) |
S610P |
probably damaging |
Het |
| Cab39l |
T |
C |
14: 59,737,159 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
A |
T |
5: 107,120,816 (GRCm39) |
Q146L |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,044,642 (GRCm39) |
H328R |
possibly damaging |
Het |
| Cdsn |
T |
C |
17: 35,865,878 (GRCm39) |
S136P |
unknown |
Het |
| Ces3b |
T |
A |
8: 105,813,228 (GRCm39) |
L203Q |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,676,489 (GRCm39) |
V840A |
probably damaging |
Het |
| Ctse |
T |
C |
1: 131,590,491 (GRCm39) |
L71P |
probably damaging |
Het |
| Ears2 |
G |
T |
7: 121,647,563 (GRCm39) |
S240R |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,687,386 (GRCm39) |
I756V |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,135,127 (GRCm39) |
Y587H |
probably benign |
Het |
| Fcamr |
G |
T |
1: 130,739,443 (GRCm39) |
A248S |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,171 (GRCm39) |
W51* |
probably null |
Het |
| Hfm1 |
A |
T |
5: 107,029,657 (GRCm39) |
|
probably null |
Het |
| Hhip |
T |
C |
8: 80,724,837 (GRCm39) |
I312V |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,295,887 (GRCm39) |
N2658K |
possibly damaging |
Het |
| Iars1 |
T |
A |
13: 49,878,748 (GRCm39) |
M948K |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,758,187 (GRCm39) |
L521S |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,459,892 (GRCm39) |
D2062G |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,876,800 (GRCm39) |
R784S |
probably benign |
Het |
| Maea |
T |
A |
5: 33,517,722 (GRCm39) |
D87E |
probably benign |
Het |
| Mprip |
G |
T |
11: 59,627,915 (GRCm39) |
G253W |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,436 (GRCm39) |
R462H |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,366,979 (GRCm39) |
I342F |
probably damaging |
Het |
| Oosp1 |
C |
A |
19: 11,668,369 (GRCm39) |
V5L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,169 (GRCm39) |
M137K |
probably damaging |
Het |
| Or5b113 |
G |
A |
19: 13,342,510 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c74 |
A |
G |
10: 129,869,756 (GRCm39) |
D87G |
probably damaging |
Het |
| Or7g12 |
T |
C |
9: 18,900,216 (GRCm39) |
S311P |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,752,848 (GRCm39) |
M95T |
probably damaging |
Het |
| Pcdh17 |
C |
G |
14: 84,770,425 (GRCm39) |
R968G |
probably damaging |
Het |
| Pcdhb7 |
T |
G |
18: 37,476,915 (GRCm39) |
S684A |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,947,200 (GRCm39) |
I175R |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,535 (GRCm39) |
D36G |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 33,001,735 (GRCm39) |
|
probably benign |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Sbspon |
T |
G |
1: 15,930,543 (GRCm39) |
K148Q |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,444,078 (GRCm39) |
|
probably null |
Het |
| Sh2d5 |
C |
A |
4: 137,984,108 (GRCm39) |
P85T |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,008,602 (GRCm39) |
V204D |
possibly damaging |
Het |
| Slc2a8 |
G |
A |
2: 32,870,080 (GRCm39) |
R154* |
probably null |
Het |
| Slc36a3 |
C |
T |
11: 55,042,024 (GRCm39) |
G42S |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,296 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,768 (GRCm39) |
|
probably null |
Het |
| Thoc5 |
T |
C |
11: 4,852,306 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,805,381 (GRCm39) |
S153P |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,221,615 (GRCm39) |
L228Q |
probably benign |
Het |
| Upk3b |
G |
A |
5: 136,068,993 (GRCm39) |
G121S |
possibly damaging |
Het |
| Usp1 |
T |
A |
4: 98,820,544 (GRCm39) |
S456R |
probably damaging |
Het |
| Usp28 |
A |
T |
9: 48,915,202 (GRCm39) |
N126Y |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,710,878 (GRCm39) |
V2411M |
possibly damaging |
Het |
| Zfp595 |
C |
T |
13: 67,465,769 (GRCm39) |
E165K |
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 |
|
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'- CCTCTTTGGAGTAAAATGTCAACAC -3'
(R):5'- TGAACCTGCACACCTCTGAC -3'
Sequencing Primer
(F):5'- TGGCAGCAAAGTCCTGTG -3'
(R):5'- TGTGCCCAGCTCCTCAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation