Incidental Mutation 'R6481:Man2a2'
| ID |
517102 |
| 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 |
044613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R6481 (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 T
at 80013819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 411
(S411T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000206301]
[ENSMUST00000206807]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098346
AA Change: S411T
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: S411T
| 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 damaging
Transcript: ENSMUST00000206301
AA Change: S411T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206973
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (82/82) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931428L18Rik |
T |
C |
1: 31,261,588 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm3 |
T |
C |
3: 59,768,478 (GRCm39) |
Y3H |
probably benign |
Het |
| Abca9 |
G |
A |
11: 110,056,788 (GRCm39) |
Q11* |
probably null |
Het |
| Abcc9 |
A |
T |
6: 142,550,621 (GRCm39) |
M1273K |
probably damaging |
Het |
| Abi2 |
A |
G |
1: 60,478,098 (GRCm39) |
|
probably null |
Het |
| Acsm5 |
A |
G |
7: 119,134,104 (GRCm39) |
E295G |
probably benign |
Het |
| Anapc5 |
T |
C |
5: 122,938,607 (GRCm39) |
D389G |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,625,372 (GRCm39) |
D159E |
probably benign |
Het |
| Arhgap26 |
T |
A |
18: 39,283,110 (GRCm39) |
M349K |
probably damaging |
Het |
| Arhgef39 |
A |
G |
4: 43,498,580 (GRCm39) |
|
probably null |
Het |
| Astn1 |
T |
C |
1: 158,440,032 (GRCm39) |
S867P |
probably benign |
Het |
| Atad3a |
A |
T |
4: 155,838,098 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
A |
T |
9: 47,699,407 (GRCm39) |
D91V |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,790,839 (GRCm39) |
I933T |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,858,530 (GRCm39) |
D1066V |
probably benign |
Het |
| Celsr3 |
C |
G |
9: 108,714,283 (GRCm39) |
N1937K |
possibly damaging |
Het |
| Cic |
A |
C |
7: 24,987,706 (GRCm39) |
T558P |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 84,985,747 (GRCm39) |
M933V |
probably benign |
Het |
| Coch |
T |
C |
12: 51,644,956 (GRCm39) |
F170S |
probably damaging |
Het |
| Col1a2 |
A |
G |
6: 4,538,680 (GRCm39) |
Y1200C |
unknown |
Het |
| Col26a1 |
T |
C |
5: 136,773,032 (GRCm39) |
M383V |
probably benign |
Het |
| Col4a4 |
A |
T |
1: 82,431,499 (GRCm39) |
M1595K |
unknown |
Het |
| Crh |
T |
C |
3: 19,748,501 (GRCm39) |
E47G |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,497,053 (GRCm39) |
|
probably null |
Het |
| Def6 |
G |
A |
17: 28,445,137 (GRCm39) |
R482H |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dpagt1 |
T |
C |
9: 44,242,487 (GRCm39) |
L241P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,610,542 (GRCm39) |
E389G |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,715,174 (GRCm39) |
I53V |
probably benign |
Het |
| Fbxo4 |
A |
G |
15: 3,995,216 (GRCm39) |
L376P |
probably damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,787,008 (GRCm39) |
S352P |
possibly damaging |
Het |
| Fkbpl |
C |
A |
17: 34,864,388 (GRCm39) |
P52Q |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,309,479 (GRCm39) |
R641H |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm12728 |
A |
G |
4: 105,651,546 (GRCm39) |
K52R |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,053 (GRCm39) |
D379G |
probably benign |
Het |
| Gys1 |
A |
T |
7: 45,092,393 (GRCm39) |
Y332F |
possibly damaging |
Het |
| Hoxa7 |
T |
A |
6: 52,193,594 (GRCm39) |
|
probably benign |
Het |
| Ifitm1 |
G |
A |
7: 140,549,519 (GRCm39) |
V101I |
probably benign |
Het |
| Kalrn |
T |
A |
16: 34,181,354 (GRCm39) |
T95S |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,148,412 (GRCm39) |
Y728C |
probably damaging |
Het |
| Lonp2 |
G |
T |
8: 87,361,536 (GRCm39) |
D238Y |
possibly damaging |
Het |
| Ltn1 |
A |
C |
16: 87,175,868 (GRCm39) |
S1757A |
probably damaging |
Het |
| Mrps33 |
C |
A |
6: 39,782,304 (GRCm39) |
|
probably null |
Het |
| Muc16 |
C |
T |
9: 18,461,973 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
A |
G |
7: 141,362,808 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Or10al6 |
T |
G |
17: 38,083,194 (GRCm39) |
F217V |
probably damaging |
Het |
| Or13p8 |
A |
G |
4: 118,583,930 (GRCm39) |
Y162C |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,789 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or4c106 |
A |
T |
2: 88,682,863 (GRCm39) |
T190S |
probably damaging |
Het |
| Or55b10 |
A |
T |
7: 102,143,346 (GRCm39) |
V212D |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,583,812 (GRCm39) |
N175S |
probably damaging |
Het |
| Pag1 |
T |
A |
3: 9,764,396 (GRCm39) |
E252D |
possibly damaging |
Het |
| Plcd3 |
T |
C |
11: 102,968,593 (GRCm39) |
Y366C |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,375 (GRCm39) |
S465R |
probably damaging |
Het |
| Ptpn9 |
G |
T |
9: 56,930,324 (GRCm39) |
V50L |
probably damaging |
Het |
| Rab17 |
T |
G |
1: 90,886,683 (GRCm39) |
S190R |
probably benign |
Het |
| Samd11 |
A |
G |
4: 156,333,535 (GRCm39) |
|
probably null |
Het |
| Slc17a5 |
A |
G |
9: 78,445,553 (GRCm39) |
F434S |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,790,899 (GRCm39) |
I202T |
possibly damaging |
Het |
| Slc8a1 |
G |
T |
17: 81,696,347 (GRCm39) |
Q896K |
probably benign |
Het |
| Slc9a5 |
A |
T |
8: 106,085,025 (GRCm39) |
K509* |
probably null |
Het |
| Slf2 |
A |
C |
19: 44,961,603 (GRCm39) |
M1041L |
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,265,008 (GRCm39) |
|
probably null |
Het |
| Snx9 |
T |
C |
17: 5,972,484 (GRCm39) |
|
probably null |
Het |
| Soat2 |
T |
A |
15: 102,070,490 (GRCm39) |
L431Q |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,929 (GRCm39) |
N293K |
probably benign |
Het |
| Tatdn1 |
T |
C |
15: 58,795,760 (GRCm39) |
T66A |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,640,015 (GRCm39) |
S205T |
probably benign |
Het |
| Tnpo3 |
G |
T |
6: 29,571,100 (GRCm39) |
N431K |
possibly damaging |
Het |
| Trim39 |
T |
C |
17: 36,579,554 (GRCm39) |
T31A |
probably benign |
Het |
| Trmt9b |
T |
C |
8: 36,965,637 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
G |
7: 36,451,764 (GRCm39) |
|
probably null |
Het |
| Ttll11 |
G |
A |
2: 35,792,766 (GRCm39) |
T359M |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,571,843 (GRCm39) |
D26350A |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,159,062 (GRCm39) |
V2472F |
probably damaging |
Het |
| Vsx2 |
C |
T |
12: 84,639,878 (GRCm39) |
P265S |
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,064,885 (GRCm39) |
G1708R |
probably damaging |
Het |
| Wnt11 |
A |
G |
7: 98,502,481 (GRCm39) |
Y351C |
probably damaging |
Het |
| Xpo6 |
A |
C |
7: 125,712,057 (GRCm39) |
N3K |
probably damaging |
Het |
| Zfp445 |
A |
G |
9: 122,686,631 (GRCm39) |
S165P |
probably benign |
Het |
| Zfp953 |
A |
T |
13: 67,496,001 (GRCm39) |
Y13* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,542,908 (GRCm39) |
|
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 |
|
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 |
|
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'- ACAGGTCTGTATGTGTGCCC -3'
(R):5'- GTGTGCGAACCCACATTTG -3'
Sequencing Primer
(F):5'- GTATGTGTGCCCCCACCTG -3'
(R):5'- AGTTCCTCAGTTGAAGCCAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation