Incidental Mutation 'R5328:Man2a2'
ID |
422142 |
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 |
042843-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R5328 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
79998845-80021123 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80018504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 118
(F118L)
|
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: F118L
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000095949 Gene: ENSMUSG00000038886 AA Change: F118L
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 |
noncoding transcript
Transcript: ENSMUST00000205535
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206212
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206301
AA Change: F118L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,887,694 (GRCm39) |
V860E |
possibly damaging |
Het |
Abcc6 |
T |
C |
7: 45,641,735 (GRCm39) |
D881G |
probably benign |
Het |
Abcc9 |
A |
G |
6: 142,627,785 (GRCm39) |
V415A |
probably benign |
Het |
Adgrb3 |
A |
C |
1: 25,133,356 (GRCm39) |
N1003K |
possibly damaging |
Het |
Adora3 |
C |
T |
3: 105,814,619 (GRCm39) |
T123I |
probably benign |
Het |
Amotl2 |
A |
C |
9: 102,600,967 (GRCm39) |
T345P |
probably benign |
Het |
Arap3 |
C |
T |
18: 38,124,740 (GRCm39) |
E247K |
possibly damaging |
Het |
Atp8b1 |
A |
T |
18: 64,664,462 (GRCm39) |
D1235E |
probably benign |
Het |
Axl |
A |
T |
7: 25,472,836 (GRCm39) |
V400E |
probably damaging |
Het |
Brd8 |
T |
A |
18: 34,741,034 (GRCm39) |
N431Y |
probably benign |
Het |
Cadps |
A |
T |
14: 12,457,790 (GRCm38) |
N1025K |
probably benign |
Het |
Cblc |
A |
T |
7: 19,526,505 (GRCm39) |
S195T |
possibly damaging |
Het |
Chd2 |
C |
T |
7: 73,113,429 (GRCm39) |
A1184T |
possibly damaging |
Het |
Chst10 |
G |
A |
1: 38,935,043 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,527,342 (GRCm39) |
K2663E |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,140 (GRCm39) |
I292L |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,485,251 (GRCm39) |
V294A |
probably damaging |
Het |
Cyp2d11 |
G |
A |
15: 82,275,972 (GRCm39) |
P203L |
probably benign |
Het |
Dnaaf10 |
C |
A |
11: 17,172,220 (GRCm39) |
P103Q |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
Eif3l |
A |
T |
15: 78,977,561 (GRCm39) |
K534* |
probably null |
Het |
Enpep |
T |
C |
3: 129,074,159 (GRCm39) |
E796G |
probably benign |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Fam117a |
T |
A |
11: 95,254,996 (GRCm39) |
|
probably null |
Het |
Fan1 |
A |
T |
7: 64,004,217 (GRCm39) |
Y750N |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,011,017 (GRCm39) |
I2039N |
probably damaging |
Het |
Gabrr2 |
G |
T |
4: 33,082,565 (GRCm39) |
D106Y |
probably damaging |
Het |
Gak |
A |
C |
5: 108,764,867 (GRCm39) |
C145G |
possibly damaging |
Het |
Galnt14 |
A |
T |
17: 73,812,454 (GRCm39) |
N406K |
possibly damaging |
Het |
Gm10439 |
T |
G |
X: 148,419,159 (GRCm39) |
*434E |
probably null |
Het |
Gm10837 |
G |
T |
14: 122,728,190 (GRCm39) |
R22L |
unknown |
Het |
Gm19965 |
T |
A |
1: 116,749,148 (GRCm39) |
H276Q |
possibly damaging |
Het |
Gm43517 |
T |
C |
12: 49,437,939 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
T |
18: 10,553,720 (GRCm39) |
I1574F |
probably damaging |
Het |
Gzme |
G |
A |
14: 56,355,224 (GRCm39) |
H236Y |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,133,791 (GRCm39) |
T266I |
possibly damaging |
Het |
Hk3 |
T |
C |
13: 55,161,306 (GRCm39) |
I185V |
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,066,527 (GRCm39) |
E302G |
probably benign |
Het |
Itgal |
T |
C |
7: 126,910,847 (GRCm39) |
|
probably null |
Het |
Itk |
A |
G |
11: 46,222,703 (GRCm39) |
S583P |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,498,268 (GRCm39) |
I1448F |
probably damaging |
Het |
Macf1 |
GCCCCC |
GCCCCCC |
4: 123,244,784 (GRCm39) |
|
probably null |
Het |
Mfsd5 |
T |
A |
15: 102,189,447 (GRCm39) |
V273E |
probably damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,507,200 (GRCm39) |
L300P |
probably damaging |
Het |
Nt5c1a |
T |
G |
4: 123,102,786 (GRCm39) |
L122R |
possibly damaging |
Het |
Nt5c3b |
A |
G |
11: 100,331,067 (GRCm39) |
F42S |
probably damaging |
Het |
Or2av9 |
C |
A |
11: 58,381,255 (GRCm39) |
A109S |
possibly damaging |
Het |
Or51g2 |
T |
A |
7: 102,623,175 (GRCm39) |
N8I |
possibly damaging |
Het |
Pabpc1 |
A |
T |
15: 36,603,121 (GRCm39) |
D204E |
probably benign |
Het |
Panx2 |
A |
G |
15: 88,952,298 (GRCm39) |
N255S |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,247,553 (GRCm39) |
L993P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,879,418 (GRCm39) |
C1160S |
probably damaging |
Het |
Plekhh3 |
T |
A |
11: 101,058,484 (GRCm39) |
|
probably benign |
Het |
Plod3 |
T |
A |
5: 137,018,537 (GRCm39) |
N258K |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,987,365 (GRCm39) |
Q710R |
probably benign |
Het |
Rnf216 |
G |
T |
5: 143,078,754 (GRCm39) |
T65K |
possibly damaging |
Het |
Samd9l |
T |
C |
6: 3,376,739 (GRCm39) |
E174G |
probably damaging |
Het |
Septin12 |
T |
A |
16: 4,811,857 (GRCm39) |
M63L |
possibly damaging |
Het |
Sh3bgrl2 |
T |
A |
9: 83,459,509 (GRCm39) |
D22E |
probably benign |
Het |
Sirpd |
T |
C |
3: 15,397,234 (GRCm39) |
M17V |
unknown |
Het |
Skil |
A |
G |
3: 31,171,718 (GRCm39) |
K488R |
probably benign |
Het |
Slamf6 |
T |
A |
1: 171,765,662 (GRCm39) |
I262K |
probably benign |
Het |
Slc27a3 |
T |
C |
3: 90,294,139 (GRCm39) |
D470G |
probably damaging |
Het |
Sorbs3 |
A |
T |
14: 70,418,623 (GRCm39) |
V680E |
probably damaging |
Het |
Sox9 |
C |
T |
11: 112,673,484 (GRCm39) |
T25I |
probably benign |
Het |
Srsf1 |
G |
T |
11: 87,940,819 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
C |
2: 120,529,711 (GRCm39) |
E1989D |
probably damaging |
Het |
Thumpd2 |
T |
A |
17: 81,351,591 (GRCm39) |
I277F |
possibly damaging |
Het |
Tinag |
C |
A |
9: 76,912,913 (GRCm39) |
G299* |
probably null |
Het |
Tk2 |
A |
T |
8: 104,955,931 (GRCm39) |
|
probably null |
Het |
Tmem44 |
A |
G |
16: 30,359,709 (GRCm39) |
S210P |
possibly damaging |
Het |
Traf3ip1 |
C |
A |
1: 91,447,791 (GRCm39) |
P423T |
probably damaging |
Het |
Trmt12 |
A |
G |
15: 58,744,704 (GRCm39) |
D34G |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,180,178 (GRCm39) |
Y72H |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,708,755 (GRCm39) |
|
probably benign |
Het |
Ttyh2 |
T |
A |
11: 114,600,894 (GRCm39) |
I381N |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,777,814 (GRCm39) |
N734Y |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,414,616 (GRCm39) |
I2853T |
probably benign |
Het |
Usp34 |
G |
A |
11: 23,438,659 (GRCm39) |
G3407D |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,570,238 (GRCm39) |
Y252C |
probably damaging |
Het |
Wdr19 |
G |
A |
5: 65,401,522 (GRCm39) |
C979Y |
probably damaging |
Het |
Yeats2 |
A |
T |
16: 19,989,955 (GRCm39) |
H277L |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,319,267 (GRCm39) |
Y253C |
possibly damaging |
Het |
Zfat |
C |
A |
15: 68,051,677 (GRCm39) |
G706C |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,350,898 (GRCm39) |
N1584K |
possibly 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 |
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'- CAAACACTTGCAGGTCTTCAGTG -3'
(R):5'- CTGCTGGAGGAAAACCATGAC -3'
Sequencing Primer
(F):5'- TAGGAGATGTCAAAGCCTTGCCTC -3'
(R):5'- TGACATCATAAGCCGTATCAAGG -3'
|
Posted On |
2016-08-04 |