Incidental Mutation 'R1184:Man2a2'
| ID |
101919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2a2
|
| Ensembl Gene |
ENSMUSG00000038886 |
| Gene Name |
mannosidase 2, alpha 2 |
| Synonyms |
alpha mannosidase IIx, 1700052O22Rik, MX, 4931438M07Rik |
| MMRRC Submission |
039256-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R1184 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80349097-80371375 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80362965 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 600
(I600N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098346]
[ENSMUST00000206301]
[ENSMUST00000206807]
|
| AlphaFold |
Q8BRK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098346
AA Change: I600N
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: I600N
| 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 |
unknown
Transcript: ENSMUST00000205853
AA Change: H52Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206301
AA Change: H567Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206973
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
100% (83/83) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,160,912 (GRCm38) |
R7G |
probably damaging |
Het |
| 2410089E03Rik |
G |
T |
15: 8,216,487 (GRCm38) |
V1448L |
probably benign |
Het |
| Ahdc1 |
T |
A |
4: 133,065,396 (GRCm38) |
M1316K |
probably benign |
Het |
| Alkal1 |
A |
G |
1: 6,389,488 (GRCm38) |
Y96C |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 123,314,690 (GRCm38) |
Y199C |
probably damaging |
Het |
| Bmp2 |
T |
C |
2: 133,561,468 (GRCm38) |
V313A |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,687,745 (GRCm38) |
|
probably null |
Het |
| Cars |
T |
C |
7: 143,587,139 (GRCm38) |
T141A |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,873,811 (GRCm38) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 135,264,422 (GRCm38) |
|
probably null |
Het |
| Chadl |
T |
C |
15: 81,693,057 (GRCm38) |
S198G |
probably benign |
Het |
| Chd6 |
G |
C |
2: 161,030,802 (GRCm38) |
P286R |
probably damaging |
Het |
| Clec4a4 |
G |
T |
6: 123,012,712 (GRCm38) |
W104L |
probably benign |
Het |
| Coq4 |
G |
A |
2: 29,788,334 (GRCm38) |
|
probably benign |
Het |
| Crtc2 |
T |
A |
3: 90,262,633 (GRCm38) |
Y445* |
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,696,298 (GRCm38) |
I44F |
probably damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,449,841 (GRCm38) |
|
probably null |
Het |
| Dcun1d4 |
T |
C |
5: 73,511,112 (GRCm38) |
|
probably benign |
Het |
| Depdc7 |
A |
T |
2: 104,730,178 (GRCm38) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,959,198 (GRCm38) |
D416G |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,499,190 (GRCm38) |
I743N |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,084,612 (GRCm38) |
|
probably null |
Het |
| Dock3 |
A |
G |
9: 106,969,800 (GRCm38) |
S877P |
probably damaging |
Het |
| Eif3l |
T |
A |
15: 79,075,766 (GRCm38) |
|
probably null |
Het |
| Epha5 |
A |
T |
5: 84,071,275 (GRCm38) |
|
probably null |
Het |
| Ffar3 |
T |
A |
7: 30,855,104 (GRCm38) |
N264Y |
probably damaging |
Het |
| Fyb |
A |
T |
15: 6,638,900 (GRCm38) |
I525F |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,819,153 (GRCm38) |
F1239L |
probably damaging |
Het |
| Gcdh |
T |
C |
8: 84,893,442 (GRCm38) |
|
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,150,420 (GRCm38) |
|
probably benign |
Het |
| Gm21188 |
A |
T |
13: 120,035,131 (GRCm38) |
N67K |
probably benign |
Het |
| Gm8979 |
A |
G |
7: 106,083,952 (GRCm38) |
V32A |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,720,034 (GRCm38) |
Y617H |
probably benign |
Het |
| Hhipl2 |
A |
T |
1: 183,425,134 (GRCm38) |
I131L |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,166,309 (GRCm38) |
|
probably benign |
Het |
| Lrig2 |
T |
A |
3: 104,490,911 (GRCm38) |
I301F |
possibly damaging |
Het |
| Mylk2 |
G |
C |
2: 152,913,741 (GRCm38) |
|
probably null |
Het |
| Myo6 |
C |
T |
9: 80,286,382 (GRCm38) |
Q870* |
probably null |
Het |
| Napg |
T |
G |
18: 62,994,338 (GRCm38) |
H204Q |
probably benign |
Het |
| Neb |
G |
A |
2: 52,263,947 (GRCm38) |
T2384M |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,931,325 (GRCm38) |
|
probably benign |
Het |
| Olfr1216 |
A |
G |
2: 89,013,713 (GRCm38) |
M117T |
probably damaging |
Het |
| Olfr1440 |
T |
C |
19: 12,394,857 (GRCm38) |
V198A |
probably benign |
Het |
| Olfr1462 |
T |
G |
19: 13,191,375 (GRCm38) |
L236R |
probably damaging |
Het |
| Olfr748 |
A |
C |
14: 50,710,614 (GRCm38) |
T95P |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,522,262 (GRCm38) |
T554A |
unknown |
Het |
| Perm1 |
C |
A |
4: 156,217,314 (GRCm38) |
T105K |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,686,358 (GRCm38) |
|
probably null |
Het |
| Pld5 |
A |
G |
1: 176,044,896 (GRCm38) |
I225T |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,831,333 (GRCm38) |
|
probably benign |
Het |
| Ptpn12 |
A |
C |
5: 20,998,356 (GRCm38) |
S475A |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,927,772 (GRCm38) |
V391A |
possibly damaging |
Het |
| Rac2 |
T |
G |
15: 78,565,945 (GRCm38) |
D65A |
possibly damaging |
Het |
| Rgl3 |
A |
G |
9: 21,977,380 (GRCm38) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| Sebox |
A |
T |
11: 78,503,849 (GRCm38) |
T47S |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 80,224,640 (GRCm38) |
T593A |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,116,528 (GRCm38) |
Q187* |
probably null |
Het |
| Serpinb1a |
T |
C |
13: 32,843,216 (GRCm38) |
K248E |
probably benign |
Het |
| Serpinb9e |
A |
C |
13: 33,259,774 (GRCm38) |
E259A |
probably benign |
Het |
| Slc30a3 |
T |
A |
5: 31,090,166 (GRCm38) |
H44L |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,770,933 (GRCm38) |
|
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,236,817 (GRCm38) |
C1801S |
probably damaging |
Het |
| Soat1 |
G |
A |
1: 156,442,374 (GRCm38) |
|
probably null |
Het |
| Spink6 |
T |
C |
18: 44,071,538 (GRCm38) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,184,690 (GRCm38) |
R354H |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,837,972 (GRCm38) |
H861Q |
probably benign |
Het |
| Tgfbrap1 |
G |
A |
1: 43,049,696 (GRCm38) |
T849M |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 123,170,340 (GRCm38) |
N451S |
possibly damaging |
Het |
| Trim36 |
T |
C |
18: 46,196,251 (GRCm38) |
T41A |
probably damaging |
Het |
| Trmt112 |
C |
A |
19: 6,910,353 (GRCm38) |
|
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,645,070 (GRCm38) |
|
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,939,991 (GRCm38) |
P535S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,861,432 (GRCm38) |
|
probably benign |
Het |
| Txndc11 |
C |
T |
16: 11,128,500 (GRCm38) |
R149Q |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,437,198 (GRCm38) |
|
probably benign |
Het |
| Usp30 |
G |
A |
5: 114,103,827 (GRCm38) |
|
probably null |
Het |
| Vmn1r195 |
A |
G |
13: 22,279,011 (GRCm38) |
Y217C |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 80,282,486 (GRCm38) |
D135E |
probably benign |
Het |
| Vrk2 |
A |
G |
11: 26,483,331 (GRCm38) |
|
probably benign |
Het |
| Wdr81 |
G |
T |
11: 75,452,983 (GRCm38) |
P486Q |
probably damaging |
Het |
| Zfp788 |
T |
C |
7: 41,648,326 (GRCm38) |
Y129H |
probably damaging |
Het |
|
| Other mutations in Man2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Man2a2
|
APN |
7 |
80,361,132 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01405:Man2a2
|
APN |
7 |
80,360,934 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01717:Man2a2
|
APN |
7 |
80,367,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01843:Man2a2
|
APN |
7 |
80,362,906 (GRCm38) |
missense |
probably benign |
|
|
IGL02212:Man2a2
|
APN |
7 |
80,362,308 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02383:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02434:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02493:Man2a2
|
APN |
7 |
80,369,615 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02528:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02529:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02530:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02534:Man2a2
|
APN |
7 |
80,359,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02869:Man2a2
|
APN |
7 |
80,363,941 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03084:Man2a2
|
APN |
7 |
80,352,943 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03088:Man2a2
|
APN |
7 |
80,359,334 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL03377:Man2a2
|
APN |
7 |
80,359,052 (GRCm38) |
splice site |
probably null |
|
|
IGL03412:Man2a2
|
APN |
7 |
80,366,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
dugong
|
UTSW |
7 |
80,360,921 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2090_Man2a2_705
|
UTSW |
7 |
80,364,110 (GRCm38) |
unclassified |
probably benign |
|
|
R7828_Man2a2_437
|
UTSW |
7 |
80,366,926 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0112:Man2a2
|
UTSW |
7 |
80,358,276 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0119:Man2a2
|
UTSW |
7 |
80,367,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0646:Man2a2
|
UTSW |
7 |
80,363,197 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1445:Man2a2
|
UTSW |
7 |
80,368,562 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1626:Man2a2
|
UTSW |
7 |
80,367,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1739:Man2a2
|
UTSW |
7 |
80,362,438 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1820:Man2a2
|
UTSW |
7 |
80,358,933 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2090:Man2a2
|
UTSW |
7 |
80,364,110 (GRCm38) |
unclassified |
probably benign |
|
|
R2144:Man2a2
|
UTSW |
7 |
80,363,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2150:Man2a2
|
UTSW |
7 |
80,367,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3882:Man2a2
|
UTSW |
7 |
80,362,315 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4181:Man2a2
|
UTSW |
7 |
80,351,739 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4285:Man2a2
|
UTSW |
7 |
80,368,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4302:Man2a2
|
UTSW |
7 |
80,351,739 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R4440:Man2a2
|
UTSW |
7 |
80,351,715 (GRCm38) |
missense |
probably benign |
0.37 |
|
R4494:Man2a2
|
UTSW |
7 |
80,359,275 (GRCm38) |
splice site |
probably null |
|
|
R4564:Man2a2
|
UTSW |
7 |
80,368,838 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4631:Man2a2
|
UTSW |
7 |
80,362,463 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5328:Man2a2
|
UTSW |
7 |
80,368,756 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5329:Man2a2
|
UTSW |
7 |
80,361,128 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5468:Man2a2
|
UTSW |
7 |
80,352,981 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5774:Man2a2
|
UTSW |
7 |
80,368,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5824:Man2a2
|
UTSW |
7 |
80,353,032 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5915:Man2a2
|
UTSW |
7 |
80,360,921 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5937:Man2a2
|
UTSW |
7 |
80,363,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6101:Man2a2
|
UTSW |
7 |
80,367,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6105:Man2a2
|
UTSW |
7 |
80,367,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6481:Man2a2
|
UTSW |
7 |
80,364,071 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6592:Man2a2
|
UTSW |
7 |
80,353,199 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6869:Man2a2
|
UTSW |
7 |
80,362,945 (GRCm38) |
missense |
probably benign |
0.35 |
|
R6918:Man2a2
|
UTSW |
7 |
80,353,192 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7137:Man2a2
|
UTSW |
7 |
80,359,751 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7236:Man2a2
|
UTSW |
7 |
80,368,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7496:Man2a2
|
UTSW |
7 |
80,352,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7522:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7523:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7524:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7583:Man2a2
|
UTSW |
7 |
80,366,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7681:Man2a2
|
UTSW |
7 |
80,351,749 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7828:Man2a2
|
UTSW |
7 |
80,366,926 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7843:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7845:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7847:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7848:Man2a2
|
UTSW |
7 |
80,368,865 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7984:Man2a2
|
UTSW |
7 |
80,353,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8194:Man2a2
|
UTSW |
7 |
80,361,018 (GRCm38) |
missense |
probably benign |
|
|
R8296:Man2a2
|
UTSW |
7 |
80,368,908 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8376:Man2a2
|
UTSW |
7 |
80,360,923 (GRCm38) |
nonsense |
probably null |
|
|
R8515:Man2a2
|
UTSW |
7 |
80,368,290 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8842:Man2a2
|
UTSW |
7 |
80,353,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9205:Man2a2
|
UTSW |
7 |
80,361,120 (GRCm38) |
missense |
probably benign |
|
|
R9563:Man2a2
|
UTSW |
7 |
80,356,353 (GRCm38) |
missense |
probably benign |
|
|
X0057:Man2a2
|
UTSW |
7 |
80,362,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACGAATGAGGACTACGCTCAAC -3'
(R):5'- TCCCTCGCCATGTCAAAGAACG -3'
Sequencing Primer
(F):5'- TTAAGCATGGAACTAGGACCC -3'
(R):5'- CATGTCAAAGAACGGCTGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation