Incidental Mutation 'R5993:Man2b2'
| ID |
480940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Man2b2
|
| Ensembl Gene |
ENSMUSG00000029119 |
| Gene Name |
mannosidase 2, alpha B2 |
| Synonyms |
135 kDa alpha-D-mannosidase |
| MMRRC Submission |
044172-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5993 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36964265-36987997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36978324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 320
(V320A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031002]
|
| AlphaFold |
O54782 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031002
AA Change: V320A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: V320A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_38
|
28 |
351 |
4e-100 |
PFAM |
|
Alpha-mann_mid
|
356 |
439 |
3.3e-20 |
SMART |
|
Pfam:Glyco_hydro_38C
|
487 |
1013 |
2e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124711
|
| SMART Domains |
Protein: ENSMUSP00000115495
Gene: ENSMUSG00000029119
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_38C
|
67 |
469 |
2.5e-80 |
PFAM |
|
low complexity region
|
483 |
493 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,236,604 (GRCm39) |
N805K |
probably damaging |
Het |
| Add1 |
A |
C |
5: 34,758,877 (GRCm39) |
S64R |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,111,328 (GRCm39) |
F613L |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,487,531 (GRCm39) |
|
probably benign |
Het |
| Anks3 |
C |
T |
16: 4,776,001 (GRCm39) |
G67D |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,407,269 (GRCm39) |
T2052I |
probably benign |
Het |
| Atp8b4 |
C |
T |
2: 126,245,154 (GRCm39) |
V332I |
probably benign |
Het |
| Bin2 |
CGGAGCTGA |
C |
15: 100,542,901 (GRCm39) |
|
probably null |
Het |
| Bpifb3 |
T |
A |
2: 153,771,234 (GRCm39) |
M382K |
probably benign |
Het |
| Ccdc149 |
C |
T |
5: 52,560,117 (GRCm39) |
R246Q |
probably damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,785,550 (GRCm39) |
K462E |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,392,125 (GRCm39) |
T9A |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,000,799 (GRCm39) |
Y362H |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,412 (GRCm39) |
I998T |
probably damaging |
Het |
| Dclre1a |
A |
C |
19: 56,531,169 (GRCm39) |
Y726D |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,299,372 (GRCm39) |
V1578A |
probably benign |
Het |
| Dppa4 |
C |
T |
16: 48,109,709 (GRCm39) |
R110* |
probably null |
Het |
| Drc7 |
T |
A |
8: 95,800,820 (GRCm39) |
V614E |
probably benign |
Het |
| Garin2 |
C |
A |
12: 78,762,210 (GRCm39) |
N12K |
probably damaging |
Het |
| Gcc1 |
G |
A |
6: 28,424,851 (GRCm39) |
|
probably null |
Het |
| Greb1l |
G |
A |
18: 10,544,455 (GRCm39) |
D1350N |
probably benign |
Het |
| Kcnc1 |
G |
A |
7: 46,076,956 (GRCm39) |
V253M |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,884 (GRCm39) |
I323F |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,454,161 (GRCm39) |
F112Y |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,310,138 (GRCm39) |
T800A |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,330,880 (GRCm39) |
A1197E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,220 (GRCm39) |
H39Q |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,120,982 (GRCm39) |
T588I |
probably benign |
Het |
| Oxld1 |
A |
G |
11: 120,347,835 (GRCm39) |
S121P |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,855,273 (GRCm39) |
K444E |
possibly damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,436 (GRCm39) |
D3V |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,876,296 (GRCm39) |
T1052A |
probably benign |
Het |
| Rhot2 |
T |
A |
17: 26,060,085 (GRCm39) |
T299S |
probably benign |
Het |
| Rhov |
A |
G |
2: 119,100,533 (GRCm39) |
F235L |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,841,863 (GRCm39) |
R158S |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,875,490 (GRCm39) |
E431D |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,274,307 (GRCm39) |
E186G |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,466,572 (GRCm39) |
L158H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,280,946 (GRCm39) |
T40A |
probably benign |
Het |
| Shroom3 |
A |
T |
5: 93,088,047 (GRCm39) |
S185C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,666,276 (GRCm39) |
V1183D |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,739,732 (GRCm39) |
V3405A |
probably benign |
Het |
| Supt16 |
C |
A |
14: 52,415,791 (GRCm39) |
R357L |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,069,253 (GRCm39) |
|
probably null |
Het |
| Topaz1 |
T |
C |
9: 122,578,104 (GRCm39) |
L338S |
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,374,992 (GRCm39) |
Y139* |
probably null |
Het |
| Ttn |
T |
G |
2: 76,626,251 (GRCm39) |
D6641A |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,743,163 (GRCm39) |
D886G |
probably benign |
Het |
| Zc3h7a |
T |
A |
16: 10,968,526 (GRCm39) |
K484N |
probably damaging |
Het |
|
| Other mutations in Man2b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Man2b2
|
APN |
5 |
36,973,487 (GRCm39) |
nonsense |
probably null |
|
|
IGL01098:Man2b2
|
APN |
5 |
36,972,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01367:Man2b2
|
APN |
5 |
36,971,681 (GRCm39) |
nonsense |
probably null |
|
|
IGL01781:Man2b2
|
APN |
5 |
36,971,089 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01809:Man2b2
|
APN |
5 |
36,971,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02824:Man2b2
|
APN |
5 |
36,979,195 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03323:Man2b2
|
APN |
5 |
36,975,858 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03333:Man2b2
|
APN |
5 |
36,973,483 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0505:Man2b2
|
UTSW |
5 |
36,973,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0715:Man2b2
|
UTSW |
5 |
36,983,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1435:Man2b2
|
UTSW |
5 |
36,970,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1536:Man2b2
|
UTSW |
5 |
36,978,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1944:Man2b2
|
UTSW |
5 |
36,973,524 (GRCm39) |
missense |
probably benign |
|
|
R2079:Man2b2
|
UTSW |
5 |
36,971,716 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2475:Man2b2
|
UTSW |
5 |
36,965,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2924:Man2b2
|
UTSW |
5 |
36,981,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2925:Man2b2
|
UTSW |
5 |
36,981,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2938:Man2b2
|
UTSW |
5 |
36,978,330 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3777:Man2b2
|
UTSW |
5 |
36,972,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3778:Man2b2
|
UTSW |
5 |
36,972,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3982:Man2b2
|
UTSW |
5 |
36,971,164 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4618:Man2b2
|
UTSW |
5 |
36,974,983 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4822:Man2b2
|
UTSW |
5 |
36,972,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Man2b2
|
UTSW |
5 |
36,967,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Man2b2
|
UTSW |
5 |
36,971,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5468:Man2b2
|
UTSW |
5 |
36,964,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6053:Man2b2
|
UTSW |
5 |
36,970,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6083:Man2b2
|
UTSW |
5 |
36,966,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Man2b2
|
UTSW |
5 |
36,978,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Man2b2
|
UTSW |
5 |
36,967,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7000:Man2b2
|
UTSW |
5 |
36,979,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Man2b2
|
UTSW |
5 |
36,972,829 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7376:Man2b2
|
UTSW |
5 |
36,970,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Man2b2
|
UTSW |
5 |
36,967,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Man2b2
|
UTSW |
5 |
36,967,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8059:Man2b2
|
UTSW |
5 |
36,973,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8471:Man2b2
|
UTSW |
5 |
36,979,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Man2b2
|
UTSW |
5 |
36,973,462 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9341:Man2b2
|
UTSW |
5 |
36,975,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Man2b2
|
UTSW |
5 |
36,975,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9421:Man2b2
|
UTSW |
5 |
36,978,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0022:Man2b2
|
UTSW |
5 |
36,971,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Man2b2
|
UTSW |
5 |
36,972,700 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1177:Man2b2
|
UTSW |
5 |
36,971,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTGTTTAGGTGGGAAGAGC -3'
(R):5'- CAGTGATAAGCCCTCTTGCCTG -3'
Sequencing Primer
(F):5'- GGTACTCCTCACCCCTGAAC -3'
(R):5'- CCCTCTTGCCTGGGAGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation