Incidental Mutation 'R5467:Mgl2'
| ID |
501075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgl2
|
| Ensembl Gene |
ENSMUSG00000040950 |
| Gene Name |
macrophage galactose N-acetyl-galactosamine specific lectin 2 |
| Synonyms |
CD301b |
| MMRRC Submission |
043028-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5467 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70021155-70028376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70025878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 31
(I31N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041550]
[ENSMUST00000108584]
[ENSMUST00000165951]
|
| AlphaFold |
A9XX86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041550
AA Change: I37N
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: I37N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
6 |
179 |
4.6e-56 |
PFAM |
|
CLECT
|
189 |
313 |
2.37e-35 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108584
AA Change: I31N
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: I31N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
8 |
173 |
8.6e-56 |
PFAM |
|
CLECT
|
183 |
355 |
5.76e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147502
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165951
AA Change: V38D
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: V38D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
21 |
133 |
2.1e-35 |
PFAM |
|
Pfam:Lectin_N
|
129 |
180 |
5.4e-19 |
PFAM |
|
CLECT
|
190 |
362 |
5.76e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice that are either homozygous or heterozygous for a reporter allele are viable and fertile. In heterozygotes, transient depletion of CD301b+ dermal dendritic cells by injection of diptheria toxin results in impaired T helper 2 (Th2) cell mediated immunity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,222,991 (GRCm39) |
M525T |
possibly damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,751 (GRCm39) |
V80A |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
| Bltp3b |
G |
T |
10: 89,640,961 (GRCm39) |
G711W |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,705,836 (GRCm39) |
D773V |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,102,093 (GRCm39) |
H330Q |
possibly damaging |
Het |
| Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
C |
A |
7: 130,642,723 (GRCm39) |
S180R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Elovl7 |
T |
C |
13: 108,416,156 (GRCm39) |
V182A |
probably benign |
Het |
| Eml3 |
G |
A |
19: 8,914,946 (GRCm39) |
W601* |
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,927,912 (GRCm39) |
Y3775F |
probably benign |
Het |
| Gns |
T |
C |
10: 121,227,351 (GRCm39) |
W454R |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,442,527 (GRCm39) |
F812S |
possibly damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,531,765 (GRCm39) |
L40* |
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
G |
T |
11: 103,494,091 (GRCm39) |
C655* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,216,448 (GRCm39) |
T2677A |
possibly damaging |
Het |
| Ndst1 |
A |
G |
18: 60,825,093 (GRCm39) |
S742P |
probably benign |
Het |
| Or10g6 |
G |
T |
9: 39,933,733 (GRCm39) |
V15L |
probably benign |
Het |
| Or1o11 |
G |
T |
17: 37,756,973 (GRCm39) |
C187F |
probably damaging |
Het |
| Or4d6 |
A |
C |
19: 12,086,023 (GRCm39) |
S70A |
probably benign |
Het |
| Or5b112 |
A |
T |
19: 13,319,521 (GRCm39) |
Y133F |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,906,200 (GRCm39) |
Y177C |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,188 (GRCm39) |
D552G |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,291,654 (GRCm39) |
V1291E |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,009,729 (GRCm39) |
E636G |
probably damaging |
Het |
| Prl5a1 |
A |
T |
13: 28,333,994 (GRCm39) |
I166L |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,449,060 (GRCm39) |
D690G |
possibly damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,759 (GRCm39) |
H840R |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,050,923 (GRCm39) |
|
probably benign |
Het |
| Slc31a2 |
A |
G |
4: 62,210,924 (GRCm39) |
H19R |
probably damaging |
Het |
| Styxl2 |
C |
A |
1: 165,939,599 (GRCm39) |
|
probably null |
Het |
| Tnks2 |
A |
T |
19: 36,859,176 (GRCm39) |
R314W |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,275,864 (GRCm39) |
D189G |
probably damaging |
Het |
| Trav13n-4 |
T |
A |
14: 53,601,303 (GRCm39) |
V24E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,043,633 (GRCm39) |
Y124H |
unknown |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Mgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00677:Mgl2
|
APN |
11 |
70,027,932 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL00757:Mgl2
|
APN |
11 |
70,025,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00838:Mgl2
|
APN |
11 |
70,025,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01118:Mgl2
|
APN |
11 |
70,025,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01613:Mgl2
|
APN |
11 |
70,024,984 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02094:Mgl2
|
APN |
11 |
70,027,923 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03000:Mgl2
|
APN |
11 |
70,025,026 (GRCm39) |
nonsense |
probably null |
|
|
R1893:Mgl2
|
UTSW |
11 |
70,024,993 (GRCm39) |
splice site |
probably null |
|
|
R3767:Mgl2
|
UTSW |
11 |
70,026,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Mgl2
|
UTSW |
11 |
70,026,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Mgl2
|
UTSW |
11 |
70,026,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Mgl2
|
UTSW |
11 |
70,027,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6018:Mgl2
|
UTSW |
11 |
70,027,937 (GRCm39) |
makesense |
probably null |
|
|
R7189:Mgl2
|
UTSW |
11 |
70,027,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Mgl2
|
UTSW |
11 |
70,026,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Mgl2
|
UTSW |
11 |
70,027,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8330:Mgl2
|
UTSW |
11 |
70,026,785 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9174:Mgl2
|
UTSW |
11 |
70,026,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAACAATTACCTCTGGAAAGG -3'
(R):5'- CAATCACTGCCCAGGTTCTC -3'
Sequencing Primer
(F):5'- ACAGTTCCTCATGTTATGGTGAC -3'
(R):5'- AATCACTGCCCAGGTTCTCTTCTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation