Incidental Mutation 'R9174:Mgl2'
| ID |
696587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgl2
|
| Ensembl Gene |
ENSMUSG00000040950 |
| Gene Name |
macrophage galactose N-acetyl-galactosamine specific lectin 2 |
| Synonyms |
CD301b |
| MMRRC Submission |
068977-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70021155-70028376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70026606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 110
(F110L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041550]
[ENSMUST00000108584]
[ENSMUST00000165951]
|
| AlphaFold |
A9XX86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041550
AA Change: F109L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048568
Gene: ENSMUSG00000040950
AA Change: F109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
6 |
179 |
4.6e-56 |
PFAM |
|
CLECT
|
189 |
313 |
2.37e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108584
AA Change: F103L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104225
Gene: ENSMUSG00000040950
AA Change: F103L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
8 |
173 |
8.6e-56 |
PFAM |
|
CLECT
|
183 |
355 |
5.76e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165951
AA Change: F110L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131344
Gene: ENSMUSG00000040950
AA Change: F110L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (33/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap1 |
A |
G |
11: 88,725,991 (GRCm39) |
Y737H |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,855,606 (GRCm39) |
V610E |
probably damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,433 (GRCm39) |
T158I |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,220,032 (GRCm39) |
K90R |
probably benign |
Het |
| Cfap70 |
C |
A |
14: 20,493,706 (GRCm39) |
G132W |
probably damaging |
Het |
| Cpne9 |
T |
A |
6: 113,279,032 (GRCm39) |
D475E |
probably damaging |
Het |
| Dapp1 |
T |
C |
3: 137,638,916 (GRCm39) |
D270G |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,076 (GRCm39) |
Y108* |
probably null |
Het |
| Etv4 |
A |
G |
11: 101,662,705 (GRCm39) |
|
probably null |
Het |
| Fes |
C |
A |
7: 80,030,631 (GRCm39) |
V555F |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,642,797 (GRCm39) |
I823L |
possibly damaging |
Het |
| H2-M9 |
A |
C |
17: 36,953,181 (GRCm39) |
L42R |
probably damaging |
Het |
| Ifitm2 |
A |
T |
7: 140,535,013 (GRCm39) |
I107N |
probably damaging |
Het |
| Impg1 |
T |
C |
9: 80,252,750 (GRCm39) |
T477A |
probably damaging |
Het |
| Inca1 |
G |
A |
11: 70,580,732 (GRCm39) |
P78S |
possibly damaging |
Het |
| Khk |
A |
G |
5: 31,085,819 (GRCm39) |
E126G |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Mars1 |
A |
T |
10: 127,135,237 (GRCm39) |
I618N |
probably damaging |
Het |
| Mon1b |
A |
G |
8: 114,365,689 (GRCm39) |
D339G |
probably damaging |
Het |
| Pfdn2 |
G |
C |
1: 171,184,164 (GRCm39) |
E48Q |
probably damaging |
Het |
| Pilra |
A |
G |
5: 137,833,898 (GRCm39) |
I56T |
probably damaging |
Het |
| Ptpru |
A |
T |
4: 131,535,746 (GRCm39) |
N410K |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,868,039 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,295,893 (GRCm39) |
E1052G |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,791,269 (GRCm39) |
C495R |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,284,289 (GRCm39) |
H339Q |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,767,987 (GRCm39) |
D1411G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,460,416 (GRCm39) |
I2559N |
probably damaging |
Het |
| Vipas39 |
A |
T |
12: 87,305,885 (GRCm39) |
S103T |
possibly damaging |
Het |
| Vrk1 |
G |
A |
12: 106,002,811 (GRCm39) |
R3H |
probably benign |
Het |
| Wdr46 |
G |
T |
17: 34,167,668 (GRCm39) |
R493L |
possibly damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,254,125 (GRCm39) |
D123G |
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 |
|
R5467:Mgl2
|
UTSW |
11 |
70,025,878 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATTCCCAGTTAAGGAGGG -3'
(R):5'- CCTGTTTTGAGAGCCTGCTC -3'
Sequencing Primer
(F):5'- AGGGACCTAGGCACCCTAAG -3'
(R):5'- AGTGTGCTCTCCAGAGAAGTCAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation