Incidental Mutation 'R5220:Clec2g'
| ID |
402267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec2g
|
| Ensembl Gene |
ENSMUSG00000000248 |
| Gene Name |
C-type lectin domain family 2, member g |
| Synonyms |
Ocilrp1, 4632413B12Rik |
| MMRRC Submission |
042793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
128911344-128961670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128958269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 100
(S100G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000254]
[ENSMUST00000075789]
[ENSMUST00000142388]
[ENSMUST00000203405]
[ENSMUST00000204259]
|
| AlphaFold |
Q9D676 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000254
AA Change: S162G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000000254
Gene: ENSMUSG00000000248
AA Change: S162G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_C
|
3 |
108 |
2.4e-6 |
PFAM |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
CLECT
|
143 |
254 |
9.36e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075789
AA Change: S100G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000075192
Gene: ENSMUSG00000000248
AA Change: S100G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
CLECT
|
81 |
192 |
9.36e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142388
AA Change: S100G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000115140
Gene: ENSMUSG00000000248
AA Change: S100G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
CLECT
|
81 |
192 |
9.36e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203405
AA Change: S105G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144788
Gene: ENSMUSG00000000248
AA Change: S105G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
CLECT
|
86 |
197 |
4.7e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204259
AA Change: S111G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144879
Gene: ENSMUSG00000000248
AA Change: S111G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
CLECT
|
92 |
203 |
9.36e-25 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,738,045 (GRCm39) |
E250G |
probably damaging |
Het |
| Adgra1 |
A |
G |
7: 139,455,512 (GRCm39) |
N380S |
probably benign |
Het |
| Ap3d1 |
G |
A |
10: 80,563,001 (GRCm39) |
P160L |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,372 (GRCm39) |
V505M |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,543,102 (GRCm39) |
I747F |
probably damaging |
Het |
| Cmya5 |
G |
T |
13: 93,228,804 (GRCm39) |
P2095T |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,373,909 (GRCm39) |
W445R |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,207,012 (GRCm39) |
L159M |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,776 (GRCm39) |
D285G |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,916,222 (GRCm39) |
R3419W |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,197,672 (GRCm39) |
|
probably null |
Het |
| Ghdc |
T |
C |
11: 100,660,543 (GRCm39) |
E110G |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,325,562 (GRCm39) |
T309A |
probably benign |
Het |
| Helb |
A |
C |
10: 119,937,391 (GRCm39) |
F618V |
probably damaging |
Het |
| Hycc1 |
A |
C |
5: 24,170,220 (GRCm39) |
S376R |
possibly damaging |
Het |
| Ifi211 |
A |
G |
1: 173,735,262 (GRCm39) |
F56L |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,950,160 (GRCm39) |
F1988L |
probably damaging |
Het |
| Mapk13 |
G |
A |
17: 28,997,465 (GRCm39) |
S361N |
probably benign |
Het |
| Mapk3 |
A |
G |
7: 126,363,408 (GRCm39) |
I146V |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,338,295 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
T |
6: 121,838,092 (GRCm39) |
V441F |
probably benign |
Het |
| Mymk |
A |
G |
2: 26,952,226 (GRCm39) |
S173P |
probably benign |
Het |
| Nox4 |
A |
G |
7: 87,023,616 (GRCm39) |
T501A |
possibly damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,624 (GRCm39) |
S105Y |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52n2 |
T |
C |
7: 104,542,104 (GRCm39) |
T244A |
possibly damaging |
Het |
| Prkcb |
C |
A |
7: 121,888,678 (GRCm39) |
H37Q |
probably damaging |
Het |
| Rabggtb |
A |
G |
3: 153,615,024 (GRCm39) |
F189L |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,281,471 (GRCm39) |
I75T |
unknown |
Het |
| Slc10a5 |
T |
A |
3: 10,400,148 (GRCm39) |
R171* |
probably null |
Het |
| Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,527,759 (GRCm39) |
W352R |
probably damaging |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,555,460 (GRCm39) |
M190T |
probably damaging |
Het |
| Tmeff2 |
A |
G |
1: 51,018,476 (GRCm39) |
M153V |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,796,696 (GRCm39) |
T279A |
probably damaging |
Het |
| Ubn1 |
G |
T |
16: 4,895,818 (GRCm39) |
A955S |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
| Vrk1 |
T |
A |
12: 106,039,865 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,365 (GRCm39) |
Y233* |
probably null |
Het |
| Zfp109 |
A |
G |
7: 23,928,179 (GRCm39) |
V418A |
probably benign |
Het |
|
| Other mutations in Clec2g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Clec2g
|
APN |
6 |
128,957,144 (GRCm39) |
splice site |
probably null |
|
|
IGL00901:Clec2g
|
APN |
6 |
128,925,655 (GRCm39) |
splice site |
probably benign |
|
|
IGL01367:Clec2g
|
APN |
6 |
128,925,699 (GRCm39) |
missense |
unknown |
|
|
IGL01514:Clec2g
|
APN |
6 |
128,925,736 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02742:Clec2g
|
APN |
6 |
128,957,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0069:Clec2g
|
UTSW |
6 |
128,957,274 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0069:Clec2g
|
UTSW |
6 |
128,925,716 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0368:Clec2g
|
UTSW |
6 |
128,957,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1809:Clec2g
|
UTSW |
6 |
128,957,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1813:Clec2g
|
UTSW |
6 |
128,925,660 (GRCm39) |
missense |
unknown |
|
|
R2866:Clec2g
|
UTSW |
6 |
128,925,719 (GRCm39) |
missense |
probably benign |
|
|
R4080:Clec2g
|
UTSW |
6 |
128,958,287 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4732:Clec2g
|
UTSW |
6 |
128,958,842 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Clec2g
|
UTSW |
6 |
128,958,842 (GRCm39) |
nonsense |
probably null |
|
|
R4906:Clec2g
|
UTSW |
6 |
128,956,411 (GRCm39) |
missense |
probably benign |
|
|
R5014:Clec2g
|
UTSW |
6 |
128,925,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5342:Clec2g
|
UTSW |
6 |
128,925,714 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6155:Clec2g
|
UTSW |
6 |
128,957,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6353:Clec2g
|
UTSW |
6 |
128,959,895 (GRCm39) |
splice site |
probably null |
|
|
R6372:Clec2g
|
UTSW |
6 |
128,925,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7678:Clec2g
|
UTSW |
6 |
128,956,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7821:Clec2g
|
UTSW |
6 |
128,925,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8252:Clec2g
|
UTSW |
6 |
128,958,335 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8909:Clec2g
|
UTSW |
6 |
128,958,195 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9010:Clec2g
|
UTSW |
6 |
128,925,688 (GRCm39) |
missense |
unknown |
|
|
R9781:Clec2g
|
UTSW |
6 |
128,960,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTCACACCTCACAGCTGAG -3'
(R):5'- GCGCACACTCACATTCCCTATG -3'
Sequencing Primer
(F):5'- TCACAGCTGAGCTCAGGAG -3'
(R):5'- CTCCATGTACTTGGGTGGGATCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation