Incidental Mutation 'IGL02742:Clec2g'
| ID |
305935 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec2g
|
| Ensembl Gene |
ENSMUSG00000000248 |
| Gene Name |
C-type lectin domain family 2, member g |
| Synonyms |
Ocilrp1, 4632413B12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL02742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
128911344-128961670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128957224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 61
(I61V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000254]
[ENSMUST00000075789]
[ENSMUST00000142388]
[ENSMUST00000203405]
[ENSMUST00000204259]
|
| AlphaFold |
Q9D676 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000254
AA Change: I112V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000254
Gene: ENSMUSG00000000248
AA Change: I112V
| 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 |
possibly damaging
Transcript: ENSMUST00000075789
AA Change: I50V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075192
Gene: ENSMUSG00000000248
AA Change: I50V
| 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 |
possibly damaging
Transcript: ENSMUST00000142388
AA Change: I50V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115140
Gene: ENSMUSG00000000248
AA Change: I50V
| 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 |
possibly damaging
Transcript: ENSMUST00000203405
AA Change: I55V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144788
Gene: ENSMUSG00000000248
AA Change: I55V
| 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 |
possibly damaging
Transcript: ENSMUST00000204259
AA Change: I61V
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144879
Gene: ENSMUSG00000000248
AA Change: I61V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
| Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
| Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
| Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
| Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
| Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
| Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
| Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
| Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
| St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
| Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
| Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
| Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
| Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
possibly damaging |
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 |
|
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 |
|
R5220:Clec2g
|
UTSW |
6 |
128,958,269 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation