Incidental Mutation 'IGL01970:Klrg2'
| ID |
182525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klrg2
|
| Ensembl Gene |
ENSMUSG00000071537 |
| Gene Name |
killer cell lectin-like receptor subfamily G, member 2 |
| Synonyms |
2310020F24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL01970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
38602628-38614177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38613383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 207
(K207E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096030]
[ENSMUST00000201345]
[ENSMUST00000202245]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096030
AA Change: K207E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093732
Gene: ENSMUSG00000071537
AA Change: K207E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
CLECT
|
271 |
383 |
4.55e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201345
AA Change: K20E
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143835
Gene: ENSMUSG00000071537
AA Change: K20E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
CLECT
|
84 |
196 |
2.3e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202245
AA Change: K207E
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144581
Gene: ENSMUSG00000071537
AA Change: K207E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdk9 |
T |
C |
2: 32,598,063 (GRCm39) |
H280R |
possibly damaging |
Het |
| Cenpt |
C |
T |
8: 106,571,748 (GRCm39) |
R461H |
probably damaging |
Het |
| Cpa4 |
A |
G |
6: 30,579,645 (GRCm39) |
T151A |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,232 (GRCm39) |
I165T |
possibly damaging |
Het |
| Gm17305 |
A |
T |
11: 69,255,646 (GRCm39) |
|
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,528,465 (GRCm39) |
S391T |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,755,299 (GRCm39) |
I487V |
possibly damaging |
Het |
| Krt27 |
A |
G |
11: 99,239,547 (GRCm39) |
L311P |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,151,326 (GRCm39) |
Y450C |
probably damaging |
Het |
| Oacyl |
A |
T |
18: 65,882,785 (GRCm39) |
I627F |
possibly damaging |
Het |
| Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
| Rft1 |
C |
T |
14: 30,412,492 (GRCm39) |
L518F |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,071,437 (GRCm39) |
Q1209L |
possibly damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,844,313 (GRCm39) |
S57G |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,686,792 (GRCm39) |
M968T |
probably benign |
Het |
| Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
| Sorbs2 |
G |
A |
8: 46,198,840 (GRCm39) |
V73I |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,081,595 (GRCm39) |
D347E |
probably damaging |
Het |
| Tas2r116 |
A |
C |
6: 132,832,632 (GRCm39) |
T78P |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,997,135 (GRCm39) |
E224G |
probably damaging |
Het |
| Trnau1ap |
T |
C |
4: 132,041,298 (GRCm39) |
|
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,575,813 (GRCm39) |
M228K |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,773,300 (GRCm39) |
I109T |
probably benign |
Het |
| Wee1 |
C |
A |
7: 109,738,457 (GRCm39) |
H523Q |
probably damaging |
Het |
| Xpr1 |
T |
C |
1: 155,165,980 (GRCm39) |
N524S |
probably benign |
Het |
|
| Other mutations in Klrg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1707:Klrg2
|
UTSW |
6 |
38,613,729 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2068:Klrg2
|
UTSW |
6 |
38,613,928 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4849:Klrg2
|
UTSW |
6 |
38,607,214 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4859:Klrg2
|
UTSW |
6 |
38,604,540 (GRCm39) |
makesense |
probably null |
|
|
R7529:Klrg2
|
UTSW |
6 |
38,607,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Klrg2
|
UTSW |
6 |
38,604,562 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7864:Klrg2
|
UTSW |
6 |
38,605,024 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7887:Klrg2
|
UTSW |
6 |
38,613,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8431:Klrg2
|
UTSW |
6 |
38,605,122 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8696:Klrg2
|
UTSW |
6 |
38,613,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8812:Klrg2
|
UTSW |
6 |
38,613,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9277:Klrg2
|
UTSW |
6 |
38,613,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9761:Klrg2
|
UTSW |
6 |
38,607,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Klrg2
|
UTSW |
6 |
38,613,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation