Incidental Mutation 'R0903:Klri2'
| ID |
83881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klri2
|
| Ensembl Gene |
ENSMUSG00000043932 |
| Gene Name |
killer cell lectin-like receptor family I member 2 |
| Synonyms |
A530090P03Rik |
| MMRRC Submission |
039061-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0903 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129706004-129717447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129710739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 127
(S127P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050385]
|
| AlphaFold |
Q5DT36 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050385
AA Change: S127P
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052805
Gene: ENSMUSG00000043932
AA Change: S127P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
CLECT
|
132 |
245 |
7.01e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
A |
G |
4: 135,965,687 (GRCm39) |
N399S |
probably benign |
Het |
| Camk4 |
T |
A |
18: 33,315,383 (GRCm39) |
F303L |
probably benign |
Het |
| Cntn2 |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
1: 132,461,422 (GRCm39) |
|
probably benign |
Het |
| Hmg20b |
C |
T |
10: 81,184,329 (GRCm39) |
|
probably null |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Kif13a |
T |
C |
13: 47,082,735 (GRCm39) |
T35A |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,445,994 (GRCm39) |
M33V |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,513,293 (GRCm39) |
H821R |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,701 (GRCm39) |
I4L |
probably benign |
Het |
| Or8c11 |
C |
G |
9: 38,290,097 (GRCm39) |
L301V |
probably benign |
Het |
| Scrib |
A |
T |
15: 75,938,704 (GRCm39) |
W203R |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,432,242 (GRCm39) |
|
probably null |
Het |
| Ssx2ip |
G |
T |
3: 146,136,732 (GRCm39) |
V327L |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,570 (GRCm39) |
F354Y |
probably benign |
Het |
|
| Other mutations in Klri2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Klri2
|
APN |
6 |
129,710,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Klri2
|
UTSW |
6 |
129,709,171 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0371:Klri2
|
UTSW |
6 |
129,709,106 (GRCm39) |
makesense |
probably null |
|
|
R0396:Klri2
|
UTSW |
6 |
129,717,251 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0671:Klri2
|
UTSW |
6 |
129,717,171 (GRCm39) |
missense |
probably benign |
|
|
R1353:Klri2
|
UTSW |
6 |
129,716,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Klri2
|
UTSW |
6 |
129,709,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1642:Klri2
|
UTSW |
6 |
129,715,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2221:Klri2
|
UTSW |
6 |
129,717,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6044:Klri2
|
UTSW |
6 |
129,717,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6236:Klri2
|
UTSW |
6 |
129,715,858 (GRCm39) |
missense |
probably benign |
|
|
R6582:Klri2
|
UTSW |
6 |
129,716,096 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6640:Klri2
|
UTSW |
6 |
129,709,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6883:Klri2
|
UTSW |
6 |
129,709,985 (GRCm39) |
missense |
probably benign |
|
|
R8330:Klri2
|
UTSW |
6 |
129,710,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8947:Klri2
|
UTSW |
6 |
129,710,742 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9268:Klri2
|
UTSW |
6 |
129,710,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF009:Klri2
|
UTSW |
6 |
129,710,737 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCACATGACCTCCAGAGCATTC -3'
(R):5'- ACCTTTCATCAACCTGGGCACC -3'
Sequencing Primer
(F):5'- TGTTCCCAGTGCCAACAG -3'
(R):5'- GCACCAGCAAAGGCACTTATG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation