Incidental Mutation 'IGL02202:Cd200r2'
ID |
284364 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cd200r2
|
Ensembl Gene |
ENSMUSG00000090176 |
Gene Name |
Cd200 receptor 2 |
Synonyms |
CD200 cell surface glycoprotein receptor isoform 2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL02202
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
44687460-44736203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44729723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 126
(L126Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102805]
|
AlphaFold |
Q6XJV6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102805
AA Change: L126Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099869 Gene: ENSMUSG00000090176 AA Change: L126Q
Domain | Start | End | E-Value | Type |
IG
|
23 |
126 |
1.06e-2 |
SMART |
IG_like
|
128 |
249 |
1.85e2 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,238,529 (GRCm39) |
T709I |
possibly damaging |
Het |
Acte1 |
T |
A |
7: 143,447,910 (GRCm39) |
M251K |
possibly damaging |
Het |
Arhgef1 |
T |
A |
7: 24,612,854 (GRCm39) |
Y185* |
probably null |
Het |
Atxn7l1 |
T |
C |
12: 33,392,077 (GRCm39) |
S218P |
probably benign |
Het |
Cdc6 |
T |
A |
11: 98,811,641 (GRCm39) |
|
probably null |
Het |
Cenph |
T |
C |
13: 100,898,381 (GRCm39) |
N174S |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,936,207 (GRCm39) |
R49G |
possibly damaging |
Het |
Edrf1 |
A |
G |
7: 133,258,699 (GRCm39) |
T692A |
probably benign |
Het |
Frem2 |
A |
T |
3: 53,562,220 (GRCm39) |
H762Q |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,764,596 (GRCm39) |
D1185G |
probably damaging |
Het |
Hsd3b2 |
T |
A |
3: 98,619,183 (GRCm39) |
Y254F |
possibly damaging |
Het |
Itgal |
C |
A |
7: 126,929,351 (GRCm39) |
Y1089* |
probably null |
Het |
Klf11 |
T |
G |
12: 24,703,631 (GRCm39) |
V22G |
probably benign |
Het |
Morc3 |
T |
C |
16: 93,667,749 (GRCm39) |
V636A |
probably benign |
Het |
Nin |
T |
A |
12: 70,102,210 (GRCm39) |
D330V |
probably damaging |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Ntsr2 |
T |
A |
12: 16,703,661 (GRCm39) |
V54E |
probably damaging |
Het |
Or7g27 |
C |
A |
9: 19,250,545 (GRCm39) |
A263E |
probably benign |
Het |
Pdha2 |
T |
C |
3: 140,916,412 (GRCm39) |
I365M |
probably benign |
Het |
Prr19 |
T |
C |
7: 25,003,462 (GRCm39) |
S359P |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,745,274 (GRCm39) |
K2040E |
probably damaging |
Het |
Ryr2 |
C |
A |
13: 11,762,544 (GRCm39) |
|
probably benign |
Het |
Sema4a |
G |
T |
3: 88,357,050 (GRCm39) |
A307E |
probably damaging |
Het |
Setd5 |
T |
A |
6: 113,127,976 (GRCm39) |
S1310T |
probably benign |
Het |
Tph1 |
A |
T |
7: 46,303,185 (GRCm39) |
D264E |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 128,858,501 (GRCm39) |
L844P |
probably damaging |
Het |
|
Other mutations in Cd200r2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Cd200r2
|
APN |
16 |
44,729,651 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01019:Cd200r2
|
APN |
16 |
44,729,832 (GRCm39) |
splice site |
probably benign |
|
IGL01480:Cd200r2
|
APN |
16 |
44,729,629 (GRCm39) |
missense |
probably null |
1.00 |
IGL01510:Cd200r2
|
APN |
16 |
44,729,674 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02492:Cd200r2
|
APN |
16 |
44,729,903 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02499:Cd200r2
|
APN |
16 |
44,734,948 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0066:Cd200r2
|
UTSW |
16 |
44,730,037 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0066:Cd200r2
|
UTSW |
16 |
44,730,037 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0503:Cd200r2
|
UTSW |
16 |
44,698,325 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
R0526:Cd200r2
|
UTSW |
16 |
44,735,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R1118:Cd200r2
|
UTSW |
16 |
44,729,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R1119:Cd200r2
|
UTSW |
16 |
44,729,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R2393:Cd200r2
|
UTSW |
16 |
44,729,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R5450:Cd200r2
|
UTSW |
16 |
44,729,934 (GRCm39) |
missense |
probably benign |
0.04 |
R7466:Cd200r2
|
UTSW |
16 |
44,729,537 (GRCm39) |
missense |
probably damaging |
0.97 |
R9762:Cd200r2
|
UTSW |
16 |
44,729,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |