Incidental Mutation 'IGL02549:Cd200r1'
ID |
297965 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cd200r1
|
Ensembl Gene |
ENSMUSG00000022667 |
Gene Name |
CD200 receptor 1 |
Synonyms |
CD200R, Mox2r, OX2R |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL02549
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
44586141-44615341 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44610341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 150
(P150S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057488]
[ENSMUST00000134625]
[ENSMUST00000231633]
|
AlphaFold |
Q9ES57 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057488
AA Change: P150S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053822 Gene: ENSMUSG00000022667 AA Change: P150S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
44 |
147 |
2.41e-6 |
SMART |
Blast:IG_like
|
149 |
231 |
8e-47 |
BLAST |
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134625
AA Change: P150S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138076 Gene: ENSMUSG00000022667 AA Change: P150S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
44 |
147 |
2.41e-6 |
SMART |
Blast:IG_like
|
149 |
231 |
8e-48 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231633
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a disruption of this gene display abnormal sleep patterns including fragmented vigilance states and diminished duration of wakefulness. Mice homozygous for a different knock-out allele exhibit protection from HSV-1 encephalitis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
Adnp2 |
G |
A |
18: 80,172,333 (GRCm39) |
A692V |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,329,993 (GRCm39) |
S321P |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,618,032 (GRCm39) |
Y1919C |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,469,481 (GRCm39) |
T1111A |
probably benign |
Het |
Avpr1a |
A |
T |
10: 122,288,069 (GRCm39) |
H359L |
possibly damaging |
Het |
C1rl |
A |
T |
6: 124,470,796 (GRCm39) |
I35F |
possibly damaging |
Het |
Casp8 |
G |
A |
1: 58,872,925 (GRCm39) |
C287Y |
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,895,191 (GRCm39) |
S1437T |
probably benign |
Het |
Col2a1 |
G |
A |
15: 97,875,680 (GRCm39) |
R1202C |
unknown |
Het |
Copb1 |
A |
T |
7: 113,846,032 (GRCm39) |
D179E |
probably benign |
Het |
Cyp2c29 |
C |
T |
19: 39,298,229 (GRCm39) |
T258I |
possibly damaging |
Het |
Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
Gemin5 |
T |
C |
11: 58,025,629 (GRCm39) |
Y991C |
probably damaging |
Het |
Gm4978 |
T |
C |
9: 69,357,641 (GRCm39) |
|
probably benign |
Het |
Gm7732 |
A |
T |
17: 21,349,649 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2f |
T |
C |
X: 140,943,200 (GRCm39) |
I478V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,307,183 (GRCm39) |
H1001R |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,662 (GRCm39) |
V1173A |
probably benign |
Het |
Kansl1l |
T |
C |
1: 66,841,127 (GRCm39) |
T58A |
probably benign |
Het |
Kcnk13 |
A |
T |
12: 100,028,010 (GRCm39) |
K362* |
probably null |
Het |
Lama1 |
T |
G |
17: 68,097,830 (GRCm39) |
L1737V |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,936,200 (GRCm39) |
N625S |
probably benign |
Het |
Loxl1 |
A |
T |
9: 58,200,921 (GRCm39) |
C514S |
probably damaging |
Het |
Muc13 |
A |
C |
16: 33,628,339 (GRCm39) |
E363A |
probably damaging |
Het |
Noxo1 |
G |
T |
17: 24,919,145 (GRCm39) |
G289V |
probably damaging |
Het |
Nudt7 |
G |
T |
8: 114,878,688 (GRCm39) |
D239Y |
probably damaging |
Het |
Polr3e |
G |
T |
7: 120,538,982 (GRCm39) |
V407F |
probably damaging |
Het |
Pou5f2 |
T |
A |
13: 78,173,709 (GRCm39) |
L217Q |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,320,094 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
C |
17: 26,213,294 (GRCm39) |
N793K |
probably damaging |
Het |
Ranbp3l |
A |
G |
15: 8,997,925 (GRCm39) |
R6G |
possibly damaging |
Het |
Slco1a6 |
T |
A |
6: 142,042,141 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,428,707 (GRCm39) |
E374G |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,711,210 (GRCm39) |
Y991H |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,933,309 (GRCm39) |
Y652H |
probably damaging |
Het |
Trpc4 |
G |
A |
3: 54,129,770 (GRCm39) |
V179I |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,343,446 (GRCm39) |
T1896A |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
probably damaging |
Het |
|
Other mutations in Cd200r1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00990:Cd200r1
|
APN |
16 |
44,614,672 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02111:Cd200r1
|
APN |
16 |
44,609,144 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03065:Cd200r1
|
APN |
16 |
44,614,645 (GRCm39) |
missense |
probably benign |
0.00 |
R0218:Cd200r1
|
UTSW |
16 |
44,609,106 (GRCm39) |
splice site |
probably benign |
|
R1512:Cd200r1
|
UTSW |
16 |
44,586,390 (GRCm39) |
missense |
probably benign |
0.21 |
R3605:Cd200r1
|
UTSW |
16 |
44,609,939 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3877:Cd200r1
|
UTSW |
16 |
44,610,374 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3963:Cd200r1
|
UTSW |
16 |
44,613,158 (GRCm39) |
missense |
probably benign |
0.03 |
R4109:Cd200r1
|
UTSW |
16 |
44,610,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4171:Cd200r1
|
UTSW |
16 |
44,613,127 (GRCm39) |
missense |
probably damaging |
0.98 |
R4296:Cd200r1
|
UTSW |
16 |
44,610,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R4396:Cd200r1
|
UTSW |
16 |
44,586,417 (GRCm39) |
missense |
probably benign |
0.01 |
R4922:Cd200r1
|
UTSW |
16 |
44,610,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R5090:Cd200r1
|
UTSW |
16 |
44,609,924 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5302:Cd200r1
|
UTSW |
16 |
44,613,172 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5686:Cd200r1
|
UTSW |
16 |
44,610,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R5838:Cd200r1
|
UTSW |
16 |
44,586,397 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5886:Cd200r1
|
UTSW |
16 |
44,610,566 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5913:Cd200r1
|
UTSW |
16 |
44,610,034 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6529:Cd200r1
|
UTSW |
16 |
44,610,065 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6959:Cd200r1
|
UTSW |
16 |
44,610,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R7185:Cd200r1
|
UTSW |
16 |
44,609,975 (GRCm39) |
missense |
probably benign |
0.30 |
R7211:Cd200r1
|
UTSW |
16 |
44,609,120 (GRCm39) |
missense |
probably benign |
0.00 |
R7386:Cd200r1
|
UTSW |
16 |
44,610,211 (GRCm39) |
missense |
probably benign |
0.33 |
R7773:Cd200r1
|
UTSW |
16 |
44,610,050 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8293:Cd200r1
|
UTSW |
16 |
44,610,084 (GRCm39) |
missense |
probably benign |
0.01 |
RF007:Cd200r1
|
UTSW |
16 |
44,610,374 (GRCm39) |
missense |
possibly damaging |
0.82 |
Z1176:Cd200r1
|
UTSW |
16 |
44,613,122 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-04-16 |