Incidental Mutation 'R3605:Cd200r1'
| ID |
269067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd200r1
|
| Ensembl Gene |
ENSMUSG00000022667 |
| Gene Name |
CD200 receptor 1 |
| Synonyms |
CD200R, Mox2r, OX2R |
| MMRRC Submission |
040670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R3605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44586141-44615341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44609939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 53
(T53A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057488]
[ENSMUST00000134625]
[ENSMUST00000231633]
|
| AlphaFold |
Q9ES57 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057488
AA Change: T53A
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053822
Gene: ENSMUSG00000022667
AA Change: T53A
| 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 |
possibly damaging
Transcript: ENSMUST00000134625
AA Change: T53A
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138076
Gene: ENSMUSG00000022667
AA Change: T53A
| 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
|
| Meta Mutation Damage Score |
0.2417 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (40/42) |
| 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 |
|---|
| Ankrd35 |
C |
T |
3: 96,589,497 (GRCm39) |
Q239* |
probably null |
Het |
| Arid4b |
T |
C |
13: 14,294,826 (GRCm39) |
V36A |
probably damaging |
Het |
| Art2b |
T |
A |
7: 101,229,152 (GRCm39) |
N249I |
probably benign |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,077 (GRCm39) |
T1016S |
probably damaging |
Het |
| Esrrg |
A |
G |
1: 187,943,299 (GRCm39) |
H424R |
possibly damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,503,287 (GRCm39) |
N114Y |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,815,253 (GRCm39) |
V3662A |
probably benign |
Het |
| Gabra6 |
T |
A |
11: 42,205,777 (GRCm39) |
I359F |
probably benign |
Het |
| Gal |
A |
G |
19: 3,464,026 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm5814 |
G |
T |
17: 47,721,430 (GRCm39) |
R48L |
probably damaging |
Het |
| Hcn1 |
G |
A |
13: 118,111,788 (GRCm39) |
G584D |
unknown |
Het |
| Iqgap1 |
T |
C |
7: 80,373,537 (GRCm39) |
D1484G |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,974,873 (GRCm39) |
C93Y |
unknown |
Het |
| Mnt |
T |
A |
11: 74,727,746 (GRCm39) |
S211T |
possibly damaging |
Het |
| Mtdh |
T |
A |
15: 34,114,258 (GRCm39) |
|
probably benign |
Het |
| Nxt1 |
T |
C |
2: 148,517,399 (GRCm39) |
W47R |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,873,168 (GRCm39) |
I70F |
probably benign |
Het |
| Or5k3 |
T |
C |
16: 58,969,846 (GRCm39) |
I211T |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,763,477 (GRCm39) |
D313G |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,768,395 (GRCm39) |
D411G |
probably damaging |
Het |
| Sapcd1 |
A |
G |
17: 35,246,781 (GRCm39) |
F36L |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,066,542 (GRCm39) |
S3181T |
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 115,938,960 (GRCm39) |
T314I |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,894,467 (GRCm39) |
C685* |
probably null |
Het |
| Tk2 |
A |
G |
8: 104,957,803 (GRCm39) |
V181A |
possibly damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,661,788 (GRCm39) |
|
probably null |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,508 (GRCm39) |
L151* |
probably null |
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 |
|
IGL02549:Cd200r1
|
APN |
16 |
44,610,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACATGCCTGAACCTTTACTTTAG -3'
(R):5'- GAAGTTCAGGACTGTGGTCAG -3'
Sequencing Primer
(F):5'- GCCTGAACCTTTACTTTAGAAGATG -3'
(R):5'- TCAGGTGTGGAGGCCCAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation