Incidental Mutation 'IGL02996:Cd200r4'
| ID |
407150 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd200r4
|
| Ensembl Gene |
ENSMUSG00000062082 |
| Gene Name |
CD200 receptor 4 |
| Synonyms |
F630107N04Rik, MCD200RLa |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL02996
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44632096-44659513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44653396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 55
(N55K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114626]
[ENSMUST00000176321]
[ENSMUST00000176819]
|
| AlphaFold |
Q6XJV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114626
AA Change: N101K
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000110273
Gene: ENSMUSG00000062082
AA Change: N101K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
44 |
147 |
1.23e-3 |
SMART |
|
Blast:IG_like
|
149 |
270 |
2e-68 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176321
AA Change: N55K
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135162
Gene: ENSMUSG00000062082
AA Change: N55K
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
1 |
101 |
1.97e0 |
SMART |
|
Blast:IG_like
|
103 |
224 |
6e-69 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176819
AA Change: N101K
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135299
Gene: ENSMUSG00000062082
AA Change: N101K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
44 |
147 |
1.23e-3 |
SMART |
|
Blast:IG_like
|
149 |
270 |
2e-68 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galnt1 |
C |
T |
10: 127,002,872 (GRCm39) |
R130W |
probably damaging |
Het |
| Cd200r3 |
T |
C |
16: 44,774,680 (GRCm39) |
L231P |
probably damaging |
Het |
| Cyb561d1 |
C |
T |
3: 108,106,961 (GRCm39) |
R86Q |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,227,479 (GRCm39) |
S1869P |
possibly damaging |
Het |
| Dusp6 |
T |
C |
10: 99,100,628 (GRCm39) |
V208A |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,935,279 (GRCm39) |
V4248E |
probably damaging |
Het |
| Exoc6b |
T |
A |
6: 84,885,195 (GRCm39) |
D248V |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,012,674 (GRCm39) |
D2323A |
probably damaging |
Het |
| Fbxo6 |
T |
C |
4: 148,231,348 (GRCm39) |
Y144C |
probably damaging |
Het |
| Gm7334 |
C |
A |
17: 51,006,084 (GRCm39) |
N123K |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,196,273 (GRCm39) |
H518R |
possibly damaging |
Het |
| Marchf4 |
G |
A |
1: 72,468,058 (GRCm39) |
Q325* |
probably null |
Het |
| Mccc2 |
C |
A |
13: 100,097,487 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,935,519 (GRCm39) |
D1669G |
probably damaging |
Het |
| Mkrn2 |
T |
C |
6: 115,588,868 (GRCm39) |
F204L |
probably benign |
Het |
| Or1p1 |
T |
C |
11: 74,179,991 (GRCm39) |
V173A |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,970,627 (GRCm39) |
D148G |
probably benign |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Rwdd1 |
G |
T |
10: 33,878,512 (GRCm39) |
Q108K |
probably damaging |
Het |
| Senp3 |
T |
C |
11: 69,565,086 (GRCm39) |
E496G |
probably damaging |
Het |
| St6gal1 |
T |
A |
16: 23,139,904 (GRCm39) |
V25E |
probably damaging |
Het |
| Syt4 |
T |
C |
18: 31,577,199 (GRCm39) |
K52E |
probably damaging |
Het |
| Tap1 |
C |
A |
17: 34,410,370 (GRCm39) |
A349E |
probably damaging |
Het |
| Tfr2 |
T |
A |
5: 137,581,728 (GRCm39) |
M605K |
probably benign |
Het |
| Tmem192 |
A |
G |
8: 65,421,442 (GRCm39) |
|
probably null |
Het |
| Trf |
T |
C |
9: 103,098,102 (GRCm39) |
E52G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,556,531 (GRCm39) |
V30158A |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,143,991 (GRCm39) |
E152G |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,049,165 (GRCm39) |
K861N |
probably benign |
Het |
|
| Other mutations in Cd200r4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03328:Cd200r4
|
APN |
16 |
44,653,882 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
H8562:Cd200r4
|
UTSW |
16 |
44,653,736 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
H8786:Cd200r4
|
UTSW |
16 |
44,653,736 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1163:Cd200r4
|
UTSW |
16 |
44,658,383 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1168:Cd200r4
|
UTSW |
16 |
44,653,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Cd200r4
|
UTSW |
16 |
44,653,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1536:Cd200r4
|
UTSW |
16 |
44,653,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2237:Cd200r4
|
UTSW |
16 |
44,641,260 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R2239:Cd200r4
|
UTSW |
16 |
44,641,260 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R2899:Cd200r4
|
UTSW |
16 |
44,653,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Cd200r4
|
UTSW |
16 |
44,641,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3825:Cd200r4
|
UTSW |
16 |
44,641,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:Cd200r4
|
UTSW |
16 |
44,653,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5254:Cd200r4
|
UTSW |
16 |
44,652,453 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5683:Cd200r4
|
UTSW |
16 |
44,653,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5979:Cd200r4
|
UTSW |
16 |
44,653,295 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6531:Cd200r4
|
UTSW |
16 |
44,653,868 (GRCm39) |
nonsense |
probably null |
|
|
R7205:Cd200r4
|
UTSW |
16 |
44,653,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Cd200r4
|
UTSW |
16 |
44,653,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Cd200r4
|
UTSW |
16 |
44,653,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Cd200r4
|
UTSW |
16 |
44,658,338 (GRCm39) |
missense |
|
|
|
R9739:Cd200r4
|
UTSW |
16 |
44,641,142 (GRCm39) |
start gained |
probably benign |
|
|
X0063:Cd200r4
|
UTSW |
16 |
44,641,269 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation