Incidental Mutation 'R2899:Cd200r4'
| ID |
261423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd200r4
|
| Ensembl Gene |
ENSMUSG00000062082 |
| Gene Name |
CD200 receptor 4 |
| Synonyms |
F630107N04Rik, MCD200RLa |
| MMRRC Submission |
040487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R2899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44632096-44659513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44653728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 175
(I175T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114626]
[ENSMUST00000176321]
[ENSMUST00000176819]
|
| AlphaFold |
Q6XJV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114626
AA Change: I175T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110273
Gene: ENSMUSG00000062082
AA Change: I175T
| 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 damaging
Transcript: ENSMUST00000176321
AA Change: I129T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135162
Gene: ENSMUSG00000062082
AA Change: I129T
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
1 |
101 |
1.97e0 |
SMART |
|
Blast:IG_like
|
103 |
224 |
6e-69 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176819
AA Change: I175T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135299
Gene: ENSMUSG00000062082
AA Change: I175T
| 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 |
|
| Meta Mutation Damage Score |
0.5451 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,693,688 (GRCm39) |
S302P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,480 (GRCm39) |
Y271N |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,323 (GRCm39) |
W131* |
probably null |
Het |
| Gdf7 |
C |
T |
12: 8,348,470 (GRCm39) |
A276T |
unknown |
Het |
| Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
| Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
| Pou4f3 |
T |
C |
18: 42,528,588 (GRCm39) |
L177P |
probably benign |
Het |
| Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
| Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
C |
8: 34,628,385 (GRCm39) |
L77P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,002,124 (GRCm39) |
N69S |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,143 (GRCm39) |
L219Q |
probably damaging |
Het |
|
| Other mutations in Cd200r4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02996:Cd200r4
|
APN |
16 |
44,653,396 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGGGACTTACACATGTGAG -3'
(R):5'- TCACCTTGACTCAGTTCTATGG -3'
Sequencing Primer
(F):5'- AAGTCTATGACCTCCAAGTGCTGG -3'
(R):5'- CCTTGACTCAGTTCTATGGACAGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation