Incidental Mutation 'R1451:Cd200r3'
| ID |
161694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd200r3
|
| Ensembl Gene |
ENSMUSG00000036172 |
| Gene Name |
CD200 receptor 3 |
| Synonyms |
4833409J19Rik, mCD200RLb, 4733401I18Rik |
| MMRRC Submission |
039506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44764041-44801743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44771910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 58
(E58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048479]
[ENSMUST00000077178]
[ENSMUST00000114611]
[ENSMUST00000114612]
[ENSMUST00000114613]
[ENSMUST00000114622]
[ENSMUST00000164007]
[ENSMUST00000166731]
[ENSMUST00000171779]
|
| AlphaFold |
Q5UKY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048479
AA Change: E58G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036624
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
PDB:4BFI|A
|
58 |
238 |
1e-42 |
PDB |
|
Blast:IG
|
65 |
163 |
1e-21 |
BLAST |
|
Blast:IG_like
|
165 |
270 |
8e-32 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077178
AA Change: E58G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076421
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
PDB:4BFI|A
|
58 |
163 |
1e-12 |
PDB |
|
Blast:IG
|
65 |
163 |
2e-22 |
BLAST |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114611
AA Change: E58G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110258
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
PDB:4BFI|A
|
58 |
238 |
9e-43 |
PDB |
|
Blast:IG
|
65 |
163 |
1e-21 |
BLAST |
|
Blast:IG_like
|
165 |
273 |
2e-32 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114612
AA Change: E58G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110259
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
PDB:4BFI|A
|
58 |
163 |
8e-13 |
PDB |
|
Blast:IG
|
65 |
163 |
2e-22 |
BLAST |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114613
AA Change: E58G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110260
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
PDB:4BFI|A
|
58 |
238 |
9e-43 |
PDB |
|
Blast:IG
|
65 |
163 |
1e-21 |
BLAST |
|
Blast:IG_like
|
165 |
274 |
2e-32 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114622
AA Change: E58G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110269
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set
|
22 |
164 |
6.9e-6 |
PFAM |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164007
AA Change: E58G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130480
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
PDB:4BFI|A
|
58 |
238 |
1e-42 |
PDB |
|
Blast:IG
|
65 |
163 |
1e-21 |
BLAST |
|
Blast:IG_like
|
165 |
273 |
2e-32 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166731
AA Change: E58G
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128974
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
49 |
N/A |
INTRINSIC |
|
PDB:4BFI|A
|
58 |
238 |
8e-43 |
PDB |
|
Blast:IG
|
65 |
163 |
9e-22 |
BLAST |
|
Blast:IG_like
|
165 |
273 |
2e-32 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171779
AA Change: E58G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132938
Gene: ENSMUSG00000036172
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set
|
22 |
164 |
6.7e-6 |
PFAM |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
C |
14: 32,098,588 (GRCm39) |
E83G |
possibly damaging |
Het |
| Abca9 |
A |
G |
11: 110,018,273 (GRCm39) |
S1116P |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,284,322 (GRCm39) |
T296S |
probably damaging |
Het |
| Adarb2 |
A |
G |
13: 8,389,657 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
C |
T |
9: 42,903,874 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,807,049 (GRCm39) |
|
probably null |
Het |
| C1ra |
A |
T |
6: 124,498,600 (GRCm39) |
Q431L |
probably benign |
Het |
| C1s2 |
A |
T |
6: 124,602,453 (GRCm39) |
I580N |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,213,785 (GRCm39) |
T68I |
probably benign |
Het |
| Car8 |
A |
T |
4: 8,189,327 (GRCm39) |
H162Q |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,062,527 (GRCm39) |
R116G |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,419,376 (GRCm39) |
N965K |
probably benign |
Het |
| Cnksr3 |
T |
A |
10: 7,076,830 (GRCm39) |
S121C |
probably null |
Het |
| Cog6 |
T |
C |
3: 52,916,534 (GRCm39) |
M212V |
possibly damaging |
Het |
| Ebna1bp2 |
C |
A |
4: 118,478,269 (GRCm39) |
|
probably null |
Het |
| Epha1 |
C |
A |
6: 42,338,385 (GRCm39) |
M730I |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,582 (GRCm39) |
F167S |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,252,848 (GRCm39) |
E105V |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,030,108 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,881,710 (GRCm39) |
G753V |
probably damaging |
Het |
| Kif23 |
C |
T |
9: 61,832,084 (GRCm39) |
V634M |
probably damaging |
Het |
| Krt8 |
T |
C |
15: 101,907,264 (GRCm39) |
Y273C |
possibly damaging |
Het |
| Lgmn |
A |
G |
12: 102,372,151 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,845,926 (GRCm39) |
I785T |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,038,376 (GRCm39) |
|
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,316,590 (GRCm39) |
D491G |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,385,931 (GRCm39) |
S315C |
probably damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,905,878 (GRCm39) |
R24C |
possibly damaging |
Het |
| Neurog2 |
A |
G |
3: 127,427,490 (GRCm39) |
D38G |
possibly damaging |
Het |
| Or1j11 |
G |
T |
2: 36,311,877 (GRCm39) |
A156S |
probably benign |
Het |
| Or2w2 |
A |
T |
13: 21,758,457 (GRCm39) |
Y56* |
probably null |
Het |
| Or2z2 |
C |
T |
11: 58,346,358 (GRCm39) |
R139H |
probably benign |
Het |
| Or6b3 |
T |
A |
1: 92,439,517 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
| Or8g50 |
T |
A |
9: 39,648,612 (GRCm39) |
V167D |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,989 (GRCm39) |
D593V |
probably damaging |
Het |
| Pde2a |
G |
T |
7: 101,071,198 (GRCm39) |
E23* |
probably null |
Het |
| Prex2 |
G |
A |
1: 11,226,483 (GRCm39) |
V749I |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,813,809 (GRCm39) |
Y570C |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,329,007 (GRCm39) |
R1237K |
probably benign |
Het |
| Slc6a1 |
C |
A |
6: 114,284,756 (GRCm39) |
Y87* |
probably null |
Het |
| Snx13 |
G |
A |
12: 35,128,983 (GRCm39) |
A34T |
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,226,424 (GRCm39) |
L193P |
probably damaging |
Het |
| Tia1 |
A |
T |
6: 86,407,321 (GRCm39) |
Y277F |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trappc2l |
T |
C |
8: 123,342,134 (GRCm39) |
F127L |
probably damaging |
Het |
| Ushbp1 |
G |
T |
8: 71,838,663 (GRCm39) |
Q588K |
possibly damaging |
Het |
| Usp43 |
T |
A |
11: 67,747,007 (GRCm39) |
H895L |
probably benign |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,275 (GRCm39) |
C155* |
probably null |
Het |
| Vmn2r8 |
T |
A |
5: 108,945,933 (GRCm39) |
D558V |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,228 (GRCm39) |
T860A |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,565,628 (GRCm39) |
N522S |
possibly damaging |
Het |
| Zfp180 |
T |
C |
7: 23,804,643 (GRCm39) |
F354S |
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,021,984 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cd200r3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02996:Cd200r3
|
APN |
16 |
44,774,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Cd200r3
|
APN |
16 |
44,764,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03003:Cd200r3
|
APN |
16 |
44,764,138 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
IGL03005:Cd200r3
|
APN |
16 |
44,773,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03354:Cd200r3
|
APN |
16 |
44,773,960 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0620:Cd200r3
|
UTSW |
16 |
44,778,080 (GRCm39) |
splice site |
probably null |
|
|
R1623:Cd200r3
|
UTSW |
16 |
44,771,811 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2980:Cd200r3
|
UTSW |
16 |
44,774,552 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2982:Cd200r3
|
UTSW |
16 |
44,774,552 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3758:Cd200r3
|
UTSW |
16 |
44,784,991 (GRCm39) |
splice site |
probably null |
|
|
R4167:Cd200r3
|
UTSW |
16 |
44,774,552 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4168:Cd200r3
|
UTSW |
16 |
44,774,552 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4175:Cd200r3
|
UTSW |
16 |
44,774,552 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4534:Cd200r3
|
UTSW |
16 |
44,774,552 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4535:Cd200r3
|
UTSW |
16 |
44,774,552 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4801:Cd200r3
|
UTSW |
16 |
44,778,188 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4802:Cd200r3
|
UTSW |
16 |
44,778,188 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4937:Cd200r3
|
UTSW |
16 |
44,774,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5460:Cd200r3
|
UTSW |
16 |
44,778,093 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6109:Cd200r3
|
UTSW |
16 |
44,774,045 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8071:Cd200r3
|
UTSW |
16 |
44,774,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8110:Cd200r3
|
UTSW |
16 |
44,771,835 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8906:Cd200r3
|
UTSW |
16 |
44,778,102 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9068:Cd200r3
|
UTSW |
16 |
44,773,750 (GRCm39) |
splice site |
probably benign |
|
|
R9423:Cd200r3
|
UTSW |
16 |
44,771,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
|
| Posted On |
2014-03-14 |
Incidental Mutation