Incidental Mutation 'R3758:Cd200r3'
| ID |
473498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd200r3
|
| Ensembl Gene |
ENSMUSG00000036172 |
| Gene Name |
CD200 receptor 3 |
| Synonyms |
4833409J19Rik, mCD200RLb, 4733401I18Rik |
| MMRRC Submission |
040739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R3758 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44764041-44801743 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 44784991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048479]
[ENSMUST00000077178]
[ENSMUST00000114611]
[ENSMUST00000114612]
[ENSMUST00000114613]
[ENSMUST00000114622]
[ENSMUST00000166731]
[ENSMUST00000171779]
[ENSMUST00000164007]
|
| AlphaFold |
Q5UKY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048479
|
| SMART Domains |
Protein: ENSMUSP00000036624
Gene: ENSMUSG00000036172
| 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 |
probably benign
Transcript: ENSMUST00000077178
|
| SMART Domains |
Protein: ENSMUSP00000076421
Gene: ENSMUSG00000036172
| 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 |
probably benign
Transcript: ENSMUST00000114611
|
| SMART Domains |
Protein: ENSMUSP00000110258
Gene: ENSMUSG00000036172
| 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 |
probably null
Transcript: ENSMUST00000114612
|
| SMART Domains |
Protein: ENSMUSP00000110259
Gene: ENSMUSG00000036172
| 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 |
probably null
Transcript: ENSMUST00000114613
|
| SMART Domains |
Protein: ENSMUSP00000110260
Gene: ENSMUSG00000036172
| 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 |
probably benign
Transcript: ENSMUST00000114622
|
| SMART Domains |
Protein: ENSMUSP00000110269
Gene: ENSMUSG00000036172
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set
|
22 |
164 |
6.9e-6 |
PFAM |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163358
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166731
|
| SMART Domains |
Protein: ENSMUSP00000128974
Gene: ENSMUSG00000036172
| 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 |
probably benign
Transcript: ENSMUST00000171779
|
| SMART Domains |
Protein: ENSMUSP00000132938
Gene: ENSMUSG00000036172
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set
|
22 |
164 |
6.7e-6 |
PFAM |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164007
|
| SMART Domains |
Protein: ENSMUSP00000130480
Gene: ENSMUSG00000036172
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
93% (28/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,146,354 (GRCm39) |
|
probably benign |
Het |
| Bcat1 |
T |
A |
6: 144,978,598 (GRCm39) |
I208F |
probably damaging |
Het |
| Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
| Coq8b |
C |
T |
7: 26,941,652 (GRCm39) |
Q246* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,233,363 (GRCm39) |
S616P |
probably damaging |
Het |
| Fkbp10 |
G |
A |
11: 100,313,451 (GRCm39) |
|
probably null |
Het |
| Gabra1 |
G |
T |
11: 42,066,763 (GRCm39) |
D50E |
probably benign |
Het |
| H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,406 (GRCm39) |
N103S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,053,314 (GRCm39) |
H2549R |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,602 (GRCm39) |
N706D |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,996,628 (GRCm39) |
|
probably null |
Het |
| Mtcl2 |
T |
C |
2: 156,862,558 (GRCm39) |
N1457S |
possibly damaging |
Het |
| Nipa2 |
T |
C |
7: 55,585,689 (GRCm39) |
Y102C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,631,641 (GRCm39) |
C32* |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,916 (GRCm39) |
F105L |
probably benign |
Het |
| Or52r1b |
A |
G |
7: 102,691,177 (GRCm39) |
S159G |
probably benign |
Het |
| Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,476,079 (GRCm39) |
D405G |
possibly damaging |
Het |
| Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,219,571 (GRCm39) |
Y166C |
probably damaging |
Het |
| Sprr1a |
T |
G |
3: 92,391,704 (GRCm39) |
K99T |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,877,924 (GRCm39) |
V133A |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,915,768 (GRCm39) |
T391A |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,035 (GRCm39) |
E447G |
probably damaging |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
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 |
|
|
R1451:Cd200r3
|
UTSW |
16 |
44,771,910 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
|
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 |
2017-04-14 |
Incidental Mutation