Incidental Mutation 'IGL02996:Cd200r3'
| ID |
407146 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd200r3
|
| Ensembl Gene |
ENSMUSG00000036172 |
| Gene Name |
CD200 receptor 3 |
| Synonyms |
4833409J19Rik, mCD200RLb, 4733401I18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02996
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44764041-44801743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44774680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 231
(L231P)
|
| 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 |
probably damaging
Transcript: ENSMUST00000048479
AA Change: L231P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036624
Gene: ENSMUSG00000036172
AA Change: L231P
| 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 damaging
Transcript: ENSMUST00000114611
AA Change: L231P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110258
Gene: ENSMUSG00000036172
AA Change: L231P
| 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 benign
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 damaging
Transcript: ENSMUST00000114613
AA Change: L231P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110260
Gene: ENSMUSG00000036172
AA Change: L231P
| 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 |
probably damaging
Transcript: ENSMUST00000164007
AA Change: L231P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130480
Gene: ENSMUSG00000036172
AA Change: L231P
| 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 |
probably damaging
Transcript: ENSMUST00000166731
AA Change: L231P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128974
Gene: ENSMUSG00000036172
AA Change: L231P
| 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 |
|
| 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 |
| Cd200r4 |
C |
A |
16: 44,653,396 (GRCm39) |
N55K |
probably benign |
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 Cd200r3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation