Incidental Mutation 'R4167:Cd200r3'
| ID |
320635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd200r3
|
| Ensembl Gene |
ENSMUSG00000036172 |
| Gene Name |
CD200 receptor 3 |
| Synonyms |
4833409J19Rik, mCD200RLb, 4733401I18Rik |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44764041-44801743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44774552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 188
(D188E)
|
| 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 benign
Transcript: ENSMUST00000048479
AA Change: D188E
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036624
Gene: ENSMUSG00000036172
AA Change: D188E
| 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
AA Change: D188E
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110258
Gene: ENSMUSG00000036172
AA Change: D188E
| 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 benign
Transcript: ENSMUST00000114613
AA Change: D188E
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110260
Gene: ENSMUSG00000036172
AA Change: D188E
| 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 benign
Transcript: ENSMUST00000164007
AA Change: D188E
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130480
Gene: ENSMUSG00000036172
AA Change: D188E
| 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 benign
Transcript: ENSMUST00000166731
AA Change: D188E
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128974
Gene: ENSMUSG00000036172
AA Change: D188E
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
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 |
|
R3758:Cd200r3
|
UTSW |
16 |
44,784,991 (GRCm39) |
splice site |
probably null |
|
|
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 |
PCR Primer
(F):5'- GCCAGGTAAGCCACATACTG -3'
(R):5'- GCCACATTTGTCACAAACAGATAG -3'
Sequencing Primer
(F):5'- GAGGTGCATCATCTCTGACTGAAC -3'
(R):5'- TTCTTCTTTTTAAAAATGGGGCAGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation