Incidental Mutation 'R4168:Cd200r3'
ID |
320671 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd200r3
|
Ensembl Gene |
ENSMUSG00000036172 |
Gene Name |
CD200 receptor 3 |
Synonyms |
4833409J19Rik, mCD200RLb, 4733401I18Rik |
MMRRC Submission |
041009-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4168 (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: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
Chpf2 |
T |
C |
5: 24,796,788 (GRCm39) |
V578A |
possibly damaging |
Het |
Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
Ctif |
A |
C |
18: 75,770,286 (GRCm39) |
L33R |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
Oxct2b |
T |
C |
4: 123,011,478 (GRCm39) |
L466P |
probably damaging |
Het |
Padi6 |
A |
G |
4: 140,469,245 (GRCm39) |
C32R |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,684,673 (GRCm39) |
I261V |
probably benign |
Het |
Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
possibly damaging |
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 |
|
R4167: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'- AGTGCCAGGTAAGCCACATAC -3'
(R):5'- GCCACATTTGTCACAAACAGATAG -3'
Sequencing Primer
(F):5'- GAGGTGCATCATCTCTGACTGAAC -3'
(R):5'- TTCTTCTTTTTAAAAATGGGGCAGG -3'
|
Posted On |
2015-06-12 |