Incidental Mutation 'R4534:Cd200r3'
ID |
333260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd200r3
|
Ensembl Gene |
ENSMUSG00000036172 |
Gene Name |
CD200 receptor 3 |
Synonyms |
4833409J19Rik, mCD200RLb, 4733401I18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R4534 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl3 |
C |
T |
4: 98,926,232 (GRCm39) |
T454I |
possibly damaging |
Het |
Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
Clstn3 |
C |
T |
6: 124,436,179 (GRCm39) |
R190Q |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
C |
T |
5: 139,137,282 (GRCm39) |
Q212* |
probably null |
Het |
Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
Eri2 |
T |
C |
7: 119,389,466 (GRCm39) |
T151A |
probably damaging |
Het |
Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
Gm10320 |
G |
A |
13: 98,626,316 (GRCm39) |
P23S |
probably benign |
Het |
Hbs1l |
A |
G |
10: 21,217,814 (GRCm39) |
I240M |
possibly damaging |
Het |
Heatr5b |
T |
C |
17: 79,118,025 (GRCm39) |
H806R |
possibly damaging |
Het |
Herc3 |
T |
C |
6: 58,837,332 (GRCm39) |
V335A |
probably benign |
Het |
Ifi205 |
G |
A |
1: 173,845,207 (GRCm39) |
P192S |
probably benign |
Het |
Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
Ifna9 |
T |
C |
4: 88,510,285 (GRCm39) |
H113R |
possibly damaging |
Het |
Il17rd |
T |
C |
14: 26,818,019 (GRCm39) |
F236S |
probably damaging |
Het |
Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
Jmjd8 |
C |
T |
17: 26,047,984 (GRCm39) |
|
probably null |
Het |
Lhx3 |
C |
T |
2: 26,094,026 (GRCm39) |
V66I |
probably benign |
Het |
Nt5c2 |
C |
T |
19: 46,880,100 (GRCm39) |
C336Y |
probably damaging |
Het |
Ntrk2 |
G |
A |
13: 59,274,343 (GRCm39) |
V740I |
probably damaging |
Het |
Ocln |
A |
T |
13: 100,648,112 (GRCm39) |
I104N |
possibly damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,613 (GRCm39) |
I101V |
probably benign |
Het |
Or8g54 |
G |
T |
9: 39,707,296 (GRCm39) |
L208F |
probably benign |
Het |
Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
Sh3glb1 |
T |
A |
3: 144,405,624 (GRCm39) |
E77D |
possibly damaging |
Het |
Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
Spopfm2 |
T |
C |
3: 94,083,757 (GRCm39) |
Y18C |
probably benign |
Het |
Stox2 |
A |
T |
8: 47,646,414 (GRCm39) |
S287T |
probably damaging |
Het |
Sycp2 |
C |
A |
2: 177,996,802 (GRCm39) |
V1134F |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,953,931 (GRCm39) |
S1260N |
possibly damaging |
Het |
Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
Thoc5 |
C |
T |
11: 4,874,807 (GRCm39) |
R533* |
probably null |
Het |
Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
Uchl5 |
C |
T |
1: 143,661,954 (GRCm39) |
T76I |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
Xpa |
T |
C |
4: 46,185,624 (GRCm39) |
N118S |
probably benign |
Het |
Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
Het |
Xylt2 |
T |
C |
11: 94,557,176 (GRCm39) |
D105G |
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 |
|
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 |
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'- TGGCCACATTTGTCACAAACAG -3'
Sequencing Primer
(F):5'- GAGGTGCATCATCTCTGACTGAAC -3'
(R):5'- TTCTTCTTTTTAAAAATGGGGCAGG -3'
|
Posted On |
2015-08-18 |