Incidental Mutation 'IGL03019:Ackr2'
| ID |
407978 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ackr2
|
| Ensembl Gene |
ENSMUSG00000044534 |
| Gene Name |
atypical chemokine receptor 2 |
| Synonyms |
chemokine decoy receptor D6, D6, Ccbp2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03019
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121727421-121740140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121738248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 208
(Y208N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050327]
[ENSMUST00000214340]
[ENSMUST00000215664]
[ENSMUST00000216326]
|
| AlphaFold |
O08707 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050327
AA Change: Y208N
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: Y208N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
62 |
311 |
1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214340
AA Change: Y208N
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216326
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased inflammatory responses but are viable and fertile without any other gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
T |
C |
10: 126,927,431 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,865,874 (GRCm39) |
I914N |
probably damaging |
Het |
| Brsk1 |
T |
C |
7: 4,713,496 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,809,282 (GRCm39) |
T256S |
probably damaging |
Het |
| Ccdc171 |
G |
T |
4: 83,713,545 (GRCm39) |
G1195W |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,411,957 (GRCm39) |
M339T |
probably damaging |
Het |
| Cir1 |
T |
C |
2: 73,116,692 (GRCm39) |
K223E |
unknown |
Het |
| Cited2 |
A |
T |
10: 17,599,910 (GRCm39) |
M73L |
probably benign |
Het |
| Drg2 |
T |
C |
11: 60,347,421 (GRCm39) |
Y37H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,846,185 (GRCm39) |
L440P |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,221,421 (GRCm39) |
P685S |
probably benign |
Het |
| Epha1 |
T |
A |
6: 42,339,686 (GRCm39) |
D639V |
probably damaging |
Het |
| Inka2 |
G |
T |
3: 105,623,687 (GRCm39) |
M1I |
probably null |
Het |
| Izumo4 |
A |
G |
10: 80,539,680 (GRCm39) |
|
probably benign |
Het |
| Kcnmb2 |
A |
T |
3: 32,252,299 (GRCm39) |
R167W |
probably damaging |
Het |
| Lce1k |
A |
C |
3: 92,714,086 (GRCm39) |
C33G |
unknown |
Het |
| Map7 |
C |
T |
10: 20,143,101 (GRCm39) |
P417S |
unknown |
Het |
| Myo18b |
A |
G |
5: 112,840,263 (GRCm39) |
V2510A |
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,647,077 (GRCm39) |
V787D |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,206,227 (GRCm39) |
L800Q |
unknown |
Het |
| Zfp276 |
C |
A |
8: 123,994,673 (GRCm39) |
T580N |
probably damaging |
Het |
| Zfp354c |
G |
T |
11: 50,708,021 (GRCm39) |
P60T |
probably damaging |
Het |
|
| Other mutations in Ackr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01743:Ackr2
|
APN |
9 |
121,738,566 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01744:Ackr2
|
APN |
9 |
121,738,185 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03143:Ackr2
|
APN |
9 |
121,738,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03398:Ackr2
|
APN |
9 |
121,737,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Ackr2
|
UTSW |
9 |
121,737,982 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0366:Ackr2
|
UTSW |
9 |
121,738,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Ackr2
|
UTSW |
9 |
121,737,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1596:Ackr2
|
UTSW |
9 |
121,738,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Ackr2
|
UTSW |
9 |
121,738,581 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2109:Ackr2
|
UTSW |
9 |
121,738,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2125:Ackr2
|
UTSW |
9 |
121,737,852 (GRCm39) |
nonsense |
probably null |
|
|
R2414:Ackr2
|
UTSW |
9 |
121,738,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4161:Ackr2
|
UTSW |
9 |
121,738,588 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4524:Ackr2
|
UTSW |
9 |
121,738,609 (GRCm39) |
missense |
probably benign |
|
|
R4732:Ackr2
|
UTSW |
9 |
121,738,249 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4733:Ackr2
|
UTSW |
9 |
121,738,249 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5809:Ackr2
|
UTSW |
9 |
121,738,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Ackr2
|
UTSW |
9 |
121,738,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Ackr2
|
UTSW |
9 |
121,737,943 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7267:Ackr2
|
UTSW |
9 |
121,737,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Ackr2
|
UTSW |
9 |
121,738,374 (GRCm39) |
missense |
probably benign |
|
|
R8090:Ackr2
|
UTSW |
9 |
121,738,045 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9074:Ackr2
|
UTSW |
9 |
121,737,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Ackr2
|
UTSW |
9 |
121,737,657 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2016-08-02 |
Incidental Mutation