Incidental Mutation 'IGL01744:Ackr2'
| ID |
152968 |
| 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 # |
IGL01744
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121727421-121740140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121738185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
| 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: T187A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: T187A
| 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: T187A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
C |
7: 12,284,459 (GRCm39) |
I102T |
possibly damaging |
Het |
| 4933412E24Rik |
C |
A |
15: 59,887,424 (GRCm39) |
A339S |
possibly damaging |
Het |
| Adam28 |
A |
G |
14: 68,844,956 (GRCm39) |
V777A |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,227,861 (GRCm39) |
D515E |
probably damaging |
Het |
| Aire |
C |
A |
10: 77,872,557 (GRCm39) |
E354* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,502,568 (GRCm39) |
K670R |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,162,563 (GRCm39) |
V287A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,467,230 (GRCm39) |
I851N |
probably damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,707,323 (GRCm39) |
I36F |
possibly damaging |
Het |
| Copa |
A |
G |
1: 171,940,756 (GRCm39) |
E714G |
probably benign |
Het |
| Cth |
A |
T |
3: 157,630,572 (GRCm39) |
N32K |
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,540,434 (GRCm39) |
M349K |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,966 (GRCm39) |
S188G |
unknown |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,508,271 (GRCm39) |
N1161S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,573,917 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
A |
G |
15: 89,031,046 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,417 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
C |
A |
17: 33,802,654 (GRCm39) |
|
probably benign |
Het |
| Nipsnap1 |
G |
A |
11: 4,839,912 (GRCm39) |
R211H |
probably damaging |
Het |
| Or52ab4 |
A |
G |
7: 102,987,435 (GRCm39) |
H58R |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,336,302 (GRCm39) |
I111N |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,175,859 (GRCm39) |
I1841F |
probably damaging |
Het |
| Pirb |
G |
T |
7: 3,720,175 (GRCm39) |
Y399* |
probably null |
Het |
| Ppp1r36 |
A |
T |
12: 76,486,006 (GRCm39) |
N388I |
possibly damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,061 (GRCm39) |
D180G |
possibly damaging |
Het |
| Prss39 |
A |
G |
1: 34,541,280 (GRCm39) |
|
probably null |
Het |
| Spopfm2 |
T |
A |
3: 94,083,544 (GRCm39) |
K89M |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,178,431 (GRCm39) |
V373D |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,889,923 (GRCm39) |
E186G |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,184,029 (GRCm39) |
V997A |
probably benign |
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 |
|
IGL03019:Ackr2
|
APN |
9 |
121,738,248 (GRCm39) |
missense |
probably benign |
0.43 |
|
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 |
2014-02-04 |
Incidental Mutation