Incidental Mutation 'R2414:Ackr2'
| ID |
250109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ackr2
|
| Ensembl Gene |
ENSMUSG00000044534 |
| Gene Name |
atypical chemokine receptor 2 |
| Synonyms |
chemokine decoy receptor D6, D6, Ccbp2 |
| MMRRC Submission |
040378-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121727421-121740140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 121738040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 138
(S138R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050327]
[ENSMUST00000214340]
[ENSMUST00000215664]
[ENSMUST00000216326]
|
| AlphaFold |
O08707 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050327
AA Change: S138R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: S138R
| 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 damaging
Transcript: ENSMUST00000214340
AA Change: S138R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216326
|
| Meta Mutation Damage Score |
0.8610 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (38/38) |
| 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 |
|---|
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
| BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
| Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,079,392 (GRCm39) |
E103G |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,304,283 (GRCm39) |
|
probably benign |
Het |
| Epor |
T |
A |
9: 21,870,785 (GRCm39) |
D365V |
probably damaging |
Het |
| H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,315,587 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
| Msi2 |
A |
G |
11: 88,607,373 (GRCm39) |
V78A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
A |
G |
15: 80,890,946 (GRCm39) |
N136D |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,954 (GRCm39) |
W276R |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
| Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
| Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,036,032 (GRCm39) |
G295* |
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACGGACGATGGAGCTTTAC -3'
(R):5'- GCAGGTACAGCTTCCAAATGG -3'
Sequencing Primer
(F):5'- GATGGAGCTTTACCTGCTGAACC -3'
(R):5'- AGCTTCCAAATGGTCGCATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation