Incidental Mutation 'R0108:Ackr4'
ID |
17468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ackr4
|
Ensembl Gene |
ENSMUSG00000079355 |
Gene Name |
atypical chemokine receptor 4 |
Synonyms |
A630091E18Rik, CCX-CKR, PPR1, CCBP2, CCR11, VSHK1, Ccrl1 |
MMRRC Submission |
038394-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0108 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
103974881-104003842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103976387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 187
(I187F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047799]
[ENSMUST00000076147]
[ENSMUST00000120854]
[ENSMUST00000188000]
[ENSMUST00000189998]
[ENSMUST00000219146]
|
AlphaFold |
Q924I3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047799
|
SMART Domains |
Protein: ENSMUSP00000043424 Gene: ENSMUSG00000090150
Domain | Start | End | E-Value | Type |
Pfam:APH
|
43 |
307 |
3.5e-45 |
PFAM |
Pfam:Acyl-CoA_dh_N
|
376 |
498 |
1.5e-13 |
PFAM |
Pfam:Acyl-CoA_dh_M
|
502 |
605 |
1.7e-21 |
PFAM |
Pfam:Acyl-CoA_dh_1
|
617 |
768 |
2.7e-36 |
PFAM |
Pfam:Acyl-CoA_dh_2
|
632 |
743 |
2e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050139
|
SMART Domains |
Protein: ENSMUSP00000062941 Gene: ENSMUSG00000041748
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076147
AA Change: I187F
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000075507 Gene: ENSMUSG00000079355 AA Change: I187F
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
20 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
58 |
303 |
8.9e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120854
|
SMART Domains |
Protein: ENSMUSP00000112994 Gene: ENSMUSG00000090150
Domain | Start | End | E-Value | Type |
Pfam:APH
|
1 |
188 |
1.1e-28 |
PFAM |
Pfam:EcKinase
|
49 |
143 |
4.8e-9 |
PFAM |
Pfam:Acyl-CoA_dh_N
|
257 |
380 |
8.7e-15 |
PFAM |
Pfam:Acyl-CoA_dh_M
|
385 |
439 |
2.4e-19 |
PFAM |
Pfam:Acyl-CoA_dh_1
|
499 |
650 |
1.3e-37 |
PFAM |
Pfam:Acyl-CoA_dh_2
|
514 |
632 |
2.7e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154431
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188000
AA Change: I187F
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000140792 Gene: ENSMUSG00000079355 AA Change: I187F
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
20 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
58 |
303 |
5.6e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189998
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219146
AA Change: I187F
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214661
|
Meta Mutation Damage Score |
0.2418 |
Coding Region Coverage |
- 1x: 87.1%
- 3x: 81.7%
- 10x: 58.7%
- 20x: 25.7%
|
Validation Efficiency |
90% (92/102) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013] PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. Mice homozygous for a different knock-out allele exhibit increased susceptibility to experimental autoimmune encephalomyelitis with increased Th17 response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,224,692 (GRCm39) |
N910K |
probably benign |
Het |
Adamts12 |
T |
C |
15: 11,311,184 (GRCm39) |
V1147A |
probably benign |
Het |
Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,111,702 (GRCm39) |
E1996G |
probably damaging |
Het |
Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
Frem2 |
G |
T |
3: 53,555,382 (GRCm39) |
D1718E |
probably benign |
Het |
Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
Gm136 |
G |
T |
4: 34,746,593 (GRCm39) |
H139Q |
possibly damaging |
Het |
Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
Mpdz |
C |
T |
4: 81,300,042 (GRCm39) |
V319I |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 109,759,071 (GRCm39) |
|
probably benign |
Het |
Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
Pcdha1 |
T |
A |
18: 37,131,809 (GRCm39) |
W293R |
probably benign |
Het |
Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
Plekho2 |
A |
T |
9: 65,466,705 (GRCm39) |
D128E |
probably damaging |
Het |
Pstpip1 |
A |
G |
9: 56,035,050 (GRCm39) |
E341G |
probably benign |
Het |
Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
Scin |
A |
G |
12: 40,177,986 (GRCm39) |
V83A |
possibly damaging |
Het |
Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
|
Other mutations in Ackr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01593:Ackr4
|
APN |
9 |
103,963,130 (GRCm39) |
intron |
probably benign |
|
IGL01859:Ackr4
|
APN |
9 |
103,963,336 (GRCm39) |
intron |
probably benign |
|
IGL02088:Ackr4
|
APN |
9 |
103,976,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R0194:Ackr4
|
UTSW |
9 |
103,976,679 (GRCm39) |
missense |
probably benign |
0.31 |
R0208:Ackr4
|
UTSW |
9 |
103,976,860 (GRCm39) |
missense |
probably benign |
|
R0519:Ackr4
|
UTSW |
9 |
103,976,650 (GRCm39) |
missense |
probably benign |
0.02 |
R0594:Ackr4
|
UTSW |
9 |
103,976,203 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0940:Ackr4
|
UTSW |
9 |
103,976,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Ackr4
|
UTSW |
9 |
103,975,930 (GRCm39) |
missense |
probably benign |
0.02 |
R4511:Ackr4
|
UTSW |
9 |
103,975,930 (GRCm39) |
missense |
probably benign |
0.02 |
R5298:Ackr4
|
UTSW |
9 |
103,976,086 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5961:Ackr4
|
UTSW |
9 |
103,976,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R6402:Ackr4
|
UTSW |
9 |
103,976,144 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6762:Ackr4
|
UTSW |
9 |
103,976,867 (GRCm39) |
missense |
probably benign |
0.06 |
R7080:Ackr4
|
UTSW |
9 |
103,976,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R8218:Ackr4
|
UTSW |
9 |
103,976,410 (GRCm39) |
missense |
probably benign |
0.06 |
R8329:Ackr4
|
UTSW |
9 |
103,976,660 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2013-01-31 |