Incidental Mutation 'IGL02088:Ackr4'
| ID |
279311 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ackr4
|
| Ensembl Gene |
ENSMUSG00000079355 |
| Gene Name |
atypical chemokine receptor 4 |
| Synonyms |
A630091E18Rik, CCX-CKR, PPR1, CCBP2, CCR11, VSHK1, Ccrl1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
103974881-104003842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103976080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 289
(E289G)
|
| 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 damaging
Transcript: ENSMUST00000076147
AA Change: E289G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075507
Gene: ENSMUSG00000079355
AA Change: E289G
| 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 damaging
Transcript: ENSMUST00000188000
AA Change: E289G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140792
Gene: ENSMUSG00000079355
AA Change: E289G
| 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 damaging
Transcript: ENSMUST00000219146
AA Change: E289G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214661
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
A |
T |
6: 90,557,572 (GRCm39) |
|
probably benign |
Het |
| Ampd3 |
T |
A |
7: 110,392,893 (GRCm39) |
D220E |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,835,203 (GRCm39) |
V136A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,780,316 (GRCm39) |
K486R |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,669 (GRCm39) |
I637V |
probably benign |
Het |
| Axin2 |
T |
A |
11: 108,814,442 (GRCm39) |
F110Y |
probably damaging |
Het |
| Cdh12 |
A |
T |
15: 21,480,425 (GRCm39) |
K214* |
probably null |
Het |
| Cfap44 |
A |
C |
16: 44,271,991 (GRCm39) |
E1248A |
possibly damaging |
Het |
| Cryba4 |
A |
G |
5: 112,398,875 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,691,965 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,459,264 (GRCm39) |
|
probably null |
Het |
| Dok3 |
A |
T |
13: 55,672,183 (GRCm39) |
V165E |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,811,359 (GRCm39) |
R1147S |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,420,106 (GRCm39) |
C502* |
probably null |
Het |
| Gp2 |
A |
T |
7: 119,053,692 (GRCm39) |
Y90N |
probably damaging |
Het |
| H1f7 |
G |
T |
15: 98,155,059 (GRCm39) |
T30K |
probably damaging |
Het |
| Inka1 |
A |
G |
9: 107,861,656 (GRCm39) |
F220S |
probably damaging |
Het |
| Itfg2 |
A |
G |
6: 128,388,569 (GRCm39) |
V306A |
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,374,424 (GRCm39) |
Y219C |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,028,351 (GRCm39) |
I485N |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,659,111 (GRCm39) |
F391L |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,775,362 (GRCm39) |
|
noncoding transcript |
Het |
| Muc2 |
T |
C |
7: 141,305,241 (GRCm39) |
C182R |
probably damaging |
Het |
| Nlrp4g |
T |
C |
9: 124,350,453 (GRCm38) |
|
noncoding transcript |
Het |
| Nms |
A |
G |
1: 38,978,358 (GRCm39) |
|
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,557,444 (GRCm39) |
N503S |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,746,030 (GRCm39) |
F108S |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,415 (GRCm39) |
L285P |
probably damaging |
Het |
| Or7g16 |
C |
T |
9: 18,727,219 (GRCm39) |
V124I |
probably benign |
Het |
| Pcdhb5 |
G |
A |
18: 37,455,012 (GRCm39) |
S464N |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,039,243 (GRCm39) |
T6A |
unknown |
Het |
| Rdx |
A |
G |
9: 51,972,183 (GRCm39) |
|
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,680,479 (GRCm39) |
T403A |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,068,522 (GRCm39) |
F148L |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,715,491 (GRCm39) |
|
probably benign |
Het |
| Tnks |
T |
A |
8: 35,307,148 (GRCm39) |
I1134F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,557,035 (GRCm39) |
V29990A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,415 (GRCm39) |
|
probably benign |
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 |
|
|
R0108:Ackr4
|
UTSW |
9 |
103,976,387 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
2015-04-16 |
Incidental Mutation