Incidental Mutation 'R6762:Ackr4'
| ID |
531746 |
| 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 |
044878-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6762 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103974881-104003842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103976867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 27
(Y27H)
|
| 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 |
probably benign
Transcript: ENSMUST00000076147
AA Change: Y27H
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075507
Gene: ENSMUSG00000079355
AA Change: Y27H
| 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 |
probably benign
Transcript: ENSMUST00000188000
AA Change: Y27H
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140792
Gene: ENSMUSG00000079355
AA Change: Y27H
| 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: Y27H
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0790 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
T |
A |
4: 98,925,654 (GRCm39) |
S327T |
possibly damaging |
Het |
| Arl6ip4 |
GGAAGAAGAAGAAGAAGAA |
GGAAGAAGAAGAAGAAGAAGAA |
5: 124,255,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
A |
T |
7: 25,507,495 (GRCm39) |
L318H |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,584,824 (GRCm39) |
L3185P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,263,902 (GRCm39) |
V2128A |
probably benign |
Het |
| Ehhadh |
A |
T |
16: 21,581,209 (GRCm39) |
F594L |
probably benign |
Het |
| En2 |
A |
G |
5: 28,375,351 (GRCm39) |
N298S |
possibly damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,585 (GRCm39) |
N140Y |
probably damaging |
Het |
| Fam151b |
C |
T |
13: 92,604,558 (GRCm39) |
V144I |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 123,998,042 (GRCm39) |
A1215S |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,562,977 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,144,308 (GRCm39) |
|
probably null |
Het |
| Gm4513 |
T |
C |
7: 20,328,118 (GRCm39) |
N31S |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,279,114 (GRCm39) |
I3066F |
possibly damaging |
Het |
| Krt10 |
T |
C |
11: 99,277,883 (GRCm39) |
T355A |
possibly damaging |
Het |
| Lims1 |
C |
A |
10: 58,248,367 (GRCm39) |
H275N |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,775,001 (GRCm39) |
G112D |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,676,786 (GRCm39) |
N619K |
possibly damaging |
Het |
| Mtor |
A |
G |
4: 148,622,938 (GRCm39) |
T1977A |
possibly damaging |
Het |
| Nos2 |
T |
G |
11: 78,850,574 (GRCm39) |
L1144R |
possibly damaging |
Het |
| Or52ae7 |
G |
C |
7: 103,119,596 (GRCm39) |
V117L |
probably benign |
Het |
| Or6c68 |
G |
A |
10: 129,158,125 (GRCm39) |
C211Y |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,188 (GRCm39) |
F205I |
probably benign |
Het |
| Pals2 |
T |
A |
6: 50,157,418 (GRCm39) |
|
probably null |
Het |
| Pcdhga9 |
C |
A |
18: 37,870,321 (GRCm39) |
S50Y |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,024,219 (GRCm39) |
|
probably null |
Het |
| Qtrt1 |
T |
A |
9: 21,323,378 (GRCm39) |
H76Q |
probably damaging |
Het |
| Rpa1 |
T |
A |
11: 75,231,171 (GRCm39) |
S73C |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,702 (GRCm39) |
V157A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,495 (GRCm39) |
L178P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,093,633 (GRCm39) |
F1340L |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,301,398 (GRCm39) |
I85K |
probably benign |
Het |
| Taar2 |
C |
T |
10: 23,817,300 (GRCm39) |
T280M |
probably damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,116,237 (GRCm39) |
D177G |
probably benign |
Het |
| Tpt1 |
A |
G |
14: 76,083,821 (GRCm39) |
D94G |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,240 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,763,171 (GRCm39) |
R746H |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,967 (GRCm39) |
D70G |
probably damaging |
Het |
| Ugcg |
T |
A |
4: 59,219,530 (GRCm39) |
I289N |
possibly damaging |
Het |
| Vmn2r2 |
C |
G |
3: 64,041,870 (GRCm39) |
D282H |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,787,010 (GRCm39) |
N32K |
probably benign |
Het |
| Wdpcp |
C |
T |
11: 21,671,244 (GRCm39) |
T495I |
probably benign |
Het |
| Zfp961 |
T |
A |
8: 72,719,958 (GRCm39) |
C51S |
possibly damaging |
Het |
| Zxdc |
C |
T |
6: 90,359,165 (GRCm39) |
A599V |
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 |
|
|
IGL02088:Ackr4
|
APN |
9 |
103,976,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGGTTCAGGATGTACAC -3'
(R):5'- CCAACATGTGAGAGCTAGGC -3'
Sequencing Primer
(F):5'- GATGTACACATCGGTCTTGGTCC -3'
(R):5'- AGCTAGGCTCACACATGTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation