Incidental Mutation 'R5871:Ackr1'
| ID |
455174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ackr1
|
| Ensembl Gene |
ENSMUSG00000037872 |
| Gene Name |
atypical chemokine receptor 1 (Duffy blood group) |
| Synonyms |
Darc, CD234, Dfy, FY, CCBP1, ESTM35 |
| MMRRC Submission |
043234-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173159457-173161079 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 173159640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 293
(L293Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005470]
[ENSMUST00000038227]
[ENSMUST00000111220]
[ENSMUST00000194046]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005470
|
| SMART Domains |
Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
67 |
159 |
1.43e-8 |
SMART |
|
IG
|
169 |
262 |
6.31e-1 |
SMART |
|
IGc2
|
277 |
338 |
3.91e-6 |
SMART |
|
low complexity region
|
351 |
359 |
N/A |
INTRINSIC |
|
4.1m
|
383 |
401 |
9.24e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038227
AA Change: L293Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045134
Gene: ENSMUSG00000037872
AA Change: L293Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
26 |
317 |
1e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111220
|
| SMART Domains |
Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
IG
|
33 |
125 |
1.43e-8 |
SMART |
|
IG
|
135 |
228 |
6.31e-1 |
SMART |
|
IGc2
|
243 |
304 |
3.91e-6 |
SMART |
|
low complexity region
|
317 |
325 |
N/A |
INTRINSIC |
|
4.1m
|
349 |
367 |
9.24e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194046
|
| SMART Domains |
Protein: ENSMUSP00000141765
Gene: ENSMUSG00000037872
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194298
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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 glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are healthy, but erythrocytes lack CXC and CC chemokine-binding activity, such that when challenged with LPS result in increased inflammatory infiltrates in lung and liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13d |
A |
G |
19: 4,332,022 (GRCm39) |
V92A |
possibly damaging |
Het |
| Anxa5 |
T |
A |
3: 36,506,398 (GRCm39) |
Q218L |
possibly damaging |
Het |
| Bend6 |
T |
C |
1: 33,902,946 (GRCm39) |
M135V |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,558 (GRCm39) |
F54L |
probably benign |
Het |
| Chrng |
T |
C |
1: 87,134,451 (GRCm39) |
V164A |
possibly damaging |
Het |
| Clca3a1 |
T |
G |
3: 144,460,642 (GRCm39) |
S271R |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,752,112 (GRCm39) |
T1282I |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,519,057 (GRCm39) |
|
probably null |
Het |
| Esrrb |
A |
G |
12: 86,552,661 (GRCm39) |
Y196C |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,631,321 (GRCm39) |
D208G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,243 (GRCm39) |
E520G |
probably benign |
Het |
| Fgf9 |
A |
T |
14: 58,320,656 (GRCm39) |
|
probably null |
Het |
| Gatb |
T |
A |
3: 85,561,083 (GRCm39) |
L533* |
probably null |
Het |
| Igsf10 |
G |
T |
3: 59,237,832 (GRCm39) |
A783D |
possibly damaging |
Het |
| Ldlrap1 |
A |
G |
4: 134,486,240 (GRCm39) |
I73T |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,280 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
G |
A |
8: 40,064,693 (GRCm39) |
P327L |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,723,306 (GRCm39) |
Y823H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,039 (GRCm39) |
E835G |
probably damaging |
Het |
| Nfam1 |
A |
G |
15: 82,900,623 (GRCm39) |
S120P |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,367,984 (GRCm39) |
S217P |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,511 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,628 (GRCm39) |
I37K |
possibly damaging |
Het |
| Or9m2 |
T |
C |
2: 87,821,355 (GRCm39) |
F300S |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Pik3r3 |
G |
T |
4: 116,143,355 (GRCm39) |
E283* |
probably null |
Het |
| Plcg2 |
T |
A |
8: 118,230,956 (GRCm39) |
Y13N |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,427,796 (GRCm39) |
P490S |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,190,757 (GRCm39) |
M275K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,948,014 (GRCm39) |
E1223G |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,986,717 (GRCm39) |
N168K |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,005,045 (GRCm39) |
V425A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,387,027 (GRCm39) |
V13A |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,103,669 (GRCm39) |
|
probably null |
Het |
| Tbrg1 |
A |
G |
9: 37,562,278 (GRCm39) |
I300T |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,736,007 (GRCm39) |
D112V |
probably benign |
Het |
| Ubxn1 |
A |
G |
19: 8,851,576 (GRCm39) |
Q203R |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,381 (GRCm39) |
D180G |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,234 (GRCm39) |
F449L |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,458 (GRCm39) |
L552P |
unknown |
Het |
| Zscan10 |
A |
G |
17: 23,826,241 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ackr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02093:Ackr1
|
APN |
1 |
173,160,396 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0479:Ackr1
|
UTSW |
1 |
173,159,712 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1664:Ackr1
|
UTSW |
1 |
173,160,433 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1713:Ackr1
|
UTSW |
1 |
173,159,916 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2273:Ackr1
|
UTSW |
1 |
173,160,052 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2274:Ackr1
|
UTSW |
1 |
173,160,052 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2275:Ackr1
|
UTSW |
1 |
173,160,052 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4469:Ackr1
|
UTSW |
1 |
173,160,112 (GRCm39) |
splice site |
probably null |
|
|
R6523:Ackr1
|
UTSW |
1 |
173,160,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7062:Ackr1
|
UTSW |
1 |
173,159,682 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7751:Ackr1
|
UTSW |
1 |
173,159,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8234:Ackr1
|
UTSW |
1 |
173,159,582 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8477:Ackr1
|
UTSW |
1 |
173,159,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Ackr1
|
UTSW |
1 |
173,159,775 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8738:Ackr1
|
UTSW |
1 |
173,159,952 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8851:Ackr1
|
UTSW |
1 |
173,159,683 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9131:Ackr1
|
UTSW |
1 |
173,160,075 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9746:Ackr1
|
UTSW |
1 |
173,159,598 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGACAGCTCTAAGGAC -3'
(R):5'- GGCTGAAGATAGCACTGAGC -3'
Sequencing Primer
(F):5'- TCCTTCTCTTTAACTCCAAACAAAAC -3'
(R):5'- ACTGAGCAAGGGGCCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation