Incidental Mutation 'IGL01704:Fpr1'
| ID |
104527 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fpr1
|
| Ensembl Gene |
ENSMUSG00000045551 |
| Gene Name |
formyl peptide receptor 1 |
| Synonyms |
fMLF-R, FPR |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01704
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
18096733-18104201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18097234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 252
(R252W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061516]
|
| AlphaFold |
P33766 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061516
AA Change: R252W
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052894
Gene: ENSMUSG00000045551
AA Change: R252W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
51 |
312 |
8.2e-40 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]
PHENOTYPE: Targeted null mice are viable and developmentally normal but show increased susceptibility to L. monocytogenes challenge, as shown by increased mortality and bacterial burden in liver/spleen early post-infection. Mutant neutrophils fail to respond to fMLF either in calcium flux or chemotaxis assays. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brsk1 |
A |
G |
7: 4,707,260 (GRCm39) |
E271G |
probably benign |
Het |
| Card9 |
A |
G |
2: 26,246,874 (GRCm39) |
F325L |
probably benign |
Het |
| Cct8l1 |
T |
A |
5: 25,722,097 (GRCm39) |
S271T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,800,979 (GRCm39) |
Y125H |
probably benign |
Het |
| Csn1s2b |
T |
G |
5: 87,960,970 (GRCm39) |
S25R |
probably damaging |
Het |
| Dnmt1 |
C |
T |
9: 20,821,476 (GRCm39) |
V1227I |
probably damaging |
Het |
| Gm15155 |
T |
A |
X: 155,086,252 (GRCm39) |
D69E |
unknown |
Het |
| Hltf |
T |
C |
3: 20,137,910 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,056,692 (GRCm39) |
I130V |
possibly damaging |
Het |
| Klra9 |
G |
T |
6: 130,166,744 (GRCm39) |
S40* |
probably null |
Het |
| Ldoc1 |
C |
A |
X: 60,753,537 (GRCm39) |
Y74* |
probably null |
Het |
| Lias |
G |
T |
5: 65,562,673 (GRCm39) |
V318F |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,926,932 (GRCm39) |
V48A |
possibly damaging |
Het |
| Myo9b |
C |
T |
8: 71,812,286 (GRCm39) |
P2019L |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,059,588 (GRCm39) |
|
probably benign |
Het |
| Or5b97 |
T |
C |
19: 12,879,103 (GRCm39) |
I14V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,839,783 (GRCm39) |
D497G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,717,504 (GRCm39) |
D1535G |
probably damaging |
Het |
| Pcx |
G |
T |
19: 4,671,088 (GRCm39) |
K1103N |
probably damaging |
Het |
| Pdgfd |
G |
A |
9: 6,337,327 (GRCm39) |
V220M |
probably damaging |
Het |
| Pola2 |
A |
G |
19: 5,992,047 (GRCm39) |
S542P |
probably damaging |
Het |
| Ppip5k1 |
G |
A |
2: 121,142,555 (GRCm39) |
T1278M |
possibly damaging |
Het |
| Pramel11 |
C |
T |
4: 143,622,201 (GRCm39) |
D385N |
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,262,795 (GRCm39) |
V11A |
possibly damaging |
Het |
| Rhox2f |
T |
A |
X: 36,753,634 (GRCm39) |
V124E |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,340,702 (GRCm39) |
|
probably null |
Het |
| Slc38a10 |
T |
C |
11: 120,041,913 (GRCm39) |
|
probably benign |
Het |
| Smco1 |
T |
C |
16: 32,092,704 (GRCm39) |
V125A |
probably benign |
Het |
| Tg |
A |
T |
15: 66,543,200 (GRCm39) |
Q38L |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,630,192 (GRCm39) |
S633T |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,168,073 (GRCm39) |
F776L |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,895,676 (GRCm39) |
V724G |
possibly damaging |
Het |
|
| Other mutations in Fpr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Fpr1
|
APN |
17 |
18,097,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01473:Fpr1
|
APN |
17 |
18,097,954 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01900:Fpr1
|
APN |
17 |
18,097,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02548:Fpr1
|
APN |
17 |
18,096,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
G5030:Fpr1
|
UTSW |
17 |
18,097,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Fpr1
|
UTSW |
17 |
18,097,155 (GRCm39) |
missense |
probably benign |
|
|
R0284:Fpr1
|
UTSW |
17 |
18,097,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1440:Fpr1
|
UTSW |
17 |
18,097,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1631:Fpr1
|
UTSW |
17 |
18,097,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1823:Fpr1
|
UTSW |
17 |
18,097,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1994:Fpr1
|
UTSW |
17 |
18,097,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2168:Fpr1
|
UTSW |
17 |
18,097,471 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2364:Fpr1
|
UTSW |
17 |
18,097,872 (GRCm39) |
nonsense |
probably null |
|
|
R3110:Fpr1
|
UTSW |
17 |
18,096,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3111:Fpr1
|
UTSW |
17 |
18,096,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3112:Fpr1
|
UTSW |
17 |
18,096,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3440:Fpr1
|
UTSW |
17 |
18,097,420 (GRCm39) |
missense |
probably benign |
|
|
R3949:Fpr1
|
UTSW |
17 |
18,097,191 (GRCm39) |
missense |
probably benign |
|
|
R5745:Fpr1
|
UTSW |
17 |
18,097,344 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5750:Fpr1
|
UTSW |
17 |
18,097,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6130:Fpr1
|
UTSW |
17 |
18,097,897 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6187:Fpr1
|
UTSW |
17 |
18,097,190 (GRCm39) |
nonsense |
probably null |
|
|
R7017:Fpr1
|
UTSW |
17 |
18,097,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7358:Fpr1
|
UTSW |
17 |
18,097,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7840:Fpr1
|
UTSW |
17 |
18,097,634 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8762:Fpr1
|
UTSW |
17 |
18,097,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9033:Fpr1
|
UTSW |
17 |
18,097,691 (GRCm39) |
nonsense |
probably null |
|
|
R9080:Fpr1
|
UTSW |
17 |
18,097,212 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9144:Fpr1
|
UTSW |
17 |
18,097,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Fpr1
|
UTSW |
17 |
18,098,006 (GRCm39) |
splice site |
probably benign |
|
|
R9655:Fpr1
|
UTSW |
17 |
18,097,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation