Incidental Mutation 'R3440:Fpr1'
ID |
267361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fpr1
|
Ensembl Gene |
ENSMUSG00000045551 |
Gene Name |
formyl peptide receptor 1 |
Synonyms |
fMLF-R, FPR |
MMRRC Submission |
040658-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3440 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
18096733-18104201 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 18097420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 190
(D190N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061516]
|
AlphaFold |
P33766 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061516
AA Change: D190N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052894 Gene: ENSMUSG00000045551 AA Change: D190N
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
51 |
312 |
8.2e-40 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (29/30) |
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
C |
A |
2: 103,397,577 (GRCm39) |
A169E |
probably benign |
Het |
Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
Agmo |
C |
T |
12: 37,293,799 (GRCm39) |
T74I |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,865,602 (GRCm39) |
V862A |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,096,061 (GRCm39) |
Q4614* |
probably null |
Het |
Cavin2 |
T |
A |
1: 51,340,565 (GRCm39) |
V414E |
probably damaging |
Het |
Clrn3 |
A |
C |
7: 135,115,854 (GRCm39) |
Y165* |
probably null |
Het |
Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
Dhrs3 |
T |
A |
4: 144,646,628 (GRCm39) |
M226K |
probably damaging |
Het |
Fignl2 |
A |
G |
15: 100,951,004 (GRCm39) |
F426S |
unknown |
Het |
Grik3 |
C |
A |
4: 125,587,763 (GRCm39) |
L628M |
probably damaging |
Het |
Grik3 |
T |
A |
4: 125,587,764 (GRCm39) |
L628Q |
probably damaging |
Het |
Grin2c |
T |
A |
11: 115,141,469 (GRCm39) |
D883V |
probably damaging |
Het |
Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
H2-Eb1 |
A |
G |
17: 34,528,655 (GRCm39) |
E62G |
probably damaging |
Het |
Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
Lef1 |
A |
G |
3: 130,978,407 (GRCm39) |
D175G |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,352,658 (GRCm39) |
|
probably null |
Het |
Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
Pgr |
A |
T |
9: 8,922,630 (GRCm39) |
N600I |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Selp |
T |
C |
1: 163,951,344 (GRCm39) |
F26S |
probably benign |
Het |
Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
Zfat |
A |
T |
15: 67,956,402 (GRCm39) |
D1143E |
probably benign |
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 |
IGL01704:Fpr1
|
APN |
17 |
18,097,234 (GRCm39) |
missense |
possibly damaging |
0.64 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGGCCACTACTTGAAATGGG -3'
(R):5'- TGTTCTGCATCCAGTCTGGG -3'
Sequencing Primer
(F):5'- CAAAGGACGGCTGGATTTGATC -3'
(R):5'- TGCATCCAGTCTGGGCTCAG -3'
|
Posted On |
2015-02-18 |