Incidental Mutation 'R5745:Fpr1'
| ID |
445769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fpr1
|
| Ensembl Gene |
ENSMUSG00000045551 |
| Gene Name |
formyl peptide receptor 1 |
| Synonyms |
fMLF-R, FPR |
| MMRRC Submission |
043198-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5745 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18096733-18104201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18097344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 215
(I215T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061516]
|
| AlphaFold |
P33766 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061516
AA Change: I215T
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000052894
Gene: ENSMUSG00000045551
AA Change: I215T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
51 |
312 |
8.2e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,828 (GRCm39) |
R74W |
probably damaging |
Het |
| 4933407L21Rik |
T |
G |
1: 85,858,995 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
A |
T |
15: 64,792,320 (GRCm39) |
I212N |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 64,928,801 (GRCm39) |
T879A |
probably damaging |
Het |
| Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,098,307 (GRCm39) |
N361K |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,107,761 (GRCm39) |
N830K |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 102,072,633 (GRCm39) |
D49N |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,443,238 (GRCm39) |
I514V |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,491,565 (GRCm39) |
V3668M |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,388 (GRCm39) |
I68L |
probably benign |
Het |
| Intu |
A |
G |
3: 40,647,402 (GRCm39) |
|
probably null |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,393,889 (GRCm39) |
S2781A |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,172,705 (GRCm39) |
S1211T |
probably benign |
Het |
| Nrp1 |
A |
T |
8: 129,194,929 (GRCm39) |
I462F |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,461,987 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6c5c |
T |
A |
10: 129,299,307 (GRCm39) |
I254N |
probably damaging |
Het |
| Pcsk1 |
A |
C |
13: 75,280,079 (GRCm39) |
S635R |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,246,861 (GRCm39) |
Y280* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Sema3b |
C |
A |
9: 107,478,628 (GRCm39) |
A356S |
probably damaging |
Het |
| Shoc2 |
C |
A |
19: 54,018,323 (GRCm39) |
T485K |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,615,292 (GRCm39) |
S235L |
possibly damaging |
Het |
| Smcr8 |
A |
T |
11: 60,674,977 (GRCm39) |
T918S |
probably benign |
Het |
| Tafa1 |
G |
A |
6: 96,626,146 (GRCm39) |
R128Q |
probably damaging |
Het |
| Tle3 |
C |
A |
9: 61,322,133 (GRCm39) |
F719L |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,074 (GRCm39) |
I405L |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,097,895 (GRCm39) |
H57Q |
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 |
|
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 |
|
R3440:Fpr1
|
UTSW |
17 |
18,097,420 (GRCm39) |
missense |
probably benign |
|
|
R3949:Fpr1
|
UTSW |
17 |
18,097,191 (GRCm39) |
missense |
probably benign |
|
|
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'- GAGTCATGTTCTTCAACCGTTC -3'
(R):5'- CATCGTACCCTGGATTTGTGC -3'
Sequencing Primer
(F):5'- GGATATGAGGGCCACTACTTG -3'
(R):5'- GTACCCTGGATTTGTGCATTTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation