Incidental Mutation 'R9033:Fpr1'
| ID |
687195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fpr1
|
| Ensembl Gene |
ENSMUSG00000045551 |
| Gene Name |
formyl peptide receptor 1 |
| Synonyms |
fMLF-R, FPR |
| MMRRC Submission |
068862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18096733-18104201 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 18097691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 99
(W99*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061516]
|
| AlphaFold |
P33766 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061516
AA Change: W99*
|
| SMART Domains |
Protein: ENSMUSP00000052894
Gene: ENSMUSG00000045551
AA Change: W99*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
51 |
312 |
8.2e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
94% (30/32) |
| 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 |
|---|
| A730049H05Rik |
G |
A |
6: 92,808,934 (GRCm39) |
G87D |
unknown |
Het |
| Actg1 |
T |
C |
11: 120,237,826 (GRCm39) |
K238R |
probably benign |
Het |
| Arhgef10l |
G |
A |
4: 140,321,463 (GRCm39) |
R115C |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,405,865 (GRCm39) |
F1584S |
probably damaging |
Het |
| Atp2b4 |
C |
T |
1: 133,634,725 (GRCm39) |
R1168H |
probably benign |
Het |
| Catsper1 |
G |
A |
19: 5,387,864 (GRCm39) |
|
probably null |
Het |
| Chgb |
A |
C |
2: 132,634,914 (GRCm39) |
K285N |
probably damaging |
Het |
| Csnk1g1 |
A |
G |
9: 65,915,070 (GRCm39) |
Y243C |
probably damaging |
Het |
| Dpysl5 |
G |
T |
5: 30,948,941 (GRCm39) |
D399Y |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,646,475 (GRCm39) |
R259G |
probably benign |
Het |
| Foxf2 |
C |
T |
13: 31,810,085 (GRCm39) |
P8L |
unknown |
Het |
| Itprid2 |
A |
G |
2: 79,465,938 (GRCm39) |
S19G |
probably damaging |
Het |
| Kansl1 |
A |
G |
11: 104,248,356 (GRCm39) |
S533P |
probably benign |
Het |
| Klhl25 |
T |
A |
7: 75,516,681 (GRCm39) |
M529K |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,465,651 (GRCm39) |
R697H |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,105,396 (GRCm39) |
V1515I |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,302,138 (GRCm39) |
F926L |
probably damaging |
Het |
| Pfkfb2 |
T |
A |
1: 130,626,475 (GRCm39) |
K433* |
probably null |
Het |
| Pirb |
G |
C |
7: 3,720,584 (GRCm39) |
Q305E |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,967,585 (GRCm39) |
D90G |
probably damaging |
Het |
| Rergl |
T |
C |
6: 139,471,900 (GRCm39) |
Y83C |
probably damaging |
Het |
| Rorb |
G |
A |
19: 18,965,422 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,236 (GRCm39) |
Q948R |
probably damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,237,457 (GRCm39) |
R147* |
probably null |
Het |
| Tdpoz6 |
T |
C |
3: 93,600,168 (GRCm39) |
Y67C |
probably damaging |
Het |
| Tdrd7 |
G |
T |
4: 46,007,468 (GRCm39) |
D507Y |
probably damaging |
Het |
| Tspan31 |
C |
A |
10: 126,904,349 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,923,499 (GRCm39) |
|
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,414 (GRCm39) |
Y311N |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,818,492 (GRCm39) |
S639T |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,780,655 (GRCm39) |
F168L |
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 |
|
|
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 |
|
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'- GGACTGTGGTCAAACGAATGATAAC -3'
(R):5'- GCCGTCACATTTGTCCTTGG -3'
Sequencing Primer
(F):5'- AAATCCAGGGTACGATGATTACC -3'
(R):5'- CCTTGGGGTTCTGGGCAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation