Incidental Mutation 'R2364:Fpr1'
| ID |
247287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fpr1
|
| Ensembl Gene |
ENSMUSG00000045551 |
| Gene Name |
formyl peptide receptor 1 |
| Synonyms |
fMLF-R, FPR |
| MMRRC Submission |
040345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2364 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18096733-18104201 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 18097872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 39
(L39*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061516]
|
| AlphaFold |
P33766 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061516
AA Change: L39*
|
| SMART Domains |
Protein: ENSMUSP00000052894
Gene: ENSMUSG00000045551
AA Change: L39*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
51 |
312 |
8.2e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,871,584 (GRCm39) |
S268P |
probably benign |
Het |
| Adam6a |
A |
G |
12: 113,508,250 (GRCm39) |
K208E |
probably benign |
Het |
| Anks6 |
A |
G |
4: 47,027,248 (GRCm39) |
S725P |
possibly damaging |
Het |
| Asb3 |
A |
G |
11: 31,051,192 (GRCm39) |
I549V |
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,147,558 (GRCm39) |
I6V |
possibly damaging |
Het |
| Cabs1 |
A |
T |
5: 88,128,092 (GRCm39) |
T248S |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,279,046 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Gstm5 |
A |
G |
3: 107,803,687 (GRCm39) |
E40G |
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,054,640 (GRCm39) |
M97V |
possibly damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,107,800 (GRCm39) |
V21A |
probably benign |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,187 (GRCm39) |
F537I |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,224,820 (GRCm39) |
D216G |
probably benign |
Het |
| Kif2a |
A |
T |
13: 107,113,344 (GRCm39) |
N428K |
probably damaging |
Het |
| Mapk10 |
G |
T |
5: 103,186,507 (GRCm39) |
N38K |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,185,344 (GRCm39) |
E865G |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,577 (GRCm39) |
Y252H |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,612 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5b104 |
A |
G |
19: 13,072,118 (GRCm39) |
V298A |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,007 (GRCm39) |
K180N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,991 (GRCm39) |
I506F |
probably damaging |
Het |
| Pros1 |
T |
G |
16: 62,734,211 (GRCm39) |
L339R |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,209 (GRCm39) |
I266V |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,899,391 (GRCm39) |
V632A |
probably damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,691,559 (GRCm39) |
C298* |
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,668,167 (GRCm39) |
D232E |
probably benign |
Het |
| Vamp1 |
A |
T |
6: 125,217,306 (GRCm39) |
I117L |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,370,024 (GRCm39) |
T364A |
possibly damaging |
Het |
| Zbtb47 |
C |
T |
9: 121,596,660 (GRCm39) |
P672L |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,682,449 (GRCm39) |
T339K |
probably damaging |
Het |
| Zfp317 |
A |
G |
9: 19,559,031 (GRCm39) |
D415G |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,923,686 (GRCm39) |
H636R |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGACCATGCTGGCAATG -3'
(R):5'- ATGTATAGAAAACACATGCACATGG -3'
Sequencing Primer
(F):5'- CCATGCTGGCAATGTAAAATGGC -3'
(R):5'- GCAGGCAGATTTCTATGAGTTCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation