Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Fpr1'

297926

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) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

18096733-18104201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18096915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 358 (E358V)

Ref Sequence

ENSEMBL: ENSMUSP00000052894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061516]

AlphaFold

P33766

Predicted Effect

probably benign
Transcript: ENSMUST00000061516
AA Change: E358V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052894
Gene: ENSMUSG00000045551
AA Change: E358V

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,654,686 (GRCm39)	A545V	probably damaging	Het
Adam29	A	T	8: 56,325,902 (GRCm39)	L184*	probably null	Het
Ap1g1	C	T	8: 110,576,254 (GRCm39)	A432V	probably damaging	Het
Atrn	C	T	2: 130,814,202 (GRCm39)	T716I	probably damaging	Het
Bahd1	C	A	2: 118,747,526 (GRCm39)	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,603,391 (GRCm39)	V256A	probably benign	Het
Camta2	A	G	11: 70,561,511 (GRCm39)	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,485,901 (GRCm39)	T38K	probably benign	Het
Cmtm3	T	C	8: 105,071,437 (GRCm39)	L111P	probably damaging	Het
Col27a1	T	C	4: 63,236,492 (GRCm39)		probably benign	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Flt1	C	A	5: 147,576,058 (GRCm39)	R650L	probably benign	Het
Ggnbp2	A	T	11: 84,753,112 (GRCm39)	N42K	possibly damaging	Het
Gldc	T	C	19: 30,077,299 (GRCm39)	T958A	probably benign	Het
Gm3573	A	G	14: 42,009,452 (GRCm39)		probably null	Het
Hspbp1	T	C	7: 4,684,840 (GRCm39)		probably benign	Het
Jhy	G	T	9: 40,828,471 (GRCm39)	Y478*	probably null	Het
Kiz	A	G	2: 146,712,690 (GRCm39)	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,300,492 (GRCm39)	Y144C	probably benign	Het
Lamc3	A	T	2: 31,810,674 (GRCm39)	Y848F	probably benign	Het
Mixl1	T	C	1: 180,522,269 (GRCm39)	E204G	probably benign	Het
Muc2	T	A	7: 141,305,594 (GRCm39)	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,741,113 (GRCm39)	S282G	probably damaging	Het
Or2j6	T	A	7: 139,980,575 (GRCm39)	Y128F	probably damaging	Het
Or5b111	T	C	19: 13,291,302 (GRCm39)	M116V	probably damaging	Het
Or5k8	C	A	16: 58,644,691 (GRCm39)	C127F	probably benign	Het
Orc2	A	T	1: 58,505,281 (GRCm39)		probably benign	Het
Pcdhb10	T	C	18: 37,545,743 (GRCm39)	I273T	probably benign	Het
Pdzph1	G	A	17: 59,280,386 (GRCm39)	T632I	probably benign	Het
Phf1	A	G	17: 27,154,600 (GRCm39)	Y225C	probably damaging	Het
Pramel17	T	A	4: 101,692,770 (GRCm39)	Y410F	probably damaging	Het
Prcp	T	C	7: 92,550,382 (GRCm39)	F60L	probably damaging	Het
Psg21	C	T	7: 18,388,961 (GRCm39)	V44I	possibly damaging	Het
Ptgdr	C	T	14: 45,096,071 (GRCm39)	V214M	probably damaging	Het
Pth1r	G	A	9: 110,556,748 (GRCm39)	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,286,585 (GRCm39)	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,204 (GRCm39)	Q128*	probably null	Het
Rrbp1	T	C	2: 143,791,679 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,588,273 (GRCm39)	M726L	unknown	Het
Slc6a18	T	C	13: 73,818,114 (GRCm39)	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,250,930 (GRCm39)		probably benign	Het
Tacr3	C	A	3: 134,535,232 (GRCm39)	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,443,640 (GRCm39)	K534*	probably null	Het
Timp3	T	A	10: 86,174,315 (GRCm39)	M67K	probably benign	Het
Tmem120a	C	T	5: 135,765,628 (GRCm39)	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,049,216 (GRCm39)		probably benign	Het
Tubal3	A	G	13: 3,980,554 (GRCm39)	R89G	probably benign	Het
Wdr35	A	T	12: 9,074,297 (GRCm39)	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416 (GRCm39)	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,261,953 (GRCm39)	H628L	unknown	Het
Zmynd8	A	G	2: 165,675,325 (GRCm39)	V301A	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
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

2015-04-16