Mutagenetix > Incidental Mutation

Incidental Mutation 'R0346:Ptafr'

34251

Institutional Source

Beutler Lab

Gene Symbol

Ptafr

Ensembl Gene

ENSMUSG00000056529

Gene Name

platelet-activating factor receptor

Synonyms

PAF receptor, PAFR

MMRRC Submission

038553-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132291378-132309994 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 132307390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 260 (L260*)

Ref Sequence

ENSEMBL: ENSMUSP00000070925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070690]

AlphaFold

Q62035

Predicted Effect

probably null
Transcript: ENSMUST00000070690
AA Change: L260*

SMART Domains

Protein: ENSMUSP00000070925
Gene: ENSMUSG00000056529
AA Change: L260*

Domain	Start	End	E-Value	Type
Pfam:7tm_1	32	292	1.4e-40	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: This gene encodes a member of the G-protein coupled receptor 1 family of proteins. Binding of the encoded protein to its phospholipid ligand, platelet-activating factor (PAF), may regulate the inflammatory response and the perception of pain. Homozygous knockout mice for this gene exhibit impaired anaphylactic response, resistance to bacterial infection, and reduced pain-related behavior. [provided by RefSeq, Aug 2015]
PHENOTYPE: Inactivation of this locus affects the immune response. Homozygotes have a marked reduction in systemic anaphylactic symptoms but are otherwise healthy. Further studies showed delayed elimination of parasites, and resistance to pneumonococcal pneumonia infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,516,278 (GRCm39)	I4406L	probably damaging	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Add3	C	T	19: 53,205,387 (GRCm39)	R46*	probably null	Het
Alas1	A	T	9: 106,120,550 (GRCm39)	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,429,567 (GRCm39)	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,582,479 (GRCm39)	R365*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
AU021092	T	C	16: 5,034,718 (GRCm39)	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Caln1	C	A	5: 130,851,762 (GRCm39)	H184N	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,759,315 (GRCm39)	V372A	probably damaging	Het
Ccng2	T	G	5: 93,418,753 (GRCm39)	I126S	probably damaging	Het
Cep85	A	T	4: 133,859,733 (GRCm39)	N643K	probably damaging	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,129,968 (GRCm39)		probably benign	Het
Cttn	A	T	7: 144,006,276 (GRCm39)		probably benign	Het
Dedd2	T	C	7: 24,910,694 (GRCm39)	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,153,132 (GRCm39)	D263G	probably damaging	Het
Dppa4	T	A	16: 48,109,687 (GRCm39)		probably benign	Het
Ear2	A	G	14: 44,340,363 (GRCm39)	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,345,452 (GRCm39)		probably benign	Het
Etl4	G	T	2: 20,764,463 (GRCm39)		probably null	Het
Fbxo15	T	A	18: 84,978,346 (GRCm39)		probably null	Het
Gm9970	A	G	5: 31,398,182 (GRCm39)		probably benign	Het
Hap1	A	G	11: 100,246,855 (GRCm39)	S17P	probably benign	Het
Hgd	C	T	16: 37,409,136 (GRCm39)		probably benign	Het
Ift56	T	C	6: 38,386,370 (GRCm39)	C364R	probably damaging	Het
Inpp5f	T	A	7: 128,292,392 (GRCm39)	L16Q	probably damaging	Het
Irag1	T	C	7: 110,498,183 (GRCm39)	D404G	probably damaging	Het
Islr2	G	A	9: 58,105,626 (GRCm39)	R545*	probably null	Het
Itgav	G	T	2: 83,622,953 (GRCm39)	C675F	probably damaging	Het
Kif13a	T	A	13: 46,967,695 (GRCm39)	I403L	possibly damaging	Het
Kif14	T	A	1: 136,395,898 (GRCm39)	I68N	probably damaging	Het
Kif26a	G	T	12: 112,145,782 (GRCm39)	K1764N	probably null	Het
Lrrd1	C	A	5: 3,900,215 (GRCm39)	F173L	probably benign	Het
Mroh4	G	C	15: 74,486,141 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,248,864 (GRCm39)	V723A	probably benign	Het
Mybph	T	G	1: 134,125,492 (GRCm39)	I279S	probably damaging	Het
Myh4	A	T	11: 67,151,152 (GRCm39)	I1936L	probably benign	Het
Myo1h	A	T	5: 114,493,270 (GRCm39)	T704S	probably benign	Het
Nav2	C	A	7: 49,254,333 (GRCm39)	T2377K	probably benign	Het
Nipbl	T	G	15: 8,390,440 (GRCm39)	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 19,758,440 (GRCm39)	L559P	probably damaging	Het
Nup210l	T	A	3: 90,096,745 (GRCm39)	V1318E	probably damaging	Het
Or1e26	A	G	11: 73,480,283 (GRCm39)	Y94H	probably damaging	Het
Or4z4	A	T	19: 12,076,803 (GRCm39)	S67T	probably damaging	Het
Or6c8b	C	A	10: 128,882,342 (GRCm39)	V197F	possibly damaging	Het
Or7e178	A	G	9: 20,225,707 (GRCm39)	S170P	probably benign	Het
P2ry13	T	C	3: 59,116,987 (GRCm39)	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,198,710 (GRCm39)	L966P	probably benign	Het
Prss35	A	G	9: 86,637,404 (GRCm39)	K58R	probably benign	Het
Pum1	A	T	4: 130,507,116 (GRCm39)	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf145	A	G	11: 44,445,991 (GRCm39)	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,346,554 (GRCm39)	K218N	possibly damaging	Het
Rps6	T	C	4: 86,774,218 (GRCm39)	T128A	probably benign	Het
Ryr1	G	T	7: 28,767,013 (GRCm39)		probably benign	Het
Scel	A	T	14: 103,767,420 (GRCm39)	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,847,111 (GRCm39)	D57E	probably benign	Het
Slc35d1	A	C	4: 103,048,044 (GRCm39)	L240R	probably damaging	Het
Smcr8	A	G	11: 60,670,576 (GRCm39)	I575V	probably benign	Het
Spata31e4	T	C	13: 50,857,346 (GRCm39)	Y995H	probably benign	Het
Syk	G	A	13: 52,794,695 (GRCm39)	M476I	probably damaging	Het
Tbcel	A	T	9: 42,348,539 (GRCm39)		probably benign	Het
Tob2	C	A	15: 81,742,424 (GRCm39)	G65W	probably damaging	Het
Trim16	A	G	11: 62,731,520 (GRCm39)	N464D	probably benign	Het
Trim36	T	C	18: 46,332,776 (GRCm39)		probably benign	Het
Trpv4	C	A	5: 114,768,590 (GRCm39)		probably benign	Het
Tsga10	T	A	1: 37,879,600 (GRCm39)	T64S	possibly damaging	Het
Vars2	A	T	17: 35,975,756 (GRCm39)		probably benign	Het
Vmn1r72	C	A	7: 11,403,621 (GRCm39)	V276L	probably benign	Het
Vps13a	T	A	19: 16,655,333 (GRCm39)	K1898N	probably benign	Het
Vps18	A	G	2: 119,127,645 (GRCm39)	M823V	probably damaging	Het
Washc2	T	C	6: 116,197,484 (GRCm39)		probably benign	Het
Zfp763	A	T	17: 33,238,721 (GRCm39)	H141Q	probably benign	Het

Other mutations in Ptafr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00707:Ptafr	APN	4	132,307,569 (GRCm39)	missense	probably benign	0.01
IGL02643:Ptafr	APN	4	132,307,437 (GRCm39)	missense	probably benign	0.28
R0035:Ptafr	UTSW	4	132,306,864 (GRCm39)	missense	probably benign	0.15
R0035:Ptafr	UTSW	4	132,306,864 (GRCm39)	missense	probably benign	0.15
R0455:Ptafr	UTSW	4	132,307,396 (GRCm39)	missense	probably benign	0.00
R1982:Ptafr	UTSW	4	132,307,296 (GRCm39)	missense	probably damaging	0.99
R2228:Ptafr	UTSW	4	132,306,691 (GRCm39)	missense	possibly damaging	0.79
R4051:Ptafr	UTSW	4	132,307,305 (GRCm39)	missense	probably benign	0.23
R5499:Ptafr	UTSW	4	132,306,646 (GRCm39)	missense	probably damaging	0.98
R5979:Ptafr	UTSW	4	132,306,616 (GRCm39)	missense	probably benign	0.03
R6755:Ptafr	UTSW	4	132,306,657 (GRCm39)	missense	probably benign	0.09
R7577:Ptafr	UTSW	4	132,307,063 (GRCm39)	missense	probably damaging	1.00
R9228:Ptafr	UTSW	4	132,306,613 (GRCm39)	start codon destroyed	probably null	0.98
Z1176:Ptafr	UTSW	4	132,307,273 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGAGCCATACAGTGTGCCCATCC -3'
(R):5'- CCGTCTGTGAGGTCCATTGAAGAG -3'

Sequencing Primer
(F):5'- tcttcatcgccttctgcttc -3'
(R):5'- TTTCAGCGACACAATAGGAGTCTG -3'

Posted On

2013-05-09