Mutagenetix > Incidental Mutation

Incidental Mutation 'R9046:Ptx3'

688034

Institutional Source

Beutler Lab

Gene Symbol

Ptx3

Ensembl Gene

ENSMUSG00000027832

Gene Name

pentraxin related gene

Synonyms

TSG-14, pentraxin 3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R9046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66127331-66133226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66132153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 225 (F225L)

Ref Sequence

ENSEMBL: ENSMUSP00000029421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029419] [ENSMUST00000029421]

AlphaFold

P48759

Predicted Effect

probably benign
Transcript: ENSMUST00000029419

SMART Domains

Protein: ENSMUSP00000029419
Gene: ENSMUSG00000027831

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
Blast:PH	586	626	1e-5	BLAST
PH	717	821	1.44e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000029421
AA Change: F225L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029421
Gene: ENSMUSG00000027832
AA Change: F225L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	123	144	N/A	INTRINSIC
PTX	175	381	5.82e-89	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutant mice display female subfertility due to abnormalities of the cumulus oophorus and are susceptible to invasive pulmonary aspergillosis associated with defective recognition of conidia by alveolar macrophages and dendritic cells and impaired induction of adaptive type 2 responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,525 (GRCm39)	V1796A	probably benign	Het
Abca3	A	G	17: 24,617,477 (GRCm39)	D1058G	probably damaging	Het
Adgrg6	A	G	10: 14,323,858 (GRCm39)	V431A	probably benign	Het
Amdhd1	C	T	10: 93,363,087 (GRCm39)	D334N	probably damaging	Het
Ankrd50	A	T	3: 38,506,642 (GRCm39)	M252K	probably benign	Het
Anxa3	G	A	5: 96,976,626 (GRCm39)	R204Q	probably damaging	Het
Apmap	T	C	2: 150,426,093 (GRCm39)	T352A	probably benign	Het
Arhgef4	A	G	1: 34,850,846 (GRCm39)	E464G	possibly damaging	Het
Atp11b	T	A	3: 35,852,740 (GRCm39)		probably benign	Het
Brwd1	T	A	16: 95,829,402 (GRCm39)	S1100C	probably damaging	Het
Ccm2l	T	A	2: 152,916,720 (GRCm39)	I317N	probably damaging	Het
Ccr9	C	T	9: 123,608,831 (GRCm39)	T171I	probably benign	Het
Cdh23	A	T	10: 60,218,303 (GRCm39)		probably benign	Het
Dact1	A	G	12: 71,365,534 (GRCm39)	I735V	probably benign	Het
Dok6	C	A	18: 89,787,221 (GRCm39)	V14L	probably benign	Het
Dthd1	A	T	5: 62,984,603 (GRCm39)	Y436F	possibly damaging	Het
Fndc9	G	T	11: 46,128,889 (GRCm39)	W136L	probably damaging	Het
Gal3st1	G	A	11: 3,948,278 (GRCm39)	V162I	probably benign	Het
Gart	A	G	16: 91,418,561 (GRCm39)	S973P	probably damaging	Het
H2-T5	A	T	17: 36,476,035 (GRCm39)		probably null	Het
Hsp90ab1	G	A	17: 45,879,969 (GRCm39)	P516S	probably damaging	Het
Htr1a	G	C	13: 105,581,816 (GRCm39)	G352A	probably damaging	Het
Hycc2	T	C	1: 58,568,945 (GRCm39)	T545A	probably damaging	Het
Isg20	A	T	7: 78,569,823 (GRCm39)	R265*	probably null	Het
Kcmf1	C	T	6: 72,825,455 (GRCm39)	A213T	probably damaging	Het
Kdm3a	A	G	6: 71,572,540 (GRCm39)	V1007A	probably damaging	Het
Klhl25	A	G	7: 75,515,337 (GRCm39)	E81G	probably damaging	Het
Klhl6	C	A	16: 19,765,803 (GRCm39)	V600F	probably damaging	Het
Kmt2b	A	G	7: 30,285,479 (GRCm39)	V471A	probably benign	Het
Lap3	A	G	5: 45,652,562 (GRCm39)	T53A	probably damaging	Het
Lmntd1	A	T	6: 145,365,565 (GRCm39)	I188N	probably damaging	Het
Lrba	A	G	3: 86,302,543 (GRCm39)	I1868V	possibly damaging	Het
Mef2d	A	T	3: 88,074,825 (GRCm39)	Y337F	probably benign	Het
Mgat4e	T	C	1: 134,474,742 (GRCm39)	T7A	possibly damaging	Het
Myo3a	G	T	2: 22,448,367 (GRCm39)	L985F	probably damaging	Het
Myof	T	C	19: 37,923,112 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,376,145 (GRCm39)	G77S	probably benign	Het
Nostrin	G	T	2: 68,975,123 (GRCm39)	V13L	probably benign	Het
Nup155	TGGG	TGG	15: 8,157,919 (GRCm39)		probably null	Het
Or14j6	A	G	17: 38,215,145 (GRCm39)	K236R	probably damaging	Het
Or3a10	T	C	11: 73,935,284 (GRCm39)	D272G	probably damaging	Het
Or4a75	C	T	2: 89,448,496 (GRCm39)		probably benign	Het
Or5b101	T	C	19: 13,005,115 (GRCm39)	N193D	probably benign	Het
Parp4	A	C	14: 56,864,927 (GRCm39)	K1025T	probably damaging	Het
Parvb	T	C	15: 84,174,639 (GRCm39)	I144T	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf10	A	G	17: 15,175,160 (GRCm39)	V195A	probably damaging	Het
Prpf18	A	T	2: 4,640,464 (GRCm39)	M257K	possibly damaging	Het
Ptcd3	A	T	6: 71,870,364 (GRCm39)		probably null	Het
Ptprt	G	A	2: 161,372,361 (GRCm39)	T1437M	possibly damaging	Het
Rpl3l	A	G	17: 24,947,435 (GRCm39)	K50E	probably damaging	Het
Rubcn	T	C	16: 32,661,940 (GRCm39)	N427D	probably benign	Het
Serpinb8	G	A	1: 107,530,563 (GRCm39)	A114T	possibly damaging	Het
Sgsm1	A	G	5: 113,436,725 (GRCm39)	V35A	probably damaging	Het
Slc22a2	G	A	17: 12,834,234 (GRCm39)	A501T	probably null	Het
Slu7	G	A	11: 43,335,629 (GRCm39)	C455Y	probably damaging	Het
Src	C	A	2: 157,307,795 (GRCm39)	H235N	probably damaging	Het
Svopl	T	A	6: 37,998,531 (GRCm39)	M248L	probably benign	Het
Tbx6	G	A	7: 126,381,120 (GRCm39)		probably null	Het
Tprg1l	A	T	4: 154,242,913 (GRCm39)	I239N	probably damaging	Het
Trafd1	A	G	5: 121,513,189 (GRCm39)	F350L	probably benign	Het
Trpv3	A	G	11: 73,176,698 (GRCm39)	Y359C	probably damaging	Het
Vmn1r46	T	C	6: 89,953,585 (GRCm39)	S145P	probably damaging	Het
Vmn2r11	A	T	5: 109,202,850 (GRCm39)	F76I	probably benign	Het
Xpot	A	T	10: 121,432,149 (GRCm39)	C916*	probably null	Het
Zfp236	C	T	18: 82,637,042 (GRCm39)	E1415K	possibly damaging	Het

Other mutations in Ptx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02877:Ptx3	APN	3	66,132,196 (GRCm39)	missense	probably damaging	1.00
R0674:Ptx3	UTSW	3	66,132,148 (GRCm39)	missense	probably damaging	1.00
R1966:Ptx3	UTSW	3	66,132,042 (GRCm39)	missense	probably damaging	1.00
R2114:Ptx3	UTSW	3	66,132,187 (GRCm39)	missense	probably damaging	1.00
R2116:Ptx3	UTSW	3	66,132,187 (GRCm39)	missense	probably damaging	1.00
R3717:Ptx3	UTSW	3	66,132,376 (GRCm39)	missense	probably benign	0.01
R4222:Ptx3	UTSW	3	66,132,127 (GRCm39)	missense	probably damaging	1.00
R4898:Ptx3	UTSW	3	66,132,412 (GRCm39)	missense	probably damaging	1.00
R5426:Ptx3	UTSW	3	66,128,143 (GRCm39)	missense	probably damaging	0.99
R5942:Ptx3	UTSW	3	66,127,484 (GRCm39)	start codon destroyed	probably null	1.00
R6061:Ptx3	UTSW	3	66,132,130 (GRCm39)	missense	possibly damaging	0.95
R6216:Ptx3	UTSW	3	66,132,265 (GRCm39)	missense	probably damaging	1.00
R7165:Ptx3	UTSW	3	66,132,391 (GRCm39)	missense	probably benign	0.03
R7253:Ptx3	UTSW	3	66,132,368 (GRCm39)	missense	probably benign	0.03
R8411:Ptx3	UTSW	3	66,132,201 (GRCm39)	missense	probably benign	0.14
R8458:Ptx3	UTSW	3	66,128,419 (GRCm39)	missense	probably benign	0.02
R8958:Ptx3	UTSW	3	66,128,391 (GRCm39)	missense	probably benign	0.11
Z1176:Ptx3	UTSW	3	66,128,256 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTGGAACTGAAATCCACCC -3'
(R):5'- TGGCCATCTCTACAGTGGTAG -3'

Sequencing Primer
(F):5'- CCCCTTGTATTCTCTTGCTACTCCAG -3'
(R):5'- TCCCCGTTTGCCCACAGG -3'

Posted On

2021-11-19