Incidental Mutation 'R0674:Ptx3'
ID 61557
Institutional Source Beutler Lab
Gene Symbol Ptx3
Ensembl Gene ENSMUSG00000027832
Gene Name pentraxin related gene
Synonyms TSG-14, pentraxin 3
MMRRC Submission 038859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R0674 (G1)
Quality Score 143
Status Validated
Chromosome 3
Chromosomal Location 66127331-66133226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66132148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 223 (I223N)
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

DomainStartEndE-ValueType
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: I223N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029421
Gene: ENSMUSG00000027832
AA Change: I223N

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 123 144 N/A INTRINSIC
PTX 175 381 5.82e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182521
Meta Mutation Damage Score 0.3758 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 90.4%
Validation Efficiency 97% (124/128)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar A G 3: 89,657,130 (GRCm39) probably benign Het
Adgrl2 A T 3: 148,543,315 (GRCm39) M803K possibly damaging Het
Atp13a5 T C 16: 29,067,102 (GRCm39) probably benign Het
Atp2a3 T C 11: 72,872,711 (GRCm39) I753T probably damaging Het
Bace2 G A 16: 97,237,949 (GRCm39) V467M possibly damaging Het
Bltp1 T A 3: 37,098,775 (GRCm39) V1134E possibly damaging Het
Ccser2 A G 14: 36,640,548 (GRCm39) C11R possibly damaging Het
Cd2ap T A 17: 43,156,283 (GRCm39) I85F possibly damaging Het
Cd2bp2 C T 7: 126,794,008 (GRCm39) E94K probably damaging Het
Chrna3 C A 9: 54,922,456 (GRCm39) A451S probably damaging Het
Cmya5 C A 13: 93,229,299 (GRCm39) V1930F probably damaging Het
Csmd1 T C 8: 16,050,550 (GRCm39) T2229A probably benign Het
Csrnp2 A T 15: 100,385,872 (GRCm39) L122H probably damaging Het
Cyp11b2 G A 15: 74,727,393 (GRCm39) P96L probably damaging Het
Ddr1 G T 17: 36,000,561 (GRCm39) S368* probably null Het
E2f1 T C 2: 154,406,029 (GRCm39) K115E probably damaging Het
Erlec1 A T 11: 30,885,073 (GRCm39) probably benign Het
Fus T A 7: 127,571,948 (GRCm39) probably benign Het
Gml G A 15: 74,685,709 (GRCm39) T92I probably damaging Het
Herc1 T C 9: 66,408,474 (GRCm39) S4567P probably damaging Het
Iglc2 A G 16: 19,017,591 (GRCm39) S5P probably benign Het
Itgam T C 7: 127,715,390 (GRCm39) V1028A possibly damaging Het
Krt222 T A 11: 99,127,086 (GRCm39) N178I probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Luzp1 C T 4: 136,270,768 (GRCm39) T997I possibly damaging Het
Maml1 G T 11: 50,148,885 (GRCm39) Q952K probably benign Het
Map2 A G 1: 66,452,361 (GRCm39) E499G probably damaging Het
Map4k4 A T 1: 40,042,975 (GRCm39) H118L probably damaging Het
Myzap T C 9: 71,422,426 (GRCm39) D382G probably damaging Het
Naip5 T C 13: 100,359,707 (GRCm39) T510A probably benign Het
Nek6 G C 2: 38,448,916 (GRCm39) G95R possibly damaging Het
Nphp3 T C 9: 103,913,481 (GRCm39) probably null Het
Nr1d2 T C 14: 18,215,086 (GRCm38) S309G probably benign Het
Nrcam A T 12: 44,611,105 (GRCm39) I570F probably benign Het
Oas1d T C 5: 121,058,049 (GRCm39) I331T probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4f14 A T 2: 111,743,018 (GRCm39) F86I probably benign Het
Or51b6 T C 7: 103,556,462 (GRCm39) V272A probably benign Het
Pex5l A T 3: 33,006,765 (GRCm39) W535R probably damaging Het
Pisd C T 5: 32,931,781 (GRCm39) R202H probably benign Het
Plxna2 A G 1: 194,331,783 (GRCm39) N403S probably benign Het
Prdm12 A G 2: 31,533,924 (GRCm39) I180M probably benign Het
Prpf6 A G 2: 181,273,767 (GRCm39) T304A probably benign Het
Ptprm G A 17: 67,498,336 (GRCm39) T35I possibly damaging Het
Pygb G A 2: 150,657,054 (GRCm39) probably null Het
Qrsl1 A G 10: 43,771,997 (GRCm39) probably benign Het
Rad51ap2 T C 12: 11,508,818 (GRCm39) probably null Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Rimbp3 T C 16: 17,030,601 (GRCm39) S1342P probably benign Het
Slc22a14 C A 9: 119,007,608 (GRCm39) R267L probably damaging Het
Slco6c1 T A 1: 97,032,498 (GRCm39) probably benign Het
Tcp1 T C 17: 13,142,131 (GRCm39) I375T probably damaging Het
Tiparp T C 3: 65,460,586 (GRCm39) I525T probably benign Het
Tjp2 A G 19: 24,108,680 (GRCm39) L144P probably benign Het
Tssk2 A G 16: 17,716,930 (GRCm39) D111G probably benign Het
Ttn T C 2: 76,775,823 (GRCm39) T1740A possibly damaging Het
Vmn2r102 T A 17: 19,898,129 (GRCm39) D381E probably benign Het
Vsig10 C T 5: 117,481,911 (GRCm39) T367M probably damaging Het
Wnt11 T C 7: 98,495,735 (GRCm39) C80R probably damaging Het
Zar1 T A 5: 72,737,643 (GRCm39) probably null Het
Zfp52 A T 17: 21,782,108 (GRCm39) H652L probably damaging Het
Zpr1 T A 9: 46,186,747 (GRCm39) L194Q probably damaging Het
Other mutations in Ptx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02877:Ptx3 APN 3 66,132,196 (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
R9046:Ptx3 UTSW 3 66,132,153 (GRCm39) missense probably damaging 0.99
Z1176:Ptx3 UTSW 3 66,128,256 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GAGGCCCCATGAGTCATAACACAG -3'
(R):5'- ATCTCTACAGTGGTAGCCACCAGC -3'

Sequencing Primer
(F):5'- CATGAGTCATAACACAGCAGTG -3'
(R):5'- TTGCCCACAGGGACATGC -3'
Posted On 2013-07-30