Incidental Mutation 'R5942:Ptx3'
ID 460331
Institutional Source Beutler Lab
Gene Symbol Ptx3
Ensembl Gene ENSMUSG00000027832
Gene Name pentraxin related gene
Synonyms TSG-14, pentraxin 3
MMRRC Submission 044134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R5942 (G1)
Quality Score 136
Status Not validated
Chromosome 3
Chromosomal Location 66127331-66133226 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to G at 66127484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
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 null
Transcript: ENSMUST00000029421
AA Change: M1R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029421
Gene: ENSMUSG00000027832
AA Change: M1R

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 96.7%
  • 20x: 89.5%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,333 (GRCm39) V860M probably benign Het
Accs A T 2: 93,666,392 (GRCm39) L432M probably damaging Het
Actrt3 T A 3: 30,652,813 (GRCm39) N94Y possibly damaging Het
Adamts18 T C 8: 114,504,380 (GRCm39) Q80R probably benign Het
Ccr8 G T 9: 119,923,772 (GRCm39) V296F probably damaging Het
Cep170 T A 1: 176,583,985 (GRCm39) E798V probably damaging Het
Cttnbp2 T A 6: 18,448,439 (GRCm39) E73D probably damaging Het
Cyp2a4 A T 7: 26,010,129 (GRCm39) probably null Het
Dync2h1 A T 9: 7,117,466 (GRCm39) Y41* probably null Het
Enc1 G A 13: 97,382,887 (GRCm39) D466N probably benign Het
Enpp1 C A 10: 24,551,966 (GRCm39) E138* probably null Het
Entrep1 A G 19: 23,963,834 (GRCm39) V245A probably damaging Het
Ezh2 T C 6: 47,554,516 (GRCm39) R27G possibly damaging Het
Fut10 A G 8: 31,691,485 (GRCm39) N110S possibly damaging Het
Glt1d1 A T 5: 127,721,534 (GRCm39) probably null Het
Gm14393 G A 2: 174,903,689 (GRCm39) Q73* probably null Het
Gpr156 C T 16: 37,825,264 (GRCm39) P494S probably benign Het
Has2 T A 15: 56,531,192 (GRCm39) K508* probably null Het
Hc A T 2: 34,918,137 (GRCm39) C715* probably null Het
Hook2 C T 8: 85,721,409 (GRCm39) probably null Het
Klhdc7b A C 15: 89,271,634 (GRCm39) I839L probably benign Het
Kndc1 T C 7: 139,516,792 (GRCm39) L1584P probably damaging Het
Lamp1 T C 8: 13,223,941 (GRCm39) F358L probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mga A G 2: 119,777,440 (GRCm39) I1871V probably benign Het
Mgmt T A 7: 136,723,219 (GRCm39) D96E probably benign Het
Morc2a C A 11: 3,629,936 (GRCm39) T424K probably damaging Het
Myo1g A G 11: 6,464,888 (GRCm39) L462P probably damaging Het
Ncaph C A 2: 126,958,608 (GRCm39) probably null Het
Nlrc3 A T 16: 3,767,293 (GRCm39) D969E probably damaging Het
Nt5c3 A T 6: 56,874,839 (GRCm39) probably null Het
Or4c12b G T 2: 89,646,684 (GRCm39) E5* probably null Het
Or5ac15 A T 16: 58,940,039 (GRCm39) Y131* probably null Het
Or5d41 A C 2: 88,054,916 (GRCm39) I153M probably benign Het
Or8h8 T C 2: 86,753,750 (GRCm39) N42S probably damaging Het
Parp14 C A 16: 35,659,737 (GRCm39) M1628I probably damaging Het
Parp8 G T 13: 117,005,969 (GRCm39) P693Q probably benign Het
Parp9 A G 16: 35,792,259 (GRCm39) D485G possibly damaging Het
Pcdha1 T A 18: 37,063,444 (GRCm39) V36D probably damaging Het
Pcdhb5 C T 18: 37,453,838 (GRCm39) Q73* probably null Het
Pecam1 G T 11: 106,552,809 (GRCm39) probably benign Het
Pex1 A G 5: 3,660,277 (GRCm39) I527V probably benign Het
Phf11 G A 14: 59,497,593 (GRCm39) P13S probably benign Het
Ppp4r4 T A 12: 103,553,706 (GRCm39) V388D possibly damaging Het
Psmc4 C T 7: 27,746,480 (GRCm39) V202I probably damaging Het
Rimbp3 A G 16: 17,029,752 (GRCm39) T1059A probably benign Het
Rmdn3 G A 2: 118,978,058 (GRCm39) A181V probably damaging Het
Rnase10 A T 14: 51,246,735 (GRCm39) M38L probably benign Het
Sec16b T A 1: 157,358,920 (GRCm39) Y118N probably damaging Het
Sigmar1 T C 4: 41,741,159 (GRCm39) T32A probably benign Het
Srcap A G 7: 127,137,180 (GRCm39) D954G probably damaging Het
Tfrc A G 16: 32,445,533 (GRCm39) N618S possibly damaging Het
Tnrc6a A G 7: 122,785,888 (GRCm39) D1028G probably damaging Het
Tns3 A T 11: 8,385,860 (GRCm39) D1379E probably damaging Het
Ttn A T 2: 76,580,505 (GRCm39) C23463S possibly damaging Het
Ufl1 T C 4: 25,250,619 (GRCm39) T745A probably benign Het
Vmn1r231 T A 17: 21,110,417 (GRCm39) Y166F possibly damaging Het
Wbp1l C A 19: 46,642,869 (GRCm39) T290K probably damaging Het
Wdr25 A G 12: 108,864,392 (GRCm39) N179S probably benign Het
Wdr62 G A 7: 29,942,504 (GRCm39) Q1035* probably null Het
Yif1a C T 19: 5,141,669 (GRCm39) R196C probably damaging Het
Zfp352 A T 4: 90,113,307 (GRCm39) K482N probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Ptx3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AACATTGTGCAACCTCTTCAGC -3'
(R):5'- TTAATTATGTTAATCGCGCCCC -3'

Sequencing Primer
(F):5'- CCAAATCCAGGGGAACTCC -3'
(R):5'- CCCCCAAAAAGTGAGTTATGTAG -3'
Posted On 2017-02-28