Incidental Mutation 'R0114:Prg2'
ID 20621
Institutional Source Beutler Lab
Gene Symbol Prg2
Ensembl Gene ENSMUSG00000027073
Gene Name proteoglycan 2, bone marrow
Synonyms mMBP, mMBP-1
MMRRC Submission 038400-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0114 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84980461-84983632 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 84983456 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028466] [ENSMUST00000028467]
AlphaFold Q61878
Predicted Effect probably benign
Transcript: ENSMUST00000028466
SMART Domains Protein: ENSMUSP00000028466
Gene: ENSMUSG00000027072

signal peptide 1 17 N/A INTRINSIC
CLECT 90 221 2.29e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028467
SMART Domains Protein: ENSMUSP00000028467
Gene: ENSMUSG00000027073

signal peptide 1 16 N/A INTRINSIC
low complexity region 43 76 N/A INTRINSIC
CLECT 90 222 1.99e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135939
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 79.2%
Validation Efficiency 100% (99/99)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype although fine structure changes occur in eosinophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,985,982 (GRCm38) probably benign Het
4933427D14Rik T C 11: 72,195,799 (GRCm38) Y262C probably damaging Het
Adamts1 C A 16: 85,799,614 (GRCm38) V379L probably benign Het
Akt3 T C 1: 177,067,251 (GRCm38) D260G probably damaging Het
Alms1 T C 6: 85,619,803 (GRCm38) L537P probably benign Het
Anln A T 9: 22,353,346 (GRCm38) I876N probably damaging Het
Ano9 A T 7: 141,103,239 (GRCm38) probably benign Het
Arhgef10l T C 4: 140,583,883 (GRCm38) E218G probably benign Het
Arnt2 G A 7: 84,347,530 (GRCm38) R63C probably damaging Het
Atp9a G T 2: 168,710,856 (GRCm38) Y63* probably null Het
Bmpr2 G T 1: 59,815,340 (GRCm38) C116F probably damaging Het
Cand1 T C 10: 119,216,522 (GRCm38) D233G probably benign Het
Cftr A T 6: 18,282,448 (GRCm38) H1049L probably damaging Het
Ckap5 A T 2: 91,620,112 (GRCm38) D1975V possibly damaging Het
Cyp26c1 T C 19: 37,686,633 (GRCm38) V134A probably benign Het
Dnaic1 T C 4: 41,605,686 (GRCm38) probably benign Het
Dpp10 T C 1: 123,486,092 (GRCm38) I163V probably benign Het
Fam151a A T 4: 106,734,004 (GRCm38) I15F possibly damaging Het
Fanca A T 8: 123,288,491 (GRCm38) probably null Het
Fes A G 7: 80,378,035 (GRCm38) V787A probably damaging Het
Fnip1 C T 11: 54,487,801 (GRCm38) probably benign Het
Gabpb1 A G 2: 126,653,574 (GRCm38) I86T probably damaging Het
Gm1840 A G 8: 5,640,359 (GRCm38) noncoding transcript Het
Gmds A T 13: 32,227,281 (GRCm38) S57T probably benign Het
Gnpat T G 8: 124,883,357 (GRCm38) D426E probably benign Het
Gnptab C A 10: 88,433,400 (GRCm38) P655Q possibly damaging Het
Herc1 T A 9: 66,461,846 (GRCm38) F2941I probably damaging Het
Herc2 T C 7: 56,153,774 (GRCm38) probably benign Het
Ino80 G A 2: 119,382,960 (GRCm38) R1249C probably damaging Het
Itga11 T C 9: 62,760,302 (GRCm38) V639A possibly damaging Het
Itga11 T G 9: 62,735,293 (GRCm38) V166G probably damaging Het
Itpr2 A G 6: 146,312,879 (GRCm38) F1490S probably damaging Het
Lama2 C A 10: 26,993,068 (GRCm38) E802* probably null Het
Lgi3 C T 14: 70,531,029 (GRCm38) probably benign Het
Limch1 C T 5: 67,036,084 (GRCm38) probably benign Het
Lipc T C 9: 70,803,781 (GRCm38) N363S probably damaging Het
Lrit2 A G 14: 37,068,045 (GRCm38) probably null Het
Mfsd13a C T 19: 46,366,504 (GRCm38) T40I probably benign Het
Mug2 A G 6: 122,040,648 (GRCm38) Y448C probably damaging Het
Mybpc3 A G 2: 91,124,494 (GRCm38) E450G probably damaging Het
Myo5b A T 18: 74,742,171 (GRCm38) T1549S probably benign Het
Naa15 T C 3: 51,448,438 (GRCm38) probably null Het
Nckap1l T A 15: 103,455,028 (GRCm38) C54S probably benign Het
Nlrp9b A G 7: 20,024,056 (GRCm38) D406G probably benign Het
Nprl3 T A 11: 32,239,784 (GRCm38) probably benign Het
Nvl A G 1: 181,120,391 (GRCm38) V429A probably benign Het
Olfr114 A T 17: 37,589,415 (GRCm38) *313K probably null Het
Olfr54 G A 11: 51,027,604 (GRCm38) V201I probably benign Het
Olfr548-ps1 A T 7: 102,542,731 (GRCm38) Q265L probably benign Het
Olfr801 T A 10: 129,669,598 (GRCm38) Y307F probably benign Het
Opa1 A T 16: 29,629,635 (GRCm38) N912Y probably benign Het
Pcnx T C 12: 81,996,095 (GRCm38) V2317A possibly damaging Het
Phf3 A T 1: 30,805,443 (GRCm38) N1478K possibly damaging Het
Phykpl G A 11: 51,586,653 (GRCm38) D91N probably benign Het
Polr2b T A 5: 77,343,263 (GRCm38) C984S probably damaging Het
Ppfibp1 A G 6: 146,998,233 (GRCm38) R141G probably benign Het
Ppm1d G A 11: 85,326,905 (GRCm38) G20R probably damaging Het
Ppp1r16a C T 15: 76,690,799 (GRCm38) probably benign Het
Ppp2r5b C A 19: 6,228,431 (GRCm38) V483F probably benign Het
Ppp4r4 T A 12: 103,576,374 (GRCm38) C132S probably benign Het
Prpf4b G A 13: 34,890,488 (GRCm38) probably benign Het
Rad54l2 T C 9: 106,713,455 (GRCm38) T491A probably damaging Het
Rnf213 G T 11: 119,414,587 (GRCm38) W548L probably damaging Het
Rusc2 G T 4: 43,422,055 (GRCm38) C825F probably damaging Het
Sema4b A G 7: 80,219,078 (GRCm38) probably benign Het
Sema6a A G 18: 47,290,177 (GRCm38) V254A probably damaging Het
Slc13a3 A G 2: 165,424,581 (GRCm38) F346L probably damaging Het
Slc25a17 T C 15: 81,337,959 (GRCm38) D104G probably damaging Het
Specc1 A T 11: 62,146,313 (GRCm38) N707Y possibly damaging Het
Tex48 T A 4: 63,608,459 (GRCm38) E76V probably damaging Het
Tfr2 T C 5: 137,577,465 (GRCm38) V281A probably benign Het
Tgfb1i1 A C 7: 128,249,494 (GRCm38) Q238H probably damaging Het
Thoc6 G A 17: 23,670,239 (GRCm38) T122I probably benign Het
Tmtc1 G A 6: 148,412,830 (GRCm38) probably benign Het
Tnfrsf8 T C 4: 145,288,047 (GRCm38) D264G possibly damaging Het
Trim43a T A 9: 88,584,160 (GRCm38) I178N probably damaging Het
Ttn G C 2: 76,707,093 (GRCm38) I26503M possibly damaging Het
Usp28 C A 9: 49,039,023 (GRCm38) D589E probably benign Het
Utp23 T C 15: 51,882,511 (GRCm38) S242P probably damaging Het
Vwa3a A G 7: 120,775,380 (GRCm38) Y305C probably benign Het
Vwa5b1 C A 4: 138,608,858 (GRCm38) E142* probably null Het
Xrn2 A T 2: 147,029,779 (GRCm38) T374S probably damaging Het
Zfp735 A T 11: 73,710,662 (GRCm38) Q144L probably benign Het
Other mutations in Prg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02714:Prg2 APN 2 84,983,505 (GRCm38) missense probably damaging 1.00
R0972:Prg2 UTSW 2 84,982,049 (GRCm38) missense probably benign 0.00
R2029:Prg2 UTSW 2 84,981,998 (GRCm38) splice site probably benign
R5000:Prg2 UTSW 2 84,982,023 (GRCm38) missense probably benign 0.33
R6661:Prg2 UTSW 2 84,983,276 (GRCm38) critical splice donor site probably null
R6919:Prg2 UTSW 2 84,983,256 (GRCm38) missense probably damaging 1.00
R6972:Prg2 UTSW 2 84,982,273 (GRCm38) missense probably benign 0.14
R8078:Prg2 UTSW 2 84,982,260 (GRCm38) missense probably benign 0.10
R8154:Prg2 UTSW 2 84,983,256 (GRCm38) missense probably damaging 1.00
R8794:Prg2 UTSW 2 84,982,060 (GRCm38) missense possibly damaging 0.51
R9497:Prg2 UTSW 2 84,981,341 (GRCm38) missense possibly damaging 0.91
Z1088:Prg2 UTSW 2 84,982,265 (GRCm38) missense possibly damaging 0.91
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-04-11