Incidental Mutation 'R6972:Prg2'
ID 542282
Institutional Source Beutler Lab
Gene Symbol Prg2
Ensembl Gene ENSMUSG00000027073
Gene Name proteoglycan 2, bone marrow
Synonyms mMBP, EMBP, mMBP-1
MMRRC Submission 045082-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6972 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 84810805-84813976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84812617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 109 (R109H)
Ref Sequence ENSEMBL: ENSMUSP00000028467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028467]
AlphaFold Q61878
Predicted Effect probably benign
Transcript: ENSMUST00000028467
AA Change: R109H

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028467
Gene: ENSMUSG00000027073
AA Change: R109H

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 43 76 N/A INTRINSIC
CLECT 90 222 1.99e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 A G 7: 79,003,775 (GRCm39) S285G probably benign Het
Afg1l T C 10: 42,354,370 (GRCm39) T10A probably benign Het
Akap9 A G 5: 4,096,699 (GRCm39) N2525D possibly damaging Het
B3gnt7 G A 1: 86,233,109 (GRCm39) M1I probably null Het
Bdp1 T C 13: 100,174,269 (GRCm39) E2089G probably null Het
Calcrl T G 2: 84,198,922 (GRCm39) I156L probably benign Het
Cd69 T C 6: 129,246,543 (GRCm39) S122G probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Ckap5 T A 2: 91,436,658 (GRCm39) I1586K probably damaging Het
Cyp4f14 C T 17: 33,124,483 (GRCm39) A523T probably benign Het
Dcaf1 T A 9: 106,723,971 (GRCm39) C466* probably null Het
Dcdc2a A T 13: 25,304,372 (GRCm39) probably benign Het
Eml5 T C 12: 98,842,439 (GRCm39) I220V probably benign Het
Etv2 T C 7: 30,334,167 (GRCm39) N189D probably benign Het
Fuz T C 7: 44,546,755 (GRCm39) probably benign Het
Git1 T G 11: 77,390,347 (GRCm39) V64G probably damaging Het
Gpr162 C T 6: 124,838,272 (GRCm39) R126H probably damaging Het
Grm5 T C 7: 87,252,131 (GRCm39) V127A probably benign Het
Iqsec1 T C 6: 90,653,750 (GRCm39) D665G probably damaging Het
Kcnh1 A G 1: 191,959,144 (GRCm39) I233V probably damaging Het
Lmcd1 C T 6: 112,287,659 (GRCm39) T115I probably damaging Het
Mybpc1 T C 10: 88,396,223 (GRCm39) E208G possibly damaging Het
Nfic C A 10: 81,256,191 (GRCm39) A158S probably benign Het
Nos3 A T 5: 24,585,241 (GRCm39) I798L probably benign Het
Ntrk1 A T 3: 87,691,288 (GRCm39) L292Q probably damaging Het
Or2ag16 A G 7: 106,351,906 (GRCm39) S230P possibly damaging Het
Orc4 T C 2: 48,817,196 (GRCm39) Q164R probably benign Het
Pcdhb14 T A 18: 37,582,745 (GRCm39) V617E probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plscr3 G A 11: 69,738,784 (GRCm39) E149K probably damaging Het
Pltp A G 2: 164,688,512 (GRCm39) probably null Het
Pramel11 A G 4: 143,623,472 (GRCm39) L234P probably damaging Het
Ptprj G A 2: 90,410,747 (GRCm39) S62F possibly damaging Het
Resf1 T A 6: 149,227,607 (GRCm39) Y218N probably damaging Het
Skint3 T A 4: 112,116,089 (GRCm39) S240T probably damaging Het
Smarca5 A G 8: 81,431,380 (GRCm39) Y946H probably damaging Het
Taf4b T C 18: 14,946,404 (GRCm39) V409A possibly damaging Het
Tafa2 A G 10: 123,540,278 (GRCm39) T45A probably benign Het
Trim29 T A 9: 43,238,409 (GRCm39) N504K probably benign Het
Vmn2r77 T C 7: 86,452,202 (GRCm39) Y461H probably damaging Het
Zeb2 T C 2: 44,887,330 (GRCm39) K531E probably damaging Het
Zfp687 A G 3: 94,916,688 (GRCm39) S813P possibly damaging Het
Other mutations in Prg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02714:Prg2 APN 2 84,813,849 (GRCm39) missense probably damaging 1.00
R0114:Prg2 UTSW 2 84,813,800 (GRCm39) splice site probably benign
R0972:Prg2 UTSW 2 84,812,393 (GRCm39) missense probably benign 0.00
R2029:Prg2 UTSW 2 84,812,342 (GRCm39) splice site probably benign
R5000:Prg2 UTSW 2 84,812,367 (GRCm39) missense probably benign 0.33
R6661:Prg2 UTSW 2 84,813,620 (GRCm39) critical splice donor site probably null
R6919:Prg2 UTSW 2 84,813,600 (GRCm39) missense probably damaging 1.00
R8078:Prg2 UTSW 2 84,812,604 (GRCm39) missense probably benign 0.10
R8154:Prg2 UTSW 2 84,813,600 (GRCm39) missense probably damaging 1.00
R8794:Prg2 UTSW 2 84,812,404 (GRCm39) missense possibly damaging 0.51
R9497:Prg2 UTSW 2 84,811,685 (GRCm39) missense possibly damaging 0.91
Z1088:Prg2 UTSW 2 84,812,609 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GAGAACTTGCCTAGGGATGCAG -3'
(R):5'- GCTACAGCCATTAGAAGACAGC -3'

Sequencing Primer
(F):5'- CTTGCCTAGGGATGCAGAGATATC -3'
(R):5'- TACAGCCATTAGAAGACAGCAGAGC -3'
Posted On 2018-11-28