Incidental Mutation 'R8154:Prg2'
ID 633181
Institutional Source Beutler Lab
Gene Symbol Prg2
Ensembl Gene ENSMUSG00000027073
Gene Name proteoglycan 2, bone marrow
Synonyms mMBP, EMBP, mMBP-1
MMRRC Submission 067580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8154 (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 84813600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 199 (V199M)
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

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CLECT 90 221 2.29e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000028467
AA Change: V199M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028467
Gene: ENSMUSG00000027073
AA Change: V199M

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 43 76 N/A INTRINSIC
CLECT 90 222 1.99e-19 SMART
Meta Mutation Damage Score 0.2841 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810037I17Rik G T 3: 122,718,142 (GRCm39) G12C probably damaging Het
Adam34l A T 8: 44,078,424 (GRCm39) I600N probably damaging Het
Adamts10 C A 17: 33,756,902 (GRCm39) P357T probably damaging Het
Bmyc T A 2: 25,597,346 (GRCm39) S137T probably damaging Het
Bpifa1 T A 2: 153,987,654 (GRCm39) M168K possibly damaging Het
Card11 T G 5: 140,886,732 (GRCm39) K339T probably damaging Het
Ccdc149 C T 5: 52,542,446 (GRCm39) probably null Het
Ccr9 T C 9: 123,608,896 (GRCm39) S193P probably benign Het
Cracd A T 5: 76,989,644 (GRCm39) E62D unknown Het
Csf2rb A G 15: 78,224,642 (GRCm39) probably null Het
Cux1 T C 5: 136,281,434 (GRCm39) E576G probably damaging Het
Cyp4a30b A G 4: 115,315,493 (GRCm39) N238S probably benign Het
Dnaja3 C A 16: 4,517,740 (GRCm39) T375K possibly damaging Het
Espnl C T 1: 91,252,921 (GRCm39) H217Y possibly damaging Het
Exoc4 T C 6: 33,887,473 (GRCm39) S754P probably benign Het
Fcgbp A G 7: 27,784,507 (GRCm39) D189G probably benign Het
Gle1 T A 2: 29,828,619 (GRCm39) probably null Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gtf2i A T 5: 134,280,721 (GRCm39) F583L probably benign Het
Heatr9 T A 11: 83,402,703 (GRCm39) Y532F possibly damaging Het
Hic2 C T 16: 17,076,344 (GRCm39) S391L probably benign Het
Hipk1 A G 3: 103,656,652 (GRCm39) V905A probably damaging Het
Inpp5f T G 7: 128,265,991 (GRCm39) W211G possibly damaging Het
Katnip T C 7: 125,412,802 (GRCm39) L382P probably damaging Het
Kcnma1 T A 14: 23,361,822 (GRCm39) Y1123F possibly damaging Het
Lamb2 C T 9: 108,357,845 (GRCm39) R123W probably damaging Het
Ldlrad4 C T 18: 68,387,293 (GRCm39) R202* probably null Het
Lmod3 T A 6: 97,224,941 (GRCm39) K293N probably damaging Het
Luzp1 T C 4: 136,269,195 (GRCm39) S473P possibly damaging Het
Lzic T A 4: 149,573,141 (GRCm39) F98I probably damaging Het
Map4k4 T G 1: 40,060,302 (GRCm39) Y1030* probably null Het
Miga1 A G 3: 152,026,337 (GRCm39) probably benign Het
Mrpl18 T C 17: 13,130,608 (GRCm39) E167G probably damaging Het
Myh4 A G 11: 67,144,200 (GRCm39) E1190G probably damaging Het
Ngef C T 1: 87,468,482 (GRCm39) M92I probably benign Het
Nlrc4 T A 17: 74,752,904 (GRCm39) Y493F probably damaging Het
Or52s19 A C 7: 103,007,763 (GRCm39) C213G probably benign Het
Otud7a C A 7: 63,407,612 (GRCm39) F638L probably benign Het
Padi2 T A 4: 140,651,620 (GRCm39) probably null Het
Pcdhgb1 A G 18: 37,815,596 (GRCm39) I696V probably damaging Het
Pikfyve T C 1: 65,304,948 (GRCm39) F1745S probably damaging Het
Prrc2b C T 2: 32,108,689 (GRCm39) A1637V probably benign Het
Rab3il1 A T 19: 10,004,936 (GRCm39) M57L possibly damaging Het
Rbl2 A G 8: 91,833,825 (GRCm39) D885G probably damaging Het
Rbm25 A G 12: 83,691,205 (GRCm39) M47V unknown Het
Rd3l T A 12: 111,946,638 (GRCm39) H46L probably benign Het
Scn5a C G 9: 119,391,611 (GRCm39) R27P possibly damaging Het
Set T A 2: 29,959,100 (GRCm39) V99D probably benign Het
Sh3tc1 T A 5: 35,875,696 (GRCm39) I138F probably damaging Het
Slf2 T A 19: 44,923,596 (GRCm39) S137T possibly damaging Het
Smg8 A T 11: 86,976,063 (GRCm39) M506K possibly damaging Het
Stpg2 G A 3: 139,014,938 (GRCm39) V368M probably damaging Het
Trav16d-dv11 T C 14: 53,284,999 (GRCm39) V25A probably damaging Het
Ttc6 A G 12: 57,776,210 (GRCm39) Y1718C probably damaging Het
Vrk1 A G 12: 106,036,793 (GRCm39) K360E probably benign Het
Xirp2 T A 2: 67,342,017 (GRCm39) H1419Q possibly damaging Het
Yes1 T C 5: 32,802,366 (GRCm39) F94L probably damaging Het
Zc2hc1c T C 12: 85,336,946 (GRCm39) L201P probably benign Het
Zfp638 C T 6: 83,954,391 (GRCm39) R1499W probably damaging Het
Znfx1 A T 2: 166,897,157 (GRCm39) L589Q probably 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
R6972:Prg2 UTSW 2 84,812,617 (GRCm39) missense probably benign 0.14
R8078:Prg2 UTSW 2 84,812,604 (GRCm39) missense probably benign 0.10
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'- CCCAGTATCCATCATGGTCCTG -3'
(R):5'- GGAATAGGAGAGCTTCAGCC -3'

Sequencing Primer
(F):5'- ATCCATCATGGTCCTGTGGTCAAG -3'
(R):5'- AATAGGAGAGCTTCAGCCCCTTG -3'
Posted On 2020-06-30