Incidental Mutation 'R6661:Prg2'
ID 526828
Institutional Source Beutler Lab
Gene Symbol Prg2
Ensembl Gene ENSMUSG00000027073
Gene Name proteoglycan 2, bone marrow
Synonyms mMBP, EMBP, mMBP-1
MMRRC Submission 044781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6661 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 84810805-84813976 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 84813620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028466] [ENSMUST00000028467] [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 null
Transcript: ENSMUST00000028467
SMART Domains Protein: ENSMUSP00000028467
Gene: ENSMUSG00000027073

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 43 76 N/A INTRINSIC
CLECT 90 222 1.99e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000028467
SMART Domains Protein: ENSMUSP00000028467
Gene: ENSMUSG00000027073

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9577 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.8%
Validation Efficiency 93% (38/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy2a1 T C 3: 113,325,363 (GRCm39) Y77C probably damaging Het
Ankrd9 C A 12: 110,944,202 (GRCm39) probably benign Het
Arhgap28 C A 17: 68,152,746 (GRCm39) W675L probably damaging Het
Arhgap44 A G 11: 64,900,834 (GRCm39) S595P probably damaging Het
Brd10 A T 19: 29,700,864 (GRCm39) H741Q possibly damaging Het
Cacna1d C A 14: 29,811,832 (GRCm39) D1273Y probably damaging Het
Ccr4 T C 9: 114,325,031 (GRCm39) probably benign Het
Celsr1 A G 15: 85,803,135 (GRCm39) V2468A probably damaging Het
Chd2 T C 7: 73,140,230 (GRCm39) E666G possibly damaging Het
Ctnnd1 C A 2: 84,439,986 (GRCm39) V775L probably damaging Het
Cux2 C A 5: 122,007,360 (GRCm39) R767L probably benign Het
Decr2 A G 17: 26,302,561 (GRCm39) L217S possibly damaging Het
Dennd4c T A 4: 86,717,626 (GRCm39) M541K possibly damaging Het
Dnah7a T C 1: 53,662,609 (GRCm39) R651G probably benign Het
Fbrsl1 A T 5: 110,525,963 (GRCm39) F80I probably damaging Het
Fmnl2 C A 2: 52,998,297 (GRCm39) P554Q probably damaging Het
Gapvd1 C T 2: 34,618,450 (GRCm39) D308N probably damaging Het
Gatb A G 3: 85,559,726 (GRCm39) probably null Het
Jcad G A 18: 4,675,256 (GRCm39) G1006D probably damaging Het
Krt1c A G 15: 101,724,398 (GRCm39) Y289H probably damaging Het
Lrrc52 A G 1: 167,293,922 (GRCm39) F121S probably damaging Het
Lrrc63 G A 14: 75,362,633 (GRCm39) T299I unknown Het
Magi1 T C 6: 93,920,289 (GRCm39) N109S probably benign Het
Mbd4 C A 6: 115,826,116 (GRCm39) E271* probably null Het
Meis2 T A 2: 115,694,751 (GRCm39) D457V probably damaging Het
Mroh8 A G 2: 157,067,547 (GRCm39) V604A probably benign Het
Nedd4 T A 9: 72,593,377 (GRCm39) V150E probably damaging Het
Nes A G 3: 87,884,243 (GRCm39) E790G probably damaging Het
Or8h8 T C 2: 86,753,492 (GRCm39) N128S probably benign Het
Pik3c2a T C 7: 115,967,993 (GRCm39) I834V possibly damaging Het
Plxnb1 T C 9: 108,933,367 (GRCm39) C666R possibly damaging Het
Selenbp2 A G 3: 94,609,821 (GRCm39) D257G probably damaging Het
Slf1 T C 13: 77,191,964 (GRCm39) R957G probably damaging Het
Smim10l1 T A 6: 133,082,513 (GRCm39) M46K possibly damaging Het
Sptbn5 T C 2: 119,902,856 (GRCm39) Y50C possibly damaging Het
Tcea1 A G 1: 4,928,652 (GRCm39) probably benign Het
Tex14 A G 11: 87,385,842 (GRCm39) E234G probably damaging Het
Tmbim4 T C 10: 120,060,556 (GRCm39) V181A probably benign Het
Trappc9 A G 15: 72,461,993 (GRCm39) S1091P possibly damaging Het
Txnrd3 T A 6: 89,631,134 (GRCm39) C143* probably null Het
Ushbp1 C T 8: 71,843,305 (GRCm39) C314Y unknown 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
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
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'- CCCAGTATCCATCATGGTCCTG -3'
(R):5'- AATAGGAGAGCTTCAGCCCC -3'

Sequencing Primer
(F):5'- ATCCATCATGGTCCTGTGGTCAAG -3'
(R):5'- GAGAGCTTCAGCCCCTTGTCTG -3'
Posted On 2018-07-23