Incidental Mutation 'IGL02714:Prg2'
ID304679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prg2
Ensembl Gene ENSMUSG00000027073
Gene Nameproteoglycan 2, bone marrow
SynonymsmMBP, mMBP-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02714
Quality Score
Status
Chromosome2
Chromosomal Location84980461-84983632 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 84983505 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 220 (I220N)
Ref Sequence ENSEMBL: ENSMUSP00000028467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028466] [ENSMUST00000028467]
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: I220N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028467
Gene: ENSMUSG00000027073
AA Change: I220N

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
Coding Region Coverage
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcam T A 7: 19,758,807 probably benign Het
Bod1l T C 5: 41,816,339 D2544G probably benign Het
Cd86 T C 16: 36,620,928 D59G possibly damaging Het
Ckmt2 A G 13: 91,858,308 M306T possibly damaging Het
Dsc1 T C 18: 20,087,485 E744G probably damaging Het
Gpr139 T A 7: 119,145,119 D81V possibly damaging Het
Lsg1 T C 16: 30,585,550 probably null Het
Ly9 A G 1: 171,605,118 V109A possibly damaging Het
Mcm3ap T A 10: 76,511,033 S1806T probably benign Het
Met T A 6: 17,491,852 Y204* probably null Het
Olfr881 T A 9: 37,993,086 I198N possibly damaging Het
Ppp1r13l T C 7: 19,377,643 S798P possibly damaging Het
Ppp2r5b C T 19: 6,234,707 R42H probably damaging Het
Prph A G 15: 99,056,866 D271G probably damaging Het
Rassf9 T A 10: 102,512,563 L9Q possibly damaging Het
Rpap3 A G 15: 97,696,577 Y157H possibly damaging Het
Tacstd2 A T 6: 67,535,069 I213N probably damaging Het
Tlr12 A G 4: 128,617,713 L248P probably damaging Het
Trip11 A T 12: 101,884,001 I1268N probably damaging Het
Zp1 C T 19: 10,918,612 G220D probably damaging Het
Other mutations in Prg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0114:Prg2 UTSW 2 84983456 splice site probably benign
R0972:Prg2 UTSW 2 84982049 missense probably benign 0.00
R2029:Prg2 UTSW 2 84981998 splice site probably benign
R5000:Prg2 UTSW 2 84982023 missense probably benign 0.33
R6661:Prg2 UTSW 2 84983276 critical splice donor site probably null
R6919:Prg2 UTSW 2 84983256 missense probably damaging 1.00
R6972:Prg2 UTSW 2 84982273 missense probably benign 0.14
Z1088:Prg2 UTSW 2 84982265 missense possibly damaging 0.91
Posted On2015-04-16