Incidental Mutation 'IGL00778:Prg3'
ID10350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prg3
Ensembl Gene ENSMUSG00000027072
Gene Nameproteoglycan 3
SynonymsMBP2, major basic protein 2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00778
Quality Score
Status
Chromosome2
Chromosomal Location84988215-84993886 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84993732 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 212 (C212Y)
Ref Sequence ENSEMBL: ENSMUSP00000028466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028465] [ENSMUST00000028466] [ENSMUST00000111613]
Predicted Effect probably benign
Transcript: ENSMUST00000028465
SMART Domains Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 367 1.6e-151 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000028466
AA Change: C212Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028466
Gene: ENSMUSG00000027072
AA Change: C212Y

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CLECT 90 221 2.29e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111613
SMART Domains Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 372 4.7e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135939
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik G A 14: 44,163,934 H152Y probably benign Het
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Csgalnact2 A T 6: 118,126,272 M1K probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Pigw A G 11: 84,877,324 I393T possibly damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Raver2 C A 4: 101,096,271 Q79K probably benign Het
Sdr9c7 T C 10: 127,909,828 S270P probably damaging Het
Sfmbt2 A G 2: 10,402,007 E39G probably damaging Het
Strada A G 11: 106,171,150 probably benign Het
Xrn1 T C 9: 95,973,447 probably benign Het
Zic3 A G X: 58,034,419 Y424C probably damaging Het
Other mutations in Prg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Prg3 APN 2 84988747 missense probably benign 0.01
IGL03352:Prg3 APN 2 84993026 missense probably damaging 1.00
R3763:Prg3 UTSW 2 84992990 missense possibly damaging 0.95
R4721:Prg3 UTSW 2 84991406 missense possibly damaging 0.89
R7104:Prg3 UTSW 2 84988753 missense probably benign 0.00
R7183:Prg3 UTSW 2 84991504 missense probably benign 0.06
R7183:Prg3 UTSW 2 84993023 missense probably damaging 1.00
R7574:Prg3 UTSW 2 84989402 missense probably damaging 0.97
R8308:Prg3 UTSW 2 84989332 missense probably benign 0.01
Posted On2012-12-06