Incidental Mutation 'IGL00577:Prnp'
ID 7023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prnp
Ensembl Gene ENSMUSG00000079037
Gene Name prion protein
Synonyms Sinc, Prn-p, PrPSc, Prn-i, PrPC, CD230, PrP
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # IGL00577
Quality Score
Status
Chromosome 2
Chromosomal Location 131751848-131780349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131779031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 228 (R228G)
Ref Sequence ENSEMBL: ENSMUSP00000088833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091288] [ENSMUST00000124100] [ENSMUST00000136783]
AlphaFold P04925
PDB Structure PRION PROTEIN DOMAIN PRP(121-231) FROM MOUSE, NMR, 2 MINIMIZED AVERAGE STRUCTURE [SOLUTION NMR]
mouse prion protein fragment 121-231 [SOLUTION NMR]
Mouse Prion Protein with mutation N174T [SOLUTION NMR]
mouse prion protein with mutations S170N and N174T [SOLUTION NMR]
Mouse Prion Protein (121-231) with Mutation S170N [SOLUTION NMR]
Mouse Prion Protein (121-231) with Mutations Y225A and Y226A [SOLUTION NMR]
Mouse Prion Protein (121-231) with Mutation V166A [SOLUTION NMR]
Mouse Prion Protein (121-231) with mutation D167S [SOLUTION NMR]
Mouse Prion Protein (121-231) with mutations D167S and N173K [SOLUTION NMR]
Mouse prion protein (121-231) containing the substitution Y169G [SOLUTION NMR]
>> 11 additional structures at PDB <<
Predicted Effect probably benign
Transcript: ENSMUST00000091288
AA Change: R228G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088833
Gene: ENSMUSG00000079037
AA Change: R228G

DomainStartEndE-ValueType
PRP 23 241 7.26e-181 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124100
SMART Domains Protein: ENSMUSP00000116195
Gene: ENSMUSG00000098754

DomainStartEndE-ValueType
Pfam:Doppel 1 30 2.5e-22 PFAM
Pfam:Prion 64 179 4.4e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136783
SMART Domains Protein: ENSMUSP00000122345
Gene: ENSMUSG00000098754

DomainStartEndE-ValueType
Pfam:Doppel 1 30 2.5e-22 PFAM
Pfam:Prion 64 179 4.4e-54 PFAM
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 a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mutations at this locus affect resistance to scrapie infection and spongiform encephalopathy and/or alter scrapie incubation time. Homozygous mutants also show impaired locomotor coordination and reduced mitochondria numbers with unusual morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 T A 14: 44,239,458 (GRCm39) Y90F probably benign Het
Arhgef6 T A X: 56,290,992 (GRCm39) probably null Het
Ccdc88a A G 11: 29,374,772 (GRCm39) E115G probably damaging Het
Ceacam12 T A 7: 17,801,186 (GRCm39) V55E probably damaging Het
Depdc1a A T 3: 159,228,375 (GRCm39) R376* probably null Het
Dop1a A T 9: 86,402,999 (GRCm39) I1398F probably damaging Het
Eif2s1 T G 12: 78,913,420 (GRCm39) N40K possibly damaging Het
Epb41 T A 4: 131,702,042 (GRCm39) H531L probably benign Het
Frrs1 T A 3: 116,696,049 (GRCm39) W523R probably damaging Het
Gpatch8 T C 11: 102,369,704 (GRCm39) D1278G probably damaging Het
Mybpc1 C T 10: 88,372,246 (GRCm39) A795T probably damaging Het
Nrdc T C 4: 108,903,884 (GRCm39) probably benign Het
Os9 C T 10: 126,933,845 (GRCm39) R524K probably benign Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Plekha5 T A 6: 140,515,822 (GRCm39) probably benign Het
Prrc2c G A 1: 162,525,685 (GRCm39) P307L unknown Het
Prss1 T C 6: 41,439,645 (GRCm39) V126A possibly damaging Het
Ptpn21 G A 12: 98,699,860 (GRCm39) S18F probably damaging Het
Setdb1 T C 3: 95,245,888 (GRCm39) D678G probably damaging Het
Sltm G T 9: 70,486,624 (GRCm39) V430L probably damaging Het
Sphkap A G 1: 83,256,565 (GRCm39) S395P probably damaging Het
Tas2r119 T C 15: 32,177,599 (GRCm39) I55T probably damaging Het
Tmc3 A C 7: 83,252,682 (GRCm39) E361A probably null Het
Uggt2 A T 14: 119,272,312 (GRCm39) S922T possibly damaging Het
Znhit1 A T 5: 137,011,437 (GRCm39) Y125* probably null Het
Other mutations in Prnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Prnp APN 2 131,778,340 (GRCm39) intron probably benign
IGL01820:Prnp APN 2 131,778,990 (GRCm39) missense probably benign 0.05
R0837:Prnp UTSW 2 131,778,444 (GRCm39) missense probably damaging 1.00
R2303:Prnp UTSW 2 131,779,046 (GRCm39) missense probably benign 0.00
R5214:Prnp UTSW 2 131,778,924 (GRCm39) missense probably damaging 1.00
R5562:Prnp UTSW 2 131,778,951 (GRCm39) missense probably damaging 1.00
R6859:Prnp UTSW 2 131,778,708 (GRCm39) missense possibly damaging 0.93
R7589:Prnp UTSW 2 131,778,786 (GRCm39) missense probably benign 0.22
R8163:Prnp UTSW 2 131,778,908 (GRCm39) missense probably benign 0.01
R8420:Prnp UTSW 2 131,778,669 (GRCm39) missense probably benign 0.00
R9501:Prnp UTSW 2 131,779,037 (GRCm39) missense probably benign 0.35
Posted On 2012-04-20