Incidental Mutation 'IGL01820:Prnp'
ID 154493
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 # IGL01820
Quality Score
Status
Chromosome 2
Chromosomal Location 131751848-131780349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131778990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 214 (V214A)
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: V214A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000088833
Gene: ENSMUSG00000079037
AA Change: V214A

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,765,896 (GRCm39) probably benign Het
Adcy2 T C 13: 68,886,664 (GRCm39) probably null Het
Akna G T 4: 63,304,495 (GRCm39) T553N probably benign Het
Boc A G 16: 44,312,235 (GRCm39) I609T possibly damaging Het
Btbd9 C T 17: 30,746,383 (GRCm39) V148I possibly damaging Het
Cacna1d A T 14: 29,764,823 (GRCm39) I2049N possibly damaging Het
Cdhr1 A T 14: 36,807,536 (GRCm39) M368K probably benign Het
Cftr A G 6: 18,226,138 (GRCm39) Y362C probably damaging Het
Cnppd1 G T 1: 75,116,236 (GRCm39) probably null Het
Col3a1 T C 1: 45,360,768 (GRCm39) I66T unknown Het
Col5a2 C A 1: 45,481,985 (GRCm39) M46I unknown Het
Csmd3 G T 15: 47,470,538 (GRCm39) C3379* probably null Het
Ctla2b T A 13: 61,044,503 (GRCm39) *28C probably null Het
Ddhd2 C T 8: 26,239,781 (GRCm39) E33K possibly damaging Het
Dock3 T C 9: 106,773,092 (GRCm39) H387R probably damaging Het
Dyrk1b T A 7: 27,881,025 (GRCm39) probably benign Het
Fam131c T C 4: 141,107,648 (GRCm39) C53R probably damaging Het
Fat1 T A 8: 45,463,539 (GRCm39) F1360L probably damaging Het
Gm10320 G T 13: 98,626,045 (GRCm39) S113* probably null Het
Ifih1 T C 2: 62,447,657 (GRCm39) D349G probably damaging Het
Il12a T C 3: 68,599,495 (GRCm39) probably benign Het
Ivl A T 3: 92,478,940 (GRCm39) M375K possibly damaging Het
Krt82 C A 15: 101,451,887 (GRCm39) probably benign Het
Mc4r C T 18: 66,992,226 (GRCm39) V296I probably benign Het
Met T A 6: 17,534,230 (GRCm39) I691N possibly damaging Het
Mycbp2 A T 14: 103,425,937 (GRCm39) I2396K probably damaging Het
Napg C A 18: 63,119,516 (GRCm39) Q135K probably benign Het
Nf2 A T 11: 4,739,655 (GRCm39) probably null Het
Nrxn1 G T 17: 90,950,531 (GRCm39) H549Q probably damaging Het
P4ha1 T A 10: 59,197,736 (GRCm39) I321K probably damaging Het
Prl5a1 T C 13: 28,332,683 (GRCm39) S94P probably benign Het
Ptprc A T 1: 137,993,936 (GRCm39) F1165I probably damaging Het
Rdh10 T C 1: 16,198,483 (GRCm39) V207A possibly damaging Het
Rel A T 11: 23,703,218 (GRCm39) N131K probably benign Het
Rgs14 A T 13: 55,531,338 (GRCm39) D448V probably benign Het
Spag5 T G 11: 78,195,085 (GRCm39) S131A probably benign Het
Styxl1 C T 5: 135,794,604 (GRCm39) D88N probably damaging Het
Tlr3 C T 8: 45,851,376 (GRCm39) R507H probably benign Het
Ttn C T 2: 76,616,670 (GRCm39) E16528K possibly damaging Het
Txlnb T C 10: 17,682,606 (GRCm39) probably null Het
Unc13a A G 8: 72,107,591 (GRCm39) V567A probably damaging Het
Vmn1r8 T C 6: 57,013,653 (GRCm39) S235P possibly damaging Het
Vmn2r51 T A 7: 9,839,409 (GRCm39) N60Y probably damaging Het
Wbp1l T A 19: 46,640,922 (GRCm39) L68Q probably damaging Het
Wdfy3 A T 5: 102,071,947 (GRCm39) V981E probably benign Het
Zdhhc13 T C 7: 48,458,613 (GRCm39) S316P probably damaging Het
Zfp516 C T 18: 83,005,486 (GRCm39) R797C probably benign Het
Zp3r A G 1: 130,526,657 (GRCm39) V182A probably benign Het
Other mutations in Prnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Prnp APN 2 131,779,031 (GRCm39) missense probably benign
IGL01081:Prnp APN 2 131,778,340 (GRCm39) intron probably benign
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 2014-02-04