Incidental Mutation 'R5562:Prnp'
ID 436651
Institutional Source Beutler Lab
Gene Symbol Prnp
Ensembl Gene ENSMUSG00000079037
Gene Name prion protein
Synonyms Sinc, Prn-p, PrPSc, Prn-i, PrPC, CD230, PrP
MMRRC Submission 043119-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R5562 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 131751848-131780349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131778951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 201 (D201G)
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 damaging
Transcript: ENSMUST00000091288
AA Change: D201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088833
Gene: ENSMUSG00000079037
AA Change: D201G

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 G A 19: 20,679,628 (GRCm39) Q383* probably null Het
Alkbh3 A T 2: 93,826,724 (GRCm39) probably null Het
Amotl1 G A 9: 14,486,593 (GRCm39) P434S possibly damaging Het
Arfgef1 T C 1: 10,214,971 (GRCm39) E1641G probably damaging Het
Arih2 T C 9: 108,484,546 (GRCm39) T422A probably damaging Het
C7 A T 15: 5,061,397 (GRCm39) Y317* probably null Het
Car4 A T 11: 84,854,924 (GRCm39) M91L probably benign Het
Ccdc7a T C 8: 129,785,266 (GRCm39) D98G possibly damaging Het
Cdc25b A G 2: 131,036,678 (GRCm39) M493V probably damaging Het
Cdhr3 C G 12: 33,101,054 (GRCm39) R452T probably benign Het
Col6a2 G A 10: 76,435,509 (GRCm39) Q909* probably null Het
Cyp2j8 A G 4: 96,358,890 (GRCm39) I343T probably damaging Het
Dcstamp G A 15: 39,617,798 (GRCm39) C69Y possibly damaging Het
Dnaaf8 C A 16: 4,791,940 (GRCm39) noncoding transcript Het
Efhc1 C T 1: 21,043,104 (GRCm39) T341I probably damaging Het
Elovl2 A G 13: 41,338,772 (GRCm39) *276Q probably null Het
Fnip1 T A 11: 54,380,168 (GRCm39) probably null Het
Foxc1 A G 13: 31,991,573 (GRCm39) H128R probably damaging Het
Gpr107 C T 2: 31,042,375 (GRCm39) A2V probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Kif15 A T 9: 122,807,081 (GRCm39) Q44H probably damaging Het
Masp1 T C 16: 23,283,917 (GRCm39) probably null Het
Muc5b T C 7: 141,400,975 (GRCm39) I530T unknown Het
Ncoa4-ps T A 12: 119,225,957 (GRCm39) noncoding transcript Het
Nherf2 A G 17: 24,860,798 (GRCm39) V137A probably benign Het
Nudt7 C A 8: 114,874,723 (GRCm39) A93D probably damaging Het
Or5w1b T C 2: 87,476,063 (GRCm39) I135V probably benign Het
Pcdha8 A G 18: 37,126,024 (GRCm39) T169A possibly damaging Het
Serinc1 G A 10: 57,400,147 (GRCm39) Q167* probably null Het
Slc13a5 A G 11: 72,152,865 (GRCm39) V35A probably damaging Het
Slc30a6 C T 17: 74,719,700 (GRCm39) T220I possibly damaging Het
Slc7a7 T A 14: 54,646,269 (GRCm39) M65L probably benign Het
Speg T A 1: 75,403,700 (GRCm39) L2627Q probably damaging Het
Tank A G 2: 61,480,552 (GRCm39) T363A possibly damaging Het
Taok3 T A 5: 117,389,029 (GRCm39) L478Q probably damaging Het
Trim55 A T 3: 19,713,317 (GRCm39) M123L probably benign Het
Trpm2 A G 10: 77,795,773 (GRCm39) V118A possibly damaging Het
Ttn A T 2: 76,600,803 (GRCm39) Y17114N probably damaging Het
Unc5c A G 3: 141,474,291 (GRCm39) T214A probably damaging Het
Ush2a T A 1: 188,308,414 (GRCm39) V2021E probably damaging Het
Utp4 G A 8: 107,649,557 (GRCm39) D669N probably benign Het
Zfp560 G T 9: 20,261,883 (GRCm39) Y89* probably null Het
Zfp64 A G 2: 168,767,642 (GRCm39) S657P 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCCATTTTGGCAACGACTGG -3'
(R):5'- CAGCCTAGACCACGAGAATG -3'

Sequencing Primer
(F):5'- ACTGGGAGGACCGCTACTAC -3'
(R):5'- CCTAGACCACGAGAATGCGAAG -3'
Posted On 2016-10-24