Incidental Mutation 'R2303:Prnp'
ID 244483
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 040302-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.384) question?
Stock # R2303 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131751848-131780349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131779046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 233 (T233A)
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: T233A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088833
Gene: ENSMUSG00000079037
AA Change: T233A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T G 17: 65,141,561 (GRCm39) D14A unknown Het
Aars1 C A 8: 111,779,134 (GRCm39) T756K possibly damaging Het
Abca9 A T 11: 110,049,052 (GRCm39) M252K probably benign Het
Acan A G 7: 78,749,705 (GRCm39) E1492G probably benign Het
Arid1a C A 4: 133,414,562 (GRCm39) R1223L unknown Het
Ash1l T C 3: 88,933,733 (GRCm39) L2003S probably damaging Het
Cct8 A T 16: 87,287,220 (GRCm39) probably null Het
Dagla T C 19: 10,229,467 (GRCm39) T598A probably damaging Het
Ercc3 A G 18: 32,378,600 (GRCm39) I194V probably benign Het
Fbxo46 A G 7: 18,870,541 (GRCm39) N387D possibly damaging Het
Fn1 C T 1: 71,653,195 (GRCm39) probably null Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gnrhr C T 5: 86,345,608 (GRCm39) G26D probably benign Het
Hmcn1 A T 1: 150,579,977 (GRCm39) L1920Q probably damaging Het
Kank2 T A 9: 21,681,061 (GRCm39) I823F probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Mfsd6 T A 1: 52,715,672 (GRCm39) N535I probably damaging Het
Mgat5 T C 1: 127,374,036 (GRCm39) Y479H probably benign Het
Ncoa7 G A 10: 30,530,431 (GRCm39) T701I probably damaging Het
Or6c2 T C 10: 129,362,918 (GRCm39) V274A probably benign Het
Pcdh18 T C 3: 49,709,723 (GRCm39) R531G probably damaging Het
Pcdhb6 A G 18: 37,469,284 (GRCm39) H51R probably damaging Het
Pdik1l G A 4: 134,011,559 (GRCm39) Q95* probably null Het
Ppp4r3b A T 11: 29,150,741 (GRCm39) H469L possibly damaging Het
Rcan1 T C 16: 92,190,484 (GRCm39) T152A possibly damaging Het
Sema3g T C 14: 30,944,572 (GRCm39) F329L probably damaging Het
Setd1a G A 7: 127,398,327 (GRCm39) probably benign Het
Slc40a1 G A 1: 45,950,044 (GRCm39) probably benign Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Spg11 C T 2: 121,899,318 (GRCm39) C1589Y probably damaging Het
Stab1 T C 14: 30,868,027 (GRCm39) T1616A probably damaging Het
Trappc11 A G 8: 47,956,451 (GRCm39) Y842H probably damaging Het
Vwde T A 6: 13,215,806 (GRCm39) probably benign Het
Zcchc8 A G 5: 123,838,660 (GRCm39) L626P probably benign Het
Zfhx4 A G 3: 5,462,120 (GRCm39) H1240R probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCAACCAGAACAACTTCGTG -3'
(R):5'- CATCAGTGCCAGGGGTATTAGC -3'

Sequencing Primer
(F):5'- CTGCGTCAATATCACCATC -3'
(R):5'- GTATTAGCCTATGGGGGACAC -3'
Posted On 2014-10-30