Incidental Mutation 'R4441:Prph'
ID 329784
Institutional Source Beutler Lab
Gene Symbol Prph
Ensembl Gene ENSMUSG00000023484
Gene Name peripherin
Synonyms Prph1
MMRRC Submission 041706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R4441 (G1)
Quality Score 222
Status Validated
Chromosome 15
Chromosomal Location 99055174-99058978 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99057124 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 325 (S325N)
Ref Sequence ENSEMBL: ENSMUSP00000024249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024249] [ENSMUST00000047104] [ENSMUST00000229268] [ENSMUST00000230021]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024249
AA Change: S325N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: S325N

Pfam:Filament_head 19 99 2.7e-18 PFAM
Pfam:Filament 100 410 4.5e-112 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000047104
AA Change: S357N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: S357N

Pfam:Filament_head 19 99 3.2e-18 PFAM
Filament 100 442 1.87e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229268
Predicted Effect probably damaging
Transcript: ENSMUST00000230021
AA Change: S357N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.1020 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice showed no overt phenotype up to 14 months of age. While overall structure, number, and caliber of large myelinated axons was normal, mice had reduced numbers of a small subset of unmelinated sensory axons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,527,801 (GRCm38) R1238S probably benign Het
Ankmy1 A T 1: 92,888,661 (GRCm38) Y244N possibly damaging Het
Asxl3 C T 18: 22,524,233 (GRCm38) P1767S probably damaging Het
C1qtnf7 A T 5: 43,609,270 (GRCm38) K70N possibly damaging Het
Cibar1 A G 4: 12,157,733 (GRCm38) M261T probably damaging Het
Fam78b C A 1: 167,078,922 (GRCm38) Q217K probably damaging Het
Garem1 T C 18: 21,168,750 (GRCm38) T127A possibly damaging Het
Gls A T 1: 52,196,163 (GRCm38) probably null Het
Gm12790 A C 4: 101,968,140 (GRCm38) S26A probably damaging Het
Gm136 T C 4: 34,755,911 (GRCm38) D34G probably benign Het
Gmds A G 13: 31,940,478 (GRCm38) probably null Het
Hdac9 G T 12: 34,389,376 (GRCm38) H401N probably damaging Het
Hmcn1 T C 1: 150,657,459 (GRCm38) I3026V probably null Het
Igkv6-20 A T 6: 70,336,117 (GRCm38) M24K probably damaging Het
Ilf2 T C 3: 90,487,462 (GRCm38) L339P probably benign Het
Insr T A 8: 3,194,902 (GRCm38) K501N probably benign Het
Lyst G A 13: 13,635,383 (GRCm38) R546H probably damaging Het
Mcm5 T C 8: 75,112,544 (GRCm38) S142P probably benign Het
Mcpt9 A G 14: 56,027,552 (GRCm38) V164A probably damaging Het
Ncapd3 T A 9: 27,051,645 (GRCm38) D415E possibly damaging Het
Nfia T C 4: 97,772,913 (GRCm38) probably null Het
Nipbl G C 15: 8,366,658 (GRCm38) Q144E probably damaging Het
Or51g1 A T 7: 102,984,309 (GRCm38) V285E possibly damaging Het
Or51q1c T G 7: 104,004,072 (GRCm38) F266V probably damaging Het
Or6z5 T C 7: 6,474,925 (GRCm38) S272P probably benign Het
Pcdhgb8 A G 18: 37,763,061 (GRCm38) I395V possibly damaging Het
Plcz1 T A 6: 139,990,687 (GRCm38) L605F probably benign Het
Ptpn23 A G 9: 110,392,725 (GRCm38) M131T probably benign Het
Rab3ip T G 10: 116,915,932 (GRCm38) D278A probably benign Het
Rasgrf2 T C 13: 91,983,678 (GRCm38) D620G possibly damaging Het
Rbm5 A G 9: 107,749,688 (GRCm38) probably benign Het
Rc3h2 A G 2: 37,414,514 (GRCm38) probably null Het
Saxo5 C T 8: 3,476,105 (GRCm38) S86L probably damaging Het
Tbxa2r T C 10: 81,333,091 (GRCm38) S205P probably damaging Het
Tenm4 A G 7: 96,895,815 (GRCm38) N2375S probably benign Het
Tespa1 C T 10: 130,361,957 (GRCm38) R283C probably damaging Het
Tle2 A G 10: 81,581,682 (GRCm38) E227G possibly damaging Het
Tnik A G 3: 28,564,097 (GRCm38) I266V possibly damaging Het
Tnn T G 1: 160,116,080 (GRCm38) E1054D probably benign Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Trpm1 A G 7: 64,201,918 (GRCm38) D12G probably damaging Het
Vrk3 C T 7: 44,775,442 (GRCm38) T427M probably benign Het
Wdr7 T A 18: 63,755,210 (GRCm38) Y585N probably damaging Het
Zgrf1 T A 3: 127,586,137 (GRCm38) N223K possibly damaging Het
Other mutations in Prph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Prph APN 15 99,058,636 (GRCm38) missense possibly damaging 0.88
IGL01472:Prph APN 15 99,058,593 (GRCm38) splice site probably benign
IGL01868:Prph APN 15 99,056,343 (GRCm38) missense probably damaging 1.00
IGL02714:Prph APN 15 99,056,866 (GRCm38) missense probably damaging 1.00
IGL02816:Prph APN 15 99,057,420 (GRCm38) missense probably damaging 0.97
R0242:Prph UTSW 15 99,055,727 (GRCm38) missense probably damaging 1.00
R0396:Prph UTSW 15 99,056,991 (GRCm38) missense probably benign
R0441:Prph UTSW 15 99,057,438 (GRCm38) missense probably damaging 1.00
R2065:Prph UTSW 15 99,056,133 (GRCm38) missense probably damaging 1.00
R2326:Prph UTSW 15 99,055,282 (GRCm38) unclassified probably benign
R3115:Prph UTSW 15 99,055,456 (GRCm38) missense probably damaging 1.00
R4794:Prph UTSW 15 99,057,427 (GRCm38) missense probably damaging 1.00
R5058:Prph UTSW 15 99,055,232 (GRCm38) unclassified probably benign
R5463:Prph UTSW 15 99,055,400 (GRCm38) missense probably benign 0.43
R6199:Prph UTSW 15 99,056,832 (GRCm38) missense probably benign 0.33
R6242:Prph UTSW 15 99,057,123 (GRCm38) missense probably damaging 0.99
R6502:Prph UTSW 15 99,056,386 (GRCm38) missense probably damaging 1.00
R7356:Prph UTSW 15 99,056,926 (GRCm38) missense probably damaging 1.00
R7818:Prph UTSW 15 99,057,872 (GRCm38) missense probably damaging 1.00
R8353:Prph UTSW 15 99,056,776 (GRCm38) missense probably benign 0.02
R8453:Prph UTSW 15 99,056,776 (GRCm38) missense probably benign 0.02
R9338:Prph UTSW 15 99,057,478 (GRCm38) missense probably damaging 1.00
Z1177:Prph UTSW 15 99,056,380 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21