Incidental Mutation 'IGL01323:Prph'
ID 74114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prph
Ensembl Gene ENSMUSG00000023484
Gene Name peripherin
Synonyms Prph1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL01323
Quality Score
Chromosome 15
Chromosomal Location 99055174-99058978 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99058636 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 465 (S465N)
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 possibly damaging
Transcript: ENSMUST00000024249
AA Change: S465N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: S465N

Pfam:Filament_head 19 99 2.7e-18 PFAM
Pfam:Filament 100 410 4.5e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047104
AA Change: S497N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: S497N

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 benign
Transcript: ENSMUST00000230021
AA Change: S496N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,871,495 (GRCm38) D1272G probably damaging Het
Ascl2 A G 7: 142,968,388 (GRCm38) S108P probably benign Het
B3gat1 T C 9: 26,755,910 (GRCm38) V146A possibly damaging Het
Barhl1 C T 2: 28,915,546 (GRCm38) S45N probably benign Het
Birc6 C T 17: 74,622,925 (GRCm38) A2370V probably damaging Het
C1qtnf7 A G 5: 43,609,260 (GRCm38) D67G possibly damaging Het
Cand2 A G 6: 115,785,125 (GRCm38) T171A probably benign Het
Ccdc77 T C 6: 120,334,796 (GRCm38) Q247R probably benign Het
Cenpp A T 13: 49,647,642 (GRCm38) V100D probably damaging Het
Cep135 A G 5: 76,591,765 (GRCm38) T3A probably benign Het
Eef2k T C 7: 120,884,815 (GRCm38) probably benign Het
Fga T C 3: 83,030,211 (GRCm38) S132P probably damaging Het
Gm4070 A G 7: 105,896,802 (GRCm38) S2348P possibly damaging Het
Gpr6 T A 10: 41,071,559 (GRCm38) N9I possibly damaging Het
Hacd3 A G 9: 64,998,305 (GRCm38) F184L probably damaging Het
Heatr1 T C 13: 12,398,938 (GRCm38) I132T possibly damaging Het
Igfbp7 A G 5: 77,352,037 (GRCm38) probably benign Het
Ighv8-6 T C 12: 115,165,857 (GRCm38) D93G possibly damaging Het
Izumo3 A G 4: 92,146,390 (GRCm38) probably benign Het
Jade2 T C 11: 51,825,338 (GRCm38) T347A possibly damaging Het
Kif18a A G 2: 109,298,442 (GRCm38) T419A probably benign Het
Krt34 A G 11: 100,038,780 (GRCm38) S267P possibly damaging Het
Krt4 T G 15: 101,920,281 (GRCm38) K383Q probably damaging Het
Lgals7 G T 7: 28,865,564 (GRCm38) E42D probably benign Het
Morc2b A G 17: 33,137,319 (GRCm38) V493A possibly damaging Het
Mtif2 T A 11: 29,541,447 (GRCm38) S557R probably damaging Het
Nup43 T A 10: 7,669,556 (GRCm38) F83I probably benign Het
Olfr107 G T 17: 37,406,140 (GRCm38) M197I probably benign Het
Oosp2 A G 19: 11,647,461 (GRCm38) L155S probably damaging Het
Plxnd1 T A 6: 115,966,799 (GRCm38) T1180S possibly damaging Het
Prpf39 T A 12: 65,042,724 (GRCm38) F79I possibly damaging Het
Purg A T 8: 33,386,603 (GRCm38) I90L probably damaging Het
Pxdn C A 12: 29,987,137 (GRCm38) Q305K probably benign Het
R3hdm1 G A 1: 128,216,543 (GRCm38) S816N probably benign Het
Src G A 2: 157,469,503 (GRCm38) G461R probably damaging Het
Tmem201 G A 4: 149,719,588 (GRCm38) probably benign Het
Tnfrsf22 G A 7: 143,643,374 (GRCm38) P76L probably damaging Het
Triml1 T C 8: 43,138,563 (GRCm38) probably null Het
Upp1 A G 11: 9,136,100 (GRCm38) *312W probably null Het
Wdfy3 G T 5: 101,895,064 (GRCm38) S1940R probably damaging Het
Xpc T C 6: 91,492,353 (GRCm38) Y804C probably damaging Het
Xrn2 C T 2: 147,034,847 (GRCm38) probably benign Het
Zfp106 A T 2: 120,524,464 (GRCm38) D1275E possibly damaging Het
Other mutations in Prph
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4441:Prph UTSW 15 99,057,124 (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
Posted On 2013-10-07