Incidental Mutation 'R3115:Prph'
ID 263997
Institutional Source Beutler Lab
Gene Symbol Prph
Ensembl Gene ENSMUSG00000023484
Gene Name peripherin
Synonyms Prph1
MMRRC Submission 040588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R3115 (G1)
Quality Score 218
Status Validated
Chromosome 15
Chromosomal Location 98953055-98956859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98953337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 84 (F84I)
Ref Sequence ENSEMBL: ENSMUSP00000155294 (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: F84I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: F84I

DomainStartEndE-ValueType
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: F84I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: F84I

DomainStartEndE-ValueType
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: F84I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3461 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 96% (47/49)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,266,653 (GRCm39) probably null Het
Abcc9 T C 6: 142,634,755 (GRCm39) T170A probably benign Het
Agbl2 T C 2: 90,636,245 (GRCm39) S594P possibly damaging Het
Aoc1l3 A G 6: 48,964,331 (GRCm39) Y113C probably damaging Het
Atf7 C T 15: 102,442,858 (GRCm39) S417N probably benign Het
Cacng7 T C 7: 3,387,450 (GRCm39) V111A probably benign Het
Chrm4 A G 2: 91,757,705 (GRCm39) T38A probably benign Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Dcx A G X: 142,706,105 (GRCm39) Y229H probably damaging Het
Espl1 T A 15: 102,231,639 (GRCm39) F1945Y possibly damaging Het
Glul T C 1: 153,783,038 (GRCm39) F204L possibly damaging Het
Grm2 A G 9: 106,524,822 (GRCm39) V631A probably damaging Het
Ifi205 T A 1: 173,855,901 (GRCm39) Y43F possibly damaging Het
Irs3 A G 5: 137,642,118 (GRCm39) L440P probably benign Het
Itpr1 A G 6: 108,383,070 (GRCm39) D1466G possibly damaging Het
Jarid2 T C 13: 45,049,942 (GRCm39) S257P probably damaging Het
Knl1 C A 2: 118,900,872 (GRCm39) L858M possibly damaging Het
Krt24 T A 11: 99,173,262 (GRCm39) T298S possibly damaging Het
Lrriq1 C T 10: 103,006,294 (GRCm39) R1277Q probably benign Het
Mgp A C 6: 136,849,683 (GRCm39) Y92D probably damaging Het
Micu3 A G 8: 40,835,208 (GRCm39) H521R probably benign Het
Mier3 T A 13: 111,843,182 (GRCm39) I178N probably damaging Het
Moxd1 G T 10: 24,177,429 (GRCm39) E582* probably null Het
Mprip T A 11: 59,656,229 (GRCm39) probably null Het
Mybph A G 1: 134,122,476 (GRCm39) I174V probably benign Het
Mynn C T 3: 30,661,959 (GRCm39) T347M probably damaging Het
Nhsl1 A T 10: 18,400,916 (GRCm39) Q714L probably damaging Het
Nr1d2 A T 14: 18,215,504 (GRCm38) probably null Het
Or10g3 T C 14: 52,610,397 (GRCm39) T38A probably damaging Het
Or2a5 T C 6: 42,873,784 (GRCm39) V133A probably benign Het
Or52h9 C A 7: 104,202,295 (GRCm39) H56Q probably benign Het
Or5p61 T C 7: 107,759,029 (GRCm39) E17G probably benign Het
Pcdha4 T C 18: 37,086,603 (GRCm39) V262A probably benign Het
Pde4d T A 13: 110,084,792 (GRCm39) M519K probably damaging Het
Phactr2 C A 10: 13,137,645 (GRCm39) E166* probably null Het
Prdx4 C T X: 154,113,407 (GRCm39) R167Q probably damaging Het
Prkdc C T 16: 15,482,222 (GRCm39) L422F probably benign Het
Rnmt A G 18: 68,447,079 (GRCm39) E321G probably benign Het
Serpinb13 A T 1: 106,910,568 (GRCm39) E64V probably null Het
Slc12a4 A T 8: 106,686,091 (GRCm39) S81T probably damaging Het
Slc47a1 A G 11: 61,258,506 (GRCm39) L179P possibly damaging Het
Sp140l2 C G 1: 85,235,106 (GRCm39) probably benign Het
Spata31e5 A C 1: 28,815,410 (GRCm39) V874G possibly damaging Het
Sycp2l C A 13: 41,302,274 (GRCm39) T456K probably benign Het
Tenm2 A G 11: 35,914,193 (GRCm39) L2447P probably damaging Het
Tll1 A G 8: 64,506,900 (GRCm39) C614R probably damaging Het
Usp5 T C 6: 124,792,560 (GRCm39) Y826C probably damaging Het
Vmn2r71 A C 7: 85,272,866 (GRCm39) D560A probably damaging Het
Wdr91 A G 6: 34,882,522 (GRCm39) L209P probably damaging Het
Zfp511 T A 7: 139,616,504 (GRCm39) D46E probably benign Het
Zfp81 C T 17: 33,553,537 (GRCm39) A426T possibly damaging Het
Zscan22 T C 7: 12,641,217 (GRCm39) I328T probably benign Het
Other mutations in Prph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Prph APN 15 98,956,517 (GRCm39) missense possibly damaging 0.88
IGL01472:Prph APN 15 98,956,474 (GRCm39) splice site probably benign
IGL01868:Prph APN 15 98,954,224 (GRCm39) missense probably damaging 1.00
IGL02714:Prph APN 15 98,954,747 (GRCm39) missense probably damaging 1.00
IGL02816:Prph APN 15 98,955,301 (GRCm39) missense probably damaging 0.97
R0242:Prph UTSW 15 98,953,608 (GRCm39) missense probably damaging 1.00
R0396:Prph UTSW 15 98,954,872 (GRCm39) missense probably benign
R0441:Prph UTSW 15 98,955,319 (GRCm39) missense probably damaging 1.00
R2065:Prph UTSW 15 98,954,014 (GRCm39) missense probably damaging 1.00
R2326:Prph UTSW 15 98,953,163 (GRCm39) unclassified probably benign
R4441:Prph UTSW 15 98,955,005 (GRCm39) missense probably damaging 1.00
R4794:Prph UTSW 15 98,955,308 (GRCm39) missense probably damaging 1.00
R5058:Prph UTSW 15 98,953,113 (GRCm39) unclassified probably benign
R5463:Prph UTSW 15 98,953,281 (GRCm39) missense probably benign 0.43
R6199:Prph UTSW 15 98,954,713 (GRCm39) missense probably benign 0.33
R6242:Prph UTSW 15 98,955,004 (GRCm39) missense probably damaging 0.99
R6502:Prph UTSW 15 98,954,267 (GRCm39) missense probably damaging 1.00
R7356:Prph UTSW 15 98,954,807 (GRCm39) missense probably damaging 1.00
R7818:Prph UTSW 15 98,955,753 (GRCm39) missense probably damaging 1.00
R8353:Prph UTSW 15 98,954,657 (GRCm39) missense probably benign 0.02
R8453:Prph UTSW 15 98,954,657 (GRCm39) missense probably benign 0.02
R9338:Prph UTSW 15 98,955,359 (GRCm39) missense probably damaging 1.00
Z1177:Prph UTSW 15 98,954,261 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGAGCCATCATCACTCGTCG -3'
(R):5'- ATGTCTGGTCACTTCCGCTAG -3'

Sequencing Primer
(F):5'- ATCATCACTCGTCGGGCCTG -3'
(R):5'- TGACCTCTGCTTGAGCGC -3'
Posted On 2015-02-05