Incidental Mutation 'R5058:Prph'
ID 391053
Institutional Source Beutler Lab
Gene Symbol Prph
Ensembl Gene ENSMUSG00000023484
Gene Name peripherin
Synonyms Prph1
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5058 (G1)
Quality Score 160
Status Validated
Chromosome 15
Chromosomal Location 98953055-98956859 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 98953113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024249] [ENSMUST00000047104] [ENSMUST00000229268] [ENSMUST00000230021]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000024249
AA Change: H9L
SMART Domains Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: H9L

Pfam:Filament_head 19 99 2.7e-18 PFAM
Pfam:Filament 100 410 4.5e-112 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000047104
AA Change: H9L
SMART Domains Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: H9L

Pfam:Filament_head 19 99 3.2e-18 PFAM
Filament 100 442 1.87e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229268
Predicted Effect unknown
Transcript: ENSMUST00000230021
AA Change: H9L
Meta Mutation Damage Score 0.0780 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably damaging 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
R3115:Prph UTSW 15 98,953,337 (GRCm39) missense probably damaging 1.00
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
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

Sequencing Primer
Posted On 2016-06-06