Incidental Mutation 'IGL02816:Prph'
ID360801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prph
Ensembl Gene ENSMUSG00000023484
Gene Nameperipherin
SynonymsPrph1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02816
Quality Score
Status
Chromosome15
Chromosomal Location99055174-99058978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99057420 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 423 (M423V)
Ref Sequence ENSEMBL: ENSMUSP00000155294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024249] [ENSMUST00000047104] [ENSMUST00000229268] [ENSMUST00000230021]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024249
AA Change: M391V

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: M391V

DomainStartEndE-ValueType
Pfam:Filament_head 19 99 2.7e-18 PFAM
Pfam:Filament 100 410 4.5e-112 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000047104
AA Change: M423V

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: M423V

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: M423V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Caskin1 C A 17: 24,502,170 P495T probably benign Het
Clcn4 A G 7: 7,295,088 C41R probably damaging Het
Etfdh G A 3: 79,622,805 T52M probably damaging Het
Fam227a T C 15: 79,626,296 T386A possibly damaging Het
Gabrr3 T C 16: 59,440,467 probably benign Het
Krt25 G T 11: 99,318,151 D284E probably benign Het
Map1b T C 13: 99,441,755 D130G probably damaging Het
Nlrp3 T A 11: 59,555,782 F785I probably benign Het
Nrn1 C A 13: 36,730,106 probably null Het
Numa1 T A 7: 101,996,100 I311N probably damaging Het
Pkd1 T C 17: 24,594,515 C4010R probably benign Het
Rb1cc1 T A 1: 6,262,828 probably benign Het
Ribc2 T G 15: 85,132,905 V48G probably damaging Het
Scyl1 A T 19: 5,770,382 N141K probably damaging Het
Sec23a T A 12: 58,978,545 M497L probably benign Het
Strada C T 11: 106,164,425 probably benign Het
Tas2r144 A T 6: 42,215,605 Y93F probably benign Het
Tmem94 T A 11: 115,788,704 probably null Het
Trpc3 A G 3: 36,651,702 F448S probably damaging Het
Ttc13 A G 8: 124,712,676 I113T possibly damaging Het
Ttc27 T A 17: 74,747,774 probably benign Het
Ttll13 G T 7: 80,253,094 C170F possibly damaging Het
Yes1 C T 5: 32,645,107 T122M probably damaging Het
Other mutations in Prph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Prph APN 15 99058636 missense possibly damaging 0.88
IGL01472:Prph APN 15 99058593 splice site probably benign
IGL01868:Prph APN 15 99056343 missense probably damaging 1.00
IGL02714:Prph APN 15 99056866 missense probably damaging 1.00
R0242:Prph UTSW 15 99055727 missense probably damaging 1.00
R0396:Prph UTSW 15 99056991 missense probably benign
R0441:Prph UTSW 15 99057438 missense probably damaging 1.00
R2065:Prph UTSW 15 99056133 missense probably damaging 1.00
R2326:Prph UTSW 15 99055282 unclassified probably benign
R3115:Prph UTSW 15 99055456 missense probably damaging 1.00
R4441:Prph UTSW 15 99057124 missense probably damaging 1.00
R4794:Prph UTSW 15 99057427 missense probably damaging 1.00
R5058:Prph UTSW 15 99055232 unclassified probably benign
R5463:Prph UTSW 15 99055400 missense probably benign 0.43
R6199:Prph UTSW 15 99056832 missense probably benign 0.33
R6242:Prph UTSW 15 99057123 missense probably damaging 0.99
R6502:Prph UTSW 15 99056386 missense probably damaging 1.00
R7356:Prph UTSW 15 99056926 missense probably damaging 1.00
R7818:Prph UTSW 15 99057872 missense probably damaging 1.00
R8353:Prph UTSW 15 99056776 missense probably benign 0.02
Z1177:Prph UTSW 15 99056380 missense probably damaging 0.98
Posted On2015-12-18