Incidental Mutation 'IGL01868:Prph'
ID178608
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: 0.246) question?
Stock #IGL01868
Quality Score
Status
Chromosome15
Chromosomal Location99055174-99058978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 99056343 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 207 (D207E)
Ref Sequence ENSEMBL: ENSMUSP00000049303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024249] [ENSMUST00000047104] [ENSMUST00000229268] [ENSMUST00000230021]
Predicted Effect probably damaging
Transcript: ENSMUST00000024249
AA Change: D207E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: D207E

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: D207E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: D207E

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: D207E

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,414,148 T569M possibly damaging Het
Aldh1l1 A T 6: 90,583,230 K620* probably null Het
Amdhd2 G T 17: 24,157,530 T346K probably damaging Het
Arhgap44 T C 11: 65,012,078 D521G probably damaging Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Ccdc187 C A 2: 26,280,948 R506L probably benign Het
Cd37 T C 7: 45,236,179 Q128R probably benign Het
Cdh22 T A 2: 165,157,358 M185L probably damaging Het
Cib2 A T 9: 54,548,475 N68K probably damaging Het
Ddx46 C T 13: 55,639,870 R96* probably null Het
Dnajc13 A T 9: 104,162,745 H2050Q possibly damaging Het
Duox1 A G 2: 122,338,407 H1172R probably benign Het
Eftud2 C T 11: 102,869,127 V132I probably benign Het
Fcrl5 G A 3: 87,443,707 D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14548 G A 7: 3,897,175 Q143* probably null Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Kat6a T C 8: 22,926,455 F660L probably damaging Het
Lipo2 T C 19: 33,730,838 M259V probably benign Het
Lrrcc1 T A 3: 14,554,357 L90* probably null Het
Lsm1 G A 8: 25,793,793 probably null Het
Luzp1 T C 4: 136,542,737 I757T probably damaging Het
Micall1 A G 15: 79,115,060 I76V probably benign Het
Mmp21 A T 7: 133,675,914 D394E probably damaging Het
Mtfr1l T C 4: 134,530,707 D68G probably null Het
Necab2 A G 8: 119,462,576 S162G probably benign Het
Olfr1186 T C 2: 88,525,715 V44A possibly damaging Het
Olfr429 C T 1: 174,089,370 T110I possibly damaging Het
Olfr64 G A 7: 103,893,376 R120* probably null Het
Olfr96 A T 17: 37,225,152 Q9L probably benign Het
Pde7b A T 10: 20,407,165 C376* probably null Het
Plcb2 A G 2: 118,709,590 L1074P probably damaging Het
Plcb2 G T 2: 118,711,387 T914N probably benign Het
Prrxl1 C A 14: 32,608,377 F150L probably damaging Het
Rbp4 C A 19: 38,124,520 R37L probably damaging Het
Ryr3 T C 2: 112,803,158 probably benign Het
Sardh T G 2: 27,227,147 Q496P probably benign Het
Serpina1f T A 12: 103,693,445 N193Y probably benign Het
Slc10a7 G A 8: 78,697,336 probably null Het
Spg7 T C 8: 123,090,236 probably null Het
Sphkap T C 1: 83,280,399 probably null Het
Tas2r121 T A 6: 132,700,272 I246L probably benign Het
Tbc1d9b T C 11: 50,161,633 F889S probably damaging Het
Tcp10a T C 17: 7,329,864 M140T possibly damaging Het
Tctn2 G A 5: 124,616,528 noncoding transcript Het
Tfap2b G T 1: 19,214,282 R138L probably damaging Het
Tnrc18 T C 5: 142,771,812 T985A unknown Het
Treml1 G A 17: 48,366,007 V211I probably benign Het
Ubr4 C T 4: 139,412,678 Q1191* probably null Het
Vim G A 2: 13,578,438 R217H possibly damaging Het
Vmn2r77 A G 7: 86,803,016 D468G probably benign Het
Vmn2r98 G T 17: 19,066,286 V349F probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vwa7 A T 17: 35,021,259 E401V probably null Het
Zfp119b C A 17: 55,939,866 V75L possibly damaging Het
Zfp287 C T 11: 62,715,257 E275K probably benign 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
IGL02714:Prph APN 15 99056866 missense probably damaging 1.00
IGL02816:Prph APN 15 99057420 missense probably damaging 0.97
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
Posted On2014-05-07