Incidental Mutation 'R0904:Prx'
ID 83252
Institutional Source Beutler Lab
Gene Symbol Prx
Ensembl Gene ENSMUSG00000053198
Gene Name periaxin
Synonyms L-Periaxin
MMRRC Submission 039062-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0904 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 27198730-27219466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27217719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 879 (F879Y)
Ref Sequence ENSEMBL: ENSMUSP00000096241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065487] [ENSMUST00000098644] [ENSMUST00000108353] [ENSMUST00000108355] [ENSMUST00000125990]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065487
AA Change: F879Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066110
Gene: ENSMUSG00000053198
AA Change: F879Y

DomainStartEndE-ValueType
PDZ 28 100 6.83e-8 SMART
low complexity region 179 232 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
internal_repeat_3 316 419 9.05e-5 PROSPERO
internal_repeat_2 317 428 7.28e-6 PROSPERO
internal_repeat_1 321 508 8.09e-9 PROSPERO
internal_repeat_1 503 779 8.09e-9 PROSPERO
internal_repeat_2 840 974 7.28e-6 PROSPERO
internal_repeat_3 1176 1268 9.05e-5 PROSPERO
low complexity region 1275 1314 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098644
AA Change: F879Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096241
Gene: ENSMUSG00000053198
AA Change: F879Y

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDZ 28 100 6.83e-8 SMART
low complexity region 179 232 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 297 310 N/A INTRINSIC
internal_repeat_3 316 419 5.13e-5 PROSPERO
internal_repeat_2 317 428 3.79e-6 PROSPERO
internal_repeat_1 321 508 3.34e-9 PROSPERO
internal_repeat_1 503 779 3.34e-9 PROSPERO
internal_repeat_2 840 974 3.79e-6 PROSPERO
internal_repeat_3 1176 1268 5.13e-5 PROSPERO
low complexity region 1275 1314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108353
SMART Domains Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424

DomainStartEndE-ValueType
S_TKc 11 347 9.31e-74 SMART
low complexity region 396 410 N/A INTRINSIC
low complexity region 593 603 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108355
SMART Domains Protein: ENSMUSP00000103992
Gene: ENSMUSG00000053198

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDZ 28 100 6.83e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125990
AA Change: F740Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.0929 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,975,118 (GRCm39) probably benign Het
Abca13 T C 11: 9,248,740 (GRCm39) V2829A probably benign Het
Adk G T 14: 21,142,496 (GRCm39) D26Y probably damaging Het
Bpifb9a T C 2: 154,106,145 (GRCm39) probably benign Het
Dap G A 15: 31,272,526 (GRCm39) probably benign Het
Eqtn A T 4: 94,795,892 (GRCm39) S270T probably benign Het
Fam193a A G 5: 34,619,487 (GRCm39) D764G probably damaging Het
Fbxl6 A T 15: 76,421,283 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,268,014 (GRCm39) probably benign Het
H2-D1 G C 17: 35,482,837 (GRCm39) M122I probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map1s C A 8: 71,366,832 (GRCm39) P579Q probably damaging Het
Mapk10 A G 5: 103,135,146 (GRCm39) probably benign Het
Mllt6 C G 11: 97,555,824 (GRCm39) C51W probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Neurod2 G T 11: 98,218,147 (GRCm39) T339K probably benign Het
Nfya G A 17: 48,702,815 (GRCm39) Q29* probably null Het
Nipbl A T 15: 8,391,202 (GRCm39) D257E probably benign Het
Pate5 T C 9: 35,750,366 (GRCm39) D102G probably damaging Het
Pex5 G A 6: 124,376,896 (GRCm39) probably benign Het
Pramel47 A C 5: 95,489,186 (GRCm39) T210P probably damaging Het
Resf1 G A 6: 149,229,767 (GRCm39) A938T probably damaging Het
Scai G A 2: 38,965,164 (GRCm39) T560M possibly damaging Het
Slfn10-ps T C 11: 82,926,235 (GRCm39) noncoding transcript Het
Spdye4b A G 5: 143,181,423 (GRCm39) probably benign Het
Ss18l1 A G 2: 179,701,147 (GRCm39) Y287C probably damaging Het
Tpbg C A 9: 85,726,617 (GRCm39) F195L unknown Het
Trbv16 T C 6: 41,128,781 (GRCm39) probably benign Het
Unc5c A G 3: 141,509,601 (GRCm39) T620A probably benign Het
Vangl1 A G 3: 102,091,310 (GRCm39) S259P probably damaging Het
Vmn1r52 T A 6: 90,156,446 (GRCm39) M71K probably damaging Het
Vmn2r23 A T 6: 123,719,094 (GRCm39) I816F probably damaging Het
Zfp268 T C 4: 145,348,745 (GRCm39) Y61H possibly damaging Het
Other mutations in Prx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Prx APN 7 27,218,844 (GRCm39) missense probably benign 0.12
IGL01702:Prx APN 7 27,219,212 (GRCm39) missense probably benign 0.00
IGL02012:Prx APN 7 27,217,326 (GRCm39) missense probably damaging 1.00
IGL02214:Prx APN 7 27,218,337 (GRCm39) missense probably damaging 1.00
IGL02498:Prx APN 7 27,217,497 (GRCm39) missense probably damaging 1.00
IGL03029:Prx APN 7 27,207,486 (GRCm39) nonsense probably null
R0522:Prx UTSW 7 27,217,620 (GRCm39) missense probably damaging 0.99
R0655:Prx UTSW 7 27,216,846 (GRCm39) missense probably damaging 1.00
R1161:Prx UTSW 7 27,219,102 (GRCm39) missense probably damaging 1.00
R1170:Prx UTSW 7 27,217,432 (GRCm39) nonsense probably null
R1270:Prx UTSW 7 27,218,355 (GRCm39) missense probably damaging 0.96
R1470:Prx UTSW 7 27,217,026 (GRCm39) missense probably benign 0.19
R1470:Prx UTSW 7 27,217,026 (GRCm39) missense probably benign 0.19
R1536:Prx UTSW 7 27,216,683 (GRCm39) missense probably damaging 0.99
R1721:Prx UTSW 7 27,216,948 (GRCm39) missense probably benign 0.19
R1815:Prx UTSW 7 27,216,090 (GRCm39) missense probably damaging 1.00
R1848:Prx UTSW 7 27,218,313 (GRCm39) missense possibly damaging 0.70
R1894:Prx UTSW 7 27,218,535 (GRCm39) missense possibly damaging 0.68
R2179:Prx UTSW 7 27,217,410 (GRCm39) missense probably benign
R2207:Prx UTSW 7 27,216,213 (GRCm39) missense probably damaging 1.00
R2312:Prx UTSW 7 27,216,051 (GRCm39) missense possibly damaging 0.87
R2356:Prx UTSW 7 27,207,284 (GRCm39) start gained probably benign
R2519:Prx UTSW 7 27,217,668 (GRCm39) missense probably benign 0.43
R2912:Prx UTSW 7 27,215,654 (GRCm39) missense probably damaging 1.00
R4717:Prx UTSW 7 27,216,152 (GRCm39) missense probably benign 0.07
R4868:Prx UTSW 7 27,217,004 (GRCm39) missense probably benign 0.01
R5153:Prx UTSW 7 27,217,901 (GRCm39) missense probably damaging 1.00
R5418:Prx UTSW 7 27,216,699 (GRCm39) missense probably damaging 0.99
R5653:Prx UTSW 7 27,217,029 (GRCm39) missense probably damaging 1.00
R5895:Prx UTSW 7 27,214,709 (GRCm39) missense probably damaging 1.00
R6022:Prx UTSW 7 27,216,998 (GRCm39) missense probably damaging 1.00
R6112:Prx UTSW 7 27,215,973 (GRCm39) missense probably damaging 1.00
R6223:Prx UTSW 7 27,216,261 (GRCm39) missense probably damaging 1.00
R6560:Prx UTSW 7 27,214,746 (GRCm39) missense probably damaging 1.00
R6888:Prx UTSW 7 27,219,059 (GRCm39) missense possibly damaging 0.73
R7530:Prx UTSW 7 27,207,397 (GRCm39) missense probably damaging 1.00
R7854:Prx UTSW 7 27,216,066 (GRCm39) missense probably damaging 1.00
R8258:Prx UTSW 7 27,218,808 (GRCm39) missense probably damaging 1.00
R8259:Prx UTSW 7 27,218,808 (GRCm39) missense probably damaging 1.00
R8831:Prx UTSW 7 27,217,538 (GRCm39) missense probably damaging 0.99
R9335:Prx UTSW 7 27,217,496 (GRCm39) missense probably damaging 1.00
R9602:Prx UTSW 7 27,218,445 (GRCm39) missense possibly damaging 0.93
R9717:Prx UTSW 7 27,217,411 (GRCm39) missense probably benign 0.32
RF009:Prx UTSW 7 27,218,385 (GRCm39) missense probably damaging 1.00
X0028:Prx UTSW 7 27,217,158 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAGTTGCCCAAGATGACCATGCCC -3'
(R):5'- AGGCTTGCTATCAGCTACTTCCACC -3'

Sequencing Primer
(F):5'- ACTGAGGCATCCCATGTTG -3'
(R):5'- CATCCAGGCTGAGCTGTG -3'
Posted On 2013-11-08