Incidental Mutation 'R6560:Prx'
ID 522010
Institutional Source Beutler Lab
Gene Symbol Prx
Ensembl Gene ENSMUSG00000053198
Gene Name periaxin
Synonyms L-Periaxin
MMRRC Submission 044684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6560 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27198730-27219466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27214746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 85 (Q85H)
Ref Sequence ENSEMBL: ENSMUSP00000103992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065487] [ENSMUST00000098644] [ENSMUST00000108355] [ENSMUST00000125990]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065487
AA Change: Q85H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066110
Gene: ENSMUSG00000053198
AA Change: Q85H

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: Q85H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096241
Gene: ENSMUSG00000053198
AA Change: Q85H

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 damaging
Transcript: ENSMUST00000108355
AA Change: Q85H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103992
Gene: ENSMUSG00000053198
AA Change: Q85H

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
PDZ 28 100 6.83e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125990
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,843,230 (GRCm39) L1235Q probably damaging Het
Acin1 T C 14: 54,916,290 (GRCm39) T174A probably benign Het
Adamtsl1 G A 4: 86,255,130 (GRCm39) R733H probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Arsk A T 13: 76,223,105 (GRCm39) I164N probably benign Het
Bbs5 T A 2: 69,487,300 (GRCm39) N194K probably damaging Het
Bicra T C 7: 15,723,119 (GRCm39) T133A possibly damaging Het
Card6 G A 15: 5,128,367 (GRCm39) P1010S probably damaging Het
Ccdc18 T A 5: 108,339,790 (GRCm39) N778K probably benign Het
Cept1 T C 3: 106,412,594 (GRCm39) I240V possibly damaging Het
Crip3 A G 17: 46,741,962 (GRCm39) R150G probably damaging Het
Cyp2c50 A G 19: 40,085,299 (GRCm39) T320A probably benign Het
Dio2 G C 12: 90,696,607 (GRCm39) S127* probably null Het
Dnai3 T C 3: 145,801,161 (GRCm39) E99G possibly damaging Het
Dscam T C 16: 96,626,935 (GRCm39) S325G probably benign Het
Exosc4 A G 15: 76,211,813 (GRCm39) I41V probably benign Het
Glb1l3 C T 9: 26,739,720 (GRCm39) probably null Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm3072 T A 14: 41,345,510 (GRCm39) D89V unknown Het
Gosr2 T C 11: 103,577,508 (GRCm39) H79R probably damaging Het
Has2 T A 15: 56,531,660 (GRCm39) T352S probably damaging Het
Insig1 T A 5: 28,276,531 (GRCm39) C32* probably null Het
Klf9 A G 19: 23,119,314 (GRCm39) S66G probably damaging Het
Mfn1 T C 3: 32,623,665 (GRCm39) I263T probably damaging Het
Myl2 G A 5: 122,240,834 (GRCm39) G38R probably null Het
Negr1 A G 3: 157,018,494 (GRCm39) T332A probably benign Het
Neo1 A G 9: 58,787,884 (GRCm39) S1417P possibly damaging Het
Or52ab4 T C 7: 102,987,945 (GRCm39) F228S probably benign Het
Or7e168 G A 9: 19,720,412 (GRCm39) S266N probably benign Het
Pcgf3 C A 5: 108,621,768 (GRCm39) H35Q probably damaging Het
Plppr5 A G 3: 117,465,639 (GRCm39) I297V probably benign Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Tex14 T G 11: 87,388,688 (GRCm39) M305R possibly damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Zfp619 G A 7: 39,186,954 (GRCm39) E995K probably damaging Het
Zfp90 A G 8: 107,142,379 (GRCm39) R4G probably 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
R0904:Prx UTSW 7 27,217,719 (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
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'- AATCTGGGATTGGGCCTCTC -3'
(R):5'- GTCGGGTTAGTGACAGACAG -3'

Sequencing Primer
(F):5'- CTCTTGGCTGACTCCTTGGAAG -3'
(R):5'- CCAAAGTGGGCCACAGTG -3'
Posted On 2018-06-06