Incidental Mutation 'R5647:Pmp2'
ID 441206
Institutional Source Beutler Lab
Gene Symbol Pmp2
Ensembl Gene ENSMUSG00000052468
Gene Name peripheral myelin protein 2
Synonyms P2
MMRRC Submission 043295-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R5647 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 10244911-10248945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10248845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 12 (V12A)
Ref Sequence ENSEMBL: ENSMUSP00000029034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029034] [ENSMUST00000194885]
AlphaFold P24526
Predicted Effect probably benign
Transcript: ENSMUST00000029034
AA Change: V12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029034
Gene: ENSMUSG00000052468
AA Change: V12A

DomainStartEndE-ValueType
Pfam:Lipocalin 6 132 2.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194885
SMART Domains Protein: ENSMUSP00000141340
Gene: ENSMUSG00000103124

DomainStartEndE-ValueType
Pfam:Lipocalin 16 94 8.7e-14 PFAM
Meta Mutation Damage Score 0.1377 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 95% (55/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010L04Rik T C 7: 82,505,606 (GRCm39) noncoding transcript Het
9330159F19Rik A T 10: 29,101,250 (GRCm39) D541V probably damaging Het
Abcc5 T C 16: 20,218,597 (GRCm39) I262V probably damaging Het
Acvr1c T A 2: 58,185,976 (GRCm39) D169V probably damaging Het
Aldh16a1 A G 7: 44,803,889 (GRCm39) V6A probably benign Het
Brd10 A G 19: 29,731,210 (GRCm39) S601P possibly damaging Het
Cd36 A C 5: 18,019,763 (GRCm39) S113A probably damaging Het
Cdt1 G T 8: 123,296,947 (GRCm39) R247L possibly damaging Het
Ces4a G A 8: 105,872,712 (GRCm39) V322M probably benign Het
Cngb3 A T 4: 19,364,266 (GRCm39) T157S possibly damaging Het
Cpped1 T C 16: 11,646,010 (GRCm39) probably benign Het
Ctr9 G T 7: 110,654,751 (GRCm39) R1094L unknown Het
Cyld A T 8: 89,461,554 (GRCm39) I664L probably benign Het
Dvl2 C T 11: 69,900,275 (GRCm39) P690S possibly damaging Het
Fbxo7 A C 10: 85,864,974 (GRCm39) E94D probably damaging Het
Fstl5 A C 3: 76,496,399 (GRCm39) K387N probably damaging Het
Gm9845 A C 3: 39,412,520 (GRCm39) noncoding transcript Het
Hk1 T C 10: 62,111,523 (GRCm39) D746G probably damaging Het
Lmbr1 A G 5: 29,468,391 (GRCm39) probably null Het
Lrp2 C T 2: 69,350,258 (GRCm39) A705T probably null Het
Lrrc37 T C 11: 103,508,300 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,952,067 (GRCm39) probably null Het
Myo15b T A 11: 115,762,337 (GRCm39) L1219Q probably damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Or4g16 G T 2: 111,137,392 (GRCm39) A281S possibly damaging Het
Or5b111 A T 19: 13,291,553 (GRCm39) I32N probably damaging Het
Or5b113 T C 19: 13,342,541 (GRCm39) V183A probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pcnt T C 10: 76,221,675 (GRCm39) T1984A probably benign Het
Plcg1 T C 2: 160,593,588 (GRCm39) L251P probably benign Het
Plin1 T A 7: 79,371,320 (GRCm39) D468V probably benign Het
Rnf19a T A 15: 36,266,109 (GRCm39) probably benign Het
Rnf214 G A 9: 45,779,344 (GRCm39) Q469* probably null Het
Rrp1b T G 17: 32,274,985 (GRCm39) probably benign Het
Rtl1 C T 12: 109,561,113 (GRCm39) R242Q unknown Het
Sema3e A T 5: 14,275,567 (GRCm39) E224V probably damaging Het
Sphkap A G 1: 83,385,720 (GRCm39) S5P probably damaging Het
Stab1 A C 14: 30,879,397 (GRCm39) Y694* probably null Het
Stambpl1 T C 19: 34,211,686 (GRCm39) L249P probably benign Het
Thap4 A T 1: 93,642,665 (GRCm39) H515Q probably damaging Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Uaca A G 9: 60,779,380 (GRCm39) R1256G probably benign Het
Usp17lb T A 7: 104,489,881 (GRCm39) N348Y possibly damaging Het
Vmn1r42 A G 6: 89,822,314 (GRCm39) I85T probably benign Het
Vps9d1 A T 8: 123,975,598 (GRCm39) L149Q probably damaging Het
Zdhhc17 A T 10: 110,809,694 (GRCm39) I153N probably damaging Het
Zfp207 G A 11: 80,283,959 (GRCm39) S293N possibly damaging Het
Zfp346 A G 13: 55,270,170 (GRCm39) D198G probably damaging Het
Zfp953 A T 13: 67,491,536 (GRCm39) C139S possibly damaging Het
Other mutations in Pmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Pmp2 APN 3 10,247,541 (GRCm39) nonsense probably null
IGL02367:Pmp2 APN 3 10,247,560 (GRCm39) missense probably damaging 1.00
IGL02479:Pmp2 APN 3 10,247,262 (GRCm39) missense probably benign 0.00
R0419:Pmp2 UTSW 3 10,245,823 (GRCm39) missense probably damaging 1.00
R1754:Pmp2 UTSW 3 10,247,284 (GRCm39) critical splice acceptor site probably null
R1943:Pmp2 UTSW 3 10,247,570 (GRCm39) missense probably benign 0.01
R5141:Pmp2 UTSW 3 10,247,474 (GRCm39) missense probably benign 0.02
R6749:Pmp2 UTSW 3 10,247,542 (GRCm39) missense probably benign 0.32
R8789:Pmp2 UTSW 3 10,247,564 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTGCAAAACTGTCTTCAAGTTCC -3'
(R):5'- AGGGTGAGTCACATGCTTTG -3'

Sequencing Primer
(F):5'- GTTCCATGCATTTAAATAGCTTTGTG -3'
(R):5'- CACATGCTTTGGGTTTCTTTGAAAAG -3'
Posted On 2016-11-08