Incidental Mutation 'R4020:Pllp'
ID 312736
Institutional Source Beutler Lab
Gene Symbol Pllp
Ensembl Gene ENSMUSG00000031775
Gene Name plasma membrane proteolipid
Synonyms Tm4sf11, 0610010I06Rik, plasmolipin
MMRRC Submission 040954-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4020 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 95401523-95422870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95406072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 70 (M70I)
Ref Sequence ENSEMBL: ENSMUSP00000034227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034227] [ENSMUST00000213043]
AlphaFold Q9DCU2
Predicted Effect possibly damaging
Transcript: ENSMUST00000034227
AA Change: M70I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034227
Gene: ENSMUSG00000031775
AA Change: M70I

DomainStartEndE-ValueType
Pfam:MARVEL 32 160 6.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212778
Predicted Effect probably benign
Transcript: ENSMUST00000213043
Meta Mutation Damage Score 0.5025 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G C 8: 89,035,362 (GRCm39) V89L probably benign Het
Aebp2 T A 6: 140,588,021 (GRCm39) S364T probably damaging Het
Akr1b10 C T 6: 34,369,388 (GRCm39) T206I probably benign Het
Ap4e1 C T 2: 126,903,846 (GRCm39) S916F probably benign Het
Apob C T 12: 8,044,914 (GRCm39) Q845* probably null Het
Asb4 A G 6: 5,390,803 (GRCm39) probably benign Het
Bltp1 A G 3: 37,066,724 (GRCm39) probably benign Het
C1ra A T 6: 124,496,736 (GRCm39) T391S probably benign Het
Catsperg2 C A 7: 29,416,429 (GRCm39) D328Y probably damaging Het
Ciapin1 G T 8: 95,555,814 (GRCm39) L119M probably damaging Het
Crhr2 A G 6: 55,077,765 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,406,407 (GRCm39) S455P probably benign Het
Dctn4 G A 18: 60,671,329 (GRCm39) probably benign Het
Defa25 C T 8: 21,575,245 (GRCm39) R75C probably benign Het
Dnajc10 T C 2: 80,175,296 (GRCm39) L561P probably damaging Het
Dnajc7 A T 11: 100,482,292 (GRCm39) F185L probably damaging Het
Dock9 T C 14: 121,844,267 (GRCm39) I1175V probably benign Het
Drosha T G 15: 12,837,422 (GRCm39) L302R possibly damaging Het
Efcab5 C T 11: 76,994,930 (GRCm39) V1214I probably benign Het
Erich3 G A 3: 154,419,686 (GRCm39) R260H probably damaging Het
Fam168b T C 1: 34,867,860 (GRCm39) T47A possibly damaging Het
Gorasp1 G A 9: 119,757,936 (GRCm39) R290C probably benign Het
Gtf2a1 A G 12: 91,539,351 (GRCm39) S94P possibly damaging Het
Ighv1-53 C T 12: 115,122,442 (GRCm39) C5Y probably benign Het
Impdh1 T C 6: 29,202,693 (GRCm39) I446V probably benign Het
Krtap5-1 T C 7: 141,850,094 (GRCm39) probably null Het
Lipo3 T A 19: 33,764,804 (GRCm39) I17L probably benign Het
Lrrc37 A G 11: 103,506,119 (GRCm39) S1950P probably benign Het
Lss T C 10: 76,383,278 (GRCm39) M526T probably damaging Het
Med12l A C 3: 59,155,363 (GRCm39) Q1181P probably damaging Het
Mtrf1l T C 10: 5,767,454 (GRCm39) T221A probably benign Het
Muc21 T C 17: 35,930,953 (GRCm39) probably benign Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Naip5 T C 13: 100,359,883 (GRCm39) E451G probably benign Het
Naip5 T C 13: 100,359,902 (GRCm39) I445V probably benign Het
Nfrkb T A 9: 31,325,407 (GRCm39) L950Q possibly damaging Het
Nherf4 A T 9: 44,162,117 (GRCm39) probably null Het
Oplah A G 15: 76,181,476 (GRCm39) Y1155H probably damaging Het
Or5b105 T G 19: 13,079,790 (GRCm39) K287Q probably damaging Het
Pcnx1 C T 12: 81,965,018 (GRCm39) T395I probably damaging Het
Pitrm1 A G 13: 6,606,723 (GRCm39) H259R probably damaging Het
Pop1 A G 15: 34,508,926 (GRCm39) T334A probably benign Het
Prep T C 10: 44,968,894 (GRCm39) probably benign Het
Ptprz1 C A 6: 22,959,623 (GRCm39) probably benign Het
Sbsn A G 7: 30,455,390 (GRCm39) S170G probably damaging Het
Sco1 T G 11: 66,954,846 (GRCm39) S284A probably benign Het
Slc25a10 T A 11: 120,388,265 (GRCm39) M227K probably damaging Het
Trav7-6 A G 14: 53,954,638 (GRCm39) K56R probably benign Het
Ubr4 T G 4: 139,179,116 (GRCm39) C3322G probably damaging Het
Unc5a T C 13: 55,151,182 (GRCm39) Y608H probably damaging Het
Zfand1 A C 3: 10,405,816 (GRCm39) N262K probably benign Het
Zfp335 C T 2: 164,743,380 (GRCm39) R536H probably damaging Het
Other mutations in Pllp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0699:Pllp UTSW 8 95,422,660 (GRCm39) splice site probably null
R0830:Pllp UTSW 8 95,406,103 (GRCm39) missense probably damaging 1.00
R1385:Pllp UTSW 8 95,405,996 (GRCm39) missense probably benign 0.10
R4684:Pllp UTSW 8 95,403,906 (GRCm39) missense possibly damaging 0.92
R4853:Pllp UTSW 8 95,406,022 (GRCm39) missense probably damaging 1.00
R7451:Pllp UTSW 8 95,402,871 (GRCm39) missense probably damaging 1.00
R7815:Pllp UTSW 8 95,402,804 (GRCm39) missense probably damaging 1.00
R9411:Pllp UTSW 8 95,402,868 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATTTATGGAAGGTCAAGAGGTCCC -3'
(R):5'- GATGCCCAGCACAGATGTAAAC -3'

Sequencing Primer
(F):5'- TCAAGAGGTCCCGTCCTAG -3'
(R):5'- CCTGAGTTCCAGAATTGAATTCCGG -3'
Posted On 2015-04-30