Incidental Mutation 'R9411:Pllp'
ID 711810
Institutional Source Beutler Lab
Gene Symbol Pllp
Ensembl Gene ENSMUSG00000031775
Gene Name plasma membrane proteolipid
Synonyms Tm4sf11, 0610010I06Rik, plasmolipin
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R9411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 95401523-95422870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95402868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 158 (A158T)
Ref Sequence ENSEMBL: ENSMUSP00000034227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034227] [ENSMUST00000034228] [ENSMUST00000109527] [ENSMUST00000211858] [ENSMUST00000213043]
AlphaFold Q9DCU2
Predicted Effect probably benign
Transcript: ENSMUST00000034227
AA Change: A158T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000034227
Gene: ENSMUSG00000031775
AA Change: A158T

DomainStartEndE-ValueType
Pfam:MARVEL 32 160 6.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034228
SMART Domains Protein: ENSMUSP00000034228
Gene: ENSMUSG00000031776

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 20 134 3.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109527
SMART Domains Protein: ENSMUSP00000105153
Gene: ENSMUSG00000031776

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 5 125 1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211858
Predicted Effect possibly damaging
Transcript: ENSMUST00000213043
AA Change: A78T

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,919,919 (GRCm39) A285T probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg7 T A 6: 114,690,289 (GRCm39) M650K probably benign Het
B020011L13Rik G A 1: 117,729,246 (GRCm39) G251E probably benign Het
Bhlha9 T C 11: 76,564,018 (GRCm39) V215A probably benign Het
Bmal1 C A 7: 112,907,837 (GRCm39) S513* probably null Het
C2cd3 T C 7: 100,065,704 (GRCm39) V452A Het
Cd55 G A 1: 130,368,114 (GRCm39) H370Y probably benign Het
Col6a1 A G 10: 76,547,487 (GRCm39) V662A unknown Het
Crocc A G 4: 140,749,577 (GRCm39) probably null Het
Cspg4b T A 13: 113,504,767 (GRCm39) N1965K Het
Dnah1 C T 14: 31,018,256 (GRCm39) V1421M probably damaging Het
Eid3 T G 10: 82,703,652 (GRCm39) I371S probably damaging Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Fshr T C 17: 89,293,148 (GRCm39) Y510C probably damaging Het
Garem1 C T 18: 21,369,057 (GRCm39) probably null Het
Gcn1 C T 5: 115,733,098 (GRCm39) T1045M possibly damaging Het
Ggt6 T A 11: 72,326,560 (GRCm39) L39H probably damaging Het
Glrb T C 3: 80,767,610 (GRCm39) probably null Het
Gpr171 T A 3: 59,005,311 (GRCm39) K155* probably null Het
Has2 T A 15: 56,531,306 (GRCm39) T470S possibly damaging Het
Ighv1-34 C T 12: 114,815,070 (GRCm39) V31M probably damaging Het
Kdm2a A T 19: 4,412,835 (GRCm39) N50K probably damaging Het
Mfsd9 C T 1: 40,829,692 (GRCm39) V30M probably damaging Het
Msra A G 14: 64,471,331 (GRCm39) I126T probably benign Het
Nkd2 G A 13: 73,969,330 (GRCm39) L379F probably benign Het
Nr2f2 A C 7: 70,007,525 (GRCm39) V319G Het
Ntng2 A T 2: 29,138,048 (GRCm39) L2Q probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pcnt T C 10: 76,258,896 (GRCm39) E523G probably damaging Het
Plxna4 A G 6: 32,159,682 (GRCm39) S1431P probably damaging Het
Pramel16 A T 4: 143,676,215 (GRCm39) F296L probably damaging Het
Pramel31 A G 4: 144,089,997 (GRCm39) I346V probably benign Het
Prpf40a T C 2: 53,029,200 (GRCm39) D951G unknown Het
Retn G A 8: 3,707,378 (GRCm39) A113T probably benign Het
Rexo1 G T 10: 80,397,248 (GRCm39) R3S Het
Rras T A 7: 44,669,979 (GRCm39) I137N possibly damaging Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sntb2 A G 8: 107,737,931 (GRCm39) D493G probably damaging Het
Socs5 T C 17: 87,442,521 (GRCm39) I487T possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Suco T A 1: 161,666,356 (GRCm39) I515F probably damaging Het
Syn2 T C 6: 115,231,152 (GRCm39) V269A possibly damaging Het
Tmbim6 T C 15: 99,304,501 (GRCm39) L186P probably damaging Het
Tmem234 T C 4: 129,495,988 (GRCm39) Y57H probably damaging Het
Tnik C A 3: 28,684,754 (GRCm39) P861T probably damaging Het
Tns1 A G 1: 73,992,662 (GRCm39) L45P probably damaging Het
Veph1 T A 3: 65,995,238 (GRCm39) D671V possibly damaging Het
Vwc2l A T 1: 70,767,980 (GRCm39) I15F probably benign Het
Zdbf2 A T 1: 63,343,288 (GRCm39) N556Y probably damaging Het
Zfp202 T A 9: 40,118,878 (GRCm39) V97D probably damaging Het
Zfp800 T C 6: 28,243,430 (GRCm39) I512V possibly damaging Het
Zkscan2 T C 7: 123,084,405 (GRCm39) D573G 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
R4020:Pllp UTSW 8 95,406,072 (GRCm39) missense possibly damaging 0.95
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
Predicted Primers PCR Primer
(F):5'- TTGGCCAGTTCCATCTGTGC -3'
(R):5'- CAGAACAAGTGGCTCTGATTAAC -3'

Sequencing Primer
(F):5'- AGTGTAGGCCAGTTCCTCAG -3'
(R):5'- TGGCTCTGATTAACCCAAGG -3'
Posted On 2022-05-16