Incidental Mutation 'R3845:Pltp'
ID 277312
Institutional Source Beutler Lab
Gene Symbol Pltp
Ensembl Gene ENSMUSG00000017754
Gene Name phospholipid transfer protein
Synonyms OD107, Bpife
MMRRC Submission 040893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R3845 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164681438-164699628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164696208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 135 (M135L)
Ref Sequence ENSEMBL: ENSMUSP00000119955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059954] [ENSMUST00000109316] [ENSMUST00000109317] [ENSMUST00000128110] [ENSMUST00000156255]
AlphaFold P55065
Predicted Effect probably benign
Transcript: ENSMUST00000059954
AA Change: M155L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000061519
Gene: ENSMUSG00000017754
AA Change: M155L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 25 243 5.93e-83 SMART
BPI2 258 460 1.35e-68 SMART
low complexity region 477 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109316
AA Change: M155L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104939
Gene: ENSMUSG00000017754
AA Change: M155L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 25 243 5.93e-83 SMART
BPI2 258 460 1.35e-68 SMART
low complexity region 477 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109317
SMART Domains Protein: ENSMUSP00000104940
Gene: ENSMUSG00000017754

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 25 191 1.77e-40 SMART
BPI2 206 408 1.35e-68 SMART
low complexity region 425 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128110
SMART Domains Protein: ENSMUSP00000122760
Gene: ENSMUSG00000017754

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 25 147 2.54e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148912
Predicted Effect probably benign
Transcript: ENSMUST00000156255
AA Change: M135L

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119955
Gene: ENSMUSG00000017754
AA Change: M135L

DomainStartEndE-ValueType
BPI1 10 164 3.7e-20 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have lower levels of circulating HDL and exhibit symptoms of dry eye syndrome such as corneal epithelial damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,669 (GRCm39) N185S probably benign Het
Apool A T X: 111,274,155 (GRCm39) probably benign Het
Atp4a A G 7: 30,416,540 (GRCm39) N439S probably null Het
AU041133 T A 10: 81,987,152 (GRCm39) H268Q probably damaging Het
Ccdc136 C T 6: 29,417,176 (GRCm39) R666W probably benign Het
Ccdc97 T C 7: 25,414,453 (GRCm39) probably benign Het
Celf1 T C 2: 90,839,583 (GRCm39) V336A possibly damaging Het
Chd3 T C 11: 69,237,585 (GRCm39) N1870D possibly damaging Het
Col5a3 C T 9: 20,719,673 (GRCm39) D229N unknown Het
Cpn1 G T 19: 43,962,523 (GRCm39) P142Q possibly damaging Het
Cubn T C 2: 13,287,819 (GRCm39) D3420G probably damaging Het
Cyp2u1 A G 3: 131,087,135 (GRCm39) F482S possibly damaging Het
Foxo1 T A 3: 52,253,701 (GRCm39) D621E probably benign Het
Grid2 A G 6: 64,322,826 (GRCm39) M609V possibly damaging Het
Hsd17b3 A T 13: 64,236,876 (GRCm39) F23I possibly damaging Het
Kcnk10 A G 12: 98,407,003 (GRCm39) I217T probably benign Het
Mis18bp1 G A 12: 65,195,916 (GRCm39) S616L possibly damaging Het
Mtch1 A T 17: 29,561,806 (GRCm39) F133I probably damaging Het
Myh4 T A 11: 67,149,931 (GRCm39) V1830E possibly damaging Het
Nav3 T C 10: 109,689,237 (GRCm39) M347V possibly damaging Het
Nbea A G 3: 55,993,713 (GRCm39) probably benign Het
Nhej1 A T 1: 75,008,042 (GRCm39) D76E probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or5m12 A C 2: 85,735,081 (GRCm39) C106G probably damaging Het
Pias3 T C 3: 96,609,526 (GRCm39) V307A probably benign Het
Plxna2 A G 1: 194,476,098 (GRCm39) Y1106C probably damaging Het
Pramel26 T C 4: 143,538,545 (GRCm39) E142G probably damaging Het
Ptgir G A 7: 16,641,311 (GRCm39) R201H probably damaging Het
Ptk7 A T 17: 46,897,344 (GRCm39) D329E probably benign Het
Pygl T C 12: 70,245,217 (GRCm39) D411G probably benign Het
Rev1 A T 1: 38,138,069 (GRCm39) M72K probably damaging Het
Sfrp1 T C 8: 23,902,264 (GRCm39) L155P probably damaging Het
Slc5a4a A G 10: 76,024,983 (GRCm39) E620G probably damaging Het
Smarca2 A G 19: 26,698,273 (GRCm39) I1314V probably benign Het
Tas2r109 G A 6: 132,957,766 (GRCm39) L55F probably damaging Het
Tek T A 4: 94,693,109 (GRCm39) C274S probably damaging Het
Tektl1 T C 10: 78,584,532 (GRCm39) N330S probably benign Het
Tent4b A T 8: 88,977,292 (GRCm39) I322F possibly damaging Het
Tmem38b T A 4: 53,859,905 (GRCm39) D228E probably benign Het
Topbp1 T C 9: 103,187,122 (GRCm39) V109A possibly damaging Het
Trbv5 A G 6: 41,039,682 (GRCm39) I96V probably benign Het
Trim16 T G 11: 62,727,498 (GRCm39) probably benign Het
Upf3a A T 8: 13,848,238 (GRCm39) T345S probably benign Het
Usp15 A G 10: 122,955,040 (GRCm39) S913P probably damaging Het
Vmn2r124 T A 17: 18,293,953 (GRCm39) V680D possibly damaging Het
Vmn2r91 G A 17: 18,327,860 (GRCm39) V485I probably benign Het
Zdbf2 A T 1: 63,347,483 (GRCm39) H1954L possibly damaging Het
Other mutations in Pltp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02697:Pltp APN 2 164,682,446 (GRCm39) missense probably benign 0.01
R0363:Pltp UTSW 2 164,682,056 (GRCm39) missense probably benign 0.03
R0446:Pltp UTSW 2 164,696,320 (GRCm39) missense probably damaging 1.00
R0496:Pltp UTSW 2 164,694,381 (GRCm39) unclassified probably benign
R6972:Pltp UTSW 2 164,688,512 (GRCm39) critical splice donor site probably null
R7365:Pltp UTSW 2 164,696,242 (GRCm39) missense probably damaging 1.00
R7663:Pltp UTSW 2 164,698,926 (GRCm39) splice site probably null
R8725:Pltp UTSW 2 164,696,301 (GRCm39) missense probably damaging 0.98
R8727:Pltp UTSW 2 164,696,301 (GRCm39) missense probably damaging 0.98
R8762:Pltp UTSW 2 164,686,652 (GRCm39) missense possibly damaging 0.93
R9018:Pltp UTSW 2 164,694,410 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CACAGTGCTCACAAGTATCTGC -3'
(R):5'- ACGTCAGTTATCTCCCACTGG -3'

Sequencing Primer
(F):5'- ATTCTCTGAGCGTCAGTGAC -3'
(R):5'- TCCATCCGAACAGGTCTA -3'
Posted On 2015-04-06