Incidental Mutation 'R0446:Pltp'
ID 39356
Institutional Source Beutler Lab
Gene Symbol Pltp
Ensembl Gene ENSMUSG00000017754
Gene Name phospholipid transfer protein
Synonyms OD107, Bpife
MMRRC Submission 038647-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R0446 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164681438-164699628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164696320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 97 (N97K)
Ref Sequence ENSEMBL: ENSMUSP00000119955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059954] [ENSMUST00000109316] [ENSMUST00000109317] [ENSMUST00000128110] [ENSMUST00000156255]
AlphaFold P55065
Predicted Effect probably damaging
Transcript: ENSMUST00000059954
AA Change: N117K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061519
Gene: ENSMUSG00000017754
AA Change: N117K

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 damaging
Transcript: ENSMUST00000109316
AA Change: N117K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104939
Gene: ENSMUSG00000017754
AA Change: N117K

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 possibly damaging
Transcript: ENSMUST00000128110
AA Change: N117K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122760
Gene: ENSMUSG00000017754
AA Change: N117K

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 damaging
Transcript: ENSMUST00000156255
AA Change: N97K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119955
Gene: ENSMUSG00000017754
AA Change: N97K

DomainStartEndE-ValueType
BPI1 10 164 3.7e-20 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,971,766 (GRCm39) T42A probably benign Het
Actr3b T A 5: 26,036,730 (GRCm39) I181K probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
B3galt4 T C 17: 34,169,992 (GRCm39) E82G probably benign Het
Bag1 G A 4: 40,936,609 (GRCm39) T349I probably benign Het
Brip1 A T 11: 86,048,427 (GRCm39) L305Q probably damaging Het
Cdipt A G 7: 126,577,436 (GRCm39) T61A probably damaging Het
Cmya5 T A 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cog7 T C 7: 121,536,295 (GRCm39) D515G probably benign Het
Cpsf4 T A 5: 145,114,054 (GRCm39) L171Q probably damaging Het
Cstpp1 G A 2: 91,135,109 (GRCm39) T20I possibly damaging Het
Cuzd1 A T 7: 130,918,009 (GRCm39) probably null Het
Dapk1 T A 13: 60,873,101 (GRCm39) probably null Het
Diaph1 A G 18: 37,986,643 (GRCm39) V1114A possibly damaging Het
Emx2 A T 19: 59,452,348 (GRCm39) K211* probably null Het
Fam170a T A 18: 50,413,699 (GRCm39) C55S possibly damaging Het
Fbxw26 A G 9: 109,572,788 (GRCm39) S119P probably benign Het
Fhip2a G A 19: 57,369,839 (GRCm39) D461N probably benign Het
Fryl G A 5: 73,254,760 (GRCm39) T894M possibly damaging Het
Gad1-ps C A 10: 99,281,383 (GRCm39) noncoding transcript Het
Gss T C 2: 155,409,665 (GRCm39) E257G probably benign Het
Klhdc1 A C 12: 69,330,082 (GRCm39) S404R probably benign Het
Kmt2e T A 5: 23,702,532 (GRCm39) probably null Het
Krt20 G A 11: 99,328,602 (GRCm39) Q108* probably null Het
Lmnb1 T A 18: 56,876,331 (GRCm39) S480T probably benign Het
Lyst T A 13: 13,812,633 (GRCm39) M1015K probably benign Het
Mdm1 T G 10: 117,987,961 (GRCm39) S290A probably benign Het
Mkln1 T A 6: 31,426,439 (GRCm39) F238I probably damaging Het
Mrgprb3 A G 7: 48,292,984 (GRCm39) V189A probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Neurod6 C T 6: 55,656,614 (GRCm39) E8K probably benign Het
Nlrp12 T C 7: 3,282,659 (GRCm39) I747V probably benign Het
Notch4 C T 17: 34,784,337 (GRCm39) R43W possibly damaging Het
Obscn A T 11: 58,886,238 (GRCm39) probably benign Het
Or10d3 A T 9: 39,461,747 (GRCm39) I140N probably damaging Het
Or5p57 A T 7: 107,665,932 (GRCm39) Y24* probably null Het
Or5w20 T C 2: 87,727,199 (GRCm39) Y219H possibly damaging Het
Or6ae1 A T 7: 139,742,384 (GRCm39) S160T probably damaging Het
Or6z5 T C 7: 6,478,024 (GRCm39) V305A probably benign Het
Or8b53 G T 9: 38,667,114 (GRCm39) L43F probably damaging Het
Orc5 C T 5: 22,751,455 (GRCm39) V85I probably benign Het
Pccb T C 9: 100,864,850 (GRCm39) D468G probably damaging Het
Pdzd2 A T 15: 12,375,110 (GRCm39) V1675E probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Polr1a T C 6: 71,927,648 (GRCm39) probably null Het
Prss42 G A 9: 110,628,341 (GRCm39) V162I possibly damaging Het
Rbfox2 A T 15: 76,983,455 (GRCm39) Y269N probably damaging Het
Rftn2 A T 1: 55,253,354 (GRCm39) I83K probably damaging Het
S1pr4 A T 10: 81,334,823 (GRCm39) I217N probably damaging Het
Slc23a2 T C 2: 131,920,353 (GRCm39) K184R probably benign Het
Slc6a19 T C 13: 73,839,814 (GRCm39) N156S probably benign Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tbc1d32 T A 10: 56,068,994 (GRCm39) H358L possibly damaging Het
Tex55 G A 16: 38,649,064 (GRCm39) T15I probably benign Het
Tigit G T 16: 43,482,634 (GRCm39) N33K probably damaging Het
Tmem25 T C 9: 44,707,878 (GRCm39) Y139C probably damaging Het
Trmt13 G A 3: 116,376,275 (GRCm39) T372M probably damaging Het
Ubr2 A T 17: 47,294,224 (GRCm39) M303K probably damaging Het
Usp34 A G 11: 23,417,207 (GRCm39) E2952G probably damaging Het
Zan T A 5: 137,389,920 (GRCm39) I4851F unknown Het
Zfand4 C T 6: 116,265,015 (GRCm39) T160I probably benign Het
Zfp1005 A G 2: 150,109,993 (GRCm39) T228A 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
R0496:Pltp UTSW 2 164,694,381 (GRCm39) unclassified probably benign
R3845:Pltp UTSW 2 164,696,208 (GRCm39) missense probably benign 0.08
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'- AAATTGAACTGTGGGGCTCAGGAC -3'
(R):5'- GCTGCTGAACATCTCCAACGCATC -3'

Sequencing Primer
(F):5'- CCCCGAAGGCCATATTCATT -3'
(R):5'- cccattctccacttcataacttc -3'
Posted On 2013-05-23