Incidental Mutation 'R3950:Pctp'
ID 307888
Institutional Source Beutler Lab
Gene Symbol Pctp
Ensembl Gene ENSMUSG00000020553
Gene Name phosphatidylcholine transfer protein
Synonyms PC-TP, StarD2
MMRRC Submission 040930-MU
Accession Numbers

Ncbi RefSeq: NM_008796.2; MGI:107375
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock # R3950 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 89982665-90002894 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89987318 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 130 (I130T)
Ref Sequence ENSEMBL: ENSMUSP00000020864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020864]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020864
AA Change: I130T

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020864
Gene: ENSMUSG00000020553
AA Change: I130T

DomainStartEndE-ValueType
START 10 213 8.11e-52 SMART
Meta Mutation Damage Score 0.2660 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display impaired biliary lipid secretion in response to a lithogenic diet, and show altered adaptive responses of macrophages to cholesterol loading. Mice heterozygous for a spontaneous allele show lack of phosphatidylcholine transfer protein activity. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(3) Spontaneous(1) 
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,664,403 probably null Het
Ahnak2 A T 12: 112,785,789 I186N probably damaging Het
Appbp2 A G 11: 85,194,706 I458T probably damaging Het
Arhgef25 T C 10: 127,185,144 Y291C probably damaging Het
Ate1 T C 7: 130,467,292 Y415C probably damaging Het
B4galt4 G T 16: 38,768,022 A72S probably benign Het
C3 T C 17: 57,225,286 R178G probably benign Het
Cdh23 T C 10: 60,657,326 Y3C probably benign Het
Col11a1 T C 3: 114,121,445 probably null Het
Col22a1 A G 15: 71,977,358 F294L possibly damaging Het
Dera A G 6: 137,837,120 Y100C probably damaging Het
Dync2h1 A T 9: 7,112,061 Y276* probably null Het
Eea1 A T 10: 96,042,134 N1389I probably damaging Het
Epha4 A T 1: 77,399,716 Y509N probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Fezf1 T A 6: 23,247,420 K219* probably null Het
Fsd1 G A 17: 55,995,517 probably null Het
Haspin A G 11: 73,136,395 Y623H probably damaging Het
Hsd3b1 C T 3: 98,856,138 V56M possibly damaging Het
Hyou1 C T 9: 44,385,227 T483I probably damaging Het
Kdm2a A G 19: 4,343,232 L365S possibly damaging Het
Kdm6b G T 11: 69,405,615 P609T probably damaging Het
Klhl18 T A 9: 110,428,902 Y490F probably damaging Het
Ky C T 9: 102,542,428 Q545* probably null Het
L1td1 T C 4: 98,737,353 L595P probably benign Het
Map3k20 T G 2: 72,438,300 I550M probably damaging Het
Mug1 T A 6: 121,878,530 V941E probably damaging Het
Ndst1 T C 18: 60,697,139 N633S probably benign Het
Ninl A T 2: 150,952,488 I740K possibly damaging Het
Npepl1 A G 2: 174,121,113 N431D probably damaging Het
Olfr1128 T C 2: 87,545,065 T160A probably damaging Het
Pacs2 T C 12: 113,061,113 S408P probably damaging Het
Pard6b C T 2: 168,099,194 T367I probably damaging Het
Pcdhga7 A G 18: 37,716,515 E525G probably damaging Het
Pcx C T 19: 4,617,967 H506Y probably benign Het
Pdhx A G 2: 103,035,241 S199P probably damaging Het
Pdia2 C A 17: 26,197,616 probably null Het
Pif1 C A 9: 65,591,834 N445K probably damaging Het
Prickle4 T C 17: 47,688,582 K349E probably benign Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Ptpdc1 A T 13: 48,589,194 M173K probably damaging Het
Rb1 A G 14: 73,262,662 L515P probably damaging Het
Rcvrn A G 11: 67,700,051 K154E probably damaging Het
Ros1 C T 10: 52,066,388 V2059I probably damaging Het
Rtn4ip1 T A 10: 43,909,897 probably null Het
Sema5a T C 15: 32,689,338 Y1050H probably damaging Het
Slc25a28 C T 19: 43,664,269 V318I probably benign Het
Srek1 G A 13: 103,744,895 R408W unknown Het
Synrg C T 11: 83,989,815 T444I probably damaging Het
Ticrr T C 7: 79,682,069 L776S probably damaging Het
Tmem127 T C 2: 127,248,657 L31P probably damaging Het
Tmprss15 T A 16: 79,073,186 T190S probably benign Het
Trip10 T A 17: 57,253,411 probably null Het
Ttc6 A G 12: 57,649,506 Y31C probably damaging Het
Unc80 A T 1: 66,622,570 H1718L possibly damaging Het
Zbtb38 A G 9: 96,687,546 F495S probably damaging Het
Zfp280d G T 9: 72,296,019 Q16H possibly damaging Het
Zfp521 A G 18: 13,846,346 S337P probably damaging Het
Zswim9 T A 7: 13,261,577 T218S possibly damaging Het
Other mutations in Pctp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:Pctp APN 11 89988726 missense probably damaging 1.00
IGL01918:Pctp APN 11 89987336 missense probably benign 0.19
IGL02799:Pctp UTSW 11 89991087 missense probably damaging 1.00
R0393:Pctp UTSW 11 89986119 missense probably benign 0.08
R1240:Pctp UTSW 11 90002814 missense probably benign 0.01
R1602:Pctp UTSW 11 89988735 missense probably damaging 1.00
R4563:Pctp UTSW 11 89988752 missense probably benign 0.03
R4703:Pctp UTSW 11 89987273 missense possibly damaging 0.91
R5958:Pctp UTSW 11 89986119 missense probably benign 0.08
R6218:Pctp UTSW 11 89987318 missense probably benign 0.26
R8942:Pctp UTSW 11 89984728 missense possibly damaging 0.86
R9369:Pctp UTSW 11 89986112 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTGCCTCCTACTCAAATG -3'
(R):5'- AGGTAACAGGCACTCTCCAG -3'

Sequencing Primer
(F):5'- TCAAATGGCACTGGCTTAGC -3'
(R):5'- CTCCAGTGAGAATTACCGTTGACTG -3'
Posted On 2015-04-17