Incidental Mutation 'IGL01361:Pctp'
ID75753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pctp
Ensembl Gene ENSMUSG00000020553
Gene Namephosphatidylcholine transfer protein
SynonymsPC-TP, StarD2
Accession Numbers

Ncbi RefSeq: NM_008796.2; MGI:107375

Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01361
Quality Score
Status
Chromosome11
Chromosomal Location89982665-90002894 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89988726 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 103 (V103A)
Ref Sequence ENSEMBL: ENSMUSP00000020864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020864]
Predicted Effect probably damaging
Transcript: ENSMUST00000020864
AA Change: V103A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020864
Gene: ENSMUSG00000020553
AA Change: V103A

DomainStartEndE-ValueType
START 10 213 8.11e-52 SMART
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,596,706 probably benign Het
C1qtnf3 G A 15: 10,960,682 G157D probably damaging Het
Cacna1b T C 2: 24,679,095 E940G possibly damaging Het
Camta1 A G 4: 151,144,692 L561P probably damaging Het
Car15 T C 16: 17,837,854 Y27C probably damaging Het
Catsper1 G T 19: 5,339,479 S474I probably damaging Het
Cps1 A G 1: 67,195,145 D897G probably benign Het
Crtc1 A G 8: 70,387,603 L540P probably damaging Het
Fdps A G 3: 89,094,442 probably benign Het
Gprc6a A G 10: 51,615,430 I741T probably damaging Het
Hdac7 A C 15: 97,811,442 M47R possibly damaging Het
Kalrn T C 16: 34,175,722 probably benign Het
Kat14 C A 2: 144,406,620 probably null Het
Kcnu1 T C 8: 25,886,768 V390A possibly damaging Het
Kdm5a T A 6: 120,399,016 Y578N probably damaging Het
Lrp1b T C 2: 41,110,751 probably benign Het
Mpc2 G T 1: 165,479,523 A98S probably benign Het
Nek10 T C 14: 14,850,957 I334T probably damaging Het
Nufip2 T A 11: 77,692,370 V370E possibly damaging Het
Nup160 C A 2: 90,684,012 Y101* probably null Het
Obscn T A 11: 59,028,889 Y6174F probably damaging Het
Omp A T 7: 98,145,282 I46N probably benign Het
Pcbp4 A T 9: 106,463,249 probably null Het
Pla2r1 A G 2: 60,479,470 Y590H probably damaging Het
Ppfibp2 T C 7: 107,744,301 probably null Het
Reln G A 5: 21,919,021 T2829M probably benign Het
Sh3yl1 T A 12: 30,939,564 probably benign Het
Sipa1l3 A T 7: 29,348,687 Y210N probably damaging Het
Slc33a1 C A 3: 63,943,412 C497F probably damaging Het
Srp9 G A 1: 182,131,337 C25Y probably damaging Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Usf3 C A 16: 44,212,637 probably null Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Vps13a C T 19: 16,743,007 A405T probably damaging Het
Zan A T 5: 137,414,342 probably benign Het
Zcchc6 A T 13: 59,785,800 I894K probably damaging Het
Other mutations in Pctp
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3950:Pctp UTSW 11 89987318 missense probably benign 0.26
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
Posted On2013-10-07