Incidental Mutation 'R8068:Ttpa'
ID 620096
Institutional Source Beutler Lab
Gene Symbol Ttpa
Ensembl Gene ENSMUSG00000073988
Gene Name tocopherol (alpha) transfer protein
Synonyms alpha TTP, alpha-TTP
MMRRC Submission 067503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R8068 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 20007938-20030785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20028419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 225 (H225Q)
Ref Sequence ENSEMBL: ENSMUSP00000095845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098244] [ENSMUST00000117632] [ENSMUST00000121491]
AlphaFold Q8BWP5
PDB Structure Crystal structure of mouse alpha-tocopherol transfer protein in complex with alpha-tocopherol and phosphatidylinositol-(3,4)-bisphosphate [X-RAY DIFFRACTION]
Crystal structure of mouse alpha-tocopherol transfer protein in complex with alpha-tocopherol and phosphatidylinositol-(4,5)-bisphosphate [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000098244
AA Change: H225Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095845
Gene: ENSMUSG00000073988
AA Change: H225Q

DomainStartEndE-ValueType
CRAL_TRIO_N 48 73 1.64e-6 SMART
SEC14 95 250 1.47e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117632
AA Change: T225K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113026
Gene: ENSMUSG00000073988
AA Change: T225K

DomainStartEndE-ValueType
CRAL_TRIO_N 48 73 1.64e-6 SMART
SEC14 95 247 1.87e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121491
AA Change: H156Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113966
Gene: ENSMUSG00000073988
AA Change: H156Q

DomainStartEndE-ValueType
SEC14 26 181 1.47e-39 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit vitamin E deficiency. Placentas from pregnant females have reduced labyrinthine trophoblasts resulting in midgestational embryonic lethality. Homozygotes for one targeted null allele display late-onset ataxia and retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 41,278,975 (GRCm39) D455E not run Het
Aldoc T C 11: 78,215,553 (GRCm39) F79S possibly damaging Het
Atmin A G 8: 117,683,389 (GRCm39) S350G probably benign Het
Bms1 A G 6: 118,390,711 (GRCm39) F206S probably damaging Het
Carmil1 T A 13: 24,259,711 (GRCm39) I698L probably benign Het
Cd47 T A 16: 49,715,779 (GRCm39) S182T Het
Ces2e G T 8: 105,659,629 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,229 (GRCm39) S373G not run Het
Cit C A 5: 116,090,525 (GRCm39) H906Q probably damaging Het
Cit T C 5: 116,120,294 (GRCm39) S1370P probably benign Het
Dchs2 T C 3: 83,207,745 (GRCm39) F1739L probably benign Het
Dlx4 T C 11: 95,036,156 (GRCm39) Y51C possibly damaging Het
Drosha T A 15: 12,883,276 (GRCm39) Y796* probably null Het
Elf1 T A 14: 79,773,830 (GRCm39) F14I probably benign Het
Fam135b T C 15: 71,404,827 (GRCm39) Q73R probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gls2 C G 10: 128,030,983 (GRCm39) R81G unknown Het
Hnrnpll T C 17: 80,358,281 (GRCm39) M157V possibly damaging Het
Itgb3 T A 11: 104,556,337 (GRCm39) M726K probably benign Het
Kcna10 T G 3: 107,101,726 (GRCm39) M119R possibly damaging Het
Kcnh1 A G 1: 191,924,250 (GRCm39) T155A probably benign Het
Kctd9 T A 14: 67,962,111 (GRCm39) D51E unknown Het
Lgr6 T C 1: 134,991,402 (GRCm39) I129V probably benign Het
Lrrfip1 A T 1: 91,055,824 (GRCm39) D598V probably damaging Het
Ltbp4 G T 7: 27,023,593 (GRCm39) Q850K probably damaging Het
Mdm1 A G 10: 117,982,709 (GRCm39) R115G possibly damaging Het
Mns1 A C 9: 72,355,809 (GRCm39) probably null Het
Mthfs G A 9: 89,093,288 (GRCm39) R14Q probably damaging Het
Muc2 T A 7: 141,298,422 (GRCm39) S25T Het
Ncapd3 T C 9: 26,974,657 (GRCm39) S710P possibly damaging Het
Nrip1 T A 16: 76,089,841 (GRCm39) H572L possibly damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Opa3 A G 7: 18,978,910 (GRCm39) E125G probably damaging Het
Or52p1 T A 7: 104,267,460 (GRCm39) C191* probably null Het
Or5ap2 A G 2: 85,680,150 (GRCm39) E118G probably damaging Het
Or5w19 A G 2: 87,698,995 (GRCm39) Y220C probably benign Het
P3h1 A G 4: 119,094,059 (GRCm39) Y238C probably damaging Het
Pappa2 T C 1: 158,763,555 (GRCm39) D652G possibly damaging Het
Pcdha11 T A 18: 37,138,618 (GRCm39) N82K probably damaging Het
Pde4b T C 4: 102,453,212 (GRCm39) I293T probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Qki T C 17: 10,537,732 (GRCm39) D24G possibly damaging Het
Rbpjl A G 2: 164,250,438 (GRCm39) K197E possibly damaging Het
Rnf111 A T 9: 70,365,223 (GRCm39) S415T probably benign Het
Scyl1 A G 19: 5,810,853 (GRCm39) V488A probably damaging Het
Slc1a6 G C 10: 78,648,706 (GRCm39) V476L possibly damaging Het
Slc22a17 A T 14: 55,146,365 (GRCm39) F84I probably benign Het
Slc22a4 A C 11: 53,888,269 (GRCm39) I253S possibly damaging Het
Speer2 T C 16: 69,657,412 (GRCm39) H77R possibly damaging Het
Speg T C 1: 75,398,894 (GRCm39) S2114P probably damaging Het
Synpo2 T A 3: 122,911,041 (GRCm39) R201S possibly damaging Het
Vmn1r45 A T 6: 89,910,261 (GRCm39) H236Q possibly damaging Het
Vmn2r7 A T 3: 64,623,507 (GRCm39) V271D probably benign Het
Zfp53 A T 17: 21,729,274 (GRCm39) T436S probably benign Het
Other mutations in Ttpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02932:Ttpa APN 4 20,021,215 (GRCm39) missense possibly damaging 0.83
R0190:Ttpa UTSW 4 20,021,260 (GRCm39) missense probably damaging 1.00
R1950:Ttpa UTSW 4 20,008,633 (GRCm39) missense probably damaging 1.00
R2171:Ttpa UTSW 4 20,021,357 (GRCm39) missense probably damaging 1.00
R4362:Ttpa UTSW 4 20,023,827 (GRCm39) nonsense probably null
R5344:Ttpa UTSW 4 20,021,245 (GRCm39) missense probably damaging 0.97
R6111:Ttpa UTSW 4 20,014,772 (GRCm39) missense probably damaging 0.99
R8242:Ttpa UTSW 4 20,028,511 (GRCm39) missense probably damaging 1.00
R8385:Ttpa UTSW 4 20,028,483 (GRCm39) missense probably damaging 1.00
R8692:Ttpa UTSW 4 20,008,585 (GRCm39) missense probably benign 0.05
R8905:Ttpa UTSW 4 20,028,435 (GRCm39) missense probably benign 0.10
R9151:Ttpa UTSW 4 20,008,401 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CTAACGTGGGTACAAGTTGTATG -3'
(R):5'- GGAAATAACTTCTCATTGGATGGTCTC -3'

Sequencing Primer
(F):5'- TGATTCACAGCAGCATAATCTAAAG -3'
(R):5'- CTCATTGGATGGTCTCAGAAATGC -3'
Posted On 2020-01-23