Incidental Mutation 'R8385:Ttpa'
ID 647102
Institutional Source Beutler Lab
Gene Symbol Ttpa
Ensembl Gene ENSMUSG00000073988
Gene Name tocopherol (alpha) transfer protein
Synonyms alpha TTP, alpha-TTP
MMRRC Submission 067751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R8385 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 20007938-20030785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20028483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 247 (G247S)
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: G247S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095845
Gene: ENSMUSG00000073988
AA Change: G247S

DomainStartEndE-ValueType
CRAL_TRIO_N 48 73 1.64e-6 SMART
SEC14 95 250 1.47e-39 SMART
Predicted Effect silent
Transcript: ENSMUST00000117632
SMART Domains Protein: ENSMUSP00000113026
Gene: ENSMUSG00000073988

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: G178S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113966
Gene: ENSMUSG00000073988
AA Change: G178S

DomainStartEndE-ValueType
SEC14 26 181 1.47e-39 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brap C T 5: 121,823,197 (GRCm39) T473I probably benign Het
Cacna1e T A 1: 154,319,687 (GRCm39) M1400L probably damaging Het
Catsper2 A G 2: 121,240,621 (GRCm39) I127T possibly damaging Het
Dbt A T 3: 116,317,039 (GRCm39) I72F probably damaging Het
Ddhd2 T C 8: 26,225,041 (GRCm39) H592R probably damaging Het
Disp2 T A 2: 118,620,891 (GRCm39) M541K probably damaging Het
Dnai7 C T 6: 145,120,918 (GRCm39) E685K probably damaging Het
Dnmbp T C 19: 43,878,090 (GRCm39) D327G probably benign Het
Dvl1 A G 4: 155,940,037 (GRCm39) S390G possibly damaging Het
Fbxo22 A G 9: 55,121,233 (GRCm39) D106G probably damaging Het
Gfm2 A G 13: 97,301,519 (GRCm39) T441A probably benign Het
Gm5431 T C 11: 48,780,347 (GRCm39) I192V probably damaging Het
Gosr1 T A 11: 76,620,967 (GRCm39) T241S possibly damaging Het
Hk2 T C 6: 82,706,527 (GRCm39) S792G probably benign Het
Itsn1 A C 16: 91,690,699 (GRCm39) K1302Q unknown Het
Kif16b T C 2: 142,554,258 (GRCm39) K847E probably benign Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Mark3 A G 12: 111,621,808 (GRCm39) D650G possibly damaging Het
Mgat4f A G 1: 134,318,376 (GRCm39) K383E probably benign Het
Mob3b T C 4: 34,985,980 (GRCm39) Y186C probably damaging Het
Mphosph9 T C 5: 124,450,785 (GRCm39) K329E probably benign Het
Mta1 A T 12: 113,095,085 (GRCm39) M448L probably benign Het
Mterf1a A T 5: 3,941,384 (GRCm39) N161K probably damaging Het
Myo10 T A 15: 25,804,484 (GRCm39) I1593N probably damaging Het
Naca A G 10: 127,878,307 (GRCm39) N1113S unknown Het
Or2w4 T C 13: 21,795,522 (GRCm39) I206V probably benign Het
Or5e1 T G 7: 108,354,511 (GRCm39) Y149* probably null Het
Pcdhga1 A T 18: 37,795,149 (GRCm39) D51V probably damaging Het
Peg3 T C 7: 6,711,082 (GRCm39) E1380G probably damaging Het
Pkd1 G A 17: 24,794,702 (GRCm39) V2130M possibly damaging Het
Pla2g4c C T 7: 13,063,589 (GRCm39) P19S probably benign Het
Popdc2 G A 16: 38,183,262 (GRCm39) V82I probably benign Het
Ppfibp2 A G 7: 107,296,894 (GRCm39) R203G probably benign Het
Rab19 T A 6: 39,360,892 (GRCm39) N13K probably benign Het
Raet1d T A 10: 22,246,817 (GRCm39) D48E probably benign Het
Rell1 T A 5: 64,087,861 (GRCm39) K136* probably null Het
Slc38a4 A G 15: 96,897,393 (GRCm39) I474T probably damaging Het
Slf1 T C 13: 77,254,109 (GRCm39) M243V probably benign Het
Spata31f1a C T 4: 42,850,509 (GRCm39) R549H possibly damaging Het
Speer4c2 A T 5: 15,857,669 (GRCm39) S203T unknown Het
Spg11 A T 2: 121,927,802 (GRCm39) S661T probably benign Het
Thra C G 11: 98,659,177 (GRCm39) S435R probably benign Het
Tmem181a T C 17: 6,339,274 (GRCm39) I61T probably benign Het
Usp17lb C T 7: 104,489,830 (GRCm39) V366I possibly damaging Het
Vit A T 17: 78,927,066 (GRCm39) Q337L probably benign Het
Vmn2r102 A G 17: 19,914,088 (GRCm39) Y551C possibly damaging Het
Vps52 T C 17: 34,181,791 (GRCm39) L539P probably damaging Het
Ythdc1 C A 5: 86,975,961 (GRCm39) P529T possibly damaging Het
Zdhhc13 T C 7: 48,455,444 (GRCm39) probably null Het
Zfp282 A T 6: 47,882,023 (GRCm39) Y570F possibly damaging Het
Zfp872 A T 9: 22,111,407 (GRCm39) K295N probably damaging 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
R8068:Ttpa UTSW 4 20,028,419 (GRCm39) missense probably damaging 1.00
R8242:Ttpa UTSW 4 20,028,511 (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'- AAGCAACGTTCTTGGGTTCTAG -3'
(R):5'- AGGTTTGCCCTTTAGTTTAGAAACC -3'

Sequencing Primer
(F):5'- CTTGGGTTCTAGAGCAGAAAAATC -3'
(R):5'- GCCCTTTAGTTTAGAAACCAGATAGG -3'
Posted On 2020-09-02