Incidental Mutation 'R5163:Gltp'
ID 397094
Institutional Source Beutler Lab
Gene Symbol Gltp
Ensembl Gene ENSMUSG00000011884
Gene Name glycolipid transfer protein
Synonyms 1110001F24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R5163 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 114807551-114828996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114812122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 147 (I147T)
Ref Sequence ENSEMBL: ENSMUSP00000012028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012028] [ENSMUST00000112212] [ENSMUST00000112214]
AlphaFold Q9JL62
Predicted Effect probably benign
Transcript: ENSMUST00000012028
AA Change: I147T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000012028
Gene: ENSMUSG00000011884
AA Change: I147T

DomainStartEndE-ValueType
Pfam:GLTP 16 169 4.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112212
AA Change: I128T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000107831
Gene: ENSMUSG00000011884
AA Change: I128T

DomainStartEndE-ValueType
Pfam:GLTP 16 83 6e-18 PFAM
Pfam:GLTP 79 150 3.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112214
AA Change: I117T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107833
Gene: ENSMUSG00000011884
AA Change: I117T

DomainStartEndE-ValueType
Pfam:GLTP 16 80 2.1e-16 PFAM
Pfam:GLTP 72 139 9.4e-18 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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 similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Btbd19 T G 4: 116,978,628 (GRCm39) I152L probably damaging Het
Dnaaf11 T C 15: 66,314,067 (GRCm39) D311G probably benign Het
Dync2i1 C T 12: 116,219,486 (GRCm39) R152H possibly damaging Het
Ercc6l2 A G 13: 64,046,845 (GRCm39) probably benign Het
Fat4 A G 3: 39,034,946 (GRCm39) D2866G probably damaging Het
Fkbp10 C T 11: 100,313,925 (GRCm39) A311V probably benign Het
Fnbp1l T C 3: 122,338,312 (GRCm39) N511S probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr37 A T 6: 25,669,614 (GRCm39) I410N possibly damaging Het
Hivep2 G A 10: 14,015,169 (GRCm39) G1779R probably damaging Het
Ifna14 T C 4: 88,489,599 (GRCm39) Y146C probably damaging Het
Loxhd1 A G 18: 77,449,432 (GRCm39) D662G possibly damaging Het
Lrrc9 A T 12: 72,496,163 (GRCm39) I13F probably damaging Het
Map2k3 T A 11: 60,834,317 (GRCm39) I95N probably damaging Het
Mark1 A G 1: 184,637,807 (GRCm39) I594T probably damaging Het
Mettl14 T C 3: 123,168,474 (GRCm39) I189V possibly damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Odf4 C A 11: 68,813,672 (GRCm39) C133F probably damaging Het
Opa1 A T 16: 29,416,438 (GRCm39) Q106L probably damaging Het
Or10d5j T C 9: 39,868,216 (GRCm39) N5S probably damaging Het
Pax4 T G 6: 28,446,269 (GRCm39) S75R probably damaging Het
Ppfibp1 T A 6: 146,923,629 (GRCm39) probably null Het
Ptpn20 T C 14: 33,353,068 (GRCm39) I269T probably benign Het
Ptprq T C 10: 107,360,192 (GRCm39) Q2161R probably damaging Het
Rab22a A G 2: 173,503,280 (GRCm39) D31G probably damaging Het
Rap1gds1 A T 3: 138,664,817 (GRCm39) M296K probably damaging Het
Rfx1 A G 8: 84,819,840 (GRCm39) T692A probably damaging Het
Sf3b2 A G 19: 5,325,165 (GRCm39) V769A probably damaging Het
Skint5 A T 4: 113,652,762 (GRCm39) F621I unknown Het
Spink5 A C 18: 44,132,924 (GRCm39) R513S possibly damaging Het
Srrm2 C T 17: 24,038,524 (GRCm39) probably benign Het
Srrt A G 5: 137,295,035 (GRCm39) probably null Het
Sun3 T C 11: 8,973,295 (GRCm39) Q134R possibly damaging Het
Tpo A G 12: 30,155,979 (GRCm39) V174A probably benign Het
Ucp1 A G 8: 84,020,832 (GRCm39) R183G possibly damaging Het
Vmn2r66 A G 7: 84,656,017 (GRCm39) V333A probably benign Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp936 A G 7: 42,839,664 (GRCm39) Q377R probably damaging Het
Zkscan2 T C 7: 123,099,090 (GRCm39) E34G probably benign Het
Zup1 T A 10: 33,825,439 (GRCm39) E14D probably damaging Het
Other mutations in Gltp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02987:Gltp APN 5 114,812,243 (GRCm39) missense probably benign 0.32
R4621:Gltp UTSW 5 114,812,188 (GRCm39) missense probably damaging 0.99
R6328:Gltp UTSW 5 114,808,572 (GRCm39) missense possibly damaging 0.60
R7514:Gltp UTSW 5 114,808,521 (GRCm39) missense probably benign 0.00
R7819:Gltp UTSW 5 114,812,161 (GRCm39) missense probably benign
R9629:Gltp UTSW 5 114,814,382 (GRCm39) missense probably benign
R9716:Gltp UTSW 5 114,808,470 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- GTTGAGTCTCTTCTCACAGCCG -3'
(R):5'- GCTGTAGTGAGCCATGGTTC -3'

Sequencing Primer
(F):5'- TTCTCACAGCCGTGGAAC -3'
(R):5'- CCATGGTTCTGAATGGCTGTCC -3'
Posted On 2016-06-21