Incidental Mutation 'R6328:Gltp'
ID 510799
Institutional Source Beutler Lab
Gene Symbol Gltp
Ensembl Gene ENSMUSG00000011884
Gene Name glycolipid transfer protein
Synonyms 1110001F24Rik
MMRRC Submission 044482-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R6328 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114807551-114828996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114808572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 157 (C157S)
Ref Sequence ENSEMBL: ENSMUSP00000107831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012028] [ENSMUST00000112212] [ENSMUST00000112214]
AlphaFold Q9JL62
Predicted Effect probably benign
Transcript: ENSMUST00000012028
AA Change: C176S

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000012028
Gene: ENSMUSG00000011884
AA Change: C176S

DomainStartEndE-ValueType
Pfam:GLTP 16 169 4.7e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112212
AA Change: C157S

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107831
Gene: ENSMUSG00000011884
AA Change: C157S

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: C146S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107833
Gene: ENSMUSG00000011884
AA Change: C146S

DomainStartEndE-ValueType
Pfam:GLTP 16 80 2.1e-16 PFAM
Pfam:GLTP 72 139 9.4e-18 PFAM
Meta Mutation Damage Score 0.0936 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abcb10 G A 8: 124,688,756 (GRCm39) R507W probably damaging Het
Actg1 T C 11: 120,238,586 (GRCm39) D80G possibly damaging Het
Actr5 A G 2: 158,477,264 (GRCm39) D405G possibly damaging Het
Ahnak C T 19: 8,984,512 (GRCm39) T1932I probably benign Het
Ankk1 T A 9: 49,327,371 (GRCm39) T603S possibly damaging Het
Atp13a3 A T 16: 30,155,053 (GRCm39) F964I probably damaging Het
Atp6v1g3 A G 1: 138,215,570 (GRCm39) T77A probably benign Het
Bccip A G 7: 133,319,503 (GRCm39) H198R probably damaging Het
Bsx A T 9: 40,785,519 (GRCm39) R16W probably damaging Het
Ccdc88b C T 19: 6,826,406 (GRCm39) R1103Q probably damaging Het
Cd59a A C 2: 103,941,103 (GRCm39) Y27S probably damaging Het
Cdk20 A G 13: 64,584,413 (GRCm39) H162R probably damaging Het
Col6a2 C T 10: 76,450,212 (GRCm39) E240K possibly damaging Het
Ddr2 A G 1: 169,814,634 (GRCm39) V603A possibly damaging Het
Dgkz A G 2: 91,772,980 (GRCm39) V359A probably benign Het
Dis3l2 T A 1: 86,782,153 (GRCm39) S223T probably benign Het
Dpysl4 A G 7: 138,679,734 (GRCm39) S535G probably benign Het
Dsp A T 13: 38,380,982 (GRCm39) K1977* probably null Het
Dync2h1 A T 9: 7,165,717 (GRCm39) S515T probably benign Het
Epg5 A G 18: 78,072,179 (GRCm39) E2397G possibly damaging Het
Fam83d G A 2: 158,627,096 (GRCm39) G262S probably damaging Het
Frmd4a A T 2: 4,595,509 (GRCm39) T477S probably damaging Het
Gbp3 A G 3: 142,274,819 (GRCm39) E382G probably benign Het
Grb10 A G 11: 11,887,905 (GRCm39) S378P probably damaging Het
Gulo G T 14: 66,240,080 (GRCm39) T126K probably damaging Het
H2-M10.6 T A 17: 37,124,836 (GRCm39) M251K probably damaging Het
Hecw1 T C 13: 14,422,205 (GRCm39) D967G possibly damaging Het
Htr3b A T 9: 48,858,933 (GRCm39) D68E probably damaging Het
Igkv5-39 G T 6: 69,877,489 (GRCm39) S89* probably null Het
Kctd4 C A 14: 76,200,037 (GRCm39) probably benign Het
Lmna T C 3: 88,393,813 (GRCm39) Q255R probably damaging Het
Lsmem1 A G 12: 40,230,656 (GRCm39) I82T possibly damaging Het
Lyg2 T A 1: 37,950,194 (GRCm39) M45L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Nudt5 A T 2: 5,869,248 (GRCm39) K158I possibly damaging Het
Nufip1 C T 14: 76,348,494 (GRCm39) P41L possibly damaging Het
Or4f14b A T 2: 111,775,739 (GRCm39) W21R probably null Het
Or52z13 A T 7: 103,247,073 (GRCm39) E183D probably damaging Het
Pcp2 T C 8: 3,674,887 (GRCm39) D22G probably damaging Het
Pdk2 G C 11: 94,930,228 (GRCm39) N69K possibly damaging Het
Pdlim7 G T 13: 55,655,905 (GRCm39) probably benign Het
Ptprc C A 1: 138,041,416 (GRCm39) E148* probably null Het
Rassf5 A T 1: 131,108,405 (GRCm39) V225E probably damaging Het
Rbm6 A T 9: 107,664,458 (GRCm39) M725K probably benign Het
Scn1a T A 2: 66,103,660 (GRCm39) I1867F probably damaging Het
Sdk2 T A 11: 113,684,581 (GRCm39) Q1960L probably damaging Het
Setx A G 2: 29,064,474 (GRCm39) probably benign Het
Sgo2b T A 8: 64,381,345 (GRCm39) R496* probably null Het
Slco1a1 C T 6: 141,878,176 (GRCm39) V222I probably damaging Het
Sntg2 A C 12: 30,308,013 (GRCm39) L224R probably damaging Het
Syt16 C A 12: 74,313,467 (GRCm39) C464* probably null Het
Tapbpl T A 6: 125,201,881 (GRCm39) S420C probably benign Het
Tax1bp1 A G 6: 52,723,694 (GRCm39) E528G probably benign Het
Tmem168 T C 6: 13,602,710 (GRCm39) T219A probably benign Het
Zfp180 T C 7: 23,804,981 (GRCm39) F467L 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
R5163:Gltp UTSW 5 114,812,122 (GRCm39) missense probably benign 0.04
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'- ATTGCTCCATTAGAATAGGCCAAGAC -3'
(R):5'- ACTTGCCCAGTCTTGGTCAG -3'

Sequencing Primer
(F):5'- AGACCTCTAACAAGCTAAGGC -3'
(R):5'- CCCAGTCTTGGTCAGGGATG -3'
Posted On 2018-04-02