Incidental Mutation 'R0056:Gpihbp1'
ID 18429
Institutional Source Beutler Lab
Gene Symbol Gpihbp1
Ensembl Gene ENSMUSG00000022579
Gene Name GPI-anchored HDL-binding protein 1
Synonyms GPI-HBP1, 1110002J19Rik
MMRRC Submission 038350-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0056 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 75468479-75470062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75468982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 52 (I52N)
Ref Sequence ENSEMBL: ENSMUSP00000139511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023243] [ENSMUST00000189874] [ENSMUST00000189944]
AlphaFold Q9D1N2
Predicted Effect possibly damaging
Transcript: ENSMUST00000023243
AA Change: I52N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023243
Gene: ENSMUSG00000022579
AA Change: I52N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 29 48 N/A INTRINSIC
LU 61 148 8.32e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186934
Predicted Effect possibly damaging
Transcript: ENSMUST00000189874
AA Change: I52N

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139792
Gene: ENSMUSG00000022579
AA Change: I52N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 29 48 N/A INTRINSIC
Blast:LU 61 107 9e-19 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000189944
AA Change: I52N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139511
Gene: ENSMUSG00000022579
AA Change: I52N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 29 48 N/A INTRINSIC
Blast:LU 61 97 4e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190119
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit milky plasma due to increased triglyceride and cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,540 (GRCm39) C561* probably null Het
Ankfn1 A G 11: 89,282,502 (GRCm39) S1061P possibly damaging Het
Atp9b A G 18: 80,809,018 (GRCm39) S634P probably damaging Het
Bche A T 3: 73,608,654 (GRCm39) N257K possibly damaging Het
Bms1 A T 6: 118,382,190 (GRCm39) D449E probably benign Het
C630050I24Rik G T 8: 107,846,026 (GRCm39) V59F unknown Het
Camkk2 C T 5: 122,880,261 (GRCm39) E452K probably damaging Het
Ccdc121rt1 T C 1: 181,338,118 (GRCm39) Y278C probably damaging Het
Chd9 A G 8: 91,660,165 (GRCm39) H375R possibly damaging Het
Entpd7 T A 19: 43,713,733 (GRCm39) V364E probably benign Het
Epb41l3 A T 17: 69,560,392 (GRCm39) D313V probably damaging Het
Etv6 G T 6: 134,225,497 (GRCm39) E154* probably null Het
Fshr T G 17: 89,295,885 (GRCm39) H274P probably damaging Het
G3bp1 A G 11: 55,388,867 (GRCm39) N360D probably benign Het
Gdf11 C T 10: 128,722,294 (GRCm39) R187H probably benign Het
H1f8 G T 6: 115,923,934 (GRCm39) probably benign Het
Htt T C 5: 34,983,422 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,014 (GRCm39) Q324R probably benign Het
Kcng3 A G 17: 83,895,185 (GRCm39) L427P probably damaging Het
Klk7 T C 7: 43,461,434 (GRCm39) L17P possibly damaging Het
Klrd1 G A 6: 129,570,738 (GRCm39) V50I probably benign Het
Lama5 A T 2: 179,828,899 (GRCm39) probably benign Het
Lamtor3 T A 3: 137,632,711 (GRCm39) probably benign Het
Lyplal1 G A 1: 185,820,763 (GRCm39) T228I probably benign Het
Mapk6 A G 9: 75,296,098 (GRCm39) Y467H possibly damaging Het
Marchf6 T C 15: 31,467,880 (GRCm39) T776A possibly damaging Het
Mogat1 T G 1: 78,500,407 (GRCm39) M157R probably damaging Het
Morc2b T A 17: 33,357,733 (GRCm39) Q13L possibly damaging Het
Myo1h C T 5: 114,468,273 (GRCm39) T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 (GRCm38) probably null Het
Nobox A G 6: 43,281,853 (GRCm39) C407R probably benign Het
Nup58 A G 14: 60,476,924 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,329 (GRCm39) S187P probably benign Het
Otoa A G 7: 120,730,570 (GRCm39) Y590C probably benign Het
Pelp1 A T 11: 70,284,658 (GRCm39) V1070E unknown Het
Pglyrp3 G T 3: 91,933,111 (GRCm39) probably benign Het
Plpp2 A G 10: 79,363,063 (GRCm39) F189S probably damaging Het
Polr2b T C 5: 77,482,382 (GRCm39) I640T possibly damaging Het
Ryr2 T A 13: 11,683,924 (GRCm39) T3047S probably damaging Het
Snx25 A T 8: 46,491,550 (GRCm39) W847R probably damaging Het
Son T C 16: 91,475,043 (GRCm39) Y454H possibly damaging Het
Sos1 A T 17: 80,721,050 (GRCm39) N923K probably damaging Het
Tex15 A G 8: 34,072,055 (GRCm39) H2534R probably benign Het
Ticam2 G T 18: 46,693,401 (GRCm39) Q229K possibly damaging Het
Tnfaip3 A T 10: 18,881,041 (GRCm39) V342E probably damaging Het
Traf6 A G 2: 101,527,496 (GRCm39) I415M possibly damaging Het
Trpm1 A G 7: 63,893,334 (GRCm39) D1062G probably damaging Het
Wdr59 C T 8: 112,207,239 (GRCm39) probably benign Het
Other mutations in Gpihbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Gpihbp1 APN 15 75,469,977 (GRCm39) intron probably benign
IGL02108:Gpihbp1 APN 15 75,469,461 (GRCm39) missense probably benign 0.33
IGL03303:Gpihbp1 APN 15 75,469,827 (GRCm39) nonsense probably null
R0970:Gpihbp1 UTSW 15 75,469,795 (GRCm39) missense probably benign 0.06
R4347:Gpihbp1 UTSW 15 75,470,017 (GRCm39) makesense probably null
R5009:Gpihbp1 UTSW 15 75,469,570 (GRCm39) intron probably benign
R7900:Gpihbp1 UTSW 15 75,469,791 (GRCm39) missense probably benign 0.01
R8047:Gpihbp1 UTSW 15 75,469,627 (GRCm39) missense possibly damaging 0.85
R8797:Gpihbp1 UTSW 15 75,469,828 (GRCm39) missense possibly damaging 0.72
R9095:Gpihbp1 UTSW 15 75,469,641 (GRCm39) missense possibly damaging 0.95
R9159:Gpihbp1 UTSW 15 75,469,830 (GRCm39) missense possibly damaging 0.85
R9608:Gpihbp1 UTSW 15 75,469,612 (GRCm39) missense probably damaging 0.98
Posted On 2013-03-25