Incidental Mutation 'R0970:Gpihbp1'
ID 84034
Institutional Source Beutler Lab
Gene Symbol Gpihbp1
Ensembl Gene ENSMUSG00000022579
Gene Name GPI-anchored HDL-binding protein 1
Synonyms GPI-HBP1, 1110002J19Rik
MMRRC Submission 039099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0970 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 75468479-75470062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75469795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 170 (S170N)
Ref Sequence ENSEMBL: ENSMUSP00000023243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023243] [ENSMUST00000189874] [ENSMUST00000189944]
AlphaFold Q9D1N2
Predicted Effect probably benign
Transcript: ENSMUST00000023243
AA Change: S170N

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023243
Gene: ENSMUSG00000022579
AA Change: S170N

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 probably benign
Transcript: ENSMUST00000189874
SMART Domains Protein: ENSMUSP00000139792
Gene: ENSMUSG00000022579

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 benign
Transcript: ENSMUST00000189944
SMART Domains Protein: ENSMUSP00000139511
Gene: ENSMUSG00000022579

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (40/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,661,364 (GRCm39) S307P probably damaging Het
Amdhd2 C T 17: 24,375,544 (GRCm39) probably null Het
Ano1 A T 7: 144,149,308 (GRCm39) M851K probably benign Het
Arid3b A T 9: 57,740,834 (GRCm39) probably benign Het
Arpp21 A G 9: 111,965,516 (GRCm39) probably benign Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
C87436 G A 6: 86,424,310 (GRCm39) V281M probably damaging Het
Cep70 A G 9: 99,157,652 (GRCm39) K184E possibly damaging Het
Clcn7 T C 17: 25,370,208 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col4a2 A G 8: 11,465,438 (GRCm39) T383A probably benign Het
Commd5 A T 15: 76,784,885 (GRCm39) probably null Het
Cyp4b1 G A 4: 115,492,833 (GRCm39) A292V probably benign Het
Dthd1 T C 5: 63,045,324 (GRCm39) L696P probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eepd1 A G 9: 25,514,722 (GRCm39) R510G probably damaging Het
Eno3 T C 11: 70,551,628 (GRCm39) I196T probably damaging Het
Eva1a A G 6: 82,069,084 (GRCm39) E137G probably damaging Het
Gapvd1 T A 2: 34,620,625 (GRCm39) probably null Het
Ggnbp2 T C 11: 84,753,138 (GRCm39) M34V possibly damaging Het
Kdm3b T C 18: 34,942,092 (GRCm39) S528P probably damaging Het
Lrrk2 A T 15: 91,613,372 (GRCm39) Q832L probably benign Het
Nav2 C A 7: 49,233,901 (GRCm39) P1861Q probably damaging Het
Or52n5 A C 7: 104,588,284 (GRCm39) M184L probably benign Het
Piezo1 A T 8: 123,213,549 (GRCm39) I1782N possibly damaging Het
Pikfyve T A 1: 65,304,983 (GRCm39) S1757T probably damaging Het
Plxnb1 G T 9: 108,932,331 (GRCm39) W523C probably damaging Het
Pmm2 G T 16: 8,460,640 (GRCm39) L31F probably damaging Het
Ppm1f T C 16: 16,721,457 (GRCm39) probably null Het
Prss16 T C 13: 22,189,287 (GRCm39) Y34C probably damaging Het
Slc10a2 C G 8: 5,155,115 (GRCm39) E23D probably benign Het
Smc5 T A 19: 23,216,362 (GRCm39) I489F probably damaging Het
Snx2 T C 18: 53,343,762 (GRCm39) probably benign Het
Stradb C T 1: 59,016,219 (GRCm39) L3F possibly damaging Het
Tnxb C G 17: 34,917,917 (GRCm39) P2277A possibly damaging Het
Tpm2 T A 4: 43,515,968 (GRCm39) I270F probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Urb1 A T 16: 90,566,335 (GRCm39) L1484Q possibly damaging Het
Xylt1 G A 7: 117,233,963 (GRCm39) V497I probably damaging 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
R0056:Gpihbp1 UTSW 15 75,468,982 (GRCm39) missense probably damaging 0.97
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
Predicted Primers PCR Primer
(F):5'- ATCATCAAGACAGTGGGAGGCACC -3'
(R):5'- GCTGCAACGAGCTAGATGGCAAAC -3'

Sequencing Primer
(F):5'- CCAGATGACTCAGACCTGTTG -3'
(R):5'- GCTAGATGGCAAACGACATTC -3'
Posted On 2013-11-08