Incidental Mutation 'R0930:Bpi'
ID80721
Institutional Source Beutler Lab
Gene Symbol Bpi
Ensembl Gene ENSMUSG00000052922
Gene Namebactericidal permeablility increasing protein
Synonyms9230105K17Rik, Bpifd1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0930 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location158258094-158284531 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 158261426 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 114 (I114V)
Ref Sequence ENSEMBL: ENSMUSP00000105126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065039] [ENSMUST00000109499] [ENSMUST00000109500]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065039
AA Change: I114V

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: I114V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
BPI1 36 259 1.72e-70 SMART
BPI2 274 481 7.01e-53 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109499
AA Change: I114V

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: I114V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
BPI1 36 259 1.72e-70 SMART
BPI2 274 478 3.93e-56 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109500
AA Change: I114V

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: I114V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
BPI1 36 259 1.72e-70 SMART
BPI2 274 477 5.43e-59 SMART
Meta Mutation Damage Score 0.3204 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,140,130 Y456F probably damaging Het
Abcg8 G T 17: 84,683,277 V16L probably benign Het
Adamts18 A T 8: 113,705,396 probably null Het
Agpat4 A T 17: 12,198,836 E88V probably damaging Het
Ahcyl2 A C 6: 29,870,628 probably null Het
Ankrd2 T A 19: 42,043,853 probably null Het
Anxa6 A T 11: 54,994,388 probably null Het
Cacna1c A T 6: 118,675,896 I772N probably damaging Het
Cacna2d1 A G 5: 16,365,862 N1045D possibly damaging Het
Caprin2 T C 6: 148,883,511 probably null Het
Cars T A 7: 143,570,570 H373L probably damaging Het
Ccdc191 G T 16: 43,931,255 G316V probably damaging Het
Cd244 T A 1: 171,577,233 probably null Het
Ces1a C T 8: 93,022,416 D456N probably benign Het
Cul3 A T 1: 80,290,118 M102K probably damaging Het
Dact1 A G 12: 71,318,460 R672G probably damaging Het
Dapk1 T C 13: 60,757,448 F991L probably benign Het
Dlg5 G A 14: 24,135,577 P1920L probably damaging Het
Eme2 G A 17: 24,892,918 S263F probably damaging Het
Exosc4 A G 15: 76,327,534 I14M probably benign Het
Ezr G A 17: 6,753,999 R180* probably null Het
Fyb A T 15: 6,638,828 I501F probably damaging Het
Hdac5 G T 11: 102,204,646 P383Q probably benign Het
Hmx3 A T 7: 131,543,084 H41L probably benign Het
Krt36 A G 11: 100,103,399 F284S probably damaging Het
L1td1 A G 4: 98,737,625 N686D probably damaging Het
Lsamp G A 16: 41,888,964 G86S probably benign Het
Myh8 A G 11: 67,305,998 E1819G possibly damaging Het
Myo7a A T 7: 98,098,256 I129N probably damaging Het
Nckap1 A T 2: 80,554,249 C114S probably benign Het
Nphp4 T G 4: 152,538,055 L599R probably benign Het
Nrcam A G 12: 44,549,884 I301V probably benign Het
Olfr1415 A G 1: 92,491,405 S117P possibly damaging Het
Os9 C T 10: 127,097,055 R547Q probably damaging Het
Oxtr A T 6: 112,489,637 probably null Het
Pgm1 A T 5: 64,112,147 I526F possibly damaging Het
Plekho2 T C 9: 65,556,823 D248G possibly damaging Het
Rab43 A T 6: 87,792,770 Y151* probably null Het
Rbm19 A G 5: 120,126,204 E343G probably benign Het
Rel A T 11: 23,742,439 D531E probably benign Het
Rfx4 T A 10: 84,868,427 V262E probably damaging Het
Ryr3 A G 2: 112,841,833 L1431P probably damaging Het
Sdk2 A G 11: 113,838,445 I1102T probably benign Het
Sema3d A C 5: 12,463,216 D51A possibly damaging Het
Sh2d4a T A 8: 68,335,123 F294I probably damaging Het
Slc3a1 A G 17: 85,059,743 T453A probably benign Het
Sod1 A G 16: 90,225,183 D93G probably benign Het
Sptan1 A G 2: 30,016,028 N1662S probably damaging Het
Stxbp4 A C 11: 90,621,700 M1R probably null Het
Tbc1d7 A T 13: 43,165,336 Y108* probably null Het
Ticam1 A T 17: 56,270,226 V623D unknown Het
Ticam1 A G 17: 56,271,687 L136P probably damaging Het
Tjap1 A C 17: 46,258,529 W512G possibly damaging Het
Unc80 A T 1: 66,510,641 Q686L possibly damaging Het
Wdr45b A T 11: 121,330,214 F213I probably damaging Het
Xdh A C 17: 73,923,082 W285G probably benign Het
Zfp646 C T 7: 127,883,810 Q1500* probably null Het
Other mutations in Bpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Bpi APN 2 158274796 missense probably damaging 1.00
IGL00327:Bpi APN 2 158274844 critical splice donor site probably benign
IGL01614:Bpi APN 2 158271946 missense probably damaging 1.00
IGL02301:Bpi APN 2 158274814 missense probably damaging 1.00
IGL02516:Bpi APN 2 158267731 missense possibly damaging 0.58
IGL02752:Bpi APN 2 158262424 missense probably damaging 0.99
R0077:Bpi UTSW 2 158261334 missense probably damaging 1.00
R0085:Bpi UTSW 2 158273152 nonsense probably null
R0433:Bpi UTSW 2 158258419 missense probably damaging 1.00
R0580:Bpi UTSW 2 158258295 start codon destroyed probably damaging 0.98
R0605:Bpi UTSW 2 158261394 missense probably damaging 1.00
R0924:Bpi UTSW 2 158261426 missense possibly damaging 0.50
R1173:Bpi UTSW 2 158267740 missense probably benign 0.04
R1530:Bpi UTSW 2 158261145 missense probably damaging 1.00
R1923:Bpi UTSW 2 158261163 missense probably damaging 1.00
R1955:Bpi UTSW 2 158274715 missense probably damaging 0.98
R2011:Bpi UTSW 2 158261352 missense probably damaging 0.97
R4748:Bpi UTSW 2 158272021 missense possibly damaging 0.93
R6005:Bpi UTSW 2 158262480 missense possibly damaging 0.69
R6374:Bpi UTSW 2 158272054 missense probably damaging 1.00
R6994:Bpi UTSW 2 158258244 start gained probably benign
R7072:Bpi UTSW 2 158272078 missense probably damaging 0.99
R7707:Bpi UTSW 2 158261173 missense probably benign 0.02
Z1176:Bpi UTSW 2 158272102 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCTTGCCGTCTTTGTTGATGATCAC -3'
(R):5'- AGCTTTGCCACATCCTGCACTG -3'

Sequencing Primer
(F):5'- TGTTGATGATCACCCTACAAGG -3'
(R):5'- TTAAGTGGACAGTTCTCCCAG -3'
Posted On2013-11-07