Incidental Mutation 'R6374:Bpi'
ID513669
Institutional Source Beutler Lab
Gene Symbol Bpi
Ensembl Gene ENSMUSG00000052922
Gene Namebactericidal permeablility increasing protein
Synonyms9230105K17Rik, Bpifd1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.042) question?
Stock #R6374 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location158258094-158284531 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 158272054 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 291 (T291S)
Ref Sequence ENSEMBL: ENSMUSP00000105126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065039] [ENSMUST00000109499] [ENSMUST00000109500]
Predicted Effect probably damaging
Transcript: ENSMUST00000065039
AA Change: T291S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: T291S

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 probably damaging
Transcript: ENSMUST00000109499
AA Change: T291S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: T291S

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 probably damaging
Transcript: ENSMUST00000109500
AA Change: T291S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: T291S

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 0.122 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 99% (75/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,472,880 S293A possibly damaging Het
4932415D10Rik T A 10: 82,288,897 probably benign Het
5430401F13Rik A T 6: 131,552,929 Q162L unknown Het
Abca8a A T 11: 110,083,390 Y239* probably null Het
Aox3 T C 1: 58,172,161 I959T probably benign Het
Atad2b T C 12: 5,018,002 V1000A probably damaging Het
Atic C T 1: 71,564,941 T221M probably damaging Het
Atp1a2 C T 1: 172,289,375 R225H probably damaging Het
BC024139 A G 15: 76,120,457 probably null Het
Ccdc170 C T 10: 4,549,746 Q556* probably null Het
Cd3e G A 9: 45,009,363 L12F probably benign Het
Cdc42ep1 A T 15: 78,847,449 R31S probably damaging Het
Cyp21a1 G T 17: 34,804,136 probably null Het
Dnase1l3 A G 14: 7,974,115 M192T probably damaging Het
Dnmt1 A T 9: 20,924,045 H330Q possibly damaging Het
Enah T C 1: 181,923,580 E232G unknown Het
Etnppl C T 3: 130,620,693 T73I probably damaging Het
Fam83b T A 9: 76,492,907 I305F probably benign Het
Galnt15 T A 14: 32,058,159 I471N probably damaging Het
Gm19965 T A 1: 116,822,291 N567K probably benign Het
Golga1 T C 2: 39,034,068 Q435R probably benign Het
Gpat2 G C 2: 127,431,918 G294R possibly damaging Het
Hao1 T G 2: 134,523,104 D201A probably benign Het
Heg1 T C 16: 33,727,129 L786P possibly damaging Het
Hnrnpll A T 17: 80,049,874 C238S possibly damaging Het
Hrg A G 16: 22,960,992 Y340C probably damaging Het
Kyat3 A T 3: 142,738,237 I411F probably damaging Het
Myo1a T C 10: 127,707,680 Y202H probably damaging Het
Nags T C 11: 102,146,511 C143R possibly damaging Het
Ncoa6 T C 2: 155,421,156 N453D probably damaging Het
Nup35 G T 2: 80,658,386 M322I probably benign Het
Olfr620 A G 7: 103,611,921 L144P probably benign Het
Oprl1 T C 2: 181,715,928 V69A probably damaging Het
Pappa2 T A 1: 158,956,645 Y265F probably damaging Het
Pcsk6 C T 7: 65,980,155 P343L possibly damaging Het
Peak1 C A 9: 56,257,666 D993Y probably damaging Het
Polr2a T C 11: 69,736,932 Y1383C probably damaging Het
Ppme1 A G 7: 100,341,065 S226P probably damaging Het
Prom1 C T 5: 44,055,983 C127Y probably damaging Het
Ptpn6 A T 6: 124,732,569 probably null Het
Reln T C 5: 22,080,714 E419G probably benign Het
Rnf32 C T 5: 29,225,268 Q362* probably null Het
Sbspon T C 1: 15,883,663 D131G probably benign Het
Scyl3 T C 1: 163,949,214 S392P probably benign Het
Shtn1 T A 19: 59,038,296 D121V possibly damaging Het
Sin3a A G 9: 57,117,481 T1042A probably benign Het
Sipa1l2 A T 8: 125,444,630 V1371D probably damaging Het
Slc20a2 T C 8: 22,565,652 V584A possibly damaging Het
Smc6 T A 12: 11,305,873 probably null Het
Specc1 C T 11: 62,156,592 T849I possibly damaging Het
Spta1 T A 1: 174,214,168 L1368H probably damaging Het
Sqle A G 15: 59,316,110 E89G possibly damaging Het
Strbp A G 2: 37,603,008 V422A probably damaging Het
Sult6b1 G T 17: 78,906,931 T21K probably benign Het
Tex15 A G 8: 33,575,912 E1790G probably damaging Het
Tmem88b T A 4: 155,785,764 probably benign Het
Traf3ip3 T C 1: 193,182,010 D355G possibly damaging Het
Trim24 T A 6: 37,953,549 V576E probably benign Het
Trim30c C T 7: 104,390,402 G62D probably benign Het
Trim66 T G 7: 109,486,062 K100N probably benign Het
Tsnaxip1 A T 8: 105,841,540 T313S possibly damaging Het
Ugt2b37 A T 5: 87,242,420 I389N probably damaging Het
Unc13a C T 8: 71,641,453 V1335M possibly damaging Het
Urah A G 7: 140,835,211 T5A probably benign Het
Usp34 T C 11: 23,438,914 Y2185H probably damaging Het
Usp44 T C 10: 93,856,310 S643P probably benign Het
Vars2 A G 17: 35,660,045 V631A probably damaging Het
Vmn2r11 G A 5: 109,053,813 T275I possibly damaging Het
Vmn2r54 C A 7: 12,615,493 V721F probably damaging Het
Vmn2r79 T C 7: 87,002,290 I299T probably benign Het
Vps13d T C 4: 145,122,681 T2387A probably damaging Het
Washc5 A T 15: 59,337,195 L610Q probably benign Het
Zbtb21 T C 16: 97,950,368 E905G probably damaging Het
Zfhx4 A G 3: 5,244,035 T774A probably damaging Het
Zfp534 T C 4: 147,674,842 I457V probably benign Het
Zfp964 T C 8: 69,659,344 Y29H possibly damaging Het
Znrf4 A G 17: 56,511,702 F202L probably damaging 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
R0930: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
R6994:Bpi UTSW 2 158258244 start gained probably benign
R7072:Bpi UTSW 2 158272078 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACTCACCTGCAGTCCTAGAAG -3'
(R):5'- GGGTCTGAGTTACAAGGATGC -3'

Sequencing Primer
(F):5'- TAGAAGGACACCTAGACTTGCTCTG -3'
(R):5'- CTTGAACTCAGGGCTCTGTGAC -3'
Posted On2018-04-27