Incidental Mutation 'R7072:Bpifa2'
ID 548938
Institutional Source Beutler Lab
Gene Symbol Bpifa2
Ensembl Gene ENSMUSG00000042459
Gene Name BPI fold containing family A, member 2
Synonyms Psp, Bpifa2e
MMRRC Submission 045168-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7072 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 153850196-153857993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153853293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 132 (D132G)
Ref Sequence ENSEMBL: ENSMUSP00000046080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048103] [ENSMUST00000145388]
AlphaFold P07743
Predicted Effect probably damaging
Transcript: ENSMUST00000048103
AA Change: D132G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046080
Gene: ENSMUSG00000042459
AA Change: D132G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:LBP_BPI_CETP 45 214 1.1e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145388
AA Change: D132G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115384
Gene: ENSMUSG00000042459
AA Change: D132G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:LBP_BPI_CETP 45 210 5.2e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,967,592 (GRCm39) L2214Q probably damaging Het
Acbd3 T C 1: 180,553,934 (GRCm39) F90L probably benign Het
Ahnak2 T A 12: 112,751,786 (GRCm39) Q23L Het
Anpep A T 7: 79,485,127 (GRCm39) L620I possibly damaging Het
Bpi T C 2: 158,113,998 (GRCm39) S299P probably damaging Het
Brd7 T A 8: 89,073,615 (GRCm39) E258D probably benign Het
Btc T C 5: 91,550,796 (GRCm39) probably benign Het
Cacna1c A G 6: 118,573,067 (GRCm39) V2039A Het
Calm4 T A 13: 3,888,275 (GRCm39) V127E probably benign Het
Casp8ap2 T A 4: 32,644,766 (GRCm39) S1280T probably damaging Het
Cc2d2b T C 19: 40,748,803 (GRCm39) V80A unknown Het
Ccdc33 A G 9: 58,019,267 (GRCm39) *279R probably null Het
Cercam T A 2: 29,771,936 (GRCm39) H585Q probably benign Het
Cnnm1 A G 19: 43,429,296 (GRCm39) D138G probably benign Het
Cox4i2 T C 2: 152,602,573 (GRCm39) F89S probably damaging Het
Crb1 G A 1: 139,165,013 (GRCm39) T1098I probably damaging Het
Csnk1e C T 15: 79,322,967 (GRCm39) probably null Het
Ctsj C A 13: 61,150,897 (GRCm39) E187* probably null Het
Dagla A T 19: 10,233,659 (GRCm39) probably null Het
Dnah7a G A 1: 53,458,912 (GRCm39) T3742I probably benign Het
Dnajc6 A C 4: 101,472,812 (GRCm39) H381P probably damaging Het
Dyrk3 A T 1: 131,057,465 (GRCm39) L236Q probably damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Frmd5 A T 2: 121,388,351 (GRCm39) L241Q probably damaging Het
Gcc2 A G 10: 58,106,749 (GRCm39) T662A probably benign Het
Gins1 C T 2: 150,751,671 (GRCm39) probably null Het
Gli3 T A 13: 15,900,280 (GRCm39) N1222K possibly damaging Het
Gm4302 G T 10: 100,177,521 (GRCm39) Q268H unknown Het
Grin2d A T 7: 45,506,922 (GRCm39) W518R probably damaging Het
Grm5 A T 7: 87,723,512 (GRCm39) I601F probably damaging Het
Gtpbp10 A T 5: 5,596,365 (GRCm39) N193K probably benign Het
Igdcc4 T G 9: 65,038,013 (GRCm39) V798G probably damaging Het
Igkv8-19 A T 6: 70,318,396 (GRCm39) F13I probably benign Het
Kctd11 T A 11: 69,770,621 (GRCm39) N139I probably benign Het
Lmo7 G A 14: 102,136,136 (GRCm39) probably null Het
Lrrk2 A T 15: 91,686,123 (GRCm39) M2155L probably benign Het
Ly6g6g C T 15: 74,644,119 (GRCm39) V66M Het
Mettl24 A C 10: 40,559,509 (GRCm39) H53P probably benign Het
Mier2 A G 10: 79,376,133 (GRCm39) M264T unknown Het
Mplkip T C 13: 17,870,122 (GRCm39) I18T unknown Het
Mtmr2 T C 9: 13,699,916 (GRCm39) V101A probably benign Het
Nbeal2 G T 9: 110,455,119 (GRCm39) T2593K probably benign Het
Neu3 A T 7: 99,463,404 (GRCm39) C106* probably null Het
Nutm1 T C 2: 112,082,192 (GRCm39) T295A probably benign Het
Or2h2b-ps1 A G 17: 37,481,269 (GRCm39) I90T probably benign Het
Pcdhga7 G T 18: 37,850,329 (GRCm39) V779L probably benign Het
Pde10a A G 17: 9,161,858 (GRCm39) E231G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plcg2 T A 8: 118,316,574 (GRCm39) probably null Het
Pofut2 T C 10: 77,095,263 (GRCm39) L36P probably benign Het
Pou6f2 T C 13: 18,299,754 (GRCm39) N635S Het
Pramel14 A C 4: 143,720,698 (GRCm39) I81R probably damaging Het
Ptpra T C 2: 130,395,350 (GRCm39) Y818H probably damaging Het
Rad18 T C 6: 112,658,401 (GRCm39) E168G probably benign Het
Rev1 C A 1: 38,106,626 (GRCm39) E634* probably null Het
Sec24d A G 3: 123,124,000 (GRCm39) D403G probably damaging Het
Sema5a C A 15: 32,575,105 (GRCm39) H404Q possibly damaging Het
Shank1 A G 7: 43,994,370 (GRCm39) S844G unknown Het
Slc32a1 T A 2: 158,453,416 (GRCm39) Y85* probably null Het
Slc39a4 T C 15: 76,497,458 (GRCm39) T485A probably damaging Het
Sp5 A C 2: 70,307,074 (GRCm39) Q253P probably benign Het
Sspo A T 6: 48,431,913 (GRCm39) D709V probably damaging Het
Sucnr1 A G 3: 59,993,604 (GRCm39) Y44C probably damaging Het
Taar8b A G 10: 23,967,876 (GRCm39) L106P possibly damaging Het
Tbc1d9 A G 8: 83,991,494 (GRCm39) D922G probably damaging Het
Tbx6 A T 7: 126,383,912 (GRCm39) D322V probably benign Het
Tex15 T A 8: 34,065,459 (GRCm39) S1630T possibly damaging Het
Ube2o G A 11: 116,432,327 (GRCm39) P880S probably benign Het
Uck1 C T 2: 32,148,178 (GRCm39) R182Q probably damaging Het
Utrn T A 10: 12,340,957 (GRCm39) H2840L probably damaging Het
Vps8 A G 16: 21,400,329 (GRCm39) T1266A probably benign Het
Wnk1 A T 6: 119,914,822 (GRCm39) I1909N unknown Het
Zfp352 C T 4: 90,112,661 (GRCm39) T267I probably benign Het
Zfp773 A T 7: 7,135,874 (GRCm39) C241S probably benign Het
Zfp934 T C 13: 62,668,339 (GRCm39) D8G probably damaging Het
Other mutations in Bpifa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1582:Bpifa2 UTSW 2 153,855,638 (GRCm39) missense probably damaging 0.99
R1801:Bpifa2 UTSW 2 153,853,424 (GRCm39) critical splice donor site probably null
R1926:Bpifa2 UTSW 2 153,855,669 (GRCm39) missense probably benign 0.05
R5055:Bpifa2 UTSW 2 153,855,630 (GRCm39) missense probably damaging 1.00
R7406:Bpifa2 UTSW 2 153,851,739 (GRCm39) missense probably benign 0.01
R8083:Bpifa2 UTSW 2 153,852,412 (GRCm39) missense probably damaging 0.98
R8911:Bpifa2 UTSW 2 153,851,090 (GRCm39) missense probably benign 0.01
R9165:Bpifa2 UTSW 2 153,851,741 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACATGCATGGCCCAAGGAAG -3'
(R):5'- GAGTCCTAAAGTCTCCCTGAGAGC -3'

Sequencing Primer
(F):5'- GATTAGGGCCACACAGAT -3'
(R):5'- TCTCCCTGAGAGCCCAGC -3'
Posted On 2019-05-15