Incidental Mutation 'R4713:Bpifb2'
ID 353347
Institutional Source Beutler Lab
Gene Symbol Bpifb2
Ensembl Gene ENSMUSG00000027481
Gene Name BPI fold containing family B, member 2
Synonyms 2310069A01Rik, Bpil1, 2310034L21Rik
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 153716965-153737190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153723113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 123 (V123E)
Ref Sequence ENSEMBL: ENSMUSP00000028983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028983]
AlphaFold Q8C1E1
Predicted Effect probably damaging
Transcript: ENSMUST00000028983
AA Change: V123E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028983
Gene: ENSMUSG00000027481
AA Change: V123E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:LBP_BPI_CETP 36 194 2.4e-27 PFAM
BPI2 253 456 2.67e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129776
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
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 lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging Het
Other mutations in Bpifb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02001:Bpifb2 APN 2 153,733,195 (GRCm39) splice site probably benign
IGL02164:Bpifb2 APN 2 153,725,482 (GRCm39) missense probably damaging 0.99
IGL03063:Bpifb2 APN 2 153,731,044 (GRCm39) missense probably damaging 1.00
R0044:Bpifb2 UTSW 2 153,724,599 (GRCm39) splice site probably benign
R0044:Bpifb2 UTSW 2 153,724,599 (GRCm39) splice site probably benign
R0084:Bpifb2 UTSW 2 153,733,011 (GRCm39) missense probably benign 0.03
R0791:Bpifb2 UTSW 2 153,720,439 (GRCm39) missense probably benign 0.05
R1503:Bpifb2 UTSW 2 153,731,430 (GRCm39) missense possibly damaging 0.83
R2278:Bpifb2 UTSW 2 153,720,399 (GRCm39) nonsense probably null
R3810:Bpifb2 UTSW 2 153,733,871 (GRCm39) missense probably benign 0.04
R3812:Bpifb2 UTSW 2 153,733,871 (GRCm39) missense probably benign 0.04
R4030:Bpifb2 UTSW 2 153,733,237 (GRCm39) missense probably benign 0.30
R4573:Bpifb2 UTSW 2 153,731,412 (GRCm39) missense probably damaging 0.99
R5143:Bpifb2 UTSW 2 153,720,424 (GRCm39) missense probably damaging 1.00
R5523:Bpifb2 UTSW 2 153,717,905 (GRCm39) unclassified probably benign
R5899:Bpifb2 UTSW 2 153,733,050 (GRCm39) missense probably damaging 1.00
R6011:Bpifb2 UTSW 2 153,731,496 (GRCm39) splice site probably null
R6172:Bpifb2 UTSW 2 153,732,332 (GRCm39) missense probably benign 0.15
R6378:Bpifb2 UTSW 2 153,733,072 (GRCm39) missense possibly damaging 0.93
R6878:Bpifb2 UTSW 2 153,717,832 (GRCm39) unclassified probably benign
R7381:Bpifb2 UTSW 2 153,734,268 (GRCm39) missense probably benign 0.01
R7390:Bpifb2 UTSW 2 153,731,726 (GRCm39) missense possibly damaging 0.89
R7424:Bpifb2 UTSW 2 153,732,460 (GRCm39) missense possibly damaging 0.93
R7473:Bpifb2 UTSW 2 153,723,116 (GRCm39) missense possibly damaging 0.80
R7493:Bpifb2 UTSW 2 153,731,397 (GRCm39) missense possibly damaging 0.74
R8145:Bpifb2 UTSW 2 153,733,232 (GRCm39) missense probably damaging 1.00
R8178:Bpifb2 UTSW 2 153,733,876 (GRCm39) missense probably damaging 0.99
R8725:Bpifb2 UTSW 2 153,731,356 (GRCm39) missense possibly damaging 0.47
R8960:Bpifb2 UTSW 2 153,731,046 (GRCm39) missense possibly damaging 0.90
R9201:Bpifb2 UTSW 2 153,733,903 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TCACAGGAGTCACAGGAAGC -3'
(R):5'- ATGACAGAATCTCCTTGGTCC -3'

Sequencing Primer
(F):5'- GAAGCCCGAATCATACTCATGTCTG -3'
(R):5'- GACAGAATCTCCTTGGTCCTTTGTTG -3'
Posted On 2015-10-21