Incidental Mutation 'R7300:Bpifb5'
ID 566912
Institutional Source Beutler Lab
Gene Symbol Bpifb5
Ensembl Gene ENSMUSG00000038572
Gene Name BPI fold containing family B, member 5
Synonyms BC018465
MMRRC Submission 045404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7300 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 154065662-154082822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154070066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 172 (E172G)
Ref Sequence ENSEMBL: ENSMUSP00000046683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045959]
AlphaFold Q3UQ05
Predicted Effect possibly damaging
Transcript: ENSMUST00000045959
AA Change: E172G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046683
Gene: ENSMUSG00000038572
AA Change: E172G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
coiled coil region 26 54 N/A INTRINSIC
Pfam:LBP_BPI_CETP 94 231 7.6e-14 PFAM
Blast:BPI2 291 488 4e-91 BLAST
SCOP:d1ewfa2 433 486 8e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (45/48)
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Adgrd1 T C 5: 129,174,411 (GRCm39) probably null Het
Atr T C 9: 95,747,423 (GRCm39) I235T probably benign Het
Btbd2 A T 10: 80,480,100 (GRCm39) I420N probably damaging Het
Ccdc141 G A 2: 76,845,038 (GRCm39) T1343I probably benign Het
Cd59b A T 2: 103,914,795 (GRCm39) K64N possibly damaging Het
Cd63 A G 10: 128,748,034 (GRCm39) N144S probably benign Het
Cip2a A G 16: 48,834,217 (GRCm39) K631E probably damaging Het
Col4a4 C T 1: 82,464,361 (GRCm39) R989Q unknown Het
Cyp4a31 A G 4: 115,427,468 (GRCm39) T225A probably benign Het
Dnah1 T G 14: 30,991,798 (GRCm39) E3068A probably benign Het
Fpgt C T 3: 154,792,612 (GRCm39) V472I probably damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Homer3 T C 8: 70,737,953 (GRCm39) M1T probably null Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Il2ra A G 2: 11,681,721 (GRCm39) T109A not run Het
Itgb6 T C 2: 60,435,650 (GRCm39) D700G probably benign Het
Krt31 T C 11: 99,938,612 (GRCm39) E327G probably damaging Het
Large1 A C 8: 73,564,224 (GRCm39) L514R probably damaging Het
Map3k8 C T 18: 4,349,076 (GRCm39) V81M probably damaging Het
Mstn T C 1: 53,103,239 (GRCm39) S192P probably benign Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or13a27 A T 7: 139,925,268 (GRCm39) N211K probably damaging Het
Or2n1c A C 17: 38,519,588 (GRCm39) T151P possibly damaging Het
Or2y1c C T 11: 49,361,473 (GRCm39) T165I probably benign Het
Or52i2 A G 7: 102,319,417 (GRCm39) S97G probably benign Het
Or7g17 T C 9: 18,768,530 (GRCm39) I194T not run Het
Or8k25 T C 2: 86,244,330 (GRCm39) E22G probably null Het
Pde4a T C 9: 21,117,618 (GRCm39) S627P probably damaging Het
Pdxdc1 A G 16: 13,697,374 (GRCm39) I102T probably damaging Het
Phldb2 A G 16: 45,645,925 (GRCm39) S174P probably damaging Het
Pla2g4e C T 2: 120,021,680 (GRCm39) V143I probably damaging Het
Pou4f2 C T 8: 79,162,735 (GRCm39) probably null Het
Ppl C T 16: 4,920,235 (GRCm39) V387M possibly damaging Het
Pramel43 A T 5: 94,760,655 (GRCm39) D340E probably benign Het
Rarg A T 15: 102,160,852 (GRCm39) probably null Het
Ryr1 T C 7: 28,758,936 (GRCm39) Y3414C probably damaging Het
Serpinb8 T A 1: 107,535,053 (GRCm39) *375K probably null Het
Sim1 C T 10: 50,785,614 (GRCm39) H228Y probably benign Het
Spag4 A T 2: 155,907,541 (GRCm39) H87L probably benign Het
Ttc17 A T 2: 94,205,479 (GRCm39) L289Q probably damaging Het
Ubac2 T C 14: 122,142,586 (GRCm39) L28P probably damaging Het
Vmn2r31 C A 7: 7,387,775 (GRCm39) A599S possibly damaging Het
Vps13c T C 9: 67,847,826 (GRCm39) V2196A probably benign Het
Zswim5 A T 4: 116,833,102 (GRCm39) I612F probably damaging Het
Zzef1 T A 11: 72,765,830 (GRCm39) H1452Q probably benign Het
Other mutations in Bpifb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Bpifb5 APN 2 154,075,169 (GRCm39) missense possibly damaging 0.86
IGL01676:Bpifb5 APN 2 154,070,969 (GRCm39) missense possibly damaging 0.71
IGL02065:Bpifb5 APN 2 154,069,103 (GRCm39) missense probably damaging 0.98
IGL02141:Bpifb5 APN 2 154,071,477 (GRCm39) splice site probably null
IGL02244:Bpifb5 APN 2 154,067,068 (GRCm39) missense possibly damaging 0.93
IGL03118:Bpifb5 APN 2 154,078,673 (GRCm39) splice site probably benign
A4554:Bpifb5 UTSW 2 154,069,100 (GRCm39) missense possibly damaging 0.71
R0022:Bpifb5 UTSW 2 154,072,268 (GRCm39) missense probably damaging 0.98
R0492:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0654:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0692:Bpifb5 UTSW 2 154,076,616 (GRCm39) missense probably benign 0.33
R0707:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0898:Bpifb5 UTSW 2 154,075,254 (GRCm39) missense probably benign
R1534:Bpifb5 UTSW 2 154,071,419 (GRCm39) missense possibly damaging 0.86
R1539:Bpifb5 UTSW 2 154,065,776 (GRCm39) missense probably benign
R1874:Bpifb5 UTSW 2 154,069,122 (GRCm39) splice site probably benign
R1971:Bpifb5 UTSW 2 154,072,264 (GRCm39) missense probably benign 0.18
R2001:Bpifb5 UTSW 2 154,075,199 (GRCm39) missense possibly damaging 0.53
R3013:Bpifb5 UTSW 2 154,070,775 (GRCm39) missense possibly damaging 0.59
R3916:Bpifb5 UTSW 2 154,070,101 (GRCm39) missense probably benign
R4499:Bpifb5 UTSW 2 154,082,678 (GRCm39) missense possibly damaging 0.53
R5250:Bpifb5 UTSW 2 154,066,881 (GRCm39) missense probably benign
R6301:Bpifb5 UTSW 2 154,072,139 (GRCm39) missense possibly damaging 0.73
R6836:Bpifb5 UTSW 2 154,069,985 (GRCm39) missense probably benign 0.02
R6869:Bpifb5 UTSW 2 154,075,143 (GRCm39) missense probably benign 0.33
R7014:Bpifb5 UTSW 2 154,066,876 (GRCm39) nonsense probably null
R7427:Bpifb5 UTSW 2 154,067,042 (GRCm39) missense probably benign
R7428:Bpifb5 UTSW 2 154,067,042 (GRCm39) missense probably benign
R7439:Bpifb5 UTSW 2 154,070,853 (GRCm39) missense possibly damaging 0.71
R7448:Bpifb5 UTSW 2 154,072,105 (GRCm39) missense possibly damaging 0.53
R7935:Bpifb5 UTSW 2 154,070,975 (GRCm39) missense probably benign 0.01
R8964:Bpifb5 UTSW 2 154,072,198 (GRCm39) missense possibly damaging 0.96
R9049:Bpifb5 UTSW 2 154,070,096 (GRCm39) missense probably benign 0.00
R9058:Bpifb5 UTSW 2 154,080,817 (GRCm39) missense possibly damaging 0.85
R9349:Bpifb5 UTSW 2 154,067,005 (GRCm39) missense possibly damaging 0.96
T0975:Bpifb5 UTSW 2 154,071,384 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GGATCTTGGCTCAGTACCAC -3'
(R):5'- TTTGAAGGAGAGGCAGCCCTAG -3'

Sequencing Primer
(F):5'- GAGCTCTCCTAGATTCTAATGCAAGC -3'
(R):5'- TAGCCCAGAGAAGGACCACTG -3'
Posted On 2019-06-26