Incidental Mutation 'R0054:Bpnt1'
ID 40952
Institutional Source Beutler Lab
Gene Symbol Bpnt1
Ensembl Gene ENSMUSG00000026617
Gene Name 3'(2'), 5'-bisphosphate nucleotidase 1
Synonyms bisphosphate 3'-nucleotidase 1, BPntase
MMRRC Submission 038348-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R0054 (G1)
Quality Score 183
Status Validated
Chromosome 1
Chromosomal Location 185064346-185089974 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 185073413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027916] [ENSMUST00000110965] [ENSMUST00000151769] [ENSMUST00000210277]
AlphaFold Q9Z0S1
Predicted Effect probably benign
Transcript: ENSMUST00000027916
SMART Domains Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617

Pfam:Inositol_P 8 303 7.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110965
SMART Domains Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617

Pfam:Inositol_P 1 248 2.8e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137757
Predicted Effect probably benign
Transcript: ENSMUST00000151769
SMART Domains Protein: ENSMUSP00000117122
Gene: ENSMUSG00000026617

Pfam:Inositol_P 8 83 1.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210277
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (83/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe liver pathologies, including hypoproteinemia, abnormal hepatocellular morphology and damage, and in severe cases, whole body edema and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,547,500 (GRCm39) probably null Het
Ahnak T A 19: 8,989,420 (GRCm39) V3568E probably damaging Het
Alpi T C 1: 87,027,487 (GRCm39) E293G possibly damaging Het
Apoa4 A G 9: 46,153,822 (GRCm39) D141G probably benign Het
Atg9a T C 1: 75,161,143 (GRCm39) Y701C probably damaging Het
Baz2b C T 2: 59,762,510 (GRCm39) R922Q probably damaging Het
Bmal2 T G 6: 146,731,216 (GRCm39) V507G probably benign Het
Brms1 T A 19: 5,096,727 (GRCm39) C136* probably null Het
Ccdc180 T A 4: 45,890,900 (GRCm39) V24E probably benign Het
Cdh17 A G 4: 11,785,186 (GRCm39) Y326C possibly damaging Het
Cgn A T 3: 94,669,899 (GRCm39) D1080E possibly damaging Het
Clec4f C T 6: 83,629,911 (GRCm39) V216M probably benign Het
Cpd C G 11: 76,681,664 (GRCm39) G1160R probably damaging Het
Csf2ra A G 19: 61,215,035 (GRCm39) L143P probably damaging Het
Ddb2 G T 2: 91,065,165 (GRCm39) Q87K probably benign Het
Defb41 A G 1: 18,321,471 (GRCm39) Y48H probably damaging Het
Dido1 T C 2: 180,303,267 (GRCm39) N1546D probably benign Het
Dll1 A T 17: 15,589,216 (GRCm39) H486Q probably damaging Het
Dmac1 A G 4: 75,196,337 (GRCm39) V51A possibly damaging Het
Dnajb11 C T 16: 22,681,369 (GRCm39) A49V probably damaging Het
Dnajc14 G A 10: 128,643,448 (GRCm39) D457N probably damaging Het
Eif3a C A 19: 60,755,264 (GRCm39) D973Y unknown Het
Entpd3 T A 9: 120,386,608 (GRCm39) N196K probably damaging Het
Fam53a C A 5: 33,765,076 (GRCm39) G210V probably damaging Het
Farsb T A 1: 78,439,011 (GRCm39) K395* probably null Het
Fem1b A G 9: 62,704,082 (GRCm39) S393P probably damaging Het
Fsip2 T A 2: 82,806,952 (GRCm39) D1090E probably damaging Het
Fsip2 A C 2: 82,817,299 (GRCm39) N4344T possibly damaging Het
Gata3 G A 2: 9,863,258 (GRCm39) P419S probably damaging Het
Gm7247 T A 14: 51,807,057 (GRCm39) probably benign Het
Gphn A G 12: 78,684,277 (GRCm39) S558G probably damaging Het
Gpr142 C A 11: 114,689,755 (GRCm39) H2Q probably benign Het
Grhpr T C 4: 44,988,915 (GRCm39) probably benign Het
Grik3 C A 4: 125,517,368 (GRCm39) N70K probably damaging Het
Gsap T A 5: 21,455,933 (GRCm39) probably benign Het
Iars1 T A 13: 49,846,611 (GRCm39) C237S probably damaging Het
Itprid1 T C 6: 55,849,457 (GRCm39) probably benign Het
Kank2 G A 9: 21,685,970 (GRCm39) R635* probably null Het
Kcnj16 G T 11: 110,915,549 (GRCm39) W70C probably damaging Het
Kpna6 T C 4: 129,551,251 (GRCm39) M85V probably benign Het
Kri1 G A 9: 21,186,661 (GRCm39) S447L probably damaging Het
L2hgdh G A 12: 69,768,105 (GRCm39) P131L possibly damaging Het
Lrp1b A G 2: 40,632,829 (GRCm39) V3528A probably benign Het
Lrrc46 A T 11: 96,929,605 (GRCm39) L77Q probably damaging Het
Mdc1 A G 17: 36,159,925 (GRCm39) T678A probably benign Het
Mrpl44 T C 1: 79,757,212 (GRCm39) L219S probably damaging Het
Myo7a T C 7: 97,714,905 (GRCm39) D112G probably damaging Het
Ncoa3 A G 2: 165,897,098 (GRCm39) T630A possibly damaging Het
Nsl1 T C 1: 190,814,381 (GRCm39) L194P probably damaging Het
Or4k39 G A 2: 111,239,140 (GRCm39) G127S probably benign Het
Or5ac23 T C 16: 59,149,428 (GRCm39) Y148C possibly damaging Het
Or8u10 T C 2: 85,915,705 (GRCm39) K139E probably benign Het
Pde4d A G 13: 109,876,955 (GRCm39) S159G probably benign Het
Pi4ka T C 16: 17,142,978 (GRCm39) R845G probably null Het
Pld1 A G 3: 28,150,033 (GRCm39) probably benign Het
Pramel25 T A 4: 143,521,572 (GRCm39) L396H probably damaging Het
Psd T A 19: 46,311,781 (GRCm39) I300F probably damaging Het
Ptprz1 T A 6: 22,986,195 (GRCm39) W332R probably damaging Het
Rab3d A T 9: 21,827,222 (GRCm39) S3T possibly damaging Het
Rnf212 T A 5: 108,893,530 (GRCm39) M70L possibly damaging Het
Scd3 A G 19: 44,204,076 (GRCm39) Y88C probably damaging Het
Sema4f A G 6: 82,896,674 (GRCm39) probably benign Het
Sez6 C A 11: 77,844,699 (GRCm39) T7K possibly damaging Het
Skint2 T C 4: 112,502,660 (GRCm39) I290T probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc5a3 T A 16: 91,874,522 (GRCm39) I193N probably damaging Het
Slc5a4a A G 10: 76,014,031 (GRCm39) I413V probably null Het
Snip1 T A 4: 124,966,633 (GRCm39) Y354* probably null Het
Spata31d1c A G 13: 65,180,876 (GRCm39) probably benign Het
Speer2 G A 16: 69,655,640 (GRCm39) T62M probably damaging Het
Tmco5 A G 2: 116,717,768 (GRCm39) Y200C probably damaging Het
Tmem87b T A 2: 128,673,361 (GRCm39) probably benign Het
Trim43c A T 9: 88,729,568 (GRCm39) K336N probably damaging Het
Trim60 T C 8: 65,453,973 (GRCm39) E92G probably benign Het
Ttc21a C A 9: 119,773,006 (GRCm39) Q228K probably damaging Het
Ttn A T 2: 76,626,804 (GRCm39) D13067E possibly damaging Het
Ufl1 A T 4: 25,269,087 (GRCm39) I168N probably damaging Het
Vmn1r167 T G 7: 23,204,334 (GRCm39) R227S possibly damaging Het
Vmn2r25 T A 6: 123,829,984 (GRCm39) I56L probably benign Het
Zfp385c G A 11: 100,520,782 (GRCm39) P293S probably benign Het
Zfp473 T A 7: 44,383,899 (GRCm39) S144C probably damaging Het
Other mutations in Bpnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Bpnt1 APN 1 185,086,218 (GRCm39) nonsense probably null
IGL01526:Bpnt1 APN 1 185,077,591 (GRCm39) nonsense probably null
IGL01613:Bpnt1 APN 1 185,086,191 (GRCm39) missense possibly damaging 0.95
IGL01642:Bpnt1 APN 1 185,086,238 (GRCm39) missense probably benign 0.04
IGL02386:Bpnt1 APN 1 185,070,372 (GRCm39) missense probably damaging 0.97
doktor UTSW 1 185,088,786 (GRCm39) missense probably benign 0.09
wikken UTSW 1 185,077,504 (GRCm39) splice site probably null
R0398:Bpnt1 UTSW 1 185,070,355 (GRCm39) missense probably benign 0.00
R0646:Bpnt1 UTSW 1 185,077,623 (GRCm39) splice site probably null
R0671:Bpnt1 UTSW 1 185,088,808 (GRCm39) missense probably benign
R2944:Bpnt1 UTSW 1 185,084,406 (GRCm39) missense probably damaging 1.00
R4214:Bpnt1 UTSW 1 185,077,626 (GRCm39) splice site probably benign
R4323:Bpnt1 UTSW 1 185,088,786 (GRCm39) missense probably benign 0.09
R4805:Bpnt1 UTSW 1 185,077,504 (GRCm39) splice site probably null
R7000:Bpnt1 UTSW 1 185,082,053 (GRCm39) missense probably damaging 0.98
R7532:Bpnt1 UTSW 1 185,084,523 (GRCm39) missense possibly damaging 0.62
R7672:Bpnt1 UTSW 1 185,078,879 (GRCm39) missense probably damaging 0.98
R8080:Bpnt1 UTSW 1 185,084,406 (GRCm39) missense probably damaging 1.00
R9424:Bpnt1 UTSW 1 185,070,335 (GRCm39) missense possibly damaging 0.56
R9523:Bpnt1 UTSW 1 185,077,584 (GRCm39) missense probably damaging 0.99
Z1177:Bpnt1 UTSW 1 185,084,466 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
Posted On 2013-05-23