Incidental Mutation 'R4214:Bpnt1'
ID 319328
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 041041-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R4214 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 185064346-185089974 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 185077626 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

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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Inositol_P 8 83 1.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193216
AA Change: S3T
Predicted Effect probably benign
Transcript: ENSMUST00000210277
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.5%
Validation Efficiency 98% (64/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik C T 1: 192,515,845 (GRCm39) noncoding transcript Het
Abca12 T A 1: 71,327,856 (GRCm39) D1408V probably damaging Het
Abca13 A T 11: 9,243,877 (GRCm39) L1913F probably damaging Het
Acad9 A G 3: 36,127,752 (GRCm39) E118G probably damaging Het
Adamts5 G A 16: 85,665,531 (GRCm39) A590V probably damaging Het
Ano6 A C 15: 95,863,790 (GRCm39) Y791S probably benign Het
Aox1 T C 1: 58,346,603 (GRCm39) probably null Het
Aox4 T A 1: 58,261,051 (GRCm39) I128N probably damaging Het
Atp2b3 A G X: 72,613,921 (GRCm39) M1142V probably benign Het
AU041133 A G 10: 81,987,223 (GRCm39) H292R probably damaging Het
Bco2 A G 9: 50,456,666 (GRCm39) M158T probably benign Het
Cadm1 A G 9: 47,708,741 (GRCm39) D157G probably damaging Het
Catsperg1 T C 7: 28,895,357 (GRCm39) R499G possibly damaging Het
Ccr7 T C 11: 99,035,872 (GRCm39) E350G probably damaging Het
Ceacam5 T A 7: 17,486,076 (GRCm39) S524R probably benign Het
Cep78 T C 19: 15,936,943 (GRCm39) T588A probably benign Het
Cfap65 T A 1: 74,966,840 (GRCm39) E282D possibly damaging Het
Drd2 A G 9: 49,316,221 (GRCm39) K327R probably benign Het
Erich5 C T 15: 34,471,557 (GRCm39) P262L possibly damaging Het
Ezh2 A C 6: 47,510,748 (GRCm39) D578E probably damaging Het
Fez1 A G 9: 36,781,784 (GRCm39) N20S probably damaging Het
Folr2 T G 7: 101,492,906 (GRCm39) K39T probably damaging Het
Gm10549 G T 18: 33,597,530 (GRCm39) probably null Het
Gm14393 C T 2: 174,903,640 (GRCm39) C89Y probably benign Het
Gm5329 T G 7: 31,671,828 (GRCm39) noncoding transcript Het
Gm7367 A G 7: 59,805,517 (GRCm39) noncoding transcript Het
Gpr162 A T 6: 124,837,031 (GRCm39) W338R probably damaging Het
Ift80 A T 3: 68,898,141 (GRCm39) F65I possibly damaging Het
Klra6 T G 6: 129,995,885 (GRCm39) I158L probably benign Het
Lpp T A 16: 24,580,804 (GRCm39) Y173* probably null Het
Lrp12 A G 15: 39,735,976 (GRCm39) V671A probably benign Het
Lrrc27 C T 7: 138,803,609 (GRCm39) R178C probably damaging Het
Lrrc49 G A 9: 60,573,609 (GRCm39) T225M probably benign Het
Megf8 T A 7: 25,054,793 (GRCm39) S1915T probably benign Het
Mmadhc T C 2: 50,181,344 (GRCm39) T109A probably benign Het
Mon2 T C 10: 122,852,397 (GRCm39) E992G probably benign Het
Msl3 A G X: 167,450,059 (GRCm39) I267T probably damaging Het
Msl3 A T X: 167,445,430 (GRCm39) N430K probably damaging Het
Nab2 G T 10: 127,500,917 (GRCm39) Y25* probably null Het
Notch3 T C 17: 32,351,181 (GRCm39) E1938G possibly damaging Het
Or5ae2 C T 7: 84,506,497 (GRCm39) H307Y probably benign Het
Osgepl1 A G 1: 53,354,167 (GRCm39) T44A probably damaging Het
Pdpr A G 8: 111,856,212 (GRCm39) probably benign Het
Pfkp A G 13: 6,669,261 (GRCm39) S241P probably damaging Het
Phgdh A T 3: 98,235,377 (GRCm39) S166T possibly damaging Het
Plcl1 C T 1: 55,790,494 (GRCm39) Q1055* probably null Het
Plscr2 A G 9: 92,169,790 (GRCm39) N80S probably benign Het
Polr3k A T 2: 181,510,035 (GRCm39) M80L probably benign Het
Prex2 A G 1: 11,171,383 (GRCm39) D304G probably damaging Het
Prex2 A G 1: 11,355,285 (GRCm39) T1529A probably damaging Het
Rcvrn A T 11: 67,586,514 (GRCm39) H91L possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Tbx18 T C 9: 87,606,518 (GRCm39) Y209C probably damaging Het
Themis3 T C 17: 66,867,012 (GRCm39) N76S probably benign Het
Trhde A T 10: 114,623,975 (GRCm39) S310T possibly damaging Het
Vmn1r213 G A 13: 23,196,173 (GRCm39) C252Y possibly damaging Het
Zfp523 T C 17: 28,420,003 (GRCm39) V216A probably benign 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
R0054:Bpnt1 UTSW 1 185,073,413 (GRCm39) splice site probably benign
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
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
(F):5'- GCTGCGTATCCTGTTAGACAG -3'
(R):5'- TGGTTTCAGAAGACAGGAGATC -3'

Sequencing Primer
(F):5'- AGCCACACGATGCATTGTG -3'
(R):5'- CAGGAGATCTGCAGAGGGC -3'
Posted On 2015-06-10