Incidental Mutation 'R2944:Bpnt1'
ID 264612
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 040518-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R2944 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 185064346-185089974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 185084406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 168 (T168A)
Ref Sequence ENSEMBL: ENSMUSP00000027916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027916] [ENSMUST00000110965] [ENSMUST00000210277]
AlphaFold Q9Z0S1
Predicted Effect probably damaging
Transcript: ENSMUST00000027916
AA Change: T168A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
AA Change: T168A

DomainStartEndE-ValueType
Pfam:Inositol_P 8 303 7.1e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110965
AA Change: T113A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617
AA Change: T113A

DomainStartEndE-ValueType
Pfam:Inositol_P 1 248 2.8e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210277
AA Change: T183A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T C 7: 133,577,236 (GRCm39) M179V probably null Het
Alms1 C T 6: 85,605,373 (GRCm39) T2341I probably damaging Het
Cdcp2 A C 4: 106,959,755 (GRCm39) S57R possibly damaging Het
Cmya5 T A 13: 93,229,350 (GRCm39) K1913* probably null Het
Coro1c C G 5: 113,988,861 (GRCm39) G161R probably damaging Het
Csnk1a1 T C 18: 61,711,760 (GRCm39) M258T probably benign Het
Dnah3 A G 7: 119,550,333 (GRCm39) C3318R probably damaging Het
Fyco1 A T 9: 123,655,713 (GRCm39) M1015K probably benign Het
Hfm1 A G 5: 107,020,196 (GRCm39) S290P probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lce1i G A 3: 92,685,063 (GRCm39) P38S unknown Het
Nup210l T A 3: 90,088,852 (GRCm39) S1156T probably damaging Het
Or8g35 A T 9: 39,381,234 (GRCm39) S263T possibly damaging Het
Sec14l5 T A 16: 4,998,697 (GRCm39) I579N probably benign Het
Semp2l2a A T 8: 13,887,212 (GRCm39) L293Q probably damaging Het
Sh3tc1 C A 5: 35,871,504 (GRCm39) V107L probably damaging Het
Tmprss11a T G 5: 86,576,511 (GRCm39) R113S probably benign Het
Trmt10b A G 4: 45,300,445 (GRCm39) M1V probably null Het
Ush1c T C 7: 45,850,406 (GRCm39) E791G probably damaging Het
Uspl1 T C 5: 149,138,606 (GRCm39) L328P probably damaging Het
Utrn G T 10: 12,519,163 (GRCm39) T2263K 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
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
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
(F):5'- AGGTCACTTCCTGAGGAGTTC -3'
(R):5'- AGCATACTTCAGAGCCAATGG -3'

Sequencing Primer
(F):5'- CAGAGTATTGCCAGGACAAATTAC -3'
(R):5'- AATGGCACTTCTCTGTACCTTG -3'
Posted On 2015-02-05