Incidental Mutation 'R7532:Bpnt1'
ID 583344
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 045604-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R7532 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 185064346-185089974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 185084523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 207 (I207F)
Ref Sequence ENSEMBL: ENSMUSP00000027916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027916] [ENSMUST00000110965] [ENSMUST00000210277]
AlphaFold Q9Z0S1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027916
AA Change: I207F

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
AA Change: I207F

DomainStartEndE-ValueType
Pfam:Inositol_P 8 303 7.1e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110965
AA Change: I152F

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617
AA Change: I152F

DomainStartEndE-ValueType
Pfam:Inositol_P 1 248 2.8e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210277
AA Change: I222F

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,220,589 (GRCm39) I174K probably damaging Het
Ano2 A T 6: 125,940,667 (GRCm39) I597F probably damaging Het
Ap1g1 T C 8: 110,586,796 (GRCm39) V813A probably damaging Het
Brinp3 T A 1: 146,777,139 (GRCm39) W529R probably damaging Het
C2cd2l C T 9: 44,226,681 (GRCm39) R355Q probably benign Het
Ccser1 T A 6: 62,356,915 (GRCm39) C784* probably null Het
Cdh20 A T 1: 110,065,889 (GRCm39) D721V probably damaging Het
Chd9 A G 8: 91,721,193 (GRCm39) I994V unknown Het
Cst13 T G 2: 148,665,127 (GRCm39) Y41D probably benign Het
Cyth2 C T 7: 45,457,448 (GRCm39) A342T probably benign Het
Dapk1 T C 13: 60,878,700 (GRCm39) L563P probably damaging Het
Dclk3 T G 9: 111,296,596 (GRCm39) S47A probably benign Het
Dync1h1 C A 12: 110,618,011 (GRCm39) N3183K probably benign Het
Enpp1 C T 10: 24,551,885 (GRCm39) V165M probably benign Het
Ephx3 T C 17: 32,407,763 (GRCm39) N173S possibly damaging Het
Erc1 T A 6: 119,756,592 (GRCm39) D388V probably benign Het
Esp34 T G 17: 38,870,511 (GRCm39) V135G possibly damaging Het
Gfy G A 7: 44,827,461 (GRCm39) P212S probably damaging Het
Gm5239 C T 18: 35,669,795 (GRCm39) R54C probably benign Het
Gtpbp3 T C 8: 71,942,107 (GRCm39) F113L probably benign Het
Hectd1 T A 12: 51,837,233 (GRCm39) D775V probably damaging Het
Ifrd2 T G 9: 107,469,721 (GRCm39) S431R probably damaging Het
Impg2 G A 16: 56,087,543 (GRCm39) A1121T probably damaging Het
Irx1 A G 13: 72,108,314 (GRCm39) F123L possibly damaging Het
Itgb6 C T 2: 60,499,557 (GRCm39) V79I probably benign Het
Kcnd3 G A 3: 105,575,526 (GRCm39) R550H probably damaging Het
Klhl9 A T 4: 88,639,090 (GRCm39) S384T possibly damaging Het
Kng2 T C 16: 22,845,794 (GRCm39) probably null Het
Lipo3 T C 19: 33,560,464 (GRCm39) N67S possibly damaging Het
Mgst1 T C 6: 138,130,504 (GRCm39) S78P probably benign Het
Ms4a14 A G 19: 11,281,323 (GRCm39) Y412H possibly damaging Het
Mucl2 A C 15: 103,926,318 (GRCm39) I124S unknown Het
Myh3 A G 11: 66,981,921 (GRCm39) M806V probably benign Het
Nelfcd T C 2: 174,268,189 (GRCm39) L501P probably damaging Het
Nlrp6 C A 7: 140,505,097 (GRCm39) P748Q probably benign Het
Or1j13 C T 2: 36,370,138 (GRCm39) M1I probably null Het
Or6n2 T C 1: 173,897,664 (GRCm39) S267P probably benign Het
Plxna2 G A 1: 194,327,127 (GRCm39) A354T probably benign Het
Prpf39 G T 12: 65,100,145 (GRCm39) V273L probably benign Het
Rad9a T C 19: 4,251,522 (GRCm39) probably benign Het
Rnf135 A G 11: 80,089,732 (GRCm39) D356G probably benign Het
Rragd G T 4: 33,004,166 (GRCm39) A153S possibly damaging Het
Selenot G T 3: 58,492,653 (GRCm39) V47L probably benign Het
Smc2 T C 4: 52,451,013 (GRCm39) L277P probably damaging Het
Sp7 A G 15: 102,267,584 (GRCm39) F92S possibly damaging Het
Spata1 A T 3: 146,173,946 (GRCm39) I380N possibly damaging Het
Spdye4b G T 5: 143,180,652 (GRCm39) R39S possibly damaging Het
Spmip9 T C 6: 70,890,621 (GRCm39) K57R probably benign Het
Stom C A 2: 35,211,589 (GRCm39) R144L possibly damaging Het
Tsc22d1 T C 14: 76,653,486 (GRCm39) probably benign Het
Unc13b A G 4: 43,249,565 (GRCm39) T998A probably benign Het
Vcl C A 14: 21,079,392 (GRCm39) A965D probably damaging Het
Vmn1r69 A T 7: 10,314,281 (GRCm39) V150D probably damaging Het
Vmn1r90 T G 7: 14,295,189 (GRCm39) N303T possibly damaging Het
Vmn2r69 A T 7: 85,059,622 (GRCm39) M429K probably benign Het
Vmn2r8 T A 5: 108,950,106 (GRCm39) Y247F probably benign Het
Washc5 A T 15: 59,239,260 (GRCm39) S168T possibly 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
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
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'- TGACTGAGCCTTGTTGTCATC -3'
(R):5'- AAACCTGCCACAAAGCTTTG -3'

Sequencing Primer
(F):5'- TGTTGTCATCTCACACAGGCAGG -3'
(R):5'- AGTGTCACTAAGTTGCCCAG -3'
Posted On 2019-10-17