Mutagenetix > Incidental Mutation

Incidental Mutation 'R7000:Bpnt1'

544435

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

045105-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

185064346-185089974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 185082053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 165 (L165P)

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

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	8	303	7.1e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110965

SMART Domains

Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	1	248	2.8e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151769

SMART Domains

Protein: ENSMUSP00000117122
Gene: ENSMUSG00000026617

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	8	83	1.7e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210277
AA Change: L165P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,823 (GRCm39)	A525T	probably benign	Het
Abcc6	A	G	7: 45,654,946 (GRCm39)	I515T	possibly damaging	Het
Abi1	G	A	2: 22,832,053 (GRCm39)	A420V	probably damaging	Het
Abtb2	A	T	2: 103,542,787 (GRCm39)	I887F	possibly damaging	Het
Acap3	G	A	4: 155,988,306 (GRCm39)	G602S	possibly damaging	Het
Auts2	T	A	5: 131,469,056 (GRCm39)	T754S	probably benign	Het
AW551984	T	C	9: 39,512,085 (GRCm39)	R12G	probably benign	Het
Bcan	G	A	3: 87,895,686 (GRCm39)	R817*	probably null	Het
Bmp10	A	G	6: 87,411,175 (GRCm39)	T323A	probably benign	Het
Casz1	G	A	4: 149,013,693 (GRCm39)	A86T	probably damaging	Het
Ccn3	A	T	15: 54,615,743 (GRCm39)	T303S	probably damaging	Het
Cd1d2	T	C	3: 86,895,080 (GRCm39)	F189L	probably benign	Het
Cep72	A	G	13: 74,206,444 (GRCm39)	M126T	probably damaging	Het
Cep85l	T	A	10: 53,174,295 (GRCm39)	T483S	probably damaging	Het
Cfi	C	A	3: 129,666,522 (GRCm39)	T415K	probably damaging	Het
Chrna7	A	G	7: 62,755,787 (GRCm39)	L253S	probably damaging	Het
Col4a4	T	C	1: 82,475,051 (GRCm39)	H596R	unknown	Het
Cplx3	G	C	9: 57,523,231 (GRCm39)	Q109E	probably benign	Het
Cyp2j8	A	T	4: 96,335,588 (GRCm39)	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,399,980 (GRCm39)		probably null	Het
Dhdh	T	C	7: 45,124,698 (GRCm39)	K332E	possibly damaging	Het
Dnah11	C	A	12: 117,981,396 (GRCm39)	C2590F	probably damaging	Het
Dnah17	T	C	11: 117,916,528 (GRCm39)		probably null	Het
Dtx1	A	G	5: 120,833,148 (GRCm39)	Y97H	probably damaging	Het
Duxf1	T	C	10: 58,058,814 (GRCm39)	T647A	possibly damaging	Het
Elf1	A	G	14: 79,808,208 (GRCm39)	D183G	probably damaging	Het
Esyt3	A	C	9: 99,204,206 (GRCm39)	L94R	probably damaging	Het
Exoc3	A	G	13: 74,330,285 (GRCm39)	Y521H	probably benign	Het
F5	C	T	1: 164,007,075 (GRCm39)	T293M	probably damaging	Het
Fam118b	A	T	9: 35,146,560 (GRCm39)	H102Q	probably damaging	Het
Flad1	T	C	3: 89,309,549 (GRCm39)		probably benign	Het
Flrt3	G	A	2: 140,502,804 (GRCm39)	R275*	probably null	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Fscn1	T	A	5: 142,946,382 (GRCm39)	V60E	probably damaging	Het
Gm17175	A	T	14: 51,811,418 (GRCm39)	M1K	probably null	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,491,143 (GRCm39)	S694G	probably benign	Het
Iglon5	A	T	7: 43,126,254 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,361,892 (GRCm39)	T874A	probably benign	Het
Lamc2	T	A	1: 153,041,873 (GRCm39)	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,066,777 (GRCm39)	D37E	probably benign	Het
Loxhd1	T	C	18: 77,460,129 (GRCm39)		probably null	Het
Lxn	T	G	3: 67,369,704 (GRCm39)	E60D	probably benign	Het
Man2b2	A	G	5: 36,979,213 (GRCm39)	W276R	probably damaging	Het
Mast1	T	C	8: 85,655,598 (GRCm39)	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,058,897 (GRCm39)	R923Q	probably benign	Het
Obscn	A	G	11: 59,026,864 (GRCm39)	L113P	probably damaging	Het
Ocln	C	T	13: 100,671,470 (GRCm39)		probably null	Het
Oog2	A	T	4: 143,921,897 (GRCm39)	Q269L	probably damaging	Het
Or52e8	G	A	7: 104,624,338 (GRCm39)	P285S	probably damaging	Het
Or5b113	A	G	19: 13,341,987 (GRCm39)		probably benign	Het
Osbpl3	A	G	6: 50,274,137 (GRCm39)	S826P	probably damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Pamr1	G	A	2: 102,441,968 (GRCm39)	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,859,946 (GRCm39)	I334K	probably benign	Het
Pde7b	A	G	10: 20,319,038 (GRCm39)	S95P	probably damaging	Het
Pik3cg	A	T	12: 32,242,128 (GRCm39)	V994E	probably damaging	Het
Pkp1	T	C	1: 135,817,692 (GRCm39)	M148V	probably benign	Het
Plbd1	T	G	6: 136,589,836 (GRCm39)	K461Q	probably benign	Het
Pmfbp1	A	G	8: 110,257,221 (GRCm39)	E594G	possibly damaging	Het
Pold3	A	T	7: 99,755,865 (GRCm39)	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,487,783 (GRCm39)	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,357,828 (GRCm39)		probably null	Het
Scarb2	T	C	5: 92,601,934 (GRCm39)	D320G	probably benign	Het
Sdk2	T	C	11: 113,693,995 (GRCm39)	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,794,222 (GRCm39)	T204N	probably benign	Het
Slc23a2	T	C	2: 131,936,123 (GRCm39)	Q49R	possibly damaging	Het
Slc26a7	T	C	4: 14,552,476 (GRCm39)	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108 (GRCm38)	T94I	probably damaging	Het
Spem2	C	T	11: 69,708,582 (GRCm39)	G128S	probably benign	Het
Supt16	A	T	14: 52,408,907 (GRCm39)	S822R	probably damaging	Het
Syn3	T	C	10: 85,916,116 (GRCm39)	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,938,599 (GRCm39)	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302 (GRCm39)	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,531,987 (GRCm39)	V148A	probably damaging	Het
Trim24	C	A	6: 37,935,613 (GRCm39)	T832K	probably benign	Het
Ubr4	C	T	4: 139,141,715 (GRCm39)	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,490,492 (GRCm39)	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,593,762 (GRCm39)	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,208,819 (GRCm39)	C553S	probably damaging	Het
Vps37c	G	T	19: 10,687,693 (GRCm39)	E51D	probably damaging	Het
Zfp62	T	G	11: 49,107,206 (GRCm39)	Y432*	probably null	Het

Other mutations in Bpnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CACAATAGTACACTTGGGTGCAG -3'
(R):5'- ACTTGTTGCAACACACGATAAGG -3'

Sequencing Primer
(F):5'- GTGCAGGTTTGTAATTTTAACAGTCC -3'
(R):5'- CACACGATAAGGCACACAGAGG -3'

Posted On

2019-05-13