Mutagenetix > Incidental Mutation

Incidental Mutation 'R4603:Bpnt2'

345767

Institutional Source

Beutler Lab

Gene Symbol

Bpnt2

Ensembl Gene

ENSMUSG00000066324

Gene Name

3'(2'), 5'-bisphosphate nucleotidase 2

Synonyms

gPAPP, Impad1, 1110001C20Rik, Jaws

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4762484-4793306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4767878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 299 (I299M)

Ref Sequence

ENSEMBL: ENSMUSP00000082013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084949]

AlphaFold

Q80V26

Predicted Effect

probably damaging
Transcript: ENSMUST00000084949
AA Change: I299M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082013
Gene: ENSMUSG00000066324
AA Change: I299M

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Inositol_P	60	353	1.5e-42	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mutants are neonatal lethal with growth retardation. Mutant embryo shows craniofacial abnormalities and shortened limbs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,029,019 (GRCm39)	V60A	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,798 (GRCm39)	V397A	probably benign	Het
Afg3l1	A	G	8: 124,228,674 (GRCm39)	T747A	probably benign	Het
Aldh4a1	T	C	4: 139,370,740 (GRCm39)	S408P	probably damaging	Het
Ank2	T	C	3: 126,825,665 (GRCm39)	T445A	probably benign	Het
Antxrl	A	G	14: 33,797,792 (GRCm39)	E589G	possibly damaging	Het
Arhgef12	C	T	9: 42,921,489 (GRCm39)	G329R	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Brca2	T	A	5: 150,459,630 (GRCm39)	C302S	possibly damaging	Het
Ccdc169	T	A	3: 55,058,226 (GRCm39)	M4K	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Cdc73	T	C	1: 143,553,595 (GRCm39)		probably null	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Cse1l	T	C	2: 166,786,452 (GRCm39)	V604A	probably benign	Het
Cxcr1	G	C	1: 74,231,896 (GRCm39)	T42S	probably benign	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erp27	A	G	6: 136,896,947 (GRCm39)	V85A	probably damaging	Het
Fam3d	T	A	14: 8,358,429 (GRCm38)	S57C	probably damaging	Het
Fgf8	T	G	19: 45,726,592 (GRCm39)	I137L	probably benign	Het
Fgfrl1	T	A	5: 108,851,401 (GRCm39)	V106D	probably damaging	Het
Gaa	T	C	11: 119,169,784 (GRCm39)	W613R	probably damaging	Het
Gabarap	A	G	11: 69,885,287 (GRCm39)	N66S	probably benign	Het
Gp1bb	A	T	16: 18,439,893 (GRCm39)	L67Q	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Gstt1	T	C	10: 75,629,969 (GRCm39)	Y48C	probably damaging	Het
Iqcg	C	T	16: 32,861,134 (GRCm39)	R194K	probably null	Het
Iqcg	C	G	16: 32,861,133 (GRCm39)		probably null	Het
Kcnj3	C	T	2: 55,336,991 (GRCm39)	R286*	probably null	Het
Klhl38	T	A	15: 58,186,616 (GRCm39)	I38F	possibly damaging	Het
Kmo	C	A	1: 175,479,208 (GRCm39)	P248Q	probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mprip	T	C	11: 59,622,399 (GRCm39)	V162A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,078,571 (GRCm39)	D408G	possibly damaging	Het
Myt1l	A	G	12: 29,892,539 (GRCm39)	T59A	probably benign	Het
Ndufb7	A	G	8: 84,293,494 (GRCm39)	E16G	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nploc4	C	T	11: 120,276,613 (GRCm39)	V478I	probably benign	Het
Nrap	A	G	19: 56,323,456 (GRCm39)		probably null	Het
Or5e1	A	T	7: 108,354,834 (GRCm39)	Y257F	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pdss2	T	C	10: 43,248,197 (GRCm39)	S234P	probably damaging	Het
Pias2	T	A	18: 77,217,803 (GRCm39)	V335E	probably damaging	Het
Ppip5k2	C	A	1: 97,682,861 (GRCm39)	K187N	probably damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ppp4r1	T	G	17: 66,120,459 (GRCm39)	C181G	probably damaging	Het
Pramel27	T	A	4: 143,579,451 (GRCm39)	H345Q	probably benign	Het
Prkdc	G	A	16: 15,628,688 (GRCm39)	E3478K	probably damaging	Het
Prpf4b	T	C	13: 35,072,147 (GRCm39)		probably benign	Het
Psme3	T	A	11: 101,208,435 (GRCm39)		probably null	Het
Ptpre	C	A	7: 135,269,372 (GRCm39)	Y284*	probably null	Het
Scnn1a	A	G	6: 125,299,123 (GRCm39)	I94V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Shc2	T	C	10: 79,459,690 (GRCm39)	D418G	probably benign	Het
Sidt1	A	T	16: 44,075,389 (GRCm39)	D661E	probably damaging	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Sorcs1	A	G	19: 50,301,402 (GRCm39)		probably null	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Tmem270	C	A	5: 134,930,482 (GRCm39)	E260*	probably null	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Trim46	A	G	3: 89,150,958 (GRCm39)	F188S	probably benign	Het
Trim7	T	A	11: 48,728,355 (GRCm39)	M1K	probably null	Het
Txnip	A	G	3: 96,465,604 (GRCm39)	E18G	probably benign	Het
Usp34	A	G	11: 23,414,633 (GRCm39)	N2859D	probably damaging	Het
Vmn2r94	T	A	17: 18,477,647 (GRCm39)	I255F	probably benign	Het
Xkr5	T	A	8: 18,983,733 (GRCm39)	N603I	possibly damaging	Het
Zfp512	C	T	5: 31,637,570 (GRCm39)	A497V	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het

Other mutations in Bpnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Bpnt2	APN	4	4,776,308 (GRCm39)	splice site	probably benign
IGL02609:Bpnt2	APN	4	4,767,763 (GRCm39)	nonsense	probably null
R1651:Bpnt2	UTSW	4	4,792,737 (GRCm39)	missense	probably damaging	1.00
R2571:Bpnt2	UTSW	4	4,778,192 (GRCm39)	critical splice donor site	probably null
R4288:Bpnt2	UTSW	4	4,778,231 (GRCm39)	missense	probably damaging	1.00
R5333:Bpnt2	UTSW	4	4,767,963 (GRCm39)	missense	possibly damaging	0.92
R5365:Bpnt2	UTSW	4	4,776,385 (GRCm39)	missense	probably damaging	1.00
R7275:Bpnt2	UTSW	4	4,792,962 (GRCm39)	missense	probably damaging	0.98
R7599:Bpnt2	UTSW	4	4,778,207 (GRCm39)	missense	probably damaging	1.00
R7756:Bpnt2	UTSW	4	4,769,385 (GRCm39)	missense	probably damaging	1.00
R8480:Bpnt2	UTSW	4	4,769,376 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGAGGTGCATCTTGTGGTC -3'
(R):5'- TATGAAGGCTTCACTCTGTTCC -3'

Sequencing Primer
(F):5'- GGTCAGGAATGCTTACTAATGTCC -3'
(R):5'- GAAGGCTTCACTCTGTTCCATTTAAC -3'

Posted On

2015-09-25