Incidental Mutation 'R5365:Bpnt2'
ID 423072
Institutional Source Beutler Lab
Gene Symbol Bpnt2
Ensembl Gene ENSMUSG00000066324
Gene Name 3'(2'), 5'-bisphosphate nucleotidase 2
Synonyms gPAPP, Impad1, 1110001C20Rik, Jaws
MMRRC Submission 042943-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5365 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 4762484-4793306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4776385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 190 (T190I)
Ref Sequence ENSEMBL: ENSMUSP00000082013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084949]
AlphaFold Q80V26
Predicted Effect probably damaging
Transcript: ENSMUST00000084949
AA Change: T190I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082013
Gene: ENSMUSG00000066324
AA Change: T190I

DomainStartEndE-ValueType
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: 95.3%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,578,629 (GRCm39) E4877G probably damaging Het
Acss3 C T 10: 106,840,589 (GRCm39) A391T probably damaging Het
Bcan T C 3: 87,896,542 (GRCm39) Y718C probably damaging Het
Bnc2 T C 4: 84,329,666 (GRCm39) probably benign Het
Card6 A G 15: 5,134,888 (GRCm39) V105A possibly damaging Het
Ceacam5 A G 7: 17,493,473 (GRCm39) Y832C probably damaging Het
Ces2e T C 8: 105,653,846 (GRCm39) probably null Het
Cpt1b A T 15: 89,304,310 (GRCm39) I480N possibly damaging Het
Csmd3 T C 15: 47,868,145 (GRCm39) T792A possibly damaging Het
Ctsq T A 13: 61,185,632 (GRCm39) I170F possibly damaging Het
Cyfip2 A G 11: 46,138,457 (GRCm39) S772P probably damaging Het
Cyp3a16 A C 5: 145,389,597 (GRCm39) M256R probably damaging Het
Dgkd C T 1: 87,863,138 (GRCm39) R62C probably damaging Het
Ephx3 A G 17: 32,408,223 (GRCm39) L67P probably damaging Het
Gpc2 A G 5: 138,273,885 (GRCm39) Y438H probably damaging Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Igkv9-120 T C 6: 68,027,433 (GRCm39) S116P probably benign Het
Itgal A G 7: 126,904,522 (GRCm39) I332V probably damaging Het
Lrit1 A G 14: 36,784,099 (GRCm39) T476A probably benign Het
Lrp1b T C 2: 40,537,137 (GRCm39) H50R possibly damaging Het
Marchf7 T C 2: 60,064,258 (GRCm39) V178A possibly damaging Het
Mbtps2 G A X: 156,351,295 (GRCm39) T157M possibly damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mill2 T C 7: 18,592,339 (GRCm39) V320A probably benign Het
Mtor G A 4: 148,634,587 (GRCm39) V2403M probably damaging Het
Nectin3 T A 16: 46,284,469 (GRCm39) K71* probably null Het
Or2g25 T A 17: 37,970,586 (GRCm39) I213F probably damaging Het
Otof T C 5: 30,539,144 (GRCm39) Y1090C probably damaging Het
Pigf A T 17: 87,331,136 (GRCm39) V62E possibly damaging Het
Pla1a A G 16: 38,237,569 (GRCm39) L43P probably benign Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Sbno1 TCCC TCC 5: 124,519,929 (GRCm39) probably null Het
Tgm4 A C 9: 122,895,866 (GRCm39) K223N probably damaging Het
Ttn G T 2: 76,744,990 (GRCm39) A5353E probably damaging Het
Ywhaq T C 12: 21,446,389 (GRCm39) E159G possibly damaging Het
Zdhhc12 A G 2: 29,983,521 (GRCm39) V27A probably damaging Het
Other mutations in Bpnt2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4603:Bpnt2 UTSW 4 4,767,878 (GRCm39) missense probably damaging 1.00
R5333:Bpnt2 UTSW 4 4,767,963 (GRCm39) missense possibly damaging 0.92
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'- ACCATAAAATCCTCACTGTAGTCAG -3'
(R):5'- ACCAAGTAACTAGGTCTCATGACTAC -3'

Sequencing Primer
(F):5'- TATACAAAGGTTGAGGACAGACTTC -3'
(R):5'- AGGTCTCATGACTACTTATTAGCTC -3'
Posted On 2016-08-04