Incidental Mutation 'IGL02956:Enpp3'
ID365144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Nameectonucleotide pyrophosphatase/phosphodiesterase 3
SynonymsCD203c
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.252) question?
Stock #IGL02956
Quality Score
Status
Chromosome10
Chromosomal Location24772406-24842823 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 24774943 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169]
Predicted Effect probably benign
Transcript: ENSMUST00000020169
SMART Domains Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
SO 50 93 1.99e-13 SMART
SO 94 137 7.66e-15 SMART
Pfam:Phosphodiest 161 485 1.7e-87 PFAM
Blast:Endonuclease_NS 543 599 9e-15 BLAST
Endonuclease_NS 626 847 5.41e-16 SMART
NUC 627 856 1.54e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000218343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219861
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit increased numbers of basophils and mast cells with increased susceptibility to chronic allergic responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik A G 14: 12,287,326 N29S probably benign Het
5830473C10Rik A G 5: 90,579,638 I372V possibly damaging Het
Adamts13 C T 2: 26,983,037 A339V probably benign Het
Adck2 T C 6: 39,576,502 V349A probably benign Het
Akna G T 4: 63,386,279 T546K probably benign Het
Ankrd29 T C 18: 12,260,936 K274E probably damaging Het
Apc2 A T 10: 80,306,375 N376I probably damaging Het
Cadps A G 14: 12,418,047 probably benign Het
Cbl T C 9: 44,169,034 T243A probably damaging Het
Cfap52 T C 11: 67,954,075 E56G probably benign Het
Chd5 C A 4: 152,379,956 P1561Q probably benign Het
Dscam A G 16: 96,801,272 S657P probably damaging Het
Ece1 T C 4: 137,962,838 F732L probably damaging Het
Eno2 T C 6: 124,763,119 D199G probably damaging Het
Fbxl15 G T 19: 46,329,251 C124F probably damaging Het
Fermt3 T C 19: 7,002,344 S474G probably benign Het
Fkbp6 T C 5: 135,339,496 E252G probably damaging Het
Gm6625 A T 8: 89,147,039 noncoding transcript Het
Gnl1 T C 17: 35,987,612 I416T probably benign Het
Gp1bb C A 16: 18,620,925 A140S probably benign Het
Grin2c A G 11: 115,257,959 V271A possibly damaging Het
Heatr1 T A 13: 12,416,059 S1012T possibly damaging Het
Ighv5-6 T A 12: 113,625,903 probably benign Het
Itga10 A G 3: 96,655,113 E737G possibly damaging Het
Lmod2 A C 6: 24,603,632 N202T probably damaging Het
Lrp1 C T 10: 127,544,559 V3908I probably benign Het
Lrrtm4 T C 6: 80,021,650 V15A probably benign Het
Mup4 A T 4: 59,959,263 D77E probably benign Het
Myh7b A T 2: 155,632,903 E1787V probably damaging Het
Myh7b T A 2: 155,625,954 M804K possibly damaging Het
Nup133 T C 8: 123,949,083 S32G probably benign Het
Olfr145 A G 9: 37,898,108 K235E probably damaging Het
Olfr159 T A 4: 43,770,399 N204I probably benign Het
Olfr648 T C 7: 104,180,127 I94V probably damaging Het
Olfr77 T C 9: 19,921,052 V281A possibly damaging Het
Polr2m T C 9: 71,483,629 D97G possibly damaging Het
Pou2f3 A G 9: 43,142,805 probably benign Het
Rex1bd C A 8: 70,505,902 V72F possibly damaging Het
Rgp1 A G 4: 43,581,505 T261A possibly damaging Het
Satb2 A G 1: 56,948,175 F84L probably damaging Het
Sec14l1 G A 11: 117,153,147 D494N probably benign Het
Spn G A 7: 127,137,260 T25M probably damaging Het
Trp73 G A 4: 154,064,463 probably benign Het
Tsc22d2 A G 3: 58,417,546 T620A unknown Het
Zfp276 T C 8: 123,254,744 L10P probably damaging Het
Zfp93 T A 7: 24,274,975 N128K probably benign Het
Other mutations in Enpp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Enpp3 APN 10 24787772 missense probably benign 0.00
IGL00778:Enpp3 APN 10 24798262 missense probably damaging 1.00
IGL01147:Enpp3 APN 10 24774907 missense probably damaging 1.00
IGL01343:Enpp3 APN 10 24805922 nonsense probably null
IGL01642:Enpp3 APN 10 24798269 missense probably damaging 1.00
IGL01814:Enpp3 APN 10 24792025 missense possibly damaging 0.68
IGL02083:Enpp3 APN 10 24776794 missense probably damaging 1.00
IGL02152:Enpp3 APN 10 24774002 missense probably damaging 1.00
IGL02186:Enpp3 APN 10 24791983 splice site probably benign
IGL02517:Enpp3 APN 10 24809848 splice site probably benign
R0017:Enpp3 UTSW 10 24799153 splice site probably null
R0042:Enpp3 UTSW 10 24774824 missense probably damaging 1.00
R0110:Enpp3 UTSW 10 24776781 missense probably damaging 1.00
R0218:Enpp3 UTSW 10 24776869 missense possibly damaging 0.80
R0403:Enpp3 UTSW 10 24804436 missense probably damaging 1.00
R0433:Enpp3 UTSW 10 24820597 missense probably benign 0.00
R0450:Enpp3 UTSW 10 24776781 missense probably damaging 1.00
R0510:Enpp3 UTSW 10 24776781 missense probably damaging 1.00
R0826:Enpp3 UTSW 10 24795716 missense probably damaging 1.00
R1245:Enpp3 UTSW 10 24784953 splice site probably benign
R1261:Enpp3 UTSW 10 24774934 missense probably damaging 0.97
R1633:Enpp3 UTSW 10 24795782 missense probably damaging 1.00
R1903:Enpp3 UTSW 10 24778789 missense probably damaging 1.00
R1913:Enpp3 UTSW 10 24776771 nonsense probably null
R1966:Enpp3 UTSW 10 24807491 missense probably damaging 0.99
R2157:Enpp3 UTSW 10 24776878 missense probably damaging 1.00
R2179:Enpp3 UTSW 10 24805895 missense probably benign 0.00
R2380:Enpp3 UTSW 10 24776872 missense probably benign
R2410:Enpp3 UTSW 10 24774818 missense probably benign 0.00
R3794:Enpp3 UTSW 10 24831732 splice site probably null
R3896:Enpp3 UTSW 10 24777949 missense possibly damaging 0.79
R4334:Enpp3 UTSW 10 24793589 missense probably damaging 1.00
R4569:Enpp3 UTSW 10 24776882 missense probably damaging 1.00
R4766:Enpp3 UTSW 10 24773927 missense probably damaging 1.00
R4951:Enpp3 UTSW 10 24798277 missense probably damaging 1.00
R4998:Enpp3 UTSW 10 24807538 missense probably benign 0.01
R5045:Enpp3 UTSW 10 24776767 missense probably damaging 1.00
R5276:Enpp3 UTSW 10 24809916 missense probably damaging 1.00
R5331:Enpp3 UTSW 10 24808160 missense probably damaging 1.00
R5569:Enpp3 UTSW 10 24778821 missense probably damaging 0.98
R5975:Enpp3 UTSW 10 24774842 missense probably benign 0.37
R6117:Enpp3 UTSW 10 24787852 missense probably damaging 1.00
R6419:Enpp3 UTSW 10 24808191 missense probably damaging 1.00
R6677:Enpp3 UTSW 10 24777957 missense possibly damaging 0.88
R6735:Enpp3 UTSW 10 24807453 missense probably damaging 1.00
R6833:Enpp3 UTSW 10 24809870 missense probably damaging 1.00
R6999:Enpp3 UTSW 10 24808166 missense probably damaging 1.00
R7022:Enpp3 UTSW 10 24826195 missense probably damaging 0.99
R7173:Enpp3 UTSW 10 24774047 missense probably damaging 1.00
R7224:Enpp3 UTSW 10 24776884 missense possibly damaging 0.63
R7227:Enpp3 UTSW 10 24817844 missense unknown
X0026:Enpp3 UTSW 10 24826242 missense probably damaging 1.00
Posted On2015-12-18