Incidental Mutation 'IGL01343:Enpp3'
ID74922
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: 0.263) question?
Stock #IGL01343
Quality Score
Status
Chromosome10
Chromosomal Location24772406-24842823 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 24805922 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 295 (Y295*)
Ref Sequence ENSEMBL: ENSMUSP00000020169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169] [ENSMUST00000217903] [ENSMUST00000219342]
Predicted Effect probably null
Transcript: ENSMUST00000020169
AA Change: Y295*
SMART Domains Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: Y295*

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: ENSMUST00000217903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218619
Predicted Effect probably benign
Transcript: ENSMUST00000219342
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,150,702 Q1191R probably benign Het
Abcd2 A T 15: 91,149,213 probably benign Het
Adgrf1 T A 17: 43,313,195 F835L probably null Het
Akp3 G T 1: 87,127,136 probably benign Het
BC106179 G T 16: 23,224,287 probably benign Het
Bysl C A 17: 47,601,889 M325I probably benign Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Crnn A G 3: 93,148,326 R140G probably benign Het
Cts8 T C 13: 61,249,196 probably benign Het
Cxcr4 T C 1: 128,589,555 Y121C probably damaging Het
Ddr2 T C 1: 169,984,581 T691A probably benign Het
Dhx30 A T 9: 110,086,245 F782I probably benign Het
Efcab5 C T 11: 77,129,930 G655D probably damaging Het
Eif2ak4 G A 2: 118,422,089 V381I probably benign Het
Fbxo28 T C 1: 182,317,012 E329G probably damaging Het
Fmnl2 T A 2: 53,123,545 V972D probably damaging Het
Fmr1 A G X: 68,688,295 D22G probably damaging Het
Fsip2 A G 2: 82,999,819 T6886A possibly damaging Het
Gadl1 A G 9: 116,074,112 *503W probably null Het
Gpc6 A T 14: 117,186,812 K104I possibly damaging Het
Hecw2 T A 1: 53,826,976 T1509S probably damaging Het
Lonp1 A G 17: 56,615,586 L680P possibly damaging Het
Lrrc66 A T 5: 73,608,463 N412K probably damaging Het
Marco C T 1: 120,494,740 probably null Het
Mdga2 T C 12: 66,723,109 T206A probably damaging Het
Mogat2 C A 7: 99,232,568 A54S possibly damaging Het
Myh15 T A 16: 49,155,677 D1369E probably benign Het
Nckap1 A T 2: 80,519,842 S840T possibly damaging Het
Ncor1 C T 11: 62,325,486 probably null Het
Nfrkb C A 9: 31,388,954 L14I probably damaging Het
Notch1 C A 2: 26,472,905 A950S probably benign Het
Notch3 T C 17: 32,143,436 E1405G probably benign Het
Nsd2 C A 5: 33,843,578 D146E probably damaging Het
Oc90 T C 15: 65,889,591 T193A probably benign Het
Olfr1090 T A 2: 86,754,499 K80* probably null Het
Olfr1356 A T 10: 78,847,597 V106E probably damaging Het
Olfr150 C A 9: 39,737,715 A300D probably damaging Het
Orc2 A T 1: 58,492,855 probably null Het
Pacsin2 T C 15: 83,386,686 H254R probably damaging Het
Pif1 T A 9: 65,589,562 M319K probably damaging Het
Prag1 G A 8: 36,103,046 R261H possibly damaging Het
Ptprq G A 10: 107,638,839 T1335I probably damaging Het
Ryr3 A G 2: 112,660,054 Y3812H probably damaging Het
Sgo2b G A 8: 63,927,315 Q828* probably null Het
Skint6 A G 4: 113,283,626 V6A probably benign Het
Slc16a13 A G 11: 70,220,514 I55T probably damaging Het
Slc22a3 A T 17: 12,425,629 W490R probably damaging Het
Speer4b G T 5: 27,497,883 H208N probably benign Het
Tas2r124 T C 6: 132,755,415 L229S probably damaging Het
Tlr4 T C 4: 66,833,887 probably benign Het
Tmed1 G T 9: 21,510,073 T35K probably damaging Het
Tubgcp5 C A 7: 55,796,031 probably benign Het
Ugt2b34 A G 5: 86,904,388 S250P possibly damaging Het
Zfp516 A G 18: 82,993,096 T1085A probably damaging Het
Znfx1 T C 2: 167,037,363 I1698V probably benign Het
Zswim8 G T 14: 20,713,341 W385C probably damaging 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
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
IGL02956:Enpp3 APN 10 24774943 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 On2013-10-07