Incidental Mutation 'IGL02517:Enpp3'
ID296855
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: 0.284) question?
Stock #IGL02517
Quality Score
Status
Chromosome10
Chromosomal Location24772406-24842823 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 24809848 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169] [ENSMUST00000217903] [ENSMUST00000219342]
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: 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
4932438A13Rik A G 3: 36,958,868 E1899G probably damaging Het
Acnat2 T G 4: 49,380,647 M244L possibly damaging Het
Acnat2 A T 4: 49,380,639 C228* probably null Het
Adam24 T C 8: 40,680,179 S229P probably damaging Het
Alpk3 T C 7: 81,077,895 S258P probably benign Het
Atad2b A G 12: 5,018,037 T1012A probably benign Het
C4b A T 17: 34,734,408 S1034T probably benign Het
Cd300ld2 T A 11: 115,010,423 H277L possibly damaging Het
Chrna4 C T 2: 181,029,133 V277I probably benign Het
Col3a1 A G 1: 45,325,803 probably null Het
Dpep2 C T 8: 105,988,756 V369M probably damaging Het
Eml2 T A 7: 19,206,130 N815K probably damaging Het
Git1 T C 11: 77,499,587 V86A probably benign Het
Hivep2 C T 10: 14,131,182 P1175S probably benign Het
Hydin T C 8: 110,566,972 I3517T probably benign Het
Ift172 T A 5: 31,253,648 probably null Het
Jmy A G 13: 93,452,808 I647T probably benign Het
Kifap3 T A 1: 163,825,871 probably benign Het
Lama3 G A 18: 12,537,858 probably null Het
Lipa A C 19: 34,494,122 I351S possibly damaging Het
Ltbp2 G T 12: 84,785,317 A1631D probably benign Het
Masp2 A G 4: 148,614,020 I519M probably damaging Het
Mfsd6 A G 1: 52,663,277 probably benign Het
Numa1 T G 7: 102,012,009 D1846E probably benign Het
Olfr12 A T 1: 92,620,461 Y185F probably benign Het
Olfr1440 A T 19: 12,394,901 I213F probably benign Het
Olfr745 A G 14: 50,643,201 T301A probably benign Het
Olfr918 T C 9: 38,672,913 Y177C probably damaging Het
Olfr968 T G 9: 39,772,504 T99P probably damaging Het
Oog3 A T 4: 144,159,350 I226K probably damaging Het
Pkdcc T C 17: 83,223,866 S435P probably damaging Het
Ppm1g A G 5: 31,208,081 Y70H probably damaging Het
Prcc C T 3: 87,869,677 S330N probably damaging Het
Ror2 A T 13: 53,118,840 L251Q probably damaging Het
Scn11a A G 9: 119,792,398 L651P probably damaging Het
Skint6 A T 4: 112,948,540 probably benign Het
Slc23a4 A G 6: 34,954,982 F186L probably benign Het
Slc30a8 A T 15: 52,335,134 D325V probably benign Het
Son C T 16: 91,655,211 T282M possibly damaging Het
Tas2r118 A T 6: 23,969,892 F57I probably damaging Het
Tcf7l1 A G 6: 72,629,983 S447P probably benign Het
Thsd1 T A 8: 22,243,438 V167E probably damaging Het
Tle3 T C 9: 61,414,781 V696A probably damaging Het
Tmem67 A T 4: 12,069,463 I405K possibly damaging Het
Tmem71 A C 15: 66,541,617 V202G probably benign Het
Trim6 T C 7: 104,232,357 probably benign Het
Trip12 A G 1: 84,743,814 probably benign Het
Ubr1 A C 2: 120,864,373 C1693G possibly damaging Het
Ush2a G A 1: 188,915,998 R4600H probably damaging Het
Vil1 A G 1: 74,426,692 I547M probably benign Het
Vmn1r219 A T 13: 23,163,096 I152L probably benign Het
Vmn1r26 A G 6: 58,009,142 F21L possibly damaging Het
Vmn2r45 T A 7: 8,483,186 K368* probably null Het
Vmn2r68 C T 7: 85,221,945 W710* probably null Het
Zfp808 T A 13: 62,173,218 *754R probably null Het
Zyg11b C T 4: 108,266,318 E151K 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
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
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 On2015-04-16