Incidental Mutation 'IGL01343:Enpp3'
ID 74922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 3
Synonyms CD203c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL01343
Quality Score
Status
Chromosome 10
Chromosomal Location 24649712-24712093 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 24681820 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6DYE8
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
Abcd2 A T 15: 91,033,416 (GRCm39) probably benign Het
Adgrf1 T A 17: 43,624,086 (GRCm39) F835L probably null Het
Akp3 G T 1: 87,054,858 (GRCm39) probably benign Het
BC106179 G T 16: 23,043,037 (GRCm39) probably benign Het
Bysl C A 17: 47,912,814 (GRCm39) M325I probably benign Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Crnn A G 3: 93,055,633 (GRCm39) R140G probably benign Het
Cts8 T C 13: 61,397,010 (GRCm39) probably benign Het
Cxcr4 T C 1: 128,517,292 (GRCm39) Y121C probably damaging Het
Ddr2 T C 1: 169,812,150 (GRCm39) T691A probably benign Het
Dhx30 A T 9: 109,915,313 (GRCm39) F782I probably benign Het
Efcab5 C T 11: 77,020,756 (GRCm39) G655D probably damaging Het
Eif2ak4 G A 2: 118,252,570 (GRCm39) V381I probably benign Het
Fbxo28 T C 1: 182,144,577 (GRCm39) E329G probably damaging Het
Fcgbpl1 A G 7: 27,850,127 (GRCm39) Q1191R probably benign Het
Fmnl2 T A 2: 53,013,557 (GRCm39) V972D probably damaging Het
Fmr1 A G X: 67,731,901 (GRCm39) D22G probably damaging Het
Fsip2 A G 2: 82,830,163 (GRCm39) T6886A possibly damaging Het
Gadl1 A G 9: 115,903,180 (GRCm39) *503W probably null Het
Gpc6 A T 14: 117,424,224 (GRCm39) K104I possibly damaging Het
Hecw2 T A 1: 53,866,135 (GRCm39) T1509S probably damaging Het
Lonp1 A G 17: 56,922,586 (GRCm39) L680P possibly damaging Het
Lrrc66 A T 5: 73,765,806 (GRCm39) N412K probably damaging Het
Marco C T 1: 120,422,469 (GRCm39) probably null Het
Mdga2 T C 12: 66,769,883 (GRCm39) T206A probably damaging Het
Mogat2 C A 7: 98,881,775 (GRCm39) A54S possibly damaging Het
Myh15 T A 16: 48,976,040 (GRCm39) D1369E probably benign Het
Nckap1 A T 2: 80,350,186 (GRCm39) S840T possibly damaging Het
Ncor1 C T 11: 62,216,312 (GRCm39) probably null Het
Nfrkb C A 9: 31,300,250 (GRCm39) L14I probably damaging Het
Notch1 C A 2: 26,362,917 (GRCm39) A950S probably benign Het
Notch3 T C 17: 32,362,410 (GRCm39) E1405G probably benign Het
Nsd2 C A 5: 34,000,922 (GRCm39) D146E probably damaging Het
Oc90 T C 15: 65,761,440 (GRCm39) T193A probably benign Het
Or7c70 A T 10: 78,683,431 (GRCm39) V106E probably damaging Het
Or8g50 C A 9: 39,649,011 (GRCm39) A300D probably damaging Het
Or8k40 T A 2: 86,584,843 (GRCm39) K80* probably null Het
Orc2 A T 1: 58,532,014 (GRCm39) probably null Het
Pacsin2 T C 15: 83,270,887 (GRCm39) H254R probably damaging Het
Pif1 T A 9: 65,496,844 (GRCm39) M319K probably damaging Het
Prag1 G A 8: 36,570,200 (GRCm39) R261H possibly damaging Het
Ptprq G A 10: 107,474,700 (GRCm39) T1335I probably damaging Het
Ryr3 A G 2: 112,490,399 (GRCm39) Y3812H probably damaging Het
Sgo2b G A 8: 64,380,349 (GRCm39) Q828* probably null Het
Skint6 A G 4: 113,140,823 (GRCm39) V6A probably benign Het
Slc16a13 A G 11: 70,111,340 (GRCm39) I55T probably damaging Het
Slc22a3 A T 17: 12,644,516 (GRCm39) W490R probably damaging Het
Speer4b G T 5: 27,702,881 (GRCm39) H208N probably benign Het
Tas2r124 T C 6: 132,732,378 (GRCm39) L229S probably damaging Het
Tlr4 T C 4: 66,752,124 (GRCm39) probably benign Het
Tmed1 G T 9: 21,421,369 (GRCm39) T35K probably damaging Het
Tubgcp5 C A 7: 55,445,779 (GRCm39) probably benign Het
Ugt2b34 A G 5: 87,052,247 (GRCm39) S250P possibly damaging Het
Zfp516 A G 18: 83,011,221 (GRCm39) T1085A probably damaging Het
Znfx1 T C 2: 166,879,283 (GRCm39) I1698V probably benign Het
Zswim8 G T 14: 20,763,409 (GRCm39) W385C probably damaging Het
Other mutations in Enpp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Enpp3 APN 10 24,663,670 (GRCm39) missense probably benign 0.00
IGL00778:Enpp3 APN 10 24,674,160 (GRCm39) missense probably damaging 1.00
IGL01147:Enpp3 APN 10 24,650,805 (GRCm39) missense probably damaging 1.00
IGL01642:Enpp3 APN 10 24,674,167 (GRCm39) missense probably damaging 1.00
IGL01814:Enpp3 APN 10 24,667,923 (GRCm39) missense possibly damaging 0.68
IGL02083:Enpp3 APN 10 24,652,692 (GRCm39) missense probably damaging 1.00
IGL02152:Enpp3 APN 10 24,649,900 (GRCm39) missense probably damaging 1.00
IGL02186:Enpp3 APN 10 24,667,881 (GRCm39) splice site probably benign
IGL02517:Enpp3 APN 10 24,685,746 (GRCm39) splice site probably benign
IGL02956:Enpp3 APN 10 24,650,841 (GRCm39) splice site probably benign
R0017:Enpp3 UTSW 10 24,675,051 (GRCm39) splice site probably null
R0042:Enpp3 UTSW 10 24,650,722 (GRCm39) missense probably damaging 1.00
R0110:Enpp3 UTSW 10 24,652,679 (GRCm39) missense probably damaging 1.00
R0218:Enpp3 UTSW 10 24,652,767 (GRCm39) missense possibly damaging 0.80
R0403:Enpp3 UTSW 10 24,680,334 (GRCm39) missense probably damaging 1.00
R0433:Enpp3 UTSW 10 24,696,495 (GRCm39) missense probably benign 0.00
R0450:Enpp3 UTSW 10 24,652,679 (GRCm39) missense probably damaging 1.00
R0510:Enpp3 UTSW 10 24,652,679 (GRCm39) missense probably damaging 1.00
R0826:Enpp3 UTSW 10 24,671,614 (GRCm39) missense probably damaging 1.00
R1245:Enpp3 UTSW 10 24,660,851 (GRCm39) splice site probably benign
R1261:Enpp3 UTSW 10 24,650,832 (GRCm39) missense probably damaging 0.97
R1633:Enpp3 UTSW 10 24,671,680 (GRCm39) missense probably damaging 1.00
R1903:Enpp3 UTSW 10 24,654,687 (GRCm39) missense probably damaging 1.00
R1913:Enpp3 UTSW 10 24,652,669 (GRCm39) nonsense probably null
R1966:Enpp3 UTSW 10 24,683,389 (GRCm39) missense probably damaging 0.99
R2157:Enpp3 UTSW 10 24,652,776 (GRCm39) missense probably damaging 1.00
R2179:Enpp3 UTSW 10 24,681,793 (GRCm39) missense probably benign 0.00
R2380:Enpp3 UTSW 10 24,652,770 (GRCm39) missense probably benign
R2410:Enpp3 UTSW 10 24,650,716 (GRCm39) missense probably benign 0.00
R3794:Enpp3 UTSW 10 24,707,630 (GRCm39) splice site probably null
R3896:Enpp3 UTSW 10 24,653,847 (GRCm39) missense possibly damaging 0.79
R4334:Enpp3 UTSW 10 24,669,487 (GRCm39) missense probably damaging 1.00
R4569:Enpp3 UTSW 10 24,652,780 (GRCm39) missense probably damaging 1.00
R4766:Enpp3 UTSW 10 24,649,825 (GRCm39) missense probably damaging 1.00
R4951:Enpp3 UTSW 10 24,674,175 (GRCm39) missense probably damaging 1.00
R4998:Enpp3 UTSW 10 24,683,436 (GRCm39) missense probably benign 0.01
R5045:Enpp3 UTSW 10 24,652,665 (GRCm39) missense probably damaging 1.00
R5276:Enpp3 UTSW 10 24,685,814 (GRCm39) missense probably damaging 1.00
R5331:Enpp3 UTSW 10 24,684,058 (GRCm39) missense probably damaging 1.00
R5569:Enpp3 UTSW 10 24,654,719 (GRCm39) missense probably damaging 0.98
R5975:Enpp3 UTSW 10 24,650,740 (GRCm39) missense probably benign 0.37
R6117:Enpp3 UTSW 10 24,663,750 (GRCm39) missense probably damaging 1.00
R6419:Enpp3 UTSW 10 24,684,089 (GRCm39) missense probably damaging 1.00
R6677:Enpp3 UTSW 10 24,653,855 (GRCm39) missense possibly damaging 0.88
R6735:Enpp3 UTSW 10 24,683,351 (GRCm39) missense probably damaging 1.00
R6833:Enpp3 UTSW 10 24,685,768 (GRCm39) missense probably damaging 1.00
R6999:Enpp3 UTSW 10 24,684,064 (GRCm39) missense probably damaging 1.00
R7022:Enpp3 UTSW 10 24,702,093 (GRCm39) missense probably damaging 0.99
R7173:Enpp3 UTSW 10 24,649,945 (GRCm39) missense probably damaging 1.00
R7224:Enpp3 UTSW 10 24,652,782 (GRCm39) missense possibly damaging 0.63
R7227:Enpp3 UTSW 10 24,693,742 (GRCm39) missense unknown
R7487:Enpp3 UTSW 10 24,681,821 (GRCm39) missense probably benign 0.02
R7529:Enpp3 UTSW 10 24,674,072 (GRCm39) missense probably damaging 0.97
R7583:Enpp3 UTSW 10 24,711,990 (GRCm39) start codon destroyed probably null 0.83
R7692:Enpp3 UTSW 10 24,660,739 (GRCm39) nonsense probably null
R7962:Enpp3 UTSW 10 24,660,752 (GRCm39) missense probably damaging 1.00
R7965:Enpp3 UTSW 10 24,654,717 (GRCm39) missense possibly damaging 0.90
R8153:Enpp3 UTSW 10 24,685,777 (GRCm39) missense probably damaging 1.00
R8262:Enpp3 UTSW 10 24,653,824 (GRCm39) missense probably damaging 1.00
R8305:Enpp3 UTSW 10 24,700,827 (GRCm39) critical splice acceptor site probably null
R8393:Enpp3 UTSW 10 24,702,139 (GRCm39) missense probably damaging 1.00
R8776:Enpp3 UTSW 10 24,650,733 (GRCm39) missense probably damaging 1.00
R8776-TAIL:Enpp3 UTSW 10 24,650,733 (GRCm39) missense probably damaging 1.00
R8962:Enpp3 UTSW 10 24,696,513 (GRCm39) missense probably benign 0.12
R9047:Enpp3 UTSW 10 24,674,172 (GRCm39) missense possibly damaging 0.83
R9093:Enpp3 UTSW 10 24,671,702 (GRCm39) missense probably benign 0.00
R9117:Enpp3 UTSW 10 24,702,078 (GRCm39) missense possibly damaging 0.67
R9194:Enpp3 UTSW 10 24,675,092 (GRCm39) missense possibly damaging 0.90
R9224:Enpp3 UTSW 10 24,650,716 (GRCm39) missense probably benign 0.00
R9244:Enpp3 UTSW 10 24,654,689 (GRCm39) missense probably damaging 1.00
R9387:Enpp3 UTSW 10 24,711,990 (GRCm39) start codon destroyed probably null 0.83
R9644:Enpp3 UTSW 10 24,685,801 (GRCm39) missense probably damaging 0.98
R9658:Enpp3 UTSW 10 24,649,802 (GRCm39) makesense probably null
X0026:Enpp3 UTSW 10 24,702,140 (GRCm39) missense probably damaging 1.00
Z1176:Enpp3 UTSW 10 24,663,691 (GRCm39) missense probably benign
Posted On 2013-10-07