Incidental Mutation 'R0017:Enpp3'
ID 19359
Institutional Source Beutler Lab
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 3
Synonyms CD203c
MMRRC Submission 038312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R0017 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 24649712-24712093 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 24675051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169]
AlphaFold Q6DYE8
Predicted Effect probably null
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: ENSMUST00000218619
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.0%
  • 20x: 89.2%
Validation Efficiency 96% (76/79)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,226,938 (GRCm39) probably benign Het
Abca13 T A 11: 9,242,775 (GRCm39) I1546N probably damaging Het
Actrt3 A T 3: 30,652,422 (GRCm39) M224K probably benign Het
Adgrv1 T C 13: 81,727,065 (GRCm39) N429S probably benign Het
Appbp2 A C 11: 85,105,129 (GRCm39) C146G possibly damaging Het
Cabp2 A C 19: 4,136,242 (GRCm39) D83A possibly damaging Het
Ccl1 A G 11: 82,068,843 (GRCm39) probably null Het
Cdca8 T C 4: 124,814,168 (GRCm39) T208A probably benign Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Dcdc5 G A 2: 106,187,541 (GRCm39) noncoding transcript Het
Efr3b C A 12: 4,043,003 (GRCm39) C89F probably damaging Het
Ep400 A T 5: 110,821,395 (GRCm39) V2467E probably damaging Het
Ermap T C 4: 119,037,145 (GRCm39) probably benign Het
Fig4 A G 10: 41,149,003 (GRCm39) Y150H possibly damaging Het
Fsip2 G A 2: 82,822,416 (GRCm39) V6050M probably damaging Het
Gnb1l T C 16: 18,359,810 (GRCm39) W72R probably damaging Het
Gpld1 A G 13: 25,174,101 (GRCm39) D842G probably damaging Het
Hmgcr A G 13: 96,788,597 (GRCm39) probably benign Het
Hrc A G 7: 44,985,794 (GRCm39) H315R possibly damaging Het
Ifit2 A T 19: 34,550,973 (GRCm39) N171I probably damaging Het
Ipo11 T A 13: 107,023,238 (GRCm39) I416L probably benign Het
Kcnab1 G A 3: 65,264,527 (GRCm39) V259M probably damaging Het
Kcng4 T C 8: 120,360,259 (GRCm39) Y39C probably damaging Het
Kif5c A G 2: 49,622,725 (GRCm39) T526A probably benign Het
Kntc1 A G 5: 123,919,044 (GRCm39) Y805C probably damaging Het
Mal A G 2: 127,482,227 (GRCm39) S59P probably damaging Het
Myh15 A G 16: 48,983,423 (GRCm39) N1513D probably damaging Het
Ncoa2 A G 1: 13,244,976 (GRCm39) L574P probably damaging Het
Nmd3 A G 3: 69,643,425 (GRCm39) probably null Het
Nucb2 A G 7: 116,132,386 (GRCm39) D331G probably benign Het
Nwd1 T C 8: 73,436,053 (GRCm39) probably benign Het
Nynrin T C 14: 56,109,852 (GRCm39) F1653S probably damaging Het
Or4a80 A C 2: 89,582,365 (GRCm39) I269S possibly damaging Het
Or7c19 T A 8: 85,957,706 (GRCm39) I194N probably benign Het
Or8b12b T G 9: 37,684,274 (GRCm39) F106L probably benign Het
Pfdn6 T C 17: 34,158,538 (GRCm39) R79G probably damaging Het
Pkd1 G T 17: 24,797,513 (GRCm39) probably null Het
Pramel4 T G 4: 143,794,914 (GRCm39) C434G probably benign Het
Ptpn13 T C 5: 103,634,638 (GRCm39) probably null Het
Ptpro T C 6: 137,393,825 (GRCm39) V831A probably benign Het
Rabl6 A T 2: 25,492,579 (GRCm39) probably benign Het
Reg3b T A 6: 78,349,844 (GRCm39) M128K possibly damaging Het
Rif1 A G 2: 52,006,686 (GRCm39) T2207A probably benign Het
Rpa1 A C 11: 75,205,687 (GRCm39) N223K probably null Het
Rras2 T C 7: 113,647,490 (GRCm39) probably benign Het
Ryr1 T A 7: 28,746,967 (GRCm39) E3760V probably damaging Het
Scyl3 T A 1: 163,767,538 (GRCm39) I204N possibly damaging Het
Serpinb9h A C 13: 33,588,494 (GRCm39) I360L probably damaging Het
Slc16a12 A G 19: 34,650,098 (GRCm39) probably benign Het
Slc22a1 A G 17: 12,878,646 (GRCm39) F356L probably damaging Het
Slc22a29 A G 19: 8,195,630 (GRCm39) probably benign Het
Slc45a1 C A 4: 150,714,023 (GRCm39) D741Y possibly damaging Het
Slco1a5 A T 6: 142,182,061 (GRCm39) probably benign Het
Smg5 G T 3: 88,258,412 (GRCm39) R461L probably damaging Het
Snrk T C 9: 121,995,306 (GRCm39) S362P probably damaging Het
Spata31d1b A G 13: 59,863,883 (GRCm39) S344G probably benign Het
Sync G A 4: 129,187,537 (GRCm39) V190M probably damaging Het
Taf5l T C 8: 124,730,383 (GRCm39) Y67C probably damaging Het
Tbkbp1 A G 11: 97,037,115 (GRCm39) probably benign Het
Tshr A T 12: 91,504,660 (GRCm39) I533F possibly damaging Het
Tsn T C 1: 118,228,589 (GRCm39) D211G probably damaging Het
Ttn G A 2: 76,621,988 (GRCm39) T15518I probably benign Het
Unc13c T C 9: 73,600,583 (GRCm39) D1387G probably benign Het
Vapb A G 2: 173,613,397 (GRCm39) T99A probably benign Het
Vmn2r127 A G 17: 19,373,879 (GRCm39) noncoding transcript Het
Zfp280d A T 9: 72,246,292 (GRCm39) probably null 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
IGL01343:Enpp3 APN 10 24,681,820 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACTGCTGAAAGGCAGCCTGAAG -3'
(R):5'- CCCAGAAAGGGTGAGATGCTTACATAC -3'

Sequencing Primer
(F):5'- GGACCACATTTTTGTGAGCTAC -3'
(R):5'- ttgtttgtttgtttttgtttttttgC -3'
Posted On 2013-04-11