Incidental Mutation 'R5045:Enpp3'
ID 394340
Institutional Source Beutler Lab
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 3
Synonyms CD203c
MMRRC Submission 042635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R5045 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 24649712-24712093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24652665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 764 (I764T)
Ref Sequence ENSEMBL: ENSMUSP00000020169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169]
AlphaFold Q6DYE8
Predicted Effect probably damaging
Transcript: ENSMUST00000020169
AA Change: I764T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: I764T

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,530,327 (GRCm39) probably benign Het
2210408I21Rik A G 13: 77,415,927 (GRCm39) probably null Het
4930519P11Rik A T 2: 154,454,950 (GRCm39) C136* probably null Het
4930519P11Rik G T 2: 154,454,982 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,860 (GRCm39) H1189L probably damaging Het
Arhgap24 A G 5: 103,039,743 (GRCm39) I227V possibly damaging Het
Arhgap29 C A 3: 121,796,244 (GRCm39) N445K probably benign Het
Atp13a3 T C 16: 30,158,694 (GRCm39) H811R probably benign Het
Cd2ap T C 17: 43,118,851 (GRCm39) N529S probably benign Het
Cdh20 T A 1: 110,026,080 (GRCm39) S439T probably benign Het
Ces3a G T 8: 105,777,248 (GRCm39) probably null Het
Cftr T A 6: 18,230,080 (GRCm39) N408K probably benign Het
Chil5 T C 3: 105,931,456 (GRCm39) N136S possibly damaging Het
Col20a1 A G 2: 180,648,638 (GRCm39) D933G probably damaging Het
Crh A T 3: 19,748,153 (GRCm39) L163* probably null Het
Ctps1 A C 4: 120,410,075 (GRCm39) probably null Het
Cyb5d2 A G 11: 72,686,401 (GRCm39) V63A probably damaging Het
Cyp2d11 T A 15: 82,275,272 (GRCm39) probably null Het
Dclk3 A T 9: 111,296,856 (GRCm39) E133D probably damaging Het
Dhrs9 A G 2: 69,223,339 (GRCm39) D29G probably benign Het
Disp2 G A 2: 118,622,543 (GRCm39) E1092K probably benign Het
Epm2aip1 C A 9: 111,102,427 (GRCm39) R467S possibly damaging Het
Fam20a T C 11: 109,568,711 (GRCm39) I272V probably benign Het
Fgb T C 3: 82,950,680 (GRCm39) Y358C probably damaging Het
Gm11596 A T 11: 99,683,695 (GRCm39) S142T unknown Het
Golga4 A G 9: 118,394,724 (GRCm39) T9A probably benign Het
Hmcn2 C T 2: 31,299,093 (GRCm39) P2813L probably damaging Het
Ighv1-9 C T 12: 114,547,440 (GRCm39) G34R probably damaging Het
Kalrn A C 16: 34,134,722 (GRCm39) Y353* probably null Het
Klrk1 T C 6: 129,594,466 (GRCm39) Y42C probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mbtd1 T C 11: 93,822,641 (GRCm39) Y484H probably benign Het
Mki67 T C 7: 135,309,633 (GRCm39) R273G possibly damaging Het
Myh11 A T 16: 14,057,391 (GRCm39) L308* probably null Het
Nacc2 G A 2: 25,980,150 (GRCm39) probably null Het
Nadsyn1 A G 7: 143,360,706 (GRCm39) L354P probably damaging Het
Ntrk3 T A 7: 78,110,172 (GRCm39) Q354L probably benign Het
Or10ag58 A T 2: 87,265,490 (GRCm39) I220L probably damaging Het
Or52r1c G A 7: 102,735,664 (GRCm39) G308E probably benign Het
Phactr3 T C 2: 177,973,412 (GRCm39) I470T probably damaging Het
Pkd1l3 C T 8: 110,349,787 (GRCm39) P211S unknown Het
Potefam1 T A 2: 111,023,804 (GRCm39) Q110L unknown Het
Prickle2 T C 6: 92,353,375 (GRCm39) D753G probably damaging Het
Prr12 A G 7: 44,699,318 (GRCm39) probably benign Het
Psd3 T C 8: 68,166,477 (GRCm39) E917G probably damaging Het
Rgsl1 T A 1: 153,697,268 (GRCm39) K551* probably null Het
Stag3 T C 5: 138,302,740 (GRCm39) L1033P probably damaging Het
Tcaf3 T A 6: 42,570,618 (GRCm39) Q378L possibly damaging Het
Tdpoz8 G T 3: 92,981,524 (GRCm39) D181Y probably damaging Het
Tespa1 A T 10: 130,197,904 (GRCm39) K309* probably null Het
Trim69 A G 2: 122,004,727 (GRCm39) T275A probably benign Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Ugt2a2 A T 5: 87,622,751 (GRCm39) F72L probably damaging Het
Vmn2r59 A T 7: 41,695,496 (GRCm39) D305E possibly damaging Het
Vmn2r71 A G 7: 85,273,597 (GRCm39) I804V probably benign Het
Zfy2 T C Y: 2,107,159 (GRCm39) K492E possibly damaging Het
Zkscan1 A G 5: 138,099,182 (GRCm39) H375R 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
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
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
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'- GATGGCTCAGACTCTACATTTCC -3'
(R):5'- GCAATTACTGGAGTGGAATGTG -3'

Sequencing Primer
(F):5'- AACCATTAGTTTAAGTTCTGGCC -3'
(R):5'- GGAATGTGGTGCTATTTAAATGCAC -3'
Posted On 2016-06-15