Incidental Mutation 'R7173:Enpp3'
ID 558434
Institutional Source Beutler Lab
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 3
Synonyms CD203c
MMRRC Submission 045265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R7173 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 24649712-24712093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24649945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 827 (V827G)
Ref Sequence ENSEMBL: ENSMUSP00000020169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169]
AlphaFold Q6DYE8
Predicted Effect probably damaging
Transcript: ENSMUST00000020169
AA Change: V827G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: V827G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,833,848 (GRCm39) V403I possibly damaging Het
Actn1 G A 12: 80,224,033 (GRCm39) R475C possibly damaging Het
Adam11 T C 11: 102,662,757 (GRCm39) L191P possibly damaging Het
Adam21 G T 12: 81,606,008 (GRCm39) Q585K probably benign Het
Akap3 T C 6: 126,841,729 (GRCm39) V116A probably benign Het
Alpk1 A T 3: 127,478,024 (GRCm39) Y74* probably null Het
Alx4 G T 2: 93,473,202 (GRCm39) G67C possibly damaging Het
Ankrd17 A T 5: 90,407,976 (GRCm39) C1414S possibly damaging Het
Ankrd44 T C 1: 54,805,550 (GRCm39) D170G probably damaging Het
Arpc2 T A 1: 74,303,531 (GRCm39) M266K probably damaging Het
Atp12a A T 14: 56,621,837 (GRCm39) N794I probably damaging Het
Cabin1 A G 10: 75,582,396 (GRCm39) L340P probably benign Het
Ccer1 A T 10: 97,529,217 (GRCm39) probably benign Het
Cfap73 A T 5: 120,772,279 (GRCm39) Y8N probably damaging Het
Cfhr4 C A 1: 139,659,415 (GRCm39) E705* probably null Het
Cln3 T C 7: 126,178,589 (GRCm39) T173A probably damaging Het
Cxcl3 A T 5: 90,934,008 (GRCm39) probably benign Het
Cyp2c66 G C 19: 39,159,401 (GRCm39) C284S probably benign Het
Dnajc22 T C 15: 98,999,187 (GRCm39) V124A probably benign Het
Dync1h1 C G 12: 110,568,173 (GRCm39) D45E probably benign Het
Elmod3 A T 6: 72,554,235 (GRCm39) probably null Het
Esyt2 T C 12: 116,327,154 (GRCm39) I574T probably benign Het
Ext2 A T 2: 93,643,957 (GRCm39) I108N probably damaging Het
Fam186a T C 15: 99,843,531 (GRCm39) I904M unknown Het
Fmnl2 T C 2: 53,004,202 (GRCm39) I638T unknown Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Het
Fras1 G T 5: 96,925,937 (GRCm39) A3714S probably damaging Het
Fsd1 C A 17: 56,303,696 (GRCm39) R479S possibly damaging Het
Gaa C T 11: 119,169,817 (GRCm39) L624F probably damaging Het
Galnt2 G A 8: 125,032,292 (GRCm39) V86I probably benign Het
Gdap1l1 T G 2: 163,280,608 (GRCm39) V48G probably damaging Het
Gm10549 A G 18: 33,597,462 (GRCm39) T83A unknown Het
Gm11437 T G 11: 84,055,374 (GRCm39) T81P probably benign Het
Gm16253 T C 3: 96,487,979 (GRCm39) probably null Het
Gprc6a A T 10: 51,504,595 (GRCm39) M83K probably benign Het
Grik5 T C 7: 24,767,587 (GRCm39) D31G probably damaging Het
Hcrtr2 A G 9: 76,167,013 (GRCm39) L108P probably damaging Het
Herc2 T A 7: 55,853,575 (GRCm39) L3689Q probably damaging Het
Igf2bp1 T C 11: 95,859,290 (GRCm39) M407V probably benign Het
Irgq A T 7: 24,233,185 (GRCm39) E342V probably damaging Het
Itih2 A T 2: 10,109,974 (GRCm39) I593N probably damaging Het
Ivd G T 2: 118,701,870 (GRCm39) G101C probably damaging Het
Jakmip1 G A 5: 37,248,708 (GRCm39) G123S probably damaging Het
Kif14 T A 1: 136,406,908 (GRCm39) I580N probably damaging Het
Kmt2e A T 5: 23,669,855 (GRCm39) Y114F probably damaging Het
Ly6g5b C A 17: 35,333,680 (GRCm39) C99F probably damaging Het
Map3k20 C T 2: 72,271,758 (GRCm39) P629S probably benign Het
Mpl A G 4: 118,305,741 (GRCm39) probably null Het
Muc4 T C 16: 32,582,862 (GRCm39) F476L probably damaging Het
Mup18 T C 4: 61,590,199 (GRCm39) T110A probably benign Het
Nlrp9a A G 7: 26,257,603 (GRCm39) D407G probably benign Het
Nmur1 G A 1: 86,314,190 (GRCm39) R359C probably benign Het
Or5ac24 T C 16: 59,165,510 (GRCm39) T185A probably benign Het
Or5p64 C T 7: 107,854,955 (GRCm39) C130Y possibly damaging Het
Panx3 A T 9: 37,572,596 (GRCm39) M318K probably damaging Het
Pcnx1 T C 12: 81,999,777 (GRCm39) probably null Het
Pcsk5 T C 19: 17,455,241 (GRCm39) Y1063C possibly damaging Het
Psme3ip1 A T 8: 95,315,486 (GRCm39) F15L probably damaging Het
Rere G A 4: 150,553,195 (GRCm39) R129H probably damaging Het
Rpgrip1 A G 14: 52,349,633 (GRCm39) Y7C possibly damaging Het
Serpina6 T C 12: 103,613,253 (GRCm39) N349S possibly damaging Het
Slc10a1 T G 12: 81,002,750 (GRCm39) E296A probably damaging Het
Slc2a9 A T 5: 38,610,214 (GRCm39) probably null Het
Sptan1 T A 2: 29,873,221 (GRCm39) M138K probably benign Het
Tbl3 T C 17: 24,924,233 (GRCm39) T175A probably benign Het
Tbrg4 T C 11: 6,570,810 (GRCm39) T221A possibly damaging Het
Tenm2 T C 11: 35,932,378 (GRCm39) T1739A probably damaging Het
Tmed5 T C 5: 108,280,187 (GRCm39) D35G probably benign Het
Tnfsf15 A T 4: 63,647,889 (GRCm39) S250R probably damaging Het
Tnpo2 G T 8: 85,781,707 (GRCm39) V830F probably benign Het
Ttbk2 G T 2: 120,570,592 (GRCm39) S1187Y probably damaging Het
Ttn G A 2: 76,625,029 (GRCm39) T15183M possibly damaging Het
Tubgcp3 T C 8: 12,689,259 (GRCm39) probably null Het
Vmn1r38 T C 6: 66,753,278 (GRCm39) I279M possibly damaging Het
Vmn1r49 A T 6: 90,049,250 (GRCm39) Y251N possibly damaging Het
Vmn1r66 C T 7: 10,008,482 (GRCm39) V184I probably benign Het
Vmn2r26 T A 6: 124,038,255 (GRCm39) M610K probably benign Het
Xrn2 C T 2: 146,884,013 (GRCm39) P591S 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
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
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'- GCGTTTCTGCCAAATACTGAC -3'
(R):5'- CAGCACAGTGGGTAGGAGTTTATAG -3'

Sequencing Primer
(F):5'- AATGTCACCAGCTCTATAGGACTCTG -3'
(R):5'- TACACCACGGGGAAAATG -3'
Posted On 2019-06-26