Incidental Mutation 'R1633:Enpp3'
ID 172926
Institutional Source Beutler Lab
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 3
Synonyms CD203c
MMRRC Submission 039670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R1633 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 24649712-24712093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24671680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 438 (Y438C)
Ref Sequence ENSEMBL: ENSMUSP00000020169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169]
AlphaFold Q6DYE8
Predicted Effect probably damaging
Transcript: ENSMUST00000020169
AA Change: Y438C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: Y438C

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 unknown
Transcript: ENSMUST00000218343
AA Change: Y15C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218619
Meta Mutation Damage Score 0.8278 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 83.9%
Validation Efficiency 94% (68/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,681,592 (GRCm39) A185V probably benign Het
Acsl6 T C 11: 54,219,224 (GRCm39) probably benign Het
Arel1 A G 12: 84,973,057 (GRCm39) F580S probably damaging Het
Arhgef19 T C 4: 140,965,871 (GRCm39) probably benign Het
Bpifb3 T A 2: 153,764,504 (GRCm39) L132Q probably damaging Het
Cacna2d1 T A 5: 16,525,114 (GRCm39) D516E probably damaging Het
Ccar1 T C 10: 62,586,793 (GRCm39) R882G unknown Het
Cep162 T C 9: 87,085,736 (GRCm39) E1196G probably benign Het
Cpt1b T C 15: 89,303,018 (GRCm39) T649A probably damaging Het
Cttnbp2 A T 6: 18,435,166 (GRCm39) S231T probably damaging Het
Dock8 A G 19: 25,028,927 (GRCm39) T44A probably benign Het
Edrf1 T C 7: 133,253,869 (GRCm39) S536P probably damaging Het
Eif5 T A 12: 111,506,721 (GRCm39) N104K probably damaging Het
Ess2 A G 16: 17,727,831 (GRCm39) V116A probably benign Het
Galnt4 T C 10: 98,945,814 (GRCm39) V513A possibly damaging Het
Gdpd5 T C 7: 99,097,720 (GRCm39) I172T probably benign Het
Ggt7 C T 2: 155,344,608 (GRCm39) G245D probably damaging Het
Gm5884 A T 6: 128,623,028 (GRCm39) noncoding transcript Het
Herc2 G A 7: 55,879,117 (GRCm39) G4669R probably null Het
Hydin T A 8: 111,233,614 (GRCm39) D1817E probably benign Het
Igf2r A C 17: 12,945,196 (GRCm39) N359K probably benign Het
Itgb4 T C 11: 115,898,586 (GRCm39) F1722L probably damaging Het
Itih3 T A 14: 30,639,355 (GRCm39) E406V possibly damaging Het
Lamc2 A T 1: 153,017,444 (GRCm39) C514* probably null Het
Mepe G T 5: 104,485,540 (GRCm39) V227F probably benign Het
Nadk C T 4: 155,661,642 (GRCm39) T56I probably damaging Het
Nedd4 G A 9: 72,578,539 (GRCm39) V84I possibly damaging Het
Nipal3 C A 4: 135,174,659 (GRCm39) R364L probably benign Het
Nkx2-9 T C 12: 56,659,766 (GRCm39) R27G probably benign Het
Noc2l T A 4: 156,329,750 (GRCm39) S600T probably benign Het
Or1l4b T A 2: 37,036,983 (GRCm39) I253N probably damaging Het
Or1o3 T A 17: 37,574,553 (GRCm39) M1L probably benign Het
Or2c1 A C 16: 3,657,396 (GRCm39) K186N probably damaging Het
Pax6 A T 2: 105,522,063 (GRCm39) E240V probably damaging Het
Pdilt T G 7: 119,087,217 (GRCm39) T478P probably damaging Het
Phldb1 T A 9: 44,629,619 (GRCm39) I25F probably damaging Het
Rad50 C T 11: 53,583,686 (GRCm39) R365Q probably benign Het
Rdh10 A G 1: 16,198,420 (GRCm39) E186G possibly damaging Het
Rdh12 A T 12: 79,265,498 (GRCm39) E224V probably damaging Het
Reck T C 4: 43,922,964 (GRCm39) V413A possibly damaging Het
Scn8a A G 15: 100,927,696 (GRCm39) I1392V probably benign Het
Simc1 G A 13: 54,673,044 (GRCm39) G464D probably benign Het
Srf A T 17: 46,862,534 (GRCm39) V318E probably damaging Het
Stab1 T C 14: 30,872,337 (GRCm39) probably null Het
Stk3 T C 15: 34,959,206 (GRCm39) D322G probably damaging Het
Stxbp4 A G 11: 90,430,986 (GRCm39) probably benign Het
Sult2a1 A G 7: 13,535,351 (GRCm39) I234T probably benign Het
Syne1 A G 10: 5,299,388 (GRCm39) F956L probably damaging Het
Tasor2 A T 13: 3,631,771 (GRCm39) I910N possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tmem63a T A 1: 180,776,391 (GRCm39) V67E probably damaging Het
Tram2 A T 1: 21,074,146 (GRCm39) V264E probably damaging Het
Trpv5 A T 6: 41,652,854 (GRCm39) C106* probably null Het
Tspyl5 T A 15: 33,686,791 (GRCm39) K385* probably null Het
Vezt T A 10: 93,820,138 (GRCm39) Q409L probably damaging Het
Vmn2r79 T C 7: 86,687,042 (GRCm39) C808R possibly damaging Het
Wdfy3 A C 5: 102,129,414 (GRCm39) V4G probably damaging Het
Wdr95 A T 5: 149,516,637 (GRCm39) I493F probably damaging Het
Zfhx4 A T 3: 5,465,473 (GRCm39) N1877I probably damaging Het
Zfp180 A G 7: 23,804,226 (GRCm39) D215G probably benign Het
Zfp442 A T 2: 150,250,260 (GRCm39) Y490* probably null Het
Zfp804b A G 5: 7,229,513 (GRCm39) probably benign 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
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'- TGACACTCGTGCTCCCCAAAAG -3'
(R):5'- gcccGAGTCCACTTACTTCTAACAC -3'

Sequencing Primer
(F):5'- ggttctcccctgcctctg -3'
(R):5'- TTTGATGTGCCGTGGGAGAA -3'
Posted On 2014-04-24