Incidental Mutation 'R7227:Enpp3'
ID 562234
Institutional Source Beutler Lab
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 3
Synonyms CD203c
MMRRC Submission 045299-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R7227 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 24649712-24712093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24693742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 195 (M195I)
Ref Sequence ENSEMBL: ENSMUSP00000151393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169] [ENSMUST00000217903] [ENSMUST00000218044] [ENSMUST00000219342] [ENSMUST00000219968] [ENSMUST00000220209]
AlphaFold Q6DYE8
Predicted Effect probably benign
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: ENSMUST00000217903
Predicted Effect unknown
Transcript: ENSMUST00000218044
AA Change: M195I
Predicted Effect probably benign
Transcript: ENSMUST00000219342
Predicted Effect probably benign
Transcript: ENSMUST00000219968
Predicted Effect probably benign
Transcript: ENSMUST00000220209
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,952,449 (GRCm39) L344H probably damaging Het
Abcb1b T A 5: 8,875,593 (GRCm39) S589T probably damaging Het
Acsm2 A C 7: 119,190,556 (GRCm39) I520L probably benign Het
Ap2a2 T C 7: 141,200,784 (GRCm39) Y544H probably damaging Het
Ascc1 T A 10: 59,843,560 (GRCm39) Y41N probably benign Het
Bend3 T A 10: 43,387,401 (GRCm39) L598Q probably damaging Het
Cfap74 T G 4: 155,545,405 (GRCm39) Y1108* probably null Het
Cxcl17 C A 7: 25,102,319 (GRCm39) R41S probably damaging Het
Cyp2c69 C A 19: 39,869,610 (GRCm39) M136I possibly damaging Het
Dnah2 A G 11: 69,312,222 (GRCm39) Y4370H probably damaging Het
Dzip3 T A 16: 48,771,932 (GRCm39) Q579L probably damaging Het
Esyt2 A G 12: 116,305,745 (GRCm39) D325G probably damaging Het
Fat1 T G 8: 45,463,646 (GRCm39) I1396S probably benign Het
Gigyf1 T A 5: 137,522,085 (GRCm39) I661K unknown Het
Gja1 T A 10: 56,263,752 (GRCm39) L37Q probably damaging Het
Hivep1 T C 13: 42,310,387 (GRCm39) S876P probably benign Het
Hk3 C T 13: 55,160,053 (GRCm39) R362H probably benign Het
Ier3ip1 T A 18: 77,027,330 (GRCm39) M53K probably benign Het
Klhl5 T C 5: 65,298,631 (GRCm39) S137P probably benign Het
Kremen2 G T 17: 23,963,573 (GRCm39) Y70* probably null Het
Lag3 C T 6: 124,885,457 (GRCm39) G308S possibly damaging Het
Mab21l4 G T 1: 93,079,736 (GRCm39) N451K probably benign Het
Map4k2 T A 19: 6,396,624 (GRCm39) L542Q probably damaging Het
Mef2d G A 3: 88,065,514 (GRCm39) probably null Het
Mkrn3 C A 7: 62,069,415 (GRCm39) R125S probably benign Het
Mpp3 T A 11: 101,895,904 (GRCm39) Y457F possibly damaging Het
Mrpl12 T A 11: 120,379,178 (GRCm39) I175N probably damaging Het
Mybbp1a G T 11: 72,338,585 (GRCm39) K728N possibly damaging Het
Nfkb1 C T 3: 135,332,420 (GRCm39) V112M probably damaging Het
Nucb2 A T 7: 116,125,311 (GRCm39) D123V probably damaging Het
Or12j2 A G 7: 139,915,534 (GRCm39) probably benign Het
Orc3 T C 4: 34,572,542 (GRCm39) T629A probably benign Het
Pdk1 T A 2: 71,714,245 (GRCm39) N218K possibly damaging Het
Plce1 A G 19: 38,715,346 (GRCm39) T1298A probably benign Het
Ppan T A 9: 20,799,496 (GRCm39) probably benign Het
Rap1gds1 C T 3: 138,663,228 (GRCm39) G373R probably damaging Het
Scn2a A C 2: 65,582,367 (GRCm39) I1572L probably damaging Het
Sec16a A T 2: 26,328,935 (GRCm39) Y1027N probably benign Het
Serpinb3a T A 1: 106,979,359 (GRCm39) T48S probably damaging Het
Slc30a8 A G 15: 52,195,032 (GRCm39) M264V probably benign Het
Slc44a3 A T 3: 121,303,879 (GRCm39) C286S possibly damaging Het
Slc8a2 T C 7: 15,878,906 (GRCm39) I464T possibly damaging Het
Smco1 T C 16: 32,092,833 (GRCm39) M168T possibly damaging Het
Spns2 A T 11: 72,349,513 (GRCm39) Y246* probably null Het
Ssbp2 T C 13: 91,823,244 (GRCm39) M213T probably benign Het
Stk40 G T 4: 126,017,559 (GRCm39) A29S probably benign Het
Thrap3 A T 4: 126,067,296 (GRCm39) F683I probably damaging Het
Tmc5 A G 7: 118,269,889 (GRCm39) T880A possibly damaging Het
Trim38 T A 13: 23,969,946 (GRCm39) N168K possibly damaging Het
Ube2d1 T A 10: 71,091,702 (GRCm39) Y134F possibly damaging Het
Vmn1r67 T A 7: 10,181,475 (GRCm39) Y246* probably null Het
Vmn2r18 T C 5: 151,496,264 (GRCm39) T485A probably damaging Het
Wrn T A 8: 33,738,974 (GRCm39) I1285F probably damaging Het
Xrcc1 C A 7: 24,246,757 (GRCm39) H8Q probably damaging Het
Zkscan4 T C 13: 21,668,413 (GRCm39) V317A 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
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
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'- TGATAAGCACCCCACTTAAGAA -3'
(R):5'- ACAGAGATAGGATCTGAGTTAAGTTTA -3'

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