Incidental Mutation 'IGL02152:Enpp3'
ID 282070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 3
Synonyms CD203c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL02152
Quality Score
Status
Chromosome 10
Chromosomal Location 24649712-24712093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24649900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 842 (E842G)
Ref Sequence ENSEMBL: ENSMUSP00000020169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169]
AlphaFold Q6DYE8
Predicted Effect probably damaging
Transcript: ENSMUST00000020169
AA Change: E842G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: E842G

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
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,695,983 (GRCm39) T140A probably benign Het
4933430I17Rik T C 4: 62,460,991 (GRCm39) Y289H possibly damaging Het
Adamts17 T A 7: 66,774,748 (GRCm39) S956T probably benign Het
Adamts6 A T 13: 104,450,168 (GRCm39) S290C probably null Het
Apaf1 A T 10: 90,897,681 (GRCm39) H267Q probably benign Het
Aplp2 G A 9: 31,122,947 (GRCm39) P26L unknown Het
Arid1b C T 17: 5,364,243 (GRCm39) S1019F probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Ass1 T C 2: 31,382,336 (GRCm39) I169T probably damaging Het
Ccser1 A G 6: 61,288,692 (GRCm39) D285G possibly damaging Het
Cenpf A G 1: 189,381,209 (GRCm39) V2737A probably benign Het
Chrm5 A G 2: 112,310,913 (GRCm39) Y68H probably damaging Het
Cops4 A G 5: 100,681,456 (GRCm39) T164A probably benign Het
Cox4i1 A G 8: 121,399,604 (GRCm39) S72G probably benign Het
Cpox A G 16: 58,494,787 (GRCm39) T275A possibly damaging Het
Cyb5a T C 18: 84,891,281 (GRCm39) I68T probably benign Het
Efna5 T C 17: 62,958,055 (GRCm39) D67G probably benign Het
Fam210b A G 2: 172,193,423 (GRCm39) K79E probably benign Het
Gm4799 T C 10: 82,790,589 (GRCm39) noncoding transcript Het
Gpr146 A T 5: 139,378,467 (GRCm39) R90W probably damaging Het
H2ac10 A G 13: 23,718,451 (GRCm39) H124R probably benign Het
Hal A G 10: 93,339,404 (GRCm39) I498V possibly damaging Het
Hnrnpm C T 17: 33,877,386 (GRCm39) G365R probably damaging Het
Jakmip3 A G 7: 138,627,217 (GRCm39) D407G probably damaging Het
Kank1 A G 19: 25,405,536 (GRCm39) I1185V possibly damaging Het
Kcnj16 A T 11: 110,916,036 (GRCm39) M233L probably benign Het
Klhl5 A T 5: 65,306,143 (GRCm39) Q370L probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Las1l A G X: 94,996,908 (GRCm39) V130A probably damaging Het
Liat1 A G 11: 75,894,051 (GRCm39) I143V probably benign Het
Lrp2bp A T 8: 46,476,081 (GRCm39) Y274F probably damaging Het
Morc2b T A 17: 33,356,917 (GRCm39) K285M probably damaging Het
Mpp3 A T 11: 101,916,216 (GRCm39) Y45* probably null Het
Muc4 T A 16: 32,598,023 (GRCm39) probably benign Het
Muc5ac T C 7: 141,353,914 (GRCm39) C837R possibly damaging Het
Nr2f6 T A 8: 71,828,810 (GRCm39) I155F probably damaging Het
Nsg1 A G 5: 38,302,145 (GRCm39) F50L probably benign Het
Or14a258 T A 7: 86,035,251 (GRCm39) M206L probably benign Het
Ostf1 C A 19: 18,567,822 (GRCm39) G101C probably damaging Het
Pam C T 1: 97,768,474 (GRCm39) R552Q probably damaging Het
Pkd1l3 A G 8: 110,395,924 (GRCm39) N2108S probably damaging Het
Prkdc A T 16: 15,487,149 (GRCm39) H484L probably benign Het
Pwwp3a A G 10: 80,075,812 (GRCm39) D466G probably damaging Het
Rfx5 G A 3: 94,864,493 (GRCm39) R213Q probably damaging Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Sall2 A G 14: 52,552,971 (GRCm39) S73P probably damaging Het
Sec22c G A 9: 121,513,845 (GRCm39) A264V probably benign Het
Sis A C 3: 72,796,319 (GRCm39) probably benign Het
Spam1 T A 6: 24,800,802 (GRCm39) probably benign Het
Spmip2 T C 3: 79,252,839 (GRCm39) I18T possibly damaging Het
St13 T A 15: 81,250,583 (GRCm39) I318F probably damaging Het
Syne1 T C 10: 5,374,382 (GRCm39) I142V probably damaging Het
Tasor2 C T 13: 3,635,371 (GRCm39) E479K probably benign Het
Trpm6 A T 19: 18,809,903 (GRCm39) T1100S possibly damaging Het
Ttll6 G A 11: 96,026,366 (GRCm39) W90* probably null Het
Txndc12 T A 4: 108,691,989 (GRCm39) C9* probably null Het
Ubr7 C T 12: 102,734,535 (GRCm39) Q270* probably null Het
Vps33b A G 7: 79,934,817 (GRCm39) S302G probably benign Het
Xylt1 T A 7: 117,233,997 (GRCm39) V508E probably damaging Het
Zbtb26 A T 2: 37,326,703 (GRCm39) L111Q possibly damaging Het
Zfp410 T C 12: 84,379,702 (GRCm39) probably benign Het
Zscan18 A T 7: 12,509,223 (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
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
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
Posted On 2015-04-16