Incidental Mutation 'R6419:Enpp3'
ID 518013
Institutional Source Beutler Lab
Gene Symbol Enpp3
Ensembl Gene ENSMUSG00000019989
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 3
Synonyms CD203c
MMRRC Submission 044561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R6419 (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 T at 24684089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 52 (Y52N)
Ref Sequence ENSEMBL: ENSMUSP00000151371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020169] [ENSMUST00000217903] [ENSMUST00000219342]
AlphaFold Q6DYE8
Predicted Effect probably damaging
Transcript: ENSMUST00000020169
AA Change: Y217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: Y217N

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 noncoding transcript
Transcript: ENSMUST00000218619
Predicted Effect probably damaging
Transcript: ENSMUST00000219342
AA Change: Y52N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 96% (67/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T C 4: 42,812,473 (GRCm39) probably benign Het
Abcc2 T A 19: 43,825,947 (GRCm39) probably null Het
Adamts12 C T 15: 11,215,759 (GRCm39) T260M possibly damaging Het
Adamts20 C T 15: 94,231,556 (GRCm39) V878I possibly damaging Het
Adgrl4 A G 3: 151,144,953 (GRCm39) E34G probably damaging Het
Asah1 A T 8: 41,796,803 (GRCm39) I293N probably damaging Het
Atosa G A 9: 74,916,619 (GRCm39) S413N probably benign Het
B3galt2 A T 1: 143,522,839 (GRCm39) E325V possibly damaging Het
Baz1b T A 5: 135,271,348 (GRCm39) H1310Q probably benign Het
Ccdc125 T A 13: 100,826,834 (GRCm39) N204K probably damaging Het
Cd36 C T 5: 18,002,150 (GRCm39) D284N probably benign Het
Cdh12 T C 15: 21,520,483 (GRCm39) L316S probably damaging Het
Cenpv T C 11: 62,416,008 (GRCm39) K247R probably benign Het
Cldn18 T C 9: 99,574,801 (GRCm39) H257R possibly damaging Het
Cnot8 T A 11: 58,004,891 (GRCm39) Y197N probably damaging Het
Cog3 A T 14: 75,962,178 (GRCm39) C554* probably null Het
Col4a4 A G 1: 82,444,207 (GRCm39) probably null Het
Cops5 G A 1: 10,103,532 (GRCm39) T158I probably damaging Het
Dhh A G 15: 98,792,282 (GRCm39) F242S probably damaging Het
Dot1l T C 10: 80,627,315 (GRCm39) V1512A possibly damaging Het
Dstn T G 2: 143,781,907 (GRCm39) I116S possibly damaging Het
Egfem1 G A 3: 29,711,398 (GRCm39) D326N probably damaging Het
Gabra2 A G 5: 71,119,426 (GRCm39) S359P probably benign Het
Gbp7 G A 3: 142,252,214 (GRCm39) G599E probably benign Het
Gcat T G 15: 78,920,264 (GRCm39) I198S probably damaging Het
Gm8439 A G 4: 120,466,755 (GRCm39) K82R unknown Het
Grin2b A G 6: 135,717,965 (GRCm39) F709S probably damaging Het
Grm3 T C 5: 9,620,201 (GRCm39) N348D probably damaging Het
Hdgfl1 G A 13: 26,954,075 (GRCm39) probably benign Het
Hmgxb3 G T 18: 61,285,296 (GRCm39) D564E possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Impg1 A G 9: 80,287,300 (GRCm39) V305A probably benign Het
Ints7 T A 1: 191,334,414 (GRCm39) S313T possibly damaging Het
Knl1 T A 2: 118,899,484 (GRCm39) I395K probably benign Het
Lactb2 A T 1: 13,708,459 (GRCm39) Y196* probably null Het
Lad1 T C 1: 135,759,630 (GRCm39) S509P possibly damaging Het
Ltf T C 9: 110,860,090 (GRCm39) F504L possibly damaging Het
Med4 A T 14: 73,751,363 (GRCm39) D104V probably damaging Het
Mrpl58 A T 11: 115,301,073 (GRCm39) N128Y probably damaging Het
Ndufs2 T C 1: 171,068,668 (GRCm39) T54A probably benign Het
Notch2 G T 3: 98,007,705 (GRCm39) probably null Het
Ntng1 A T 3: 109,690,169 (GRCm39) N424K possibly damaging Het
Ntrk2 G A 13: 59,009,113 (GRCm39) W301* probably null Het
Or5b116 T A 19: 13,423,131 (GRCm39) S252T probably benign Het
Otud6b A G 4: 14,822,766 (GRCm39) S113P possibly damaging Het
Pcdhb20 A G 18: 37,638,608 (GRCm39) N378S probably damaging Het
Polr3b T C 10: 84,473,975 (GRCm39) S185P possibly damaging Het
Ptprn G A 1: 75,240,681 (GRCm39) R31C probably benign Het
Rgsl1 C T 1: 153,698,117 (GRCm39) V478M probably damaging Het
Sema6b A T 17: 56,439,784 (GRCm39) L19* probably null Het
Slfn8 A G 11: 82,894,881 (GRCm39) probably null Het
Spen A T 4: 141,203,621 (GRCm39) S1669T unknown Het
Syne2 T C 12: 76,143,740 (GRCm39) F1522L probably damaging Het
Tarbp1 C T 8: 127,185,783 (GRCm39) A470T possibly damaging Het
Tent4a A C 13: 69,658,785 (GRCm39) M350R possibly damaging Het
Tiam1 C A 16: 89,694,912 (GRCm39) E182* probably null Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Trip12 C T 1: 84,771,591 (GRCm39) A186T probably damaging Het
Ufc1 C T 1: 171,116,529 (GRCm39) A147T probably damaging Het
Vmn1r199 A G 13: 22,567,777 (GRCm39) K314R possibly damaging Het
Vmn2r13 A T 5: 109,323,085 (GRCm39) I68K possibly damaging Het
Vmn2r77 A T 7: 86,460,767 (GRCm39) I698F probably damaging Het
Vmn2r86 T C 10: 130,282,795 (GRCm39) K607R probably damaging Het
Vwa3b T C 1: 37,196,457 (GRCm39) V28A probably benign Het
Wdr19 A G 5: 65,373,236 (GRCm39) N166S possibly damaging Het
Wfdc17 G A 11: 83,595,634 (GRCm39) G33R probably damaging Het
Zfp330 T G 8: 83,491,545 (GRCm39) K209N probably benign Het
Zfp493 A G 13: 67,934,526 (GRCm39) T160A probably benign Het
Zfp974 A T 7: 27,610,940 (GRCm39) C262S possibly 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
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'- AAACTACATGAATGGCGAGAAACTC -3'
(R):5'- AGGGTAAGAAGCTGCGTCTTC -3'

Sequencing Primer
(F):5'- CGAGCCATTGTTCATGAAAGC -3'
(R):5'- GTAAGAAGCTGCGTCTTCCTGAC -3'
Posted On 2018-05-24