Incidental Mutation 'R2970:Enpp7'
ID 255219
Institutional Source Beutler Lab
Gene Symbol Enpp7
Ensembl Gene ENSMUSG00000046697
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 7
Synonyms Alk-SMase, LOC238011
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2970 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 118879014-118884047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118881472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 206 (S206P)
Ref Sequence ENSEMBL: ENSMUSP00000101880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092373] [ENSMUST00000106273]
AlphaFold Q3TIW9
Predicted Effect probably damaging
Transcript: ENSMUST00000092373
AA Change: S206P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090027
Gene: ENSMUSG00000046697
AA Change: S206P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Phosphodiest 30 353 2.5e-76 PFAM
Pfam:Metalloenzyme 43 272 8.7e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106273
AA Change: S206P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101880
Gene: ENSMUSG00000046697
AA Change: S206P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Phosphodiest 30 353 3e-77 PFAM
Pfam:Metalloenzyme 41 257 5.2e-10 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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 is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit intestinal epithelium hypertrophy, decreased crypt and villi width, and impaired sphingomyelin digestion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A G 1: 38,574,103 (GRCm39) S253P probably damaging Het
Arhgap12 A T 18: 6,111,732 (GRCm39) S211T probably damaging Het
Ccdc186 T G 19: 56,795,430 (GRCm39) N416H probably damaging Het
Eipr1 A T 12: 28,897,593 (GRCm39) I152F probably benign Het
Ighv8-12 C T 12: 115,611,570 (GRCm39) R118Q probably benign Het
Mrgprb5 T A 7: 47,818,317 (GRCm39) R139S probably damaging Het
Nipbl C A 15: 8,340,723 (GRCm39) C1999F probably damaging Het
Or10d4c T C 9: 39,558,195 (GRCm39) Y58H probably damaging Het
Or51b6 T C 7: 103,556,519 (GRCm39) V291A probably benign Het
Or5m11b T C 2: 85,806,454 (GRCm39) I289T possibly damaging Het
Pcnx2 A C 8: 126,528,275 (GRCm39) L1315R probably damaging Het
Ric1 A G 19: 29,555,118 (GRCm39) T411A probably benign Het
Rnf133 T C 6: 23,649,405 (GRCm39) I175V probably benign Het
Serpina3n C T 12: 104,375,333 (GRCm39) T135M probably benign Het
Slc10a5 C A 3: 10,400,127 (GRCm39) G178W probably damaging Het
Spam1 A T 6: 24,796,724 (GRCm39) N225I probably damaging Het
St7 A T 6: 17,844,908 (GRCm39) E132V probably damaging Het
Styxl2 C T 1: 165,926,798 (GRCm39) S938N probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Trbv13-1 A G 6: 41,093,310 (GRCm39) K81R possibly damaging Het
Trp53bp2 T C 1: 182,259,163 (GRCm39) L72P probably damaging Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Vmn1r71 T C 7: 10,482,641 (GRCm39) T16A possibly damaging Het
Other mutations in Enpp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Enpp7 APN 11 118,881,371 (GRCm39) missense probably damaging 1.00
IGL02488:Enpp7 APN 11 118,879,640 (GRCm39) missense probably damaging 1.00
IGL02672:Enpp7 APN 11 118,883,166 (GRCm39) critical splice donor site probably null
R0465:Enpp7 UTSW 11 118,879,607 (GRCm39) missense probably damaging 1.00
R1718:Enpp7 UTSW 11 118,881,809 (GRCm39) missense probably damaging 1.00
R2208:Enpp7 UTSW 11 118,879,588 (GRCm39) splice site probably benign
R3713:Enpp7 UTSW 11 118,881,344 (GRCm39) missense probably damaging 1.00
R3967:Enpp7 UTSW 11 118,881,827 (GRCm39) missense probably damaging 0.99
R5222:Enpp7 UTSW 11 118,881,788 (GRCm39) missense probably benign 0.03
R5454:Enpp7 UTSW 11 118,879,634 (GRCm39) missense probably benign 0.03
R5577:Enpp7 UTSW 11 118,882,953 (GRCm39) missense probably benign 0.01
R7361:Enpp7 UTSW 11 118,882,985 (GRCm39) missense probably benign 0.02
R8855:Enpp7 UTSW 11 118,879,191 (GRCm39) missense possibly damaging 0.50
R9048:Enpp7 UTSW 11 118,881,455 (GRCm39) missense probably damaging 1.00
R9731:Enpp7 UTSW 11 118,879,151 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGAACGTCACCTACCAAG -3'
(R):5'- AACAGCTCAAACTGGATGTCC -3'

Sequencing Primer
(F):5'- CTACCAAGGAGAGGCCGTAAC -3'
(R):5'- CTCAAACTGGATGTCCTGGAAG -3'
Posted On 2014-12-29