Incidental Mutation 'R3967:Enpp7'
ID 312407
Institutional Source Beutler Lab
Gene Symbol Enpp7
Ensembl Gene ENSMUSG00000046697
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 7
Synonyms Alk-SMase, LOC238011
MMRRC Submission 040838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3967 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 118879014-118884047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118881827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 324 (I324T)
Ref Sequence ENSEMBL: ENSMUSP00000090027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092373] [ENSMUST00000106273]
AlphaFold Q3TIW9
Predicted Effect probably damaging
Transcript: ENSMUST00000092373
AA Change: I324T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090027
Gene: ENSMUSG00000046697
AA Change: I324T

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 possibly damaging
Transcript: ENSMUST00000106273
AA Change: I324T

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101880
Gene: ENSMUSG00000046697
AA Change: I324T

signal peptide 1 21 N/A INTRINSIC
Pfam:Phosphodiest 30 353 3e-77 PFAM
Pfam:Metalloenzyme 41 257 5.2e-10 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 100% (44/44)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik G T 8: 122,266,719 (GRCm39) Q56K possibly damaging Het
Adam18 C A 8: 25,119,726 (GRCm39) V518L probably benign Het
Akap6 A T 12: 53,188,236 (GRCm39) K1883N probably damaging Het
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Armcx6 G T X: 133,650,505 (GRCm39) H109N possibly damaging Het
Ctnnd2 C A 15: 30,647,075 (GRCm39) A257E possibly damaging Het
Depdc5 T A 5: 33,101,459 (GRCm39) C322* probably null Het
Gm14401 T C 2: 176,778,789 (GRCm39) Y292H possibly damaging Het
Gm6871 A T 7: 41,196,148 (GRCm39) H196Q probably damaging Het
Gm9964 T C 11: 79,187,202 (GRCm39) T82A unknown Het
Gria2 T A 3: 80,618,084 (GRCm39) Q317L possibly damaging Het
Grtp1 G A 8: 13,239,705 (GRCm39) T134I probably benign Het
Itpkb A T 1: 180,155,363 (GRCm39) probably benign Het
Kbtbd12 A G 6: 88,595,488 (GRCm39) V114A probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Ly75 T C 2: 60,158,217 (GRCm39) I1023V possibly damaging Het
Myof C T 19: 37,889,711 (GRCm39) V1287M probably damaging Het
Myof T G 19: 38,011,058 (GRCm39) D60A possibly damaging Het
Narf A T 11: 121,129,247 (GRCm39) E10D possibly damaging Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,060 (GRCm39) M155V probably benign Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pabpc5 A G X: 118,838,321 (GRCm39) E212G probably benign Het
Pidd1 A G 7: 141,018,995 (GRCm39) F829L possibly damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Pkn2 A G 3: 142,515,438 (GRCm39) C658R probably damaging Het
Psd C T 19: 46,312,845 (GRCm39) R175H probably benign Het
Rab39 G A 9: 53,597,932 (GRCm39) A111V possibly damaging Het
Rb1cc1 T A 1: 6,318,494 (GRCm39) probably benign Het
Rnf39 C A 17: 37,254,035 (GRCm39) T19K probably damaging Het
Slc16a3 C T 11: 120,846,251 (GRCm39) T60M possibly damaging Het
Slc26a4 G T 12: 31,578,686 (GRCm39) H656N probably damaging Het
Slc27a1 A G 8: 72,032,431 (GRCm39) E184G probably damaging Het
Smc6 T C 12: 11,348,327 (GRCm39) V742A probably benign Het
Thoc1 T A 18: 9,968,787 (GRCm39) V186D probably damaging Het
Uhrf2 T C 19: 30,057,315 (GRCm39) V491A probably damaging Het
Uri1 A G 7: 37,664,927 (GRCm39) V253A possibly damaging Het
Vmn2r83 T A 10: 79,327,154 (GRCm39) N587K probably benign Het
Vmn2r88 A T 14: 51,650,647 (GRCm39) Y120F probably benign Het
Wwox G A 8: 115,215,673 (GRCm39) A149T probably damaging Het
Zfp536 T C 7: 37,173,255 (GRCm39) *282W probably null 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
R2970:Enpp7 UTSW 11 118,881,472 (GRCm39) missense probably damaging 1.00
R3713:Enpp7 UTSW 11 118,881,344 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2015-04-29