Incidental Mutation 'IGL02488:Enpp7'
ID 295517
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02488
Quality Score
Status
Chromosome 11
Chromosomal Location 118879014-118884047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 118879640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 98 (T98N)
Ref Sequence ENSEMBL: ENSMUSP00000101880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092373] [ENSMUST00000106273]
AlphaFold Q3TIW9
Predicted Effect possibly damaging
Transcript: ENSMUST00000092373
AA Change: T98N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090027
Gene: ENSMUSG00000046697
AA Change: T98N

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: T98N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101880
Gene: ENSMUSG00000046697
AA Change: T98N

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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging Het
Other mutations in Enpp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Enpp7 APN 11 118,881,371 (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
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
Posted On 2015-04-16