Incidental Mutation 'R5577:Enpp7'
ID 437268
Institutional Source Beutler Lab
Gene Symbol Enpp7
Ensembl Gene ENSMUSG00000046697
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 7
Synonyms Alk-SMase, LOC238011
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5577 (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 A at 118882953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 342 (N342K)
Ref Sequence ENSEMBL: ENSMUSP00000090027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092373] [ENSMUST00000106273]
AlphaFold Q3TIW9
Predicted Effect probably benign
Transcript: ENSMUST00000092373
AA Change: N342K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000090027
Gene: ENSMUSG00000046697
AA Change: N342K

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 benign
Transcript: ENSMUST00000106273
AA Change: N342K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101880
Gene: ENSMUSG00000046697
AA Change: N342K

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q probably 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
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
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'- CACATTGCAAACTTTTCCTAAGGTC -3'
(R):5'- AAGTTCACAGGCGCGTACAC -3'

Sequencing Primer
(F):5'- CTAAGGTCATCTGCCAACATGGG -3'
(R):5'- GATGCCAGGATTCCCATCGTTG -3'
Posted On 2016-10-26