Incidental Mutation 'IGL02215:Enpp6'
ID284839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp6
Ensembl Gene ENSMUSG00000038173
Gene Nameectonucleotide pyrophosphatase/phosphodiesterase 6
Synonyms4833421B01Rik, D8Ertd514e, Npp6, B830047L21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL02215
Quality Score
Status
Chromosome8
Chromosomal Location46986887-47096762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 47065932 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 245 (D245V)
Ref Sequence ENSEMBL: ENSMUSP00000112633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039840] [ENSMUST00000119686] [ENSMUST00000123066]
Predicted Effect probably damaging
Transcript: ENSMUST00000039840
AA Change: D245V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: D245V

DomainStartEndE-ValueType
Pfam:Phosphodiest 26 357 1.3e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119686
AA Change: D245V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: D245V

DomainStartEndE-ValueType
Pfam:Phosphodiest 26 357 1.1e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123066
Predicted Effect probably benign
Transcript: ENSMUST00000149593
SMART Domains Protein: ENSMUSP00000121470
Gene: ENSMUSG00000038173

DomainStartEndE-ValueType
PDB:4LR2|A 2 74 2e-10 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the nucleotide pyrophosphatase/phosphodiesterase family of enzymes that play an important role in regulating extracellular nucleotide metabolism. The encoded preproprotein undergoes proteolytic processing to generate a glycosylphosphatidylinositol (GPI)-anchored membrane protein that hydrolyzes choline-containing lysophospholipids such as glycerophosphocholine. Mice lacking the encoded protein develop fatty liver and myelin sheath abnormalities. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,573 S378R probably benign Het
Abca14 T A 7: 120,253,389 M859K probably benign Het
Adamts13 C T 2: 26,985,483 P462S probably damaging Het
Apol7a G T 15: 77,393,490 D19E possibly damaging Het
Armc8 T C 9: 99,483,978 N628D possibly damaging Het
Astn2 T A 4: 66,266,234 I209F unknown Het
Atp10b T C 11: 43,194,665 probably null Het
C4b C T 17: 34,734,491 C1006Y probably damaging Het
Capn13 A G 17: 73,330,998 L470P probably damaging Het
Col4a4 T C 1: 82,453,809 R1585G unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd3 C T 15: 47,585,688 V3637M probably damaging Het
Dgki C T 6: 37,016,675 D584N probably damaging Het
Dmrt2 T C 19: 25,678,134 S366P probably damaging Het
Dmtf1 A C 5: 9,136,070 L172R probably damaging Het
Efhc2 A G X: 17,230,578 F177L probably damaging Het
Enpep T A 3: 129,270,277 probably benign Het
Fam199x T A X: 137,062,650 probably benign Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Gas7 A G 11: 67,643,332 H86R probably benign Het
Gcc2 A G 10: 58,271,636 N862S probably benign Het
Gstm7 T C 3: 107,930,278 D115G possibly damaging Het
Gtse1 C A 15: 85,862,598 P205Q possibly damaging Het
Herc4 G A 10: 63,273,566 M193I probably benign Het
Hist1h2ba A T 13: 23,934,110 F16Y probably benign Het
Igfl3 T A 7: 18,179,838 C38S possibly damaging Het
Il18rap G A 1: 40,547,922 D455N probably damaging Het
Ints8 A G 4: 11,209,244 I932T probably damaging Het
Itgbl1 A C 14: 123,972,141 I311L probably benign Het
Jmjd1c A T 10: 67,220,322 H794L probably damaging Het
Kif1a A G 1: 93,020,549 S1542P probably benign Het
Klc3 T A 7: 19,395,825 N373I probably damaging Het
Lcn2 T C 2: 32,384,865 *201W probably null Het
Ldhb A T 6: 142,495,566 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Npat T A 9: 53,559,117 S348T probably benign Het
Pclo A T 5: 14,856,985 D5001V unknown Het
Peg3 C A 7: 6,709,011 A1071S probably benign Het
Piwil2 A T 14: 70,391,373 D731E possibly damaging Het
Prss41 T A 17: 23,843,856 D35V probably benign Het
Ptprz1 T A 6: 22,965,182 D159E possibly damaging Het
Rabep1 C T 11: 70,923,197 Q571* probably null Het
Scn8a A G 15: 101,029,572 probably null Het
Sipa1l2 G A 8: 125,447,837 T1234I possibly damaging Het
Slc5a10 T A 11: 61,673,912 M414L probably benign Het
Smg5 T C 3: 88,352,998 S632P possibly damaging Het
Smim15 A G 13: 108,047,514 D18G probably benign Het
Sorl1 T A 9: 42,018,182 I1132F probably damaging Het
Spatc1 T C 15: 76,283,539 probably benign Het
Sytl2 A T 7: 90,381,214 probably benign Het
Tesc A G 5: 118,061,618 D195G probably damaging Het
Tmem39b T A 4: 129,692,518 probably null Het
Vmn2r52 A G 7: 10,171,102 V270A probably damaging Het
Wdr3 C A 3: 100,146,700 probably null Het
Other mutations in Enpp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02882:Enpp6 APN 8 47030532 missense probably damaging 1.00
R0025:Enpp6 UTSW 8 47066000 missense probably damaging 0.99
R0025:Enpp6 UTSW 8 47066000 missense probably damaging 0.99
R0331:Enpp6 UTSW 8 47082449 missense probably damaging 1.00
R0525:Enpp6 UTSW 8 47082443 missense possibly damaging 0.68
R1168:Enpp6 UTSW 8 47030454 missense probably damaging 0.96
R1295:Enpp6 UTSW 8 47065500 missense probably benign 0.00
R1533:Enpp6 UTSW 8 47065434 missense probably benign 0.02
R1923:Enpp6 UTSW 8 47082506 missense probably damaging 0.98
R2031:Enpp6 UTSW 8 47053614 missense probably damaging 0.99
R2090:Enpp6 UTSW 8 47065370 critical splice acceptor site probably null
R2656:Enpp6 UTSW 8 47082418 nonsense probably null
R3620:Enpp6 UTSW 8 47065505 missense probably benign 0.03
R3621:Enpp6 UTSW 8 47065505 missense probably benign 0.03
R3862:Enpp6 UTSW 8 47065992 missense probably benign 0.33
R4284:Enpp6 UTSW 8 47069015 missense probably damaging 1.00
R4592:Enpp6 UTSW 8 47093032 missense probably damaging 0.99
R4899:Enpp6 UTSW 8 46987083 missense probably damaging 1.00
R4963:Enpp6 UTSW 8 47065461 missense probably benign 0.30
R5201:Enpp6 UTSW 8 47065451 missense probably damaging 0.99
R5322:Enpp6 UTSW 8 47068915 missense probably benign 0.06
R5933:Enpp6 UTSW 8 47066004 missense probably benign 0.22
Posted On2015-04-16