Incidental Mutation 'R1168:Enpp6'
ID101330
Institutional Source Beutler Lab
Gene Symbol Enpp6
Ensembl Gene ENSMUSG00000038173
Gene Nameectonucleotide pyrophosphatase/phosphodiesterase 6
Synonyms4833421B01Rik, D8Ertd514e, Npp6, B830047L21Rik
MMRRC Submission 039241-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock #R1168 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location46986887-47096762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 47030454 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 94 (M94L)
Ref Sequence ENSEMBL: ENSMUSP00000044608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039840] [ENSMUST00000119686] [ENSMUST00000123066]
Predicted Effect probably damaging
Transcript: ENSMUST00000039840
AA Change: M94L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: M94L

DomainStartEndE-ValueType
Pfam:Phosphodiest 26 357 1.3e-79 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119686
AA Change: M94L

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: M94L

DomainStartEndE-ValueType
Pfam:Phosphodiest 26 357 1.1e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123066
AA Change: M94L

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140149
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,067,900 V950A probably benign Het
4930452B06Rik T C 14: 8,442,939 N610S probably benign Het
Adgrb3 A T 1: 25,826,199 S188T probably benign Het
Ahr A T 12: 35,504,532 N529K possibly damaging Het
Akr1c21 A G 13: 4,583,837 N302D probably benign Het
Aldh8a1 T A 10: 21,384,631 probably null Het
Alpk3 A T 7: 81,103,357 K1554M probably damaging Het
Arhgef5 T A 6: 43,273,396 H360Q probably benign Het
Cacna1a A G 8: 84,579,501 I1293V probably damaging Het
Cacna2d4 C T 6: 119,307,286 R745W probably damaging Het
Cd200r4 T A 16: 44,832,944 W72R probably damaging Het
Ces2e A T 8: 104,927,014 D28V possibly damaging Het
Cfap45 T C 1: 172,545,697 Y534H probably damaging Het
Cfap54 A T 10: 92,937,920 C87S probably damaging Het
Chmp7 C T 14: 69,719,450 M336I probably benign Het
Chrna4 T A 2: 181,034,138 M67L possibly damaging Het
Cts7 T A 13: 61,353,817 N290Y probably damaging Het
Fam83d C T 2: 158,768,523 A137V probably benign Het
Foxd2 C T 4: 114,907,678 A382T possibly damaging Het
Galnt11 T G 5: 25,250,246 S193R probably damaging Het
Gapvd1 A T 2: 34,704,469 D856E probably damaging Het
Gclm T A 3: 122,262,688 H86Q possibly damaging Het
Gipc2 T C 3: 152,107,997 T220A probably benign Het
Gm12185 G T 11: 48,915,355 N336K possibly damaging Het
Gm5431 A T 11: 48,895,364 S61R probably benign Het
Gm884 T C 11: 103,618,950 probably benign Het
Gorasp2 C T 2: 70,688,400 P260S probably damaging Het
H2-M10.6 A G 17: 36,813,160 Q172R probably benign Het
Ibsp A G 5: 104,302,152 I6V probably damaging Het
Iqsec1 T C 6: 90,689,676 Y593C probably damaging Het
Itln1 G T 1: 171,531,551 Y61* probably null Het
Kif21a G A 15: 90,993,753 T284I probably damaging Het
Kif3a G A 11: 53,598,312 G621R probably damaging Het
Klb A G 5: 65,378,974 Y549C probably damaging Het
Lman1l G A 9: 57,608,312 R427C probably benign Het
Map4 T C 9: 110,034,964 V419A probably benign Het
Mastl A T 2: 23,133,132 D526E probably benign Het
Mrvi1 T C 7: 110,895,931 K429R probably damaging Het
Mtif2 A G 11: 29,536,914 D308G probably benign Het
Ncald A G 15: 37,397,334 F34S probably damaging Het
Ndc1 A G 4: 107,395,812 T593A probably benign Het
Ndst3 C T 3: 123,606,968 V15I probably benign Het
Nup214 A G 2: 32,025,301 N1166D probably benign Het
Olfr1031 A T 2: 85,992,684 Y289F probably damaging Het
Olfr1240 G A 2: 89,439,869 Q137* probably null Het
Olfr1368 A G 13: 21,142,617 S147P probably benign Het
Olfr403 A G 11: 74,196,421 H306R probably benign Het
Pcdhb8 T C 18: 37,356,727 I486T probably benign Het
Pdzrn4 A T 15: 92,770,271 Y768F probably benign Het
Pgf A G 12: 85,171,767 S70P probably benign Het
Plcl2 G A 17: 50,607,072 A370T possibly damaging Het
Pnkp T A 7: 44,862,537 W115R probably benign Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prag1 A G 8: 36,146,645 E1117G probably damaging Het
Prr12 T A 7: 45,029,047 Q1919L unknown Het
Ret G T 6: 118,173,558 H666N possibly damaging Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Robo2 C T 16: 73,948,296 G864S probably damaging Het
Rpa2 T G 4: 132,771,860 I80S probably damaging Het
Ryk A T 9: 102,898,475 D428V probably damaging Het
Slc29a1 A T 17: 45,590,278 N30K probably damaging Het
Stbd1 A G 5: 92,604,936 N95S probably benign Het
Tbc1d22a A G 15: 86,292,134 E212G probably benign Het
Tex14 A G 11: 87,536,742 T7A probably benign Het
Tmc8 T C 11: 117,792,563 V648A possibly damaging Het
Tmem132b G T 5: 125,787,019 V730F probably damaging Het
Tmub2 G A 11: 102,287,370 G33D possibly damaging Het
Trak1 G A 9: 121,440,679 D124N probably damaging Het
Ttc28 A T 5: 111,231,111 Y1154F probably damaging Het
Ttn T C 2: 76,909,369 T3609A probably benign Het
Tulp2 A G 7: 45,517,842 T99A probably benign Het
Ugt2a2 A T 5: 87,465,568 probably null Het
Ush2a G A 1: 188,678,411 V2419I probably benign Het
Vill C A 9: 119,070,321 P343Q probably damaging Het
Vmn2r66 T A 7: 85,006,854 H318L possibly damaging Het
Wdr3 A C 3: 100,142,219 N800K probably benign Het
Wdr93 A G 7: 79,749,174 K19E probably damaging Het
Wrn A G 8: 33,316,408 S333P probably damaging Het
Zfp418 T C 7: 7,182,501 S488P possibly damaging Het
Zfp804a A G 2: 82,256,697 E290G probably benign Het
Other mutations in Enpp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Enpp6 APN 8 47065932 missense probably damaging 1.00
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
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
Predicted Primers
Posted On2014-01-15