Incidental Mutation 'R1923:Enpp6'
ID 213221
Institutional Source Beutler Lab
Gene Symbol Enpp6
Ensembl Gene ENSMUSG00000038173
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 6
Synonyms B830047L21Rik, 4833421B01Rik, D8Ertd514e, Npp6
MMRRC Submission 039941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1923 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 47439922-47549797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47535541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 362 (D362V)
Ref Sequence ENSEMBL: ENSMUSP00000112633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039840] [ENSMUST00000119686] [ENSMUST00000123066]
AlphaFold Q8BGN3
Predicted Effect probably damaging
Transcript: ENSMUST00000039840
AA Change: D362V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: D362V

DomainStartEndE-ValueType
Pfam:Phosphodiest 26 357 1.3e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119686
AA Change: D362V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: D362V

DomainStartEndE-ValueType
Pfam:Phosphodiest 26 357 1.1e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123066
Predicted Effect unknown
Transcript: ENSMUST00000149593
AA Change: D62V
SMART Domains Protein: ENSMUSP00000121470
Gene: ENSMUSG00000038173
AA Change: D62V

DomainStartEndE-ValueType
PDB:4LR2|A 2 74 2e-10 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210466
Meta Mutation Damage Score 0.3566 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (52/53)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,743 (GRCm39) E163G probably damaging Het
4921513D11Rik A G 17: 79,935,562 (GRCm39) probably benign Het
Acox3 T A 5: 35,749,459 (GRCm39) F195I possibly damaging Het
Acsl6 T C 11: 54,216,417 (GRCm39) Y135H probably damaging Het
Ankhd1 C A 18: 36,781,083 (GRCm39) A2045E probably benign Het
Ap5z1 A G 5: 142,458,096 (GRCm39) H423R probably benign Het
Arsk T A 13: 76,214,985 (GRCm39) probably benign Het
Bpi G A 2: 158,103,083 (GRCm39) G76D probably damaging Het
Carmil3 A G 14: 55,739,861 (GRCm39) T983A probably damaging Het
Ccdc192 A T 18: 57,666,959 (GRCm39) D12V probably damaging Het
Chmp2b A T 16: 65,342,213 (GRCm39) M125K possibly damaging Het
Clca3a2 T A 3: 144,511,491 (GRCm39) I26L probably damaging Het
Cubn T C 2: 13,315,337 (GRCm39) Y3032C probably damaging Het
Ehbp1 T A 11: 22,101,850 (GRCm39) D226V probably damaging Het
Fam53b A G 7: 132,317,521 (GRCm39) S374P probably damaging Het
Fmn1 T C 2: 113,260,066 (GRCm39) probably benign Het
Fndc7 C T 3: 108,784,003 (GRCm39) R202H probably benign Het
Frmd4b T G 6: 97,265,415 (GRCm39) D951A probably benign Het
Git2 A G 5: 114,877,162 (GRCm39) Y107H probably damaging Het
Gm11595 A T 11: 99,663,365 (GRCm39) V105E unknown Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrriq4 C A 3: 30,713,242 (GRCm39) Q448K probably benign Het
Ly6g5c A G 17: 35,330,863 (GRCm39) I128M possibly damaging Het
Mroh9 T A 1: 162,903,860 (GRCm39) S51C probably damaging Het
Myh3 A G 11: 66,970,828 (GRCm39) S2G probably benign Het
Nat8f4 A G 6: 85,878,497 (GRCm39) Y9H probably damaging Het
Negr1 T C 3: 156,267,836 (GRCm39) V2A probably benign Het
Or2y1 C T 11: 49,386,131 (GRCm39) T257I probably damaging Het
Or7g19 C T 9: 18,856,781 (GRCm39) T279I probably benign Het
Or8k32 T G 2: 86,368,857 (GRCm39) Y132S probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Pdgfra C A 5: 75,324,394 (GRCm39) T83K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Retreg1 A G 15: 25,969,924 (GRCm39) D109G probably damaging Het
Rgs12 T A 5: 35,189,613 (GRCm39) W674R probably damaging Het
Rgs18 T C 1: 144,631,818 (GRCm39) D98G possibly damaging Het
Rnf146 A G 10: 29,223,715 (GRCm39) F57S probably damaging Het
Skic3 T A 13: 76,282,889 (GRCm39) V737D probably damaging Het
Slc22a20 C A 19: 6,021,464 (GRCm39) V513L probably benign Het
Stox2 G T 8: 47,646,661 (GRCm39) F266L probably damaging Het
Tbx21 C T 11: 96,990,863 (GRCm39) V272M probably damaging Het
Tmc7 A G 7: 118,144,850 (GRCm39) F570S probably benign Het
Tmem236 T C 2: 14,224,117 (GRCm39) I302T probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm3 T C 19: 22,862,776 (GRCm39) L506S probably damaging Het
Uggt1 T C 1: 36,218,694 (GRCm39) I78V probably damaging Het
Xpo4 A T 14: 57,828,328 (GRCm39) V844D probably damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Other mutations in Enpp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Enpp6 APN 8 47,518,967 (GRCm39) missense probably damaging 1.00
IGL02882:Enpp6 APN 8 47,483,567 (GRCm39) missense probably damaging 1.00
R0025:Enpp6 UTSW 8 47,519,035 (GRCm39) missense probably damaging 0.99
R0025:Enpp6 UTSW 8 47,519,035 (GRCm39) missense probably damaging 0.99
R0331:Enpp6 UTSW 8 47,535,484 (GRCm39) missense probably damaging 1.00
R0525:Enpp6 UTSW 8 47,535,478 (GRCm39) missense possibly damaging 0.68
R1168:Enpp6 UTSW 8 47,483,489 (GRCm39) missense probably damaging 0.96
R1295:Enpp6 UTSW 8 47,518,535 (GRCm39) missense probably benign 0.00
R1533:Enpp6 UTSW 8 47,518,469 (GRCm39) missense probably benign 0.02
R2031:Enpp6 UTSW 8 47,506,649 (GRCm39) missense probably damaging 0.99
R2090:Enpp6 UTSW 8 47,518,405 (GRCm39) critical splice acceptor site probably null
R2656:Enpp6 UTSW 8 47,535,453 (GRCm39) nonsense probably null
R3620:Enpp6 UTSW 8 47,518,540 (GRCm39) missense probably benign 0.03
R3621:Enpp6 UTSW 8 47,518,540 (GRCm39) missense probably benign 0.03
R3862:Enpp6 UTSW 8 47,519,027 (GRCm39) missense probably benign 0.33
R4284:Enpp6 UTSW 8 47,522,050 (GRCm39) missense probably damaging 1.00
R4592:Enpp6 UTSW 8 47,546,067 (GRCm39) missense probably damaging 0.99
R4899:Enpp6 UTSW 8 47,440,118 (GRCm39) missense probably damaging 1.00
R4963:Enpp6 UTSW 8 47,518,496 (GRCm39) missense probably benign 0.30
R5201:Enpp6 UTSW 8 47,518,486 (GRCm39) missense probably damaging 0.99
R5322:Enpp6 UTSW 8 47,521,950 (GRCm39) missense probably benign 0.06
R5933:Enpp6 UTSW 8 47,519,039 (GRCm39) missense probably benign 0.22
R8783:Enpp6 UTSW 8 47,440,220 (GRCm39) missense possibly damaging 0.47
R9372:Enpp6 UTSW 8 47,506,627 (GRCm39) missense possibly damaging 0.91
R9447:Enpp6 UTSW 8 47,483,600 (GRCm39) missense probably damaging 0.97
R9710:Enpp6 UTSW 8 47,518,948 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCTGCAGTCAGTGTTTTC -3'
(R):5'- ATCGTGTCAACCTTGAGACTC -3'

Sequencing Primer
(F):5'- GCAGTCAGTGTTTTCCCAGAAGC -3'
(R):5'- TTGAGACTCACAGCTGTCAG -3'
Posted On 2014-07-14