Incidental Mutation 'R1295:Enpp6'
ID 158065
Institutional Source Beutler Lab
Gene Symbol Enpp6
Ensembl Gene ENSMUSG00000038173
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 6
Synonyms B830047L21Rik, 4833421B01Rik, D8Ertd514e, Npp6
MMRRC Submission 039361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1295 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 47439922-47549797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 47518535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 221 (I221S)
Ref Sequence ENSEMBL: ENSMUSP00000147811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039840] [ENSMUST00000119686] [ENSMUST00000123066]
AlphaFold Q8BGN3
Predicted Effect probably benign
Transcript: ENSMUST00000039840
AA Change: I221S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000044608
Gene: ENSMUSG00000038173
AA Change: I221S

DomainStartEndE-ValueType
Pfam:Phosphodiest 26 357 1.3e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119686
AA Change: I221S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112633
Gene: ENSMUSG00000038173
AA Change: I221S

DomainStartEndE-ValueType
Pfam:Phosphodiest 26 357 1.1e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123066
AA Change: I221S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000149593
SMART Domains Protein: ENSMUSP00000121470
Gene: ENSMUSG00000038173

DomainStartEndE-ValueType
PDB:4LR2|A 2 74 2e-10 PDB
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.1%
  • 20x: 82.0%
Validation Efficiency 98% (81/83)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 A G 9: 121,737,783 (GRCm39) S53G possibly damaging Het
Adgrb1 T A 15: 74,421,888 (GRCm39) L886Q probably damaging Het
Adprhl1 G A 8: 13,298,624 (GRCm39) T102M probably damaging Het
Akap6 A C 12: 52,933,812 (GRCm39) K435Q probably damaging Het
Aldh7a1 T C 18: 56,680,022 (GRCm39) probably null Het
Amfr T C 8: 94,701,432 (GRCm39) R507G probably benign Het
Ap1m1 T A 8: 73,005,719 (GRCm39) probably null Het
Arhgap29 A G 3: 121,786,044 (GRCm39) H275R probably benign Het
Arhgef17 C A 7: 100,530,476 (GRCm39) E428* probably null Het
Atm A T 9: 53,367,830 (GRCm39) V2431E probably damaging Het
Atn1 G T 6: 124,724,750 (GRCm39) P161Q unknown Het
Atp13a2 T C 4: 140,721,113 (GRCm39) S99P probably damaging Het
Ccar1 C A 10: 62,619,661 (GRCm39) probably null Het
Cdk18 T C 1: 132,047,698 (GRCm39) probably benign Het
Cep85 A G 4: 133,894,711 (GRCm39) W32R probably damaging Het
Col5a3 A G 9: 20,719,714 (GRCm39) F215S unknown Het
Decr1 T C 4: 15,919,207 (GRCm39) N312S possibly damaging Het
Diaph3 A T 14: 87,244,835 (GRCm39) W178R probably damaging Het
Dync2h1 A G 9: 7,075,752 (GRCm39) probably benign Het
Ehd3 C A 17: 74,135,181 (GRCm39) D352E probably damaging Het
Fam186a T C 15: 99,837,670 (GRCm39) probably benign Het
Gm5435 G T 12: 82,542,558 (GRCm39) noncoding transcript Het
Gpr22 A C 12: 31,759,513 (GRCm39) I203S probably benign Het
Gpr61 A G 3: 108,057,797 (GRCm39) V288A possibly damaging Het
Grik3 G A 4: 125,598,357 (GRCm39) probably benign Het
Gstcd T C 3: 132,711,389 (GRCm39) N431D probably damaging Het
H1f5 T C 13: 21,964,169 (GRCm39) S186G probably benign Het
Haao T A 17: 84,146,267 (GRCm39) Q69L probably benign Het
Ift140 G T 17: 25,307,907 (GRCm39) probably null Het
Ikbke A G 1: 131,197,963 (GRCm39) V381A probably benign Het
Ing1 A C 8: 11,611,501 (GRCm39) I38L probably benign Het
Ing1 T A 8: 11,611,502 (GRCm39) I38N probably damaging Het
Itga4 A G 2: 79,153,033 (GRCm39) M907V possibly damaging Het
Kcnk12 C T 17: 88,053,801 (GRCm39) G287D probably damaging Het
Kmt2e A C 5: 23,707,402 (GRCm39) H1655P probably damaging Het
Mbtd1 A G 11: 93,801,185 (GRCm39) Y122C probably damaging Het
Mif-ps9 T A 19: 56,743,766 (GRCm39) noncoding transcript Het
Mslnl T C 17: 25,962,214 (GRCm39) L204P probably damaging Het
Muc6 T C 7: 141,238,144 (GRCm39) E112G probably benign Het
Nav3 T A 10: 109,527,963 (GRCm39) D2240V probably damaging Het
Ndufaf3 T C 9: 108,443,892 (GRCm39) T9A probably damaging Het
Numb C A 12: 83,842,935 (GRCm39) probably benign Het
Prodh2 T C 7: 30,193,514 (GRCm39) V79A probably damaging Het
Psmb2 A G 4: 126,580,825 (GRCm39) Y73C probably damaging Het
Rmnd5a G A 6: 71,375,439 (GRCm39) L80F probably benign Het
Rnf19a G T 15: 36,244,247 (GRCm39) Y604* probably null Het
Ros1 T A 10: 51,964,028 (GRCm39) E1744V possibly damaging Het
Rpusd2 T C 2: 118,867,408 (GRCm39) F219L probably benign Het
Sall2 T C 14: 52,551,182 (GRCm39) N671S probably damaging Het
Sele T A 1: 163,878,379 (GRCm39) S239R probably damaging Het
Serpina3b T C 12: 104,097,138 (GRCm39) F140L probably damaging Het
Stxbp1 A T 2: 32,684,648 (GRCm39) S594T probably benign Het
Sufu G A 19: 46,443,159 (GRCm39) probably benign Het
Tbx2 A G 11: 85,725,592 (GRCm39) E181G probably damaging Het
Thumpd2 A G 17: 81,363,317 (GRCm39) V50A probably damaging Het
Tlcd4 A G 3: 121,000,940 (GRCm39) V231A probably benign Het
Ttn C A 2: 76,573,589 (GRCm39) R17441L probably damaging Het
Usp34 A G 11: 23,334,477 (GRCm39) Y1157C probably damaging Het
Vmn1r9 T C 6: 57,048,522 (GRCm39) V199A probably damaging Het
Vmn2r6 A G 3: 64,445,694 (GRCm39) F677S probably damaging Het
Vmn2r84 C T 10: 130,225,008 (GRCm39) A501T probably benign Het
Wapl C T 14: 34,446,726 (GRCm39) P605S probably damaging Het
Zfp598 A G 17: 24,898,623 (GRCm39) N474S probably benign Het
Zfyve26 A G 12: 79,321,694 (GRCm39) L975P probably damaging Het
Zp3r C T 1: 130,519,181 (GRCm39) G255D 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
R1533:Enpp6 UTSW 8 47,518,469 (GRCm39) missense probably benign 0.02
R1923:Enpp6 UTSW 8 47,535,541 (GRCm39) missense probably damaging 0.98
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'- GTCACCAAGCTGCTCAGGACTAAAC -3'
(R):5'- TCACGCATGAACCAAGGAGTCAG -3'

Sequencing Primer
(F):5'- CTGCCCACCTAATTTACATGGAAATG -3'
(R):5'- CAGTTGGTGCCTATGTGAAAAG -3'
Posted On 2014-02-18