Incidental Mutation 'IGL02631:Enpp1'
ID 301309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp1
Ensembl Gene ENSMUSG00000037370
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 1
Synonyms PC-1, Npps, E-NPP1, Pca-1, twy, NPP1, 4833416E15Rik, Pdnp1, Pca, CD203c, Ly-41
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.299) question?
Stock # IGL02631
Quality Score
Status
Chromosome 10
Chromosomal Location 24637914-24712159 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24641961 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 855 (S855P)
Ref Sequence ENSEMBL: ENSMUSP00000101159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039882] [ENSMUST00000105520] [ENSMUST00000135846]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039882
SMART Domains Protein: ENSMUSP00000046090
Gene: ENSMUSG00000037370

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
low complexity region 59 69 N/A INTRINSIC
SO 86 126 2.17e-14 SMART
SO 127 170 1.51e-13 SMART
Pfam:Phosphodiest 194 358 1e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105520
AA Change: S855P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: S855P

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
SO 86 126 2.17e-14 SMART
SO 127 170 1.51e-13 SMART
Pfam:Phosphodiest 194 520 1.8e-87 PFAM
Endonuclease_NS 655 873 5.33e-15 SMART
NUC 656 887 3.62e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135846
AA Change: S856P

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: S856P

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
SO 86 126 2.17e-14 SMART
SO 127 170 1.51e-13 SMART
Pfam:Phosphodiest 194 520 4.2e-91 PFAM
Endonuclease_NS 656 874 5.33e-15 SMART
NUC 657 888 3.62e-107 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the nucleoside pyrophosphatase/phosphodiesterase family of enzymes that catalyzes the hydrolysis of pyrophosphate and phosphodiester bonds in nucleotide triphosphates and oligonucleotides, respectively, to generate nucleoside 5'-monophosphates. The encoded protein is a type II transmembrane glycoprotein that negatively regulates bone mineralization. Mice harboring a nonsense mutation in this gene, termed tiptoe walking (ttw), exhibit ectopic ossification of the spinal ligaments. The encoded protein binds to the insulin receptor, inhibits downstream signaling events and induces insulin resistance and glucose tolerance. This gene is located adjacent to a paralog on chromosome 10. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele develop hyperostosis leading to ossific intervertebral fusion, peripheral joint ankylosis and tendon calcification, and display spontaneous arterial and articular cartilage calcification, and altered adipocyte maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 A G 6: 113,748,545 S1242P probably damaging Het
Bglap A T 3: 88,383,680 Y81* probably null Het
Ccdc83 T C 7: 90,244,069 D160G possibly damaging Het
Cep97 A T 16: 55,922,178 C135* probably null Het
Cog1 C T 11: 113,656,478 Q633* probably null Het
Cyp4f40 A T 17: 32,675,635 probably benign Het
Dennd2c T A 3: 103,156,071 M608K possibly damaging Het
Eprs T C 1: 185,427,898 I1457T probably damaging Het
Fam149b G A 14: 20,375,546 V300M probably damaging Het
Fcgbp T A 7: 28,085,298 L261Q probably damaging Het
Flt1 G T 5: 147,673,574 S413* probably null Het
Flt3 T G 5: 147,344,552 D790A probably damaging Het
Gpat2 A G 2: 127,434,232 probably benign Het
Gpr151 T C 18: 42,578,770 K281R probably benign Het
Hoxa5 G A 6: 52,203,810 R181C probably damaging Het
Irx4 C T 13: 73,268,477 R331W probably damaging Het
Lmo2 T C 2: 103,981,087 I155T probably benign Het
Nbeal2 G A 9: 110,630,208 R1944C probably damaging Het
Obp2b A G 2: 25,739,243 N141S probably damaging Het
Olfr1257 T A 2: 89,881,255 V143E possibly damaging Het
Olfr140 T A 2: 90,051,442 N294I probably damaging Het
Papss2 T A 19: 32,634,004 probably benign Het
Rapgef2 A T 3: 79,083,226 M915K possibly damaging Het
Raver2 A C 4: 101,096,302 D89A probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Setd2 A G 9: 110,550,576 D1153G possibly damaging Het
Slc25a12 C T 2: 71,296,742 G365E possibly damaging Het
Slc35e4 A C 11: 3,907,729 V292G probably damaging Het
Slc36a4 T C 9: 15,726,941 V221A probably damaging Het
Slc7a14 C A 3: 31,238,678 A153S probably damaging Het
Smc1b T C 15: 85,107,003 D658G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tab3 A G X: 85,614,533 N222S probably benign Het
Tdrd6 T A 17: 43,626,219 T1313S probably damaging Het
Tnfrsf1b A T 4: 145,224,828 C181S probably damaging Het
Trdn A T 10: 33,363,976 probably null Het
Trip12 A T 1: 84,766,008 V526E possibly damaging Het
Trps1 T C 15: 50,846,021 D311G probably damaging Het
Ttf1 A G 2: 29,069,900 I507V probably damaging Het
Unc80 A C 1: 66,530,063 D959A probably damaging Het
Unc93b1 T C 19: 3,942,026 probably benign Het
Utrn A G 10: 12,710,063 F990S probably benign Het
V1rd19 T C 7: 24,003,400 L97P probably damaging Het
Other mutations in Enpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Enpp1 APN 10 24645427 missense possibly damaging 0.93
IGL00966:Enpp1 APN 10 24654031 missense probably damaging 1.00
IGL01364:Enpp1 APN 10 24664614 missense probably damaging 1.00
IGL02040:Enpp1 APN 10 24655856 missense probably damaging 1.00
IGL02143:Enpp1 APN 10 24677974 missense probably damaging 1.00
IGL02655:Enpp1 APN 10 24677974 missense probably damaging 1.00
IGL02677:Enpp1 APN 10 24679185 splice site probably benign
IGL02691:Enpp1 APN 10 24711892 missense probably damaging 0.99
IGL02966:Enpp1 APN 10 24660274 missense probably damaging 1.00
IGL03087:Enpp1 APN 10 24655881 splice site probably benign
IGL03330:Enpp1 APN 10 24664906 splice site probably benign
IGL03365:Enpp1 APN 10 24669025 missense probably damaging 1.00
IGL03377:Enpp1 APN 10 24660283 critical splice acceptor site probably null
PIT4651001:Enpp1 UTSW 10 24653950 missense probably benign 0.16
R0011:Enpp1 UTSW 10 24670002 nonsense probably null
R0201:Enpp1 UTSW 10 24653917 missense probably benign 0.00
R0496:Enpp1 UTSW 10 24672052 missense probably benign 0.18
R1228:Enpp1 UTSW 10 24645412 missense probably benign 0.30
R1536:Enpp1 UTSW 10 24641834 missense probably benign 0.27
R1927:Enpp1 UTSW 10 24654888 missense possibly damaging 0.65
R2051:Enpp1 UTSW 10 24711804 critical splice donor site probably null
R2057:Enpp1 UTSW 10 24660192 missense probably damaging 0.98
R2353:Enpp1 UTSW 10 24651341 missense probably benign 0.24
R4077:Enpp1 UTSW 10 24669007 critical splice donor site probably null
R4079:Enpp1 UTSW 10 24669007 critical splice donor site probably null
R4739:Enpp1 UTSW 10 24679248 missense probably null 0.99
R4740:Enpp1 UTSW 10 24679248 missense probably null 0.99
R4761:Enpp1 UTSW 10 24641951 missense possibly damaging 0.94
R4822:Enpp1 UTSW 10 24661935 missense possibly damaging 0.74
R4919:Enpp1 UTSW 10 24648085 missense probably benign 0.01
R5140:Enpp1 UTSW 10 24652852 missense possibly damaging 0.51
R5302:Enpp1 UTSW 10 24651390 missense probably benign
R5421:Enpp1 UTSW 10 24669757 missense probably damaging 1.00
R5695:Enpp1 UTSW 10 24654908 missense probably damaging 0.99
R5735:Enpp1 UTSW 10 24654919 missense possibly damaging 0.92
R5789:Enpp1 UTSW 10 24647239 missense probably benign
R5942:Enpp1 UTSW 10 24676068 nonsense probably null
R6048:Enpp1 UTSW 10 24660254 missense probably damaging 1.00
R6053:Enpp1 UTSW 10 24657126 missense possibly damaging 0.93
R6305:Enpp1 UTSW 10 24641882 missense probably damaging 1.00
R6319:Enpp1 UTSW 10 24648031 missense probably damaging 1.00
R6624:Enpp1 UTSW 10 24669755 nonsense probably null
R6793:Enpp1 UTSW 10 24655825 missense probably damaging 1.00
R6936:Enpp1 UTSW 10 24651339 missense probably benign 0.30
R7255:Enpp1 UTSW 10 24645315 missense possibly damaging 0.95
R7285:Enpp1 UTSW 10 24660161 missense probably benign 0.01
R7401:Enpp1 UTSW 10 24645282 missense probably damaging 1.00
R7429:Enpp1 UTSW 10 24711950 missense probably benign 0.00
R7430:Enpp1 UTSW 10 24711950 missense probably benign 0.00
R7526:Enpp1 UTSW 10 24674410 splice site probably null
R7532:Enpp1 UTSW 10 24675987 missense probably benign 0.29
R7789:Enpp1 UTSW 10 24654083 splice site probably null
R8073:Enpp1 UTSW 10 24679244 missense possibly damaging 0.50
R8283:Enpp1 UTSW 10 24674656 missense probably benign 0.25
R8955:Enpp1 UTSW 10 24669028 missense probably benign 0.01
R9494:Enpp1 UTSW 10 24651336 missense probably benign
Z1177:Enpp1 UTSW 10 24661942 missense probably damaging 0.96
Posted On 2015-04-16