Incidental Mutation 'IGL02040:Enpp1'
ID 184689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp1
Ensembl Gene ENSMUSG00000037370
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 1
Synonyms PC-1, E-NPP1, Npps, Pca, Pdnp1, CD203c, twy, NPP1, 4833416E15Rik, Pca-1, Ly-41
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL02040
Quality Score
Status
Chromosome 10
Chromosomal Location 24513812-24588057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24531754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 510 (K510E)
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: K510E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: K510E

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 possibly damaging
Transcript: ENSMUST00000135846
AA Change: K510E

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: K510E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150570
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,630,405 (GRCm39) F107C probably damaging Het
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
A830018L16Rik T A 1: 12,003,822 (GRCm39) probably benign Het
Adgrb1 T C 15: 74,413,424 (GRCm39) V536A possibly damaging Het
Ano6 T G 15: 95,853,825 (GRCm39) I667R probably benign Het
Ap3b1 T A 13: 94,545,353 (GRCm39) probably null Het
Azin2 G T 4: 128,844,451 (GRCm39) L37M possibly damaging Het
Caap1 A G 4: 94,438,667 (GRCm39) I174T probably damaging Het
Cacna1h A G 17: 25,616,585 (GRCm39) V46A probably benign Het
Chrna6 T C 8: 27,897,289 (GRCm39) D196G probably damaging Het
Col19a1 A G 1: 24,351,126 (GRCm39) probably null Het
Defb22 G T 2: 152,331,976 (GRCm39) T19K possibly damaging Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dync1h1 A G 12: 110,603,558 (GRCm39) I2211V probably benign Het
Ecel1 A C 1: 87,082,645 (GRCm39) C23G probably benign Het
Elmod2 A G 8: 84,048,126 (GRCm39) V112A probably damaging Het
Erbb4 A T 1: 68,081,694 (GRCm39) S1113R probably damaging Het
Esf1 A T 2: 139,971,181 (GRCm39) D653E possibly damaging Het
Exd1 A G 2: 119,370,546 (GRCm39) V54A possibly damaging Het
Fam227b A T 2: 125,963,004 (GRCm39) probably benign Het
Fnbp1l A G 3: 122,364,602 (GRCm39) probably benign Het
Foxf1 A G 8: 121,812,084 (GRCm39) N316S probably damaging Het
Gpaa1 T C 15: 76,218,495 (GRCm39) V426A probably benign Het
Gpc2 A G 5: 138,274,844 (GRCm39) probably null Het
Hnrnpab A G 11: 51,492,622 (GRCm39) probably benign Het
Hsf4 T G 8: 106,002,299 (GRCm39) probably benign Het
Inpp4a G T 1: 37,435,166 (GRCm39) R179L probably damaging Het
Jakmip2 T A 18: 43,704,919 (GRCm39) M361L probably benign Het
Kif15 A C 9: 122,846,450 (GRCm39) Y117S probably damaging Het
Lnpep T C 17: 17,765,167 (GRCm39) H761R probably benign Het
Masp2 G T 4: 148,688,270 (GRCm39) C180F probably damaging Het
Mical2 A G 7: 111,910,613 (GRCm39) E261G probably damaging Het
Mtmr7 T C 8: 41,013,926 (GRCm39) I211V probably benign Het
Nsd2 T C 5: 34,024,915 (GRCm39) probably benign Het
Or4c121 A G 2: 89,023,907 (GRCm39) I157T probably benign Het
Or51q1c A G 7: 103,652,614 (GRCm39) N44S probably damaging Het
Or8d1b T C 9: 38,887,910 (GRCm39) probably benign Het
Or8j3c A G 2: 86,253,336 (GRCm39) I228T probably damaging Het
Oxct1 G A 15: 4,056,250 (GRCm39) probably benign Het
Pira13 A G 7: 3,824,516 (GRCm39) probably benign Het
Plbd2 C T 5: 120,625,507 (GRCm39) S430N probably damaging Het
Postn A G 3: 54,270,110 (GRCm39) K63R probably benign Het
Pramel19 G A 4: 101,798,331 (GRCm39) V101I possibly damaging Het
Proc A T 18: 32,267,913 (GRCm39) V75E probably benign Het
Ptprt T C 2: 162,079,992 (GRCm39) Y269C probably damaging Het
Rcc2 T C 4: 140,447,902 (GRCm39) V476A possibly damaging Het
Recql5 A G 11: 115,823,623 (GRCm39) V41A possibly damaging Het
Ros1 T A 10: 51,992,018 (GRCm39) I1402F probably damaging Het
Rpgrip1 C T 14: 52,358,476 (GRCm39) T194I possibly damaging Het
Scin T C 12: 40,119,452 (GRCm39) probably benign Het
Skint4 T C 4: 112,003,679 (GRCm39) probably benign Het
Sptan1 T A 2: 29,903,725 (GRCm39) S1545T probably benign Het
Tpra1 A T 6: 88,887,164 (GRCm39) H168L possibly damaging Het
Trim47 T C 11: 115,998,734 (GRCm39) E295G probably damaging Het
Ttc28 T A 5: 111,040,802 (GRCm39) C63* probably null Het
Usp45 G A 4: 21,830,433 (GRCm39) R696H probably benign Het
Zfyve27 G A 19: 42,167,830 (GRCm39) R124Q probably damaging Het
Other mutations in Enpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Enpp1 APN 10 24,521,325 (GRCm39) missense possibly damaging 0.93
IGL00966:Enpp1 APN 10 24,529,929 (GRCm39) missense probably damaging 1.00
IGL01364:Enpp1 APN 10 24,540,512 (GRCm39) missense probably damaging 1.00
IGL02143:Enpp1 APN 10 24,553,872 (GRCm39) missense probably damaging 1.00
IGL02631:Enpp1 APN 10 24,517,859 (GRCm39) missense probably damaging 1.00
IGL02655:Enpp1 APN 10 24,553,872 (GRCm39) missense probably damaging 1.00
IGL02677:Enpp1 APN 10 24,555,083 (GRCm39) splice site probably benign
IGL02691:Enpp1 APN 10 24,587,790 (GRCm39) missense probably damaging 0.99
IGL02966:Enpp1 APN 10 24,536,172 (GRCm39) missense probably damaging 1.00
IGL03087:Enpp1 APN 10 24,531,779 (GRCm39) splice site probably benign
IGL03330:Enpp1 APN 10 24,540,804 (GRCm39) splice site probably benign
IGL03365:Enpp1 APN 10 24,544,923 (GRCm39) missense probably damaging 1.00
IGL03377:Enpp1 APN 10 24,536,181 (GRCm39) critical splice acceptor site probably null
PIT4651001:Enpp1 UTSW 10 24,529,848 (GRCm39) missense probably benign 0.16
R0011:Enpp1 UTSW 10 24,545,900 (GRCm39) nonsense probably null
R0201:Enpp1 UTSW 10 24,529,815 (GRCm39) missense probably benign 0.00
R0496:Enpp1 UTSW 10 24,547,950 (GRCm39) missense probably benign 0.18
R1228:Enpp1 UTSW 10 24,521,310 (GRCm39) missense probably benign 0.30
R1536:Enpp1 UTSW 10 24,517,732 (GRCm39) missense probably benign 0.27
R1927:Enpp1 UTSW 10 24,530,786 (GRCm39) missense possibly damaging 0.65
R2051:Enpp1 UTSW 10 24,587,702 (GRCm39) critical splice donor site probably null
R2057:Enpp1 UTSW 10 24,536,090 (GRCm39) missense probably damaging 0.98
R2353:Enpp1 UTSW 10 24,527,239 (GRCm39) missense probably benign 0.24
R4077:Enpp1 UTSW 10 24,544,905 (GRCm39) critical splice donor site probably null
R4079:Enpp1 UTSW 10 24,544,905 (GRCm39) critical splice donor site probably null
R4739:Enpp1 UTSW 10 24,555,146 (GRCm39) missense probably null 0.99
R4740:Enpp1 UTSW 10 24,555,146 (GRCm39) missense probably null 0.99
R4761:Enpp1 UTSW 10 24,517,849 (GRCm39) missense possibly damaging 0.94
R4822:Enpp1 UTSW 10 24,537,833 (GRCm39) missense possibly damaging 0.74
R4919:Enpp1 UTSW 10 24,523,983 (GRCm39) missense probably benign 0.01
R5140:Enpp1 UTSW 10 24,528,750 (GRCm39) missense possibly damaging 0.51
R5302:Enpp1 UTSW 10 24,527,288 (GRCm39) missense probably benign
R5421:Enpp1 UTSW 10 24,545,655 (GRCm39) missense probably damaging 1.00
R5695:Enpp1 UTSW 10 24,530,806 (GRCm39) missense probably damaging 0.99
R5735:Enpp1 UTSW 10 24,530,817 (GRCm39) missense possibly damaging 0.92
R5789:Enpp1 UTSW 10 24,523,137 (GRCm39) missense probably benign
R5942:Enpp1 UTSW 10 24,551,966 (GRCm39) nonsense probably null
R6048:Enpp1 UTSW 10 24,536,152 (GRCm39) missense probably damaging 1.00
R6053:Enpp1 UTSW 10 24,533,024 (GRCm39) missense possibly damaging 0.93
R6305:Enpp1 UTSW 10 24,517,780 (GRCm39) missense probably damaging 1.00
R6319:Enpp1 UTSW 10 24,523,929 (GRCm39) missense probably damaging 1.00
R6624:Enpp1 UTSW 10 24,545,653 (GRCm39) nonsense probably null
R6793:Enpp1 UTSW 10 24,531,723 (GRCm39) missense probably damaging 1.00
R6936:Enpp1 UTSW 10 24,527,237 (GRCm39) missense probably benign 0.30
R7255:Enpp1 UTSW 10 24,521,213 (GRCm39) missense possibly damaging 0.95
R7285:Enpp1 UTSW 10 24,536,059 (GRCm39) missense probably benign 0.01
R7401:Enpp1 UTSW 10 24,521,180 (GRCm39) missense probably damaging 1.00
R7429:Enpp1 UTSW 10 24,587,848 (GRCm39) missense probably benign 0.00
R7430:Enpp1 UTSW 10 24,587,848 (GRCm39) missense probably benign 0.00
R7526:Enpp1 UTSW 10 24,550,308 (GRCm39) splice site probably null
R7532:Enpp1 UTSW 10 24,551,885 (GRCm39) missense probably benign 0.29
R7789:Enpp1 UTSW 10 24,529,981 (GRCm39) splice site probably null
R8073:Enpp1 UTSW 10 24,555,142 (GRCm39) missense possibly damaging 0.50
R8283:Enpp1 UTSW 10 24,550,554 (GRCm39) missense probably benign 0.25
R8955:Enpp1 UTSW 10 24,544,926 (GRCm39) missense probably benign 0.01
R9494:Enpp1 UTSW 10 24,527,234 (GRCm39) missense probably benign
Z1177:Enpp1 UTSW 10 24,537,840 (GRCm39) missense probably damaging 0.96
Posted On 2014-05-07