Incidental Mutation 'IGL02966:Enpp1'
ID 365568
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 # IGL02966
Quality Score
Status
Chromosome 10
Chromosomal Location 24513812-24588057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24536172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 409 (E409D)
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: E409D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: E409D

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: E409D

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: E409D

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 80,463,317 (GRCm39) Y797N possibly damaging Het
Actbl2 G A 13: 111,392,106 (GRCm39) G147E probably damaging Het
Adam18 A T 8: 25,101,165 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,880,556 (GRCm39) V175I probably benign Het
Alox12 T A 11: 70,140,911 (GRCm39) T375S probably damaging Het
Batf2 C A 19: 6,221,819 (GRCm39) Q210K probably damaging Het
Bicd1 T C 6: 149,385,494 (GRCm39) S76P probably damaging Het
Bphl A T 13: 34,247,980 (GRCm39) H251L probably damaging Het
C130074G19Rik C A 1: 184,614,943 (GRCm39) E82D probably damaging Het
Calu A T 6: 29,356,584 (GRCm39) K39* probably null Het
Capns1 T C 7: 29,891,618 (GRCm39) D142G probably damaging Het
Ccr8 T C 9: 119,923,206 (GRCm39) V107A probably damaging Het
Cep170b G A 12: 112,702,878 (GRCm39) G447D possibly damaging Het
Chat C T 14: 32,170,903 (GRCm39) V199M probably damaging Het
Cntnap1 G T 11: 101,075,575 (GRCm39) V918L probably damaging Het
Cyp27a1 A G 1: 74,771,249 (GRCm39) T145A probably benign Het
Dgkq T A 5: 108,804,287 (GRCm39) probably null Het
Dnhd1 A G 7: 105,369,948 (GRCm39) I4458V probably benign Het
Fam78b G T 1: 166,906,457 (GRCm39) L205F probably damaging Het
Foxr2 C A X: 151,913,677 (GRCm39) R183S probably damaging Het
Ganc T C 2: 120,264,129 (GRCm39) S361P probably damaging Het
Gfra4 C A 2: 130,884,560 (GRCm39) A15S possibly damaging Het
Gm8011 A T 14: 42,287,957 (GRCm39) D145V unknown Het
Gnb4 A G 3: 32,639,372 (GRCm39) V307A probably benign Het
Hdac4 A T 1: 91,982,667 (GRCm39) V17E possibly damaging Het
Herc6 G A 6: 57,560,318 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,383 (GRCm39) T1945A probably benign Het
Ica1l A T 1: 60,049,298 (GRCm39) N218K probably damaging Het
Kmt2b A T 7: 30,274,887 (GRCm39) L1939Q probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Marchf8 C T 6: 116,380,499 (GRCm39) R117C probably damaging Het
Megf6 T C 4: 154,338,234 (GRCm39) S327P probably damaging Het
Mocos T G 18: 24,809,668 (GRCm39) C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 (GRCm39) W14R probably benign Het
Mysm1 A T 4: 94,863,523 (GRCm39) D23E probably benign Het
Naa35 T A 13: 59,734,085 (GRCm39) D34E probably benign Het
Nid1 A G 13: 13,656,806 (GRCm39) I646V probably benign Het
Nupr1 T C 7: 126,224,073 (GRCm39) probably benign Het
Or2aj6 G T 16: 19,443,051 (GRCm39) H266Q probably damaging Het
Or5b24 A T 19: 12,912,164 (GRCm39) I21F probably benign Het
Or8b12b T G 9: 37,684,882 (GRCm39) L309R probably benign Het
Pcbp2 A C 15: 102,392,684 (GRCm39) probably benign Het
Pde8b T C 13: 95,232,156 (GRCm39) Q158R probably damaging Het
Pdzd8 T C 19: 59,289,291 (GRCm39) Y703C probably damaging Het
Plxnb3 T C X: 72,808,889 (GRCm39) S885P probably benign Het
Poc1b T A 10: 98,980,176 (GRCm39) C136S probably damaging Het
Pole2 T C 12: 69,256,649 (GRCm39) D292G probably damaging Het
Prpf39 T C 12: 65,089,553 (GRCm39) V97A probably benign Het
Rbbp8 T A 18: 11,838,869 (GRCm39) H183Q possibly damaging Het
Scn2a C T 2: 65,532,188 (GRCm39) T600M possibly damaging Het
Spata32 T C 11: 103,099,629 (GRCm39) Q292R possibly damaging Het
Sugp1 T C 8: 70,523,758 (GRCm39) probably benign Het
Sult3a1 A C 10: 33,753,269 (GRCm39) probably benign Het
Tpm3-rs7 C T 14: 113,552,810 (GRCm39) Q235* probably null Het
Trbv2 A T 6: 41,024,685 (GRCm39) T34S possibly damaging Het
Tssk6 A G 8: 70,355,535 (GRCm39) Y193C probably benign Het
Ttn T C 2: 76,538,802 (GRCm39) K34676R possibly damaging Het
Ugt3a1 T C 15: 9,370,154 (GRCm39) Y433H probably damaging Het
Wdhd1 T C 14: 47,479,101 (GRCm39) K1072E possibly 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
IGL02040:Enpp1 APN 10 24,531,754 (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
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 2015-12-18