Incidental Mutation 'R2051:Enpp1'
ID 226442
Institutional Source Beutler Lab
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
MMRRC Submission 040058-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # R2051 (G1)
Quality Score 171
Status Not validated
Chromosome 10
Chromosomal Location 24637914-24712159 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 24711804 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039882] [ENSMUST00000039882] [ENSMUST00000105520] [ENSMUST00000105520] [ENSMUST00000135846] [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 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 null
Transcript: ENSMUST00000105520
SMART Domains Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370

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 null
Transcript: ENSMUST00000105520
SMART Domains Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370

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 null
Transcript: ENSMUST00000135846
SMART Domains Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370

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 probably null
Transcript: ENSMUST00000135846
SMART Domains Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370

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
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,564,185 (GRCm38) T98M probably damaging Het
4932414N04Rik G T 2: 68,711,048 (GRCm38) K10N possibly damaging Het
Aadat T A 8: 60,507,139 (GRCm38) S40T probably benign Het
Abca13 A G 11: 9,328,098 (GRCm38) I3093V probably benign Het
Acacb A T 5: 114,245,890 (GRCm38) Q2160L probably damaging Het
Acp6 G T 3: 97,168,017 (GRCm38) S189I probably benign Het
Actr5 A T 2: 158,632,293 (GRCm38) M339L probably benign Het
Adcy1 A T 11: 7,161,885 (GRCm38) K917* probably null Het
Adgrg5 C T 8: 94,942,067 (GRCm38) R504C probably benign Het
Ago1 T C 4: 126,460,453 (GRCm38) H188R probably benign Het
Akap9 T A 5: 3,975,685 (GRCm38) C23* probably null Het
Ank3 T C 10: 69,898,090 (GRCm38) I728T probably damaging Het
Ankrd50 A G 3: 38,454,493 (GRCm38) S1242P probably benign Het
Arhgap29 G A 3: 121,981,860 (GRCm38) R84H probably benign Het
Arhgef10 A G 8: 14,945,320 (GRCm38) D7G probably null Het
Arid4b A G 13: 14,187,645 (GRCm38) E898G probably damaging Het
Atrnl1 A G 19: 57,691,849 (GRCm38) N727S probably benign Het
Baalc G T 15: 38,933,234 (GRCm38) probably benign Het
Cdc25c G C 18: 34,738,239 (GRCm38) L275V probably damaging Het
Chpf2 G T 5: 24,591,276 (GRCm38) V407L probably benign Het
Chrnb3 C A 8: 27,386,811 (GRCm38) N84K probably damaging Het
Cnot1 A G 8: 95,724,593 (GRCm38) F2171L possibly damaging Het
Csmd3 C T 15: 48,621,993 (GRCm38) probably null Het
Cux1 T A 5: 136,332,658 (GRCm38) Q138L probably damaging Het
Cyp2c65 A G 19: 39,082,231 (GRCm38) N286S probably benign Het
Dclre1b T C 3: 103,809,040 (GRCm38) S17G possibly damaging Het
Dlgap5 A G 14: 47,411,484 (GRCm38) S221P probably benign Het
Dnah1 T G 14: 31,279,123 (GRCm38) T2422P probably damaging Het
Erbb2 T C 11: 98,420,172 (GRCm38) C53R probably damaging Het
Exoc8 A G 8: 124,895,480 (GRCm38) V716A probably benign Het
Fam193a T A 5: 34,462,150 (GRCm38) D766E probably benign Het
Fbxo43 C A 15: 36,162,132 (GRCm38) G310W probably damaging Het
Fcgbp C T 7: 28,120,360 (GRCm38) T2504I probably damaging Het
Fnbp4 C T 2: 90,757,532 (GRCm38) P418L probably benign Het
Gjd2 T C 2: 114,011,058 (GRCm38) T313A probably damaging Het
Gm12695 T A 4: 96,769,771 (GRCm38) R54W probably damaging Het
Gm128 T C 3: 95,240,740 (GRCm38) D81G possibly damaging Het
Gm21834 A G 17: 57,741,768 (GRCm38) V151A possibly damaging Het
Grhl1 T A 12: 24,586,152 (GRCm38) probably null Het
Hcn1 C T 13: 117,976,083 (GRCm38) T861I probably damaging Het
Herc6 C A 6: 57,625,976 (GRCm38) Q547K probably benign Het
Iqgap3 T C 3: 88,120,167 (GRCm38) L699P probably damaging Het
Kank4 T C 4: 98,780,102 (GRCm38) D36G probably damaging Het
Kcnk5 A T 14: 20,142,209 (GRCm38) S295T probably damaging Het
Krt18 T C 15: 102,029,500 (GRCm38) V144A probably benign Het
Krtap9-5 A G 11: 99,949,204 (GRCm38) I244V unknown Het
Leng1 T G 7: 3,665,401 (GRCm38) N16T probably damaging Het
Lss A G 10: 76,531,878 (GRCm38) K15E possibly damaging Het
Mastl G T 2: 23,132,824 (GRCm38) A629E possibly damaging Het
Mavs G C 2: 131,240,450 (GRCm38) A85P possibly damaging Het
Nav3 T C 10: 109,824,675 (GRCm38) D678G probably damaging Het
Nsd3 T G 8: 25,691,089 (GRCm38) S906A probably damaging Het
Nsfl1c A G 2: 151,503,082 (GRCm38) N118S probably damaging Het
Nup205 T A 6: 35,230,516 (GRCm38) M1501K probably benign Het
Olfr1178 C T 2: 88,391,538 (GRCm38) T97M possibly damaging Het
Olfr429 T A 1: 174,089,219 (GRCm38) Y60N possibly damaging Het
Pax8 A G 2: 24,436,508 (GRCm38) S281P probably benign Het
Pds5b T G 5: 150,748,190 (GRCm38) I433R probably damaging Het
Peg3 T C 7: 6,712,721 (GRCm38) N117D probably damaging Het
Pfkm A T 15: 98,131,692 (GRCm38) D728V probably benign Het
Phkb T C 8: 86,049,821 (GRCm38) probably null Het
Pkp4 T C 2: 59,334,904 (GRCm38) V704A probably benign Het
Ppfia2 T A 10: 106,837,299 (GRCm38) S501T probably damaging Het
Ptpru T C 4: 131,819,087 (GRCm38) E284G possibly damaging Het
Ror1 C T 4: 100,407,868 (GRCm38) R180* probably null Het
Ryr3 T A 2: 112,756,641 (GRCm38) Y2666F probably damaging Het
Sec23a C A 12: 58,990,968 (GRCm38) probably null Het
Sertad3 C T 7: 27,476,269 (GRCm38) Q43* probably null Het
Setd2 C T 9: 110,550,890 (GRCm38) H1258Y probably benign Het
Sharpin A G 15: 76,348,207 (GRCm38) S177P probably benign Het
Skap1 T C 11: 96,541,463 (GRCm38) F86S possibly damaging Het
Slc8a2 T C 7: 16,141,015 (GRCm38) I396T probably damaging Het
Slc9a2 T C 1: 40,726,437 (GRCm38) F329S probably damaging Het
Slx4ip C T 2: 137,066,205 (GRCm38) L161F possibly damaging Het
Sox4 A G 13: 28,952,781 (GRCm38) S81P probably damaging Het
Ssc4d G T 5: 135,970,264 (GRCm38) S28R probably benign Het
St8sia2 C T 7: 73,943,202 (GRCm38) G369S possibly damaging Het
Swt1 T C 1: 151,372,330 (GRCm38) Y836C probably damaging Het
Taar7d A G 10: 24,028,006 (GRCm38) D262G probably benign Het
Taar8b T A 10: 24,091,314 (GRCm38) L327F probably benign Het
Tars A T 15: 11,393,194 (GRCm38) L138* probably null Het
Tbcd A T 11: 121,453,670 (GRCm38) D75V probably damaging Het
Tesc A G 5: 118,046,329 (GRCm38) I25V probably damaging Het
Tmem132e G T 11: 82,440,438 (GRCm38) S407I probably damaging Het
Tmem50b C A 16: 91,580,292 (GRCm38) A95S possibly damaging Het
Tnr T C 1: 159,892,033 (GRCm38) I960T probably benign Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Tpcn1 G C 5: 120,543,388 (GRCm38) P532A probably damaging Het
Tpsb2 T C 17: 25,366,565 (GRCm38) probably benign Het
Triobp C A 15: 79,004,540 (GRCm38) H1948Q probably damaging Het
Tshb T C 3: 102,777,541 (GRCm38) I116V probably benign Het
Ttc13 A T 8: 124,672,211 (GRCm38) probably null Het
Usp34 A T 11: 23,464,468 (GRCm38) T2804S probably damaging Het
Vmn2r18 A T 5: 151,562,551 (GRCm38) C493S possibly damaging Het
Vmn2r2 T C 3: 64,117,345 (GRCm38) K605R possibly damaging Het
Vmn2r37 T C 7: 9,217,793 (GRCm38) Y357C probably damaging Het
Zc3h6 T G 2: 129,015,618 (GRCm38) S686A possibly damaging Het
Zfp608 G A 18: 54,988,314 (GRCm38) P67L probably benign Het
Zyg11a T C 4: 108,192,047 (GRCm38) probably benign Het
Other mutations in Enpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Enpp1 APN 10 24,645,427 (GRCm38) missense possibly damaging 0.93
IGL00966:Enpp1 APN 10 24,654,031 (GRCm38) missense probably damaging 1.00
IGL01364:Enpp1 APN 10 24,664,614 (GRCm38) missense probably damaging 1.00
IGL02040:Enpp1 APN 10 24,655,856 (GRCm38) missense probably damaging 1.00
IGL02143:Enpp1 APN 10 24,677,974 (GRCm38) missense probably damaging 1.00
IGL02631:Enpp1 APN 10 24,641,961 (GRCm38) missense probably damaging 1.00
IGL02655:Enpp1 APN 10 24,677,974 (GRCm38) missense probably damaging 1.00
IGL02677:Enpp1 APN 10 24,679,185 (GRCm38) splice site probably benign
IGL02691:Enpp1 APN 10 24,711,892 (GRCm38) missense probably damaging 0.99
IGL02966:Enpp1 APN 10 24,660,274 (GRCm38) missense probably damaging 1.00
IGL03087:Enpp1 APN 10 24,655,881 (GRCm38) splice site probably benign
IGL03330:Enpp1 APN 10 24,664,906 (GRCm38) splice site probably benign
IGL03365:Enpp1 APN 10 24,669,025 (GRCm38) missense probably damaging 1.00
IGL03377:Enpp1 APN 10 24,660,283 (GRCm38) critical splice acceptor site probably null
PIT4651001:Enpp1 UTSW 10 24,653,950 (GRCm38) missense probably benign 0.16
R0011:Enpp1 UTSW 10 24,670,002 (GRCm38) nonsense probably null
R0201:Enpp1 UTSW 10 24,653,917 (GRCm38) missense probably benign 0.00
R0496:Enpp1 UTSW 10 24,672,052 (GRCm38) missense probably benign 0.18
R1228:Enpp1 UTSW 10 24,645,412 (GRCm38) missense probably benign 0.30
R1536:Enpp1 UTSW 10 24,641,834 (GRCm38) missense probably benign 0.27
R1927:Enpp1 UTSW 10 24,654,888 (GRCm38) missense possibly damaging 0.65
R2057:Enpp1 UTSW 10 24,660,192 (GRCm38) missense probably damaging 0.98
R2353:Enpp1 UTSW 10 24,651,341 (GRCm38) missense probably benign 0.24
R4077:Enpp1 UTSW 10 24,669,007 (GRCm38) critical splice donor site probably null
R4079:Enpp1 UTSW 10 24,669,007 (GRCm38) critical splice donor site probably null
R4739:Enpp1 UTSW 10 24,679,248 (GRCm38) missense probably null 0.99
R4740:Enpp1 UTSW 10 24,679,248 (GRCm38) missense probably null 0.99
R4761:Enpp1 UTSW 10 24,641,951 (GRCm38) missense possibly damaging 0.94
R4822:Enpp1 UTSW 10 24,661,935 (GRCm38) missense possibly damaging 0.74
R4919:Enpp1 UTSW 10 24,648,085 (GRCm38) missense probably benign 0.01
R5140:Enpp1 UTSW 10 24,652,852 (GRCm38) missense possibly damaging 0.51
R5302:Enpp1 UTSW 10 24,651,390 (GRCm38) missense probably benign
R5421:Enpp1 UTSW 10 24,669,757 (GRCm38) missense probably damaging 1.00
R5695:Enpp1 UTSW 10 24,654,908 (GRCm38) missense probably damaging 0.99
R5735:Enpp1 UTSW 10 24,654,919 (GRCm38) missense possibly damaging 0.92
R5789:Enpp1 UTSW 10 24,647,239 (GRCm38) missense probably benign
R5942:Enpp1 UTSW 10 24,676,068 (GRCm38) nonsense probably null
R6048:Enpp1 UTSW 10 24,660,254 (GRCm38) missense probably damaging 1.00
R6053:Enpp1 UTSW 10 24,657,126 (GRCm38) missense possibly damaging 0.93
R6305:Enpp1 UTSW 10 24,641,882 (GRCm38) missense probably damaging 1.00
R6319:Enpp1 UTSW 10 24,648,031 (GRCm38) missense probably damaging 1.00
R6624:Enpp1 UTSW 10 24,669,755 (GRCm38) nonsense probably null
R6793:Enpp1 UTSW 10 24,655,825 (GRCm38) missense probably damaging 1.00
R6936:Enpp1 UTSW 10 24,651,339 (GRCm38) missense probably benign 0.30
R7255:Enpp1 UTSW 10 24,645,315 (GRCm38) missense possibly damaging 0.95
R7285:Enpp1 UTSW 10 24,660,161 (GRCm38) missense probably benign 0.01
R7401:Enpp1 UTSW 10 24,645,282 (GRCm38) missense probably damaging 1.00
R7429:Enpp1 UTSW 10 24,711,950 (GRCm38) missense probably benign 0.00
R7430:Enpp1 UTSW 10 24,711,950 (GRCm38) missense probably benign 0.00
R7526:Enpp1 UTSW 10 24,674,410 (GRCm38) splice site probably null
R7532:Enpp1 UTSW 10 24,675,987 (GRCm38) missense probably benign 0.29
R7789:Enpp1 UTSW 10 24,654,083 (GRCm38) splice site probably null
R8073:Enpp1 UTSW 10 24,679,244 (GRCm38) missense possibly damaging 0.50
R8283:Enpp1 UTSW 10 24,674,656 (GRCm38) missense probably benign 0.25
R8955:Enpp1 UTSW 10 24,669,028 (GRCm38) missense probably benign 0.01
R9494:Enpp1 UTSW 10 24,651,336 (GRCm38) missense probably benign
Z1177:Enpp1 UTSW 10 24,661,942 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCAAATGTCCTGTATTCTCTGGG -3'
(R):5'- AGCCTATTAAAGCTCGGCCC -3'

Sequencing Primer
(F):5'- TATTCTCTGGGGGAAGAGGAC -3'
(R):5'- CAGAGCGGGGCGATGGAG -3'
Posted On 2014-09-17