Incidental Mutation 'R5735:Enpp1'
ID 451660
Institutional Source Beutler Lab
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
MMRRC Submission 043349-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R5735 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 24513812-24588057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24530817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 546 (F546L)
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 possibly damaging
Transcript: ENSMUST00000105520
AA Change: F546L

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: F546L

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: F546L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: F546L

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: 99.0%
  • 3x: 98.3%
  • 10x: 96.8%
  • 20x: 94.4%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 C A 13: 70,984,337 (GRCm39) D109Y possibly damaging Het
Armc8 T A 9: 99,379,447 (GRCm39) probably null Het
Atg4b G T 1: 93,701,519 (GRCm39) G71V probably damaging Het
Atp10b A T 11: 43,042,601 (GRCm39) M54L probably benign Het
Baiap2l1 A G 5: 144,223,112 (GRCm39) L75P probably damaging Het
Bnc2 A C 4: 84,210,908 (GRCm39) L487R probably damaging Het
Cacng7 T C 7: 3,387,539 (GRCm39) S141P probably benign Het
Carmil2 G A 8: 106,424,663 (GRCm39) G1361D probably damaging Het
Cenpf T C 1: 189,386,560 (GRCm39) I1907V probably benign Het
Cep192 T C 18: 68,013,866 (GRCm39) V2422A probably benign Het
Cfap73 T A 5: 120,770,671 (GRCm39) Q33L probably benign Het
Cip2a T A 16: 48,837,856 (GRCm39) probably null Het
Cmtm2a A T 8: 105,019,418 (GRCm39) I57N probably damaging Het
Col6a2 T A 10: 76,435,727 (GRCm39) D836V probably benign Het
Dnah2 A G 11: 69,321,643 (GRCm39) V3839A possibly damaging Het
Eps8l2 A G 7: 140,940,290 (GRCm39) T507A probably damaging Het
Erg28 C T 12: 85,862,926 (GRCm39) E129K probably benign Het
Erlec1 A T 11: 30,900,591 (GRCm39) N153K probably benign Het
Fam234a T C 17: 26,432,679 (GRCm39) E490G probably damaging Het
Fat4 C T 3: 39,003,725 (GRCm39) R1815C probably damaging Het
Galnt1 T G 18: 24,397,577 (GRCm39) I226S possibly damaging Het
Ifnl2 T A 7: 28,209,614 (GRCm39) I58F possibly damaging Het
Itih5 A G 2: 10,245,572 (GRCm39) N554D probably benign Het
Kcna10 A G 3: 107,102,394 (GRCm39) I342V probably benign Het
Kif6 G A 17: 50,139,210 (GRCm39) E561K probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lpar2 G T 8: 70,276,385 (GRCm39) R58L probably damaging Het
Macrod2 A G 2: 140,260,809 (GRCm39) T27A possibly damaging Het
Mfsd2a A T 4: 122,843,120 (GRCm39) V387D probably damaging Het
Npas3 A T 12: 54,050,262 (GRCm39) T231S probably benign Het
Or4a70 A T 2: 89,323,812 (GRCm39) N281K probably damaging Het
Or52n5 A T 7: 104,587,966 (GRCm39) T78S probably benign Het
Or5aq1b A T 2: 86,901,756 (GRCm39) C241S probably damaging Het
Or8h10 A G 2: 86,809,044 (GRCm39) V32A probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde10a A T 17: 9,160,024 (GRCm39) I432F probably damaging Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Pomt1 G A 2: 32,133,517 (GRCm39) G218R probably damaging Het
Potefam1 A T 2: 111,055,837 (GRCm39) L183* probably null Het
Pramel22 A T 4: 143,381,205 (GRCm39) C273S probably damaging Het
Prdm5 C T 6: 65,904,974 (GRCm39) T157I possibly damaging Het
Psen2 T A 1: 180,068,491 (GRCm39) E54V probably benign Het
Ptpn13 C A 5: 103,702,686 (GRCm39) H1217Q probably benign Het
Ptprt A G 2: 161,376,484 (GRCm39) S1306P probably damaging Het
Ptpru G T 4: 131,565,401 (GRCm39) P23T probably benign Het
Rtn3 T C 19: 7,434,057 (GRCm39) E626G probably damaging Het
Scn3a A T 2: 65,312,622 (GRCm39) M1191K probably damaging Het
Scn3a T A 2: 65,314,803 (GRCm39) N1086I probably benign Het
Sgms2 A T 3: 131,129,866 (GRCm39) M174K probably damaging Het
Skor1 T A 9: 63,053,346 (GRCm39) I180F probably damaging Het
Slit2 T G 5: 48,416,958 (GRCm39) C1003W probably damaging Het
Tbc1d2b T A 9: 90,104,462 (GRCm39) Q560L possibly damaging Het
Themis A G 10: 28,598,530 (GRCm39) I51V probably benign Het
Tmem203 T C 2: 25,146,085 (GRCm39) V135A probably benign Het
Tns1 T C 1: 73,967,138 (GRCm39) T1212A probably benign Het
Trgv5 T G 13: 19,376,695 (GRCm39) H47Q probably benign Het
Trim2 G A 3: 84,075,029 (GRCm39) A697V probably damaging Het
Ubxn4 T C 1: 128,186,677 (GRCm39) S37P possibly damaging Het
Vmn2r17 A G 5: 109,600,716 (GRCm39) I671M possibly damaging Het
Vmn2r94 G T 17: 18,464,066 (GRCm39) S741R probably damaging Het
Vwce C A 19: 10,624,431 (GRCm39) D414E probably benign Het
Zfp397 T C 18: 24,093,249 (GRCm39) S245P possibly damaging Het
Zfp747l1 G T 7: 126,984,579 (GRCm39) H174Q possibly damaging Het
Zfp809 T A 9: 22,150,227 (GRCm39) Y241* probably null Het
Zfp995 C T 17: 22,101,010 (GRCm39) C29Y probably benign Het
Zfta A G 19: 7,400,161 (GRCm39) E209G probably benign Het
Zfyve26 T C 12: 79,320,147 (GRCm39) D1066G 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
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
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
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
Predicted Primers PCR Primer
(F):5'- ACATGAGTGCTGGTGACAAC -3'
(R):5'- GCATGGTGGTTCCCTTCTTAGC -3'

Sequencing Primer
(F):5'- TGCTGGTGACAACAGAAGCC -3'
(R):5'- TAGACATCACTATACATAGGTGTGC -3'
Posted On 2017-01-03