Incidental Mutation 'R8301:Enpp2'
ID 639287
Institutional Source Beutler Lab
Gene Symbol Enpp2
Ensembl Gene ENSMUSG00000022425
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 2
Synonyms Pdnp2, Npps2, PD-Ialpha, ATX, Autotaxin
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 54838901-54952892 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54851407 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 598 (F598S)
Ref Sequence ENSEMBL: ENSMUSP00000132640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041591] [ENSMUST00000167541] [ENSMUST00000171545] [ENSMUST00000173516]
AlphaFold Q9R1E6
Predicted Effect probably benign
Transcript: ENSMUST00000041591
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425

DomainStartEndE-ValueType
SO 54 97 4.79e-16 SMART
SO 98 141 2.95e-16 SMART
Pfam:Phosphodiest 165 285 4.7e-41 PFAM
Pfam:Phosphodiest 278 477 3.3e-40 PFAM
Endonuclease_NS 613 844 3.93e-36 SMART
NUC 614 844 1.32e-109 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167541
AA Change: F598S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: F598S

DomainStartEndE-ValueType
SO 54 97 4.79e-16 SMART
SO 98 141 2.95e-16 SMART
Pfam:Phosphodiest 165 284 5.4e-41 PFAM
Pfam:Phosphodiest 278 477 3.4e-40 PFAM
Endonuclease_NS 638 869 3.93e-36 SMART
NUC 639 869 1.32e-109 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171545
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425

DomainStartEndE-ValueType
SO 54 97 4.79e-16 SMART
SO 98 141 2.95e-16 SMART
Pfam:Phosphodiest 165 283 2.8e-43 PFAM
Pfam:Phosphodiest 275 529 2.8e-36 PFAM
Endonuclease_NS 665 896 3.93e-36 SMART
NUC 666 896 1.32e-109 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173516
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425

DomainStartEndE-ValueType
SO 54 97 4.79e-16 SMART
SO 98 141 2.95e-16 SMART
Pfam:Phosphodiest 165 285 2.8e-41 PFAM
Pfam:Phosphodiest 276 529 7.8e-36 PFAM
Endonuclease_NS 661 892 3.93e-36 SMART
NUC 662 892 1.32e-109 SMART
Meta Mutation Damage Score 0.0659 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: This gene encodes a member of the phosphodiesterase and nucleotide pyrophosphatase family of bifunctional enzymes that hydrolize phosphodiester bonds of various nucleotides. The encoded protein undergoes proteolytic processing to generate a mature protein with lysophospholipase D activity, catalyzing the cleavage of the choline group from lysophosphatidylcholine to produce lysophosphatidic acid. This gene is expressed in numerous tissues and participates in neural development, obesity, inflammation and oncogenesis. A complete lack of the encoded protein in mice results in aberrant vascular and neuronal development leading to embryonic lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 87,972,505 (GRCm38) I374F probably benign Het
Ak9 G A 10: 41,424,716 (GRCm38) V1108I Het
Aldh16a1 C T 7: 45,141,982 (GRCm38) A790T possibly damaging Het
Anks1 A T 17: 28,059,580 (GRCm38) probably benign Het
Antxr2 T G 5: 97,977,679 (GRCm38) T240P probably benign Het
Arfgef1 A T 1: 10,179,833 (GRCm38) M945K probably damaging Het
Arhgef17 T C 7: 100,879,659 (GRCm38) T1591A probably benign Het
Aurka A G 2: 172,356,930 (GRCm38) S374P probably damaging Het
Bccip T C 7: 133,719,204 (GRCm38) S236P probably benign Het
Cacna1s T A 1: 136,073,441 (GRCm38) probably benign Het
Calm1 A G 12: 100,205,685 (GRCm38) E132G probably benign Het
Casz1 A G 4: 148,946,043 (GRCm38) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm38) D413G probably damaging Het
Cfap57 A G 4: 118,593,074 (GRCm38) I617T possibly damaging Het
Creb5 A G 6: 53,681,033 (GRCm38) D116G possibly damaging Het
Csnka2ip A C 16: 64,478,991 (GRCm38) S337A unknown Het
Ddx60 A G 8: 62,000,597 (GRCm38) E1250G probably benign Het
Dlgap2 T A 8: 14,823,577 (GRCm38) S727T probably benign Het
Dpy19l1 T C 9: 24,485,111 (GRCm38) probably benign Het
Ebf2 A G 14: 67,238,982 (GRCm38) T134A possibly damaging Het
Echdc2 A T 4: 108,172,909 (GRCm38) M136L probably benign Het
Extl3 A C 14: 65,076,284 (GRCm38) L483R probably damaging Het
Gcat T C 15: 79,035,889 (GRCm38) V227A possibly damaging Het
Hsf2 A G 10: 57,505,346 (GRCm38) D344G probably damaging Het
Ighm C T 12: 113,421,545 (GRCm38) G265D Het
Igsf9b T G 9: 27,334,739 (GRCm38) probably benign Het
Ints6 A G 14: 62,702,453 (GRCm38) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm38) E182G probably damaging Het
Iqgap2 A G 13: 95,682,151 (GRCm38) probably null Het
Kalrn G T 16: 34,357,100 (GRCm38) Q250K probably benign Het
Lrrc1 T A 9: 77,544,488 (GRCm38) N46Y probably damaging Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Naa50 A G 16: 44,157,131 (GRCm38) N74S probably benign Het
Neb T C 2: 52,288,835 (GRCm38) N1303S probably benign Het
Nfs1 A T 2: 156,134,493 (GRCm38) C160* probably null Het
Olfr472 A G 7: 107,903,626 (GRCm38) K303R probably benign Het
Olfr591 T G 7: 103,173,073 (GRCm38) K188T probably damaging Het
Olfr740 T A 14: 50,453,564 (GRCm38) S171T probably benign Het
Olfr809 T C 10: 129,776,840 (GRCm38) S309P probably benign Het
Orm2 T C 4: 63,363,026 (GRCm38) F67S possibly damaging Het
Pex5 A G 6: 124,405,183 (GRCm38) S180P probably benign Het
Phf14 G C 6: 11,992,062 (GRCm38) G746R probably damaging Het
Pkm T A 9: 59,668,631 (GRCm38) V110E probably damaging Het
Plekha6 T G 1: 133,264,687 (GRCm38) N78K probably damaging Het
Plxna2 G A 1: 194,790,175 (GRCm38) V1076I probably benign Het
Polq C A 16: 37,061,819 (GRCm38) D1448E probably damaging Het
Pot1b T C 17: 55,687,895 (GRCm38) T256A probably benign Het
Prkch C T 12: 73,702,764 (GRCm38) T377I possibly damaging Het
Prl3c1 A C 13: 27,199,185 (GRCm38) probably benign Het
Prl7b1 A C 13: 27,602,772 (GRCm38) V158G possibly damaging Het
Prss22 T C 17: 23,993,981 (GRCm38) S261G probably damaging Het
Psd T C 19: 46,321,102 (GRCm38) probably benign Het
Psg18 A T 7: 18,353,377 (GRCm38) Y119N probably damaging Het
Rbm6 T G 9: 107,852,794 (GRCm38) R218S probably damaging Het
Rnf213 T A 11: 119,434,742 (GRCm38) S1491T Het
Rsf1 T C 7: 97,661,925 (GRCm38) S621P Het
Runx1 C A 16: 92,605,656 (GRCm38) *466L probably null Het
Samd4 A G 14: 47,016,678 (GRCm38) I200V probably benign Het
Sdsl C T 5: 120,459,519 (GRCm38) C241Y probably benign Het
Selenon T C 4: 134,551,414 (GRCm38) probably benign Het
Setx C T 2: 29,145,690 (GRCm38) P729L possibly damaging Het
Sf1 C T 19: 6,368,366 (GRCm38) Q55* probably null Het
Slc12a5 A T 2: 164,993,691 (GRCm38) N833I probably damaging Het
Slc1a4 T C 11: 20,332,286 (GRCm38) R63G probably damaging Het
Tmeff2 G T 1: 51,181,837 (GRCm38) A324S probably benign Het
Tmem217 A G 17: 29,526,492 (GRCm38) I88T possibly damaging Het
Tnfsf8 A T 4: 63,860,878 (GRCm38) I61N probably benign Het
Tpbgl G T 7: 99,625,567 (GRCm38) A361E probably damaging Het
Trhde T A 10: 114,487,006 (GRCm38) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm38) T1598A probably benign Het
Vmn2r73 A T 7: 85,858,302 (GRCm38) C601S probably benign Het
Zfp873 C A 10: 82,060,879 (GRCm38) H481Q probably damaging Het
Other mutations in Enpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Enpp2 APN 15 54,875,650 (GRCm38) critical splice donor site probably null
IGL01290:Enpp2 APN 15 54,919,602 (GRCm38) missense possibly damaging 0.79
IGL01296:Enpp2 APN 15 54,875,669 (GRCm38) missense probably damaging 1.00
IGL01650:Enpp2 APN 15 54,919,933 (GRCm38) missense probably benign
IGL02470:Enpp2 APN 15 54,839,460 (GRCm38) missense probably damaging 1.00
IGL02522:Enpp2 APN 15 54,898,940 (GRCm38) missense probably damaging 0.99
IGL02727:Enpp2 APN 15 54,910,181 (GRCm38) missense probably damaging 1.00
IGL03178:Enpp2 APN 15 54,866,006 (GRCm38) missense probably benign
G1Funyon:Enpp2 UTSW 15 54,851,407 (GRCm38) missense probably benign
IGL03055:Enpp2 UTSW 15 54,866,085 (GRCm38) splice site probably null
PIT4260001:Enpp2 UTSW 15 54,844,378 (GRCm38) critical splice donor site probably null
R0302:Enpp2 UTSW 15 54,860,061 (GRCm38) missense probably benign 0.15
R0304:Enpp2 UTSW 15 54,877,806 (GRCm38) missense probably benign 0.07
R0385:Enpp2 UTSW 15 54,882,159 (GRCm38) missense probably damaging 1.00
R0440:Enpp2 UTSW 15 54,847,237 (GRCm38) splice site probably benign
R0696:Enpp2 UTSW 15 54,897,696 (GRCm38) nonsense probably null
R0879:Enpp2 UTSW 15 54,877,930 (GRCm38) missense probably damaging 0.98
R0924:Enpp2 UTSW 15 54,906,959 (GRCm38) splice site probably benign
R0989:Enpp2 UTSW 15 54,875,759 (GRCm38) missense possibly damaging 0.88
R1126:Enpp2 UTSW 15 54,906,826 (GRCm38) critical splice donor site probably null
R1434:Enpp2 UTSW 15 54,862,681 (GRCm38) missense probably damaging 1.00
R1447:Enpp2 UTSW 15 54,919,598 (GRCm38) critical splice donor site probably null
R1464:Enpp2 UTSW 15 54,863,812 (GRCm38) missense probably damaging 1.00
R1464:Enpp2 UTSW 15 54,863,812 (GRCm38) missense probably damaging 1.00
R1501:Enpp2 UTSW 15 54,839,514 (GRCm38) missense probably damaging 1.00
R1546:Enpp2 UTSW 15 54,845,829 (GRCm38) missense probably benign 0.01
R1673:Enpp2 UTSW 15 54,910,196 (GRCm38) splice site probably null
R1853:Enpp2 UTSW 15 54,845,823 (GRCm38) missense probably damaging 1.00
R1854:Enpp2 UTSW 15 54,845,823 (GRCm38) missense probably damaging 1.00
R1855:Enpp2 UTSW 15 54,845,823 (GRCm38) missense probably damaging 1.00
R1969:Enpp2 UTSW 15 54,882,982 (GRCm38) missense probably damaging 1.00
R1970:Enpp2 UTSW 15 54,882,982 (GRCm38) missense probably damaging 1.00
R2060:Enpp2 UTSW 15 54,875,714 (GRCm38) missense probably damaging 1.00
R2122:Enpp2 UTSW 15 54,897,792 (GRCm38) nonsense probably null
R2275:Enpp2 UTSW 15 54,897,794 (GRCm38) missense probably damaging 1.00
R2517:Enpp2 UTSW 15 54,919,694 (GRCm38) missense probably damaging 0.99
R3881:Enpp2 UTSW 15 54,919,692 (GRCm38) missense probably damaging 1.00
R3934:Enpp2 UTSW 15 54,845,921 (GRCm38) missense probably benign 0.03
R4722:Enpp2 UTSW 15 54,887,589 (GRCm38) missense probably damaging 0.99
R4765:Enpp2 UTSW 15 54,875,672 (GRCm38) missense possibly damaging 0.91
R4799:Enpp2 UTSW 15 54,910,094 (GRCm38) missense probably damaging 1.00
R4934:Enpp2 UTSW 15 54,882,147 (GRCm38) missense probably damaging 1.00
R4976:Enpp2 UTSW 15 54,870,305 (GRCm38) nonsense probably null
R5068:Enpp2 UTSW 15 54,864,054 (GRCm38) missense probably damaging 1.00
R5069:Enpp2 UTSW 15 54,864,054 (GRCm38) missense probably damaging 1.00
R5070:Enpp2 UTSW 15 54,864,054 (GRCm38) missense probably damaging 1.00
R5119:Enpp2 UTSW 15 54,870,305 (GRCm38) nonsense probably null
R5134:Enpp2 UTSW 15 54,899,330 (GRCm38) missense probably damaging 1.00
R5162:Enpp2 UTSW 15 54,847,296 (GRCm38) missense probably benign 0.06
R5218:Enpp2 UTSW 15 54,887,586 (GRCm38) missense possibly damaging 0.86
R5415:Enpp2 UTSW 15 54,882,156 (GRCm38) missense probably damaging 1.00
R5965:Enpp2 UTSW 15 54,882,971 (GRCm38) critical splice donor site probably null
R6086:Enpp2 UTSW 15 54,845,834 (GRCm38) missense probably damaging 1.00
R6229:Enpp2 UTSW 15 54,877,832 (GRCm38) missense probably damaging 1.00
R6306:Enpp2 UTSW 15 54,899,346 (GRCm38) missense probably damaging 1.00
R6314:Enpp2 UTSW 15 54,865,970 (GRCm38) missense probably damaging 0.99
R6403:Enpp2 UTSW 15 54,863,764 (GRCm38) missense probably damaging 1.00
R6515:Enpp2 UTSW 15 54,860,093 (GRCm38) missense possibly damaging 0.75
R6525:Enpp2 UTSW 15 54,870,211 (GRCm38) missense probably benign 0.01
R6536:Enpp2 UTSW 15 54,862,631 (GRCm38) missense probably damaging 1.00
R7070:Enpp2 UTSW 15 54,899,289 (GRCm38) missense probably damaging 1.00
R7077:Enpp2 UTSW 15 54,901,391 (GRCm38) missense probably benign 0.36
R7265:Enpp2 UTSW 15 54,910,033 (GRCm38) critical splice donor site probably null
R7324:Enpp2 UTSW 15 54,877,774 (GRCm38) critical splice donor site probably null
R7331:Enpp2 UTSW 15 54,875,670 (GRCm38) missense probably damaging 1.00
R7452:Enpp2 UTSW 15 54,866,736 (GRCm38) missense probably damaging 0.99
R7494:Enpp2 UTSW 15 54,910,158 (GRCm38) missense probably damaging 1.00
R7557:Enpp2 UTSW 15 54,910,140 (GRCm38) missense probably damaging 1.00
R7574:Enpp2 UTSW 15 54,851,417 (GRCm38) missense probably benign
R7665:Enpp2 UTSW 15 54,839,394 (GRCm38) missense probably damaging 0.98
R7744:Enpp2 UTSW 15 54,901,233 (GRCm38) splice site probably null
R7940:Enpp2 UTSW 15 54,906,928 (GRCm38) missense probably damaging 1.00
R7942:Enpp2 UTSW 15 54,845,879 (GRCm38) missense probably damaging 1.00
R7951:Enpp2 UTSW 15 54,919,693 (GRCm38) missense probably benign 0.00
R8069:Enpp2 UTSW 15 54,847,301 (GRCm38) missense probably damaging 0.96
R8376:Enpp2 UTSW 15 54,910,095 (GRCm38) missense probably damaging 1.00
R8916:Enpp2 UTSW 15 54,870,326 (GRCm38) missense possibly damaging 0.75
R9275:Enpp2 UTSW 15 54,850,088 (GRCm38) missense probably benign 0.21
R9304:Enpp2 UTSW 15 54,952,573 (GRCm38) missense probably damaging 1.00
R9377:Enpp2 UTSW 15 54,875,684 (GRCm38) missense probably damaging 1.00
R9674:Enpp2 UTSW 15 54,952,739 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- GCCCCTAAGAATCAAAATGTGC -3'
(R):5'- ACAGGCTTCAGTATGAGTCTGG -3'

Sequencing Primer
(F):5'- CCTAAGAATCAAAATGTGCCATAATG -3'
(R):5'- CATTATCAACATCCTGGGGAGTG -3'
Posted On 2020-07-28