Incidental Mutation 'R5068:Enpp2'
ID 388496
Institutional Source Beutler Lab
Gene Symbol Enpp2
Ensembl Gene ENSMUSG00000022425
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 2
Synonyms Pdnp2, PD-Ialpha, Autotaxin, Npps2, ATX
MMRRC Submission 042658-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5068 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 54702297-54816284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54727450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 513 (Y513C)
Ref Sequence ENSEMBL: ENSMUSP00000128941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041591] [ENSMUST00000167541] [ENSMUST00000171545] [ENSMUST00000173516]
AlphaFold Q9R1E6
PDB Structure Crystal structure of mouse autotaxin [X-RAY DIFFRACTION]
Crystal structure of mouse autotaxin in complex with 14:0-LPA [X-RAY DIFFRACTION]
Crystal structure of mouse autotaxin in complex with 16:0-LPA [X-RAY DIFFRACTION]
Crystal structure of mouse autotaxin in complex with 18:1-LPA [X-RAY DIFFRACTION]
Crystal structure of mouse autotaxin in complex with 18:3-LPA [X-RAY DIFFRACTION]
Crystal structure of mouse autotaxin in complex with 22:6-LPA [X-RAY DIFFRACTION]
Crystal Structure of Autotaxin in Complex with Compound 10 [X-RAY DIFFRACTION]
Crystal Structure of Autotaxin in Complex with 2BoA [X-RAY DIFFRACTION]
Crystal Structure of Autotaxin in Complex with 3BoA [X-RAY DIFFRACTION]
Crystal Structure of Autotaxin in Complex with 4BoA [X-RAY DIFFRACTION]
>> 4 additional structures at PDB <<
Predicted Effect possibly damaging
Transcript: ENSMUST00000041591
AA Change: Y461C

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: Y461C

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 damaging
Transcript: ENSMUST00000167541
AA Change: Y461C

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: Y461C

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 damaging
Transcript: ENSMUST00000171545
AA Change: Y513C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: Y513C

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 damaging
Transcript: ENSMUST00000173516
AA Change: Y513C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: Y513C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228823
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,749 (GRCm39) S739P possibly damaging Het
6030468B19Rik A G 11: 117,693,701 (GRCm39) Y56C possibly damaging Het
Actn2 A G 13: 12,303,408 (GRCm39) I464T possibly damaging Het
Add2 T A 6: 86,084,440 (GRCm39) L496Q probably damaging Het
Akt1s1 T C 7: 44,499,432 (GRCm39) probably null Het
Als2 G T 1: 59,250,433 (GRCm39) P437Q probably benign Het
Ankar T C 1: 72,719,369 (GRCm39) probably null Het
Ankrd17 T C 5: 90,402,667 (GRCm39) R1464G probably damaging Het
Ankrd24 T C 10: 81,475,699 (GRCm39) S121P possibly damaging Het
Arvcf A G 16: 18,217,736 (GRCm39) Y412C probably damaging Het
Birc6 C T 17: 74,872,967 (GRCm39) R409C probably damaging Het
Bnip3l T C 14: 67,237,081 (GRCm39) E57G possibly damaging Het
Calcoco1 A G 15: 102,619,527 (GRCm39) L354P probably damaging Het
Cc2d1b T C 4: 108,480,661 (GRCm39) V27A possibly damaging Het
Cdc37 T C 9: 21,061,099 (GRCm39) T19A probably damaging Het
Cep152 T C 2: 125,413,736 (GRCm39) I1199V probably benign Het
Chd6 G T 2: 160,808,289 (GRCm39) L1642I possibly damaging Het
Chst13 T C 6: 90,286,551 (GRCm39) E137G possibly damaging Het
Cnrip1 A G 11: 17,004,687 (GRCm39) D79G probably damaging Het
Dars2 A T 1: 160,869,483 (GRCm39) C589S probably benign Het
Dhx15 T G 5: 52,327,409 (GRCm39) I102L possibly damaging Het
Dip2a A G 10: 76,153,877 (GRCm39) L151P possibly damaging Het
Dlc1 T C 8: 37,405,184 (GRCm39) T202A probably benign Het
Dlg1 G T 16: 31,503,113 (GRCm39) probably null Het
Dlgap4 T C 2: 156,549,031 (GRCm39) F464L probably benign Het
Dnah3 T C 7: 119,632,013 (GRCm39) H1314R probably benign Het
Dsp A C 13: 38,381,099 (GRCm39) T2615P possibly damaging Het
Dthd1 C A 5: 62,976,059 (GRCm39) D244E probably benign Het
Dtl A T 1: 191,300,485 (GRCm39) D126E probably damaging Het
Ell2 A G 13: 75,911,737 (GRCm39) N341S probably benign Het
Erbb4 A T 1: 68,083,061 (GRCm39) probably null Het
Erc2 A T 14: 28,024,900 (GRCm39) H593L possibly damaging Het
Ercc6 T C 14: 32,292,020 (GRCm39) V1128A probably benign Het
Fyn A G 10: 39,402,839 (GRCm39) K204E probably damaging Het
Gm4847 A T 1: 166,465,953 (GRCm39) F212Y possibly damaging Het
Gpc5 T C 14: 115,654,676 (GRCm39) *499R probably null Het
Hcn4 T C 9: 58,767,304 (GRCm39) L955P unknown Het
Hook2 C A 8: 85,720,028 (GRCm39) L111I possibly damaging Het
Hook3 C T 8: 26,585,785 (GRCm39) probably null Het
Hvcn1 T C 5: 122,371,544 (GRCm39) F28S probably damaging Het
Igkv6-32 A G 6: 70,051,267 (GRCm39) F30L possibly damaging Het
Inpp5b G A 4: 124,636,442 (GRCm39) probably null Het
Itgb2 G A 10: 77,384,595 (GRCm39) A239T probably damaging Het
Kcnrg T C 14: 61,845,266 (GRCm39) L102P probably damaging Het
Kif16b A T 2: 142,553,627 (GRCm39) M1068K probably benign Het
Kifc3 T C 8: 95,836,844 (GRCm39) R109G possibly damaging Het
Klhl28 A T 12: 65,004,486 (GRCm39) M9K probably benign Het
Kptn T C 7: 15,857,027 (GRCm39) Y172H probably damaging Het
Mib1 A G 18: 10,793,002 (GRCm39) E646G probably damaging Het
Mmp14 T A 14: 54,676,570 (GRCm39) Y372N probably damaging Het
Mrc1 T A 2: 14,311,327 (GRCm39) M868K probably benign Het
Mterf1a T C 5: 3,941,854 (GRCm39) N5D probably benign Het
Muc5b T C 7: 141,412,345 (GRCm39) S1764P unknown Het
Myo9b T C 8: 71,801,699 (GRCm39) Y1275H probably damaging Het
Nek1 T C 8: 61,469,330 (GRCm39) I129T probably damaging Het
Net1 G A 13: 3,936,740 (GRCm39) A221V probably benign Het
Nuak2 A T 1: 132,259,509 (GRCm39) D429V probably benign Het
Nup98 T C 7: 101,794,862 (GRCm39) T882A probably benign Het
Or11g2 T A 14: 50,856,197 (GRCm39) C173S probably damaging Het
Or11h4 C A 14: 50,974,531 (GRCm39) L29F probably benign Het
Or52ab4 A T 7: 102,987,229 (GRCm39) probably null Het
Or52h1 T A 7: 103,829,448 (GRCm39) S56C probably damaging Het
Or8b42 T C 9: 38,341,760 (GRCm39) Y61H probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh7 T C 5: 57,879,508 (GRCm39) V1021A probably damaging Het
Pclo G C 5: 14,729,087 (GRCm39) probably benign Het
Pds5a A C 5: 65,772,615 (GRCm39) D1329E probably damaging Het
Pex5 A G 6: 124,390,555 (GRCm39) S97P probably benign Het
Pias3 A G 3: 96,611,171 (GRCm39) K431E probably damaging Het
Piwil1 T C 5: 128,818,678 (GRCm39) S158P probably damaging Het
Plxnc1 A T 10: 94,635,239 (GRCm39) I1329N possibly damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Pnpla1 T A 17: 29,098,397 (GRCm39) probably null Het
Prdm10 T C 9: 31,270,343 (GRCm39) Y827H probably damaging Het
Prss3b A C 6: 41,009,370 (GRCm39) Y155D probably benign Het
Psma2 G A 13: 14,790,613 (GRCm39) V20I probably benign Het
Pwwp4a T C X: 72,171,577 (GRCm39) I323T probably damaging Het
Rgl3 A G 9: 21,899,340 (GRCm39) probably null Het
Rnf17 T C 14: 56,743,385 (GRCm39) V1317A probably damaging Het
Rpp40 T C 13: 36,082,681 (GRCm39) N254D probably benign Het
Scin T A 12: 40,174,699 (GRCm39) H128L probably damaging Het
Sh3bp2 A T 5: 34,714,311 (GRCm39) M225L probably benign Het
Shisa9 C A 16: 12,085,412 (GRCm39) H324Q possibly damaging Het
Sipa1l1 A G 12: 82,484,601 (GRCm39) D1585G probably damaging Het
Slc11a1 G A 1: 74,424,343 (GRCm39) A434T probably damaging Het
Slc5a8 A T 10: 88,722,460 (GRCm39) I98F possibly damaging Het
Slc6a13 T C 6: 121,310,301 (GRCm39) L320P probably damaging Het
Spats2l A G 1: 57,982,380 (GRCm39) T421A probably benign Het
Spryd3 A T 15: 102,037,046 (GRCm39) D207E probably benign Het
Srrt T C 5: 137,294,803 (GRCm39) N392S possibly damaging Het
Stk36 G T 1: 74,661,504 (GRCm39) R510S probably benign Het
Sucnr1 A G 3: 59,994,288 (GRCm39) Y272C probably damaging Het
Taar7b T G 10: 23,876,359 (GRCm39) S175A probably benign Het
Tmem131 A G 1: 36,893,986 (GRCm39) I139T probably damaging Het
Tph2 T A 10: 114,987,079 (GRCm39) Y237F probably benign Het
Trim35 C T 14: 66,546,421 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,655,750 (GRCm39) I661T probably benign Het
Ttc27 T A 17: 75,106,337 (GRCm39) H541Q probably damaging Het
Uap1 G T 1: 169,989,032 (GRCm39) P130Q probably damaging Het
Ube3c T C 5: 29,806,352 (GRCm39) probably null Het
Umad1 A T 6: 8,401,157 (GRCm39) probably null Het
Usp34 T C 11: 23,410,665 (GRCm39) V2705A possibly damaging Het
Vps13a T C 19: 16,723,422 (GRCm39) S259G probably benign Het
Vwa7 G A 17: 35,243,166 (GRCm39) V615I probably benign Het
Wdfy3 T C 5: 102,042,803 (GRCm39) T1983A probably benign Het
Wdr24 T G 17: 26,044,753 (GRCm39) F203V possibly damaging Het
Xlr4c T A X: 72,282,290 (GRCm39) K121M probably damaging Het
Zfc3h1 T A 10: 115,254,688 (GRCm39) C1427* probably null Het
Zfp282 A C 6: 47,854,637 (GRCm39) Q11P probably benign Het
Zfp750 T A 11: 121,403,021 (GRCm39) T576S probably benign Het
Other mutations in Enpp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Enpp2 APN 15 54,739,046 (GRCm39) critical splice donor site probably null
IGL01290:Enpp2 APN 15 54,782,998 (GRCm39) missense possibly damaging 0.79
IGL01296:Enpp2 APN 15 54,739,065 (GRCm39) missense probably damaging 1.00
IGL01650:Enpp2 APN 15 54,783,329 (GRCm39) missense probably benign
IGL02470:Enpp2 APN 15 54,702,856 (GRCm39) missense probably damaging 1.00
IGL02522:Enpp2 APN 15 54,762,336 (GRCm39) missense probably damaging 0.99
IGL02727:Enpp2 APN 15 54,773,577 (GRCm39) missense probably damaging 1.00
IGL03178:Enpp2 APN 15 54,729,402 (GRCm39) missense probably benign
G1Funyon:Enpp2 UTSW 15 54,714,803 (GRCm39) missense probably benign
IGL03055:Enpp2 UTSW 15 54,729,481 (GRCm39) splice site probably null
PIT4260001:Enpp2 UTSW 15 54,707,774 (GRCm39) critical splice donor site probably null
R0302:Enpp2 UTSW 15 54,723,457 (GRCm39) missense probably benign 0.15
R0304:Enpp2 UTSW 15 54,741,202 (GRCm39) missense probably benign 0.07
R0385:Enpp2 UTSW 15 54,745,555 (GRCm39) missense probably damaging 1.00
R0440:Enpp2 UTSW 15 54,710,633 (GRCm39) splice site probably benign
R0696:Enpp2 UTSW 15 54,761,092 (GRCm39) nonsense probably null
R0879:Enpp2 UTSW 15 54,741,326 (GRCm39) missense probably damaging 0.98
R0924:Enpp2 UTSW 15 54,770,355 (GRCm39) splice site probably benign
R0989:Enpp2 UTSW 15 54,739,155 (GRCm39) missense possibly damaging 0.88
R1126:Enpp2 UTSW 15 54,770,222 (GRCm39) critical splice donor site probably null
R1434:Enpp2 UTSW 15 54,726,077 (GRCm39) missense probably damaging 1.00
R1447:Enpp2 UTSW 15 54,782,994 (GRCm39) critical splice donor site probably null
R1464:Enpp2 UTSW 15 54,727,208 (GRCm39) missense probably damaging 1.00
R1464:Enpp2 UTSW 15 54,727,208 (GRCm39) missense probably damaging 1.00
R1501:Enpp2 UTSW 15 54,702,910 (GRCm39) missense probably damaging 1.00
R1546:Enpp2 UTSW 15 54,709,225 (GRCm39) missense probably benign 0.01
R1673:Enpp2 UTSW 15 54,773,592 (GRCm39) splice site probably null
R1853:Enpp2 UTSW 15 54,709,219 (GRCm39) missense probably damaging 1.00
R1854:Enpp2 UTSW 15 54,709,219 (GRCm39) missense probably damaging 1.00
R1855:Enpp2 UTSW 15 54,709,219 (GRCm39) missense probably damaging 1.00
R1969:Enpp2 UTSW 15 54,746,378 (GRCm39) missense probably damaging 1.00
R1970:Enpp2 UTSW 15 54,746,378 (GRCm39) missense probably damaging 1.00
R2060:Enpp2 UTSW 15 54,739,110 (GRCm39) missense probably damaging 1.00
R2122:Enpp2 UTSW 15 54,761,188 (GRCm39) nonsense probably null
R2275:Enpp2 UTSW 15 54,761,190 (GRCm39) missense probably damaging 1.00
R2517:Enpp2 UTSW 15 54,783,090 (GRCm39) missense probably damaging 0.99
R3881:Enpp2 UTSW 15 54,783,088 (GRCm39) missense probably damaging 1.00
R3934:Enpp2 UTSW 15 54,709,317 (GRCm39) missense probably benign 0.03
R4722:Enpp2 UTSW 15 54,750,985 (GRCm39) missense probably damaging 0.99
R4765:Enpp2 UTSW 15 54,739,068 (GRCm39) missense possibly damaging 0.91
R4799:Enpp2 UTSW 15 54,773,490 (GRCm39) missense probably damaging 1.00
R4934:Enpp2 UTSW 15 54,745,543 (GRCm39) missense probably damaging 1.00
R4976:Enpp2 UTSW 15 54,733,701 (GRCm39) nonsense probably null
R5069:Enpp2 UTSW 15 54,727,450 (GRCm39) missense probably damaging 1.00
R5070:Enpp2 UTSW 15 54,727,450 (GRCm39) missense probably damaging 1.00
R5119:Enpp2 UTSW 15 54,733,701 (GRCm39) nonsense probably null
R5134:Enpp2 UTSW 15 54,762,726 (GRCm39) missense probably damaging 1.00
R5162:Enpp2 UTSW 15 54,710,692 (GRCm39) missense probably benign 0.06
R5218:Enpp2 UTSW 15 54,750,982 (GRCm39) missense possibly damaging 0.86
R5415:Enpp2 UTSW 15 54,745,552 (GRCm39) missense probably damaging 1.00
R5965:Enpp2 UTSW 15 54,746,367 (GRCm39) critical splice donor site probably null
R6086:Enpp2 UTSW 15 54,709,230 (GRCm39) missense probably damaging 1.00
R6229:Enpp2 UTSW 15 54,741,228 (GRCm39) missense probably damaging 1.00
R6306:Enpp2 UTSW 15 54,762,742 (GRCm39) missense probably damaging 1.00
R6314:Enpp2 UTSW 15 54,729,366 (GRCm39) missense probably damaging 0.99
R6403:Enpp2 UTSW 15 54,727,160 (GRCm39) missense probably damaging 1.00
R6515:Enpp2 UTSW 15 54,723,489 (GRCm39) missense possibly damaging 0.75
R6525:Enpp2 UTSW 15 54,733,607 (GRCm39) missense probably benign 0.01
R6536:Enpp2 UTSW 15 54,726,027 (GRCm39) missense probably damaging 1.00
R7070:Enpp2 UTSW 15 54,762,685 (GRCm39) missense probably damaging 1.00
R7077:Enpp2 UTSW 15 54,764,787 (GRCm39) missense probably benign 0.36
R7265:Enpp2 UTSW 15 54,773,429 (GRCm39) critical splice donor site probably null
R7324:Enpp2 UTSW 15 54,741,170 (GRCm39) critical splice donor site probably null
R7331:Enpp2 UTSW 15 54,739,066 (GRCm39) missense probably damaging 1.00
R7452:Enpp2 UTSW 15 54,730,132 (GRCm39) missense probably damaging 0.99
R7494:Enpp2 UTSW 15 54,773,554 (GRCm39) missense probably damaging 1.00
R7557:Enpp2 UTSW 15 54,773,536 (GRCm39) missense probably damaging 1.00
R7574:Enpp2 UTSW 15 54,714,813 (GRCm39) missense probably benign
R7665:Enpp2 UTSW 15 54,702,790 (GRCm39) missense probably damaging 0.98
R7744:Enpp2 UTSW 15 54,764,629 (GRCm39) splice site probably null
R7940:Enpp2 UTSW 15 54,770,324 (GRCm39) missense probably damaging 1.00
R7942:Enpp2 UTSW 15 54,709,275 (GRCm39) missense probably damaging 1.00
R7951:Enpp2 UTSW 15 54,783,089 (GRCm39) missense probably benign 0.00
R8069:Enpp2 UTSW 15 54,710,697 (GRCm39) missense probably damaging 0.96
R8301:Enpp2 UTSW 15 54,714,803 (GRCm39) missense probably benign
R8376:Enpp2 UTSW 15 54,773,491 (GRCm39) missense probably damaging 1.00
R8916:Enpp2 UTSW 15 54,733,722 (GRCm39) missense possibly damaging 0.75
R9275:Enpp2 UTSW 15 54,713,484 (GRCm39) missense probably benign 0.21
R9304:Enpp2 UTSW 15 54,815,969 (GRCm39) missense probably damaging 1.00
R9377:Enpp2 UTSW 15 54,739,080 (GRCm39) missense probably damaging 1.00
R9674:Enpp2 UTSW 15 54,816,135 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATCTCTTCTGTGTCGGAACATC -3'
(R):5'- AACCTCCCCTTTAACCTGGG -3'

Sequencing Primer
(F):5'- TGTGTCGGAACATCCTACAGC -3'
(R):5'- CCCTTTAACCTGGGGTAATAAGC -3'
Posted On 2016-06-06