Incidental Mutation 'R5070:Enpp2'
ID 388698
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 042660-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5070 (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: 96.6%
  • 20x: 93.0%
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,749 (GRCm39) S739P possibly damaging Het
Acacb T C 5: 114,384,089 (GRCm39) I2206T possibly damaging Het
Actn2 A G 13: 12,303,408 (GRCm39) I464T possibly damaging Het
AI987944 C T 7: 41,024,748 (GRCm39) G77D probably benign Het
Ankar T C 1: 72,719,369 (GRCm39) probably null Het
Armc9 A T 1: 86,184,959 (GRCm39) H670L probably benign Het
Arvcf A G 16: 18,217,736 (GRCm39) Y412C probably damaging Het
Baiap3 A T 17: 25,468,082 (GRCm39) C283S probably damaging Het
Bend3 A T 10: 43,369,681 (GRCm39) E11D probably damaging Het
Birc6 C T 17: 74,872,967 (GRCm39) R409C probably damaging Het
Cds2 T A 2: 132,144,008 (GRCm39) Y4* probably null Het
Celsr1 G T 15: 85,823,335 (GRCm39) P1691Q possibly damaging Het
Chmp1a A T 8: 123,933,054 (GRCm39) V133E probably benign Het
Cnbd2 T C 2: 156,177,318 (GRCm39) V92A probably damaging Het
Comp G A 8: 70,829,145 (GRCm39) G272S probably benign Het
Csnk1a1 T A 18: 61,688,852 (GRCm39) F11I probably benign Het
Ctse A G 1: 131,595,917 (GRCm39) D203G probably damaging Het
Cyp1b1 T A 17: 80,018,040 (GRCm39) M372L probably benign Het
Cyp2c66 T A 19: 39,151,914 (GRCm39) S210T probably benign Het
Dnah1 G A 14: 31,004,375 (GRCm39) P2385S probably benign Het
Dsp A C 13: 38,381,099 (GRCm39) T2615P possibly damaging Het
Eif4g3 A G 4: 137,873,610 (GRCm39) T682A probably benign Het
Ercc6 T C 14: 32,292,020 (GRCm39) V1128A probably benign Het
Fam136b-ps C T 15: 31,276,862 (GRCm39) probably benign Het
Fbxl7 T A 15: 26,789,640 (GRCm39) H29L probably benign Het
Fbxw22 A G 9: 109,214,183 (GRCm39) V211A probably benign Het
Frk A T 10: 34,360,280 (GRCm39) K94* probably null Het
G0s2 T A 1: 192,954,870 (GRCm39) E71D probably damaging Het
Gfpt1 A G 6: 87,030,727 (GRCm39) probably null Het
Gga1 A G 15: 78,776,217 (GRCm39) D420G possibly damaging Het
Gldc T C 19: 30,095,998 (GRCm39) Q671R possibly damaging Het
Gpc6 A G 14: 117,424,181 (GRCm39) T90A probably benign Het
Gucy2g C A 19: 55,218,219 (GRCm39) V410F probably damaging Het
Ifnlr1 T C 4: 135,431,509 (GRCm39) S233P probably benign Het
Ighv1-9 A T 12: 114,547,377 (GRCm39) W55R probably damaging Het
Igsf10 T A 3: 59,235,714 (GRCm39) H1489L probably benign Het
Il17re T C 6: 113,435,971 (GRCm39) L39P probably damaging Het
Irag1 A G 7: 110,524,519 (GRCm39) S208P probably benign Het
Kcna2 T A 3: 107,011,953 (GRCm39) V178D probably damaging Het
Kcnk3 A G 5: 30,779,730 (GRCm39) H260R possibly damaging Het
Kctd19 T C 8: 106,118,631 (GRCm39) Y287C probably damaging Het
Klhl28 A T 12: 65,004,486 (GRCm39) M9K probably benign Het
Lama2 A G 10: 27,226,247 (GRCm39) probably null Het
Lrrc27 A T 7: 138,794,715 (GRCm39) D26V probably damaging Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Mei1 T A 15: 81,961,804 (GRCm39) C188S possibly damaging Het
Mettl13 C T 1: 162,373,468 (GRCm39) R261H possibly damaging Het
Mex3a A T 3: 88,443,694 (GRCm39) I257F probably damaging Het
Mib1 A G 18: 10,793,002 (GRCm39) E646G probably damaging Het
Mier2 T C 10: 79,385,411 (GRCm39) D139G probably benign Het
Mmp14 T A 14: 54,676,570 (GRCm39) Y372N probably damaging Het
Myh14 A G 7: 44,265,672 (GRCm39) V1569A possibly damaging Het
Myo18b T C 5: 112,909,212 (GRCm39) E1977G probably damaging Het
Myo3b T C 2: 70,083,456 (GRCm39) L675P probably damaging Het
N4bp1 A G 8: 87,587,165 (GRCm39) V591A probably damaging Het
Nedd9 C A 13: 41,470,074 (GRCm39) V360L probably benign Het
Oit3 C T 10: 59,259,849 (GRCm39) R518H probably damaging Het
Or10ag57 T G 2: 87,218,507 (GRCm39) C153G probably damaging Het
Or11g2 A G 14: 50,855,931 (GRCm39) N84S 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
Or1j14 T A 2: 36,417,778 (GRCm39) M118K probably damaging Het
Or2aj6 A G 16: 19,443,742 (GRCm39) I36T possibly damaging Het
Or2j6 A G 7: 139,980,482 (GRCm39) V159A probably benign Het
Or9s23 T A 1: 92,501,135 (GRCm39) S81T probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pask A T 1: 93,258,596 (GRCm39) C251S probably damaging Het
Pdzk1 A T 3: 96,757,637 (GRCm39) D31V probably benign Het
Pmfbp1 A T 8: 110,256,787 (GRCm39) Q497L probably damaging Het
Pofut1 T C 2: 153,103,486 (GRCm39) probably benign Het
Polr2h A G 16: 20,540,716 (GRCm39) N95S probably damaging Het
Pou2f3 A G 9: 43,056,578 (GRCm39) V93A possibly damaging Het
Ppfia1 G A 7: 144,068,210 (GRCm39) Q446* probably null Het
Prkd1 A T 12: 50,441,405 (GRCm39) L327* probably null Het
Prrt4 T C 6: 29,177,511 (GRCm39) E86G probably benign Het
Psen2 T C 1: 180,056,422 (GRCm39) I393V probably benign Het
Psma2 G A 13: 14,790,613 (GRCm39) V20I probably benign Het
Qser1 C T 2: 104,617,627 (GRCm39) V1062I possibly damaging Het
Rab11b G T 17: 33,967,855 (GRCm39) A114D probably damaging Het
Rag1 A T 2: 101,472,656 (GRCm39) W829R probably damaging Het
Rgl3 A G 9: 21,899,340 (GRCm39) probably null Het
Rgs8 C T 1: 153,541,650 (GRCm39) T3I probably damaging Het
Rnf17 T C 14: 56,743,385 (GRCm39) V1317A probably damaging Het
Rps6kb2 A T 19: 4,213,227 (GRCm39) D6E probably damaging Het
Shisal1 G T 15: 84,304,364 (GRCm39) A14E possibly damaging Het
Skint5 T A 4: 113,652,735 (GRCm39) I630F unknown Het
Skint7 T C 4: 111,841,331 (GRCm39) L257P 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
Sorl1 T C 9: 41,943,114 (GRCm39) K921E possibly damaging Het
Stub1 A G 17: 26,051,112 (GRCm39) L90P probably damaging Het
Sycp1 A T 3: 102,827,881 (GRCm39) S289T probably damaging Het
Taar7b T G 10: 23,876,359 (GRCm39) S175A probably benign Het
Tead3 T C 17: 28,560,451 (GRCm39) K51R probably benign Het
Tmed11 T A 5: 108,943,089 (GRCm39) I30L probably benign Het
Tmem131 A G 1: 36,893,986 (GRCm39) I139T probably damaging Het
Tmem191 A G 16: 17,095,559 (GRCm39) Q206R probably null 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
Uqcrq A G 11: 53,320,954 (GRCm39) probably null Het
Vmn1r215 T A 13: 23,260,666 (GRCm39) S235R probably benign Het
Vmn1r70 T C 7: 10,368,325 (GRCm39) V271A probably benign Het
Vps13a G A 19: 16,631,848 (GRCm39) R2596C probably benign Het
Vwa7 G A 17: 35,243,166 (GRCm39) V615I probably benign Het
Wdr90 T C 17: 26,065,307 (GRCm39) T1650A probably damaging Het
Zbtb32 T A 7: 30,290,891 (GRCm39) M135L probably benign Het
Zc2hc1c A G 12: 85,337,288 (GRCm39) D315G probably benign Het
Zfc3h1 T A 10: 115,254,688 (GRCm39) C1427* probably null Het
Zfp30 A G 7: 29,485,691 (GRCm39) probably benign Het
Zfp428 T A 7: 24,214,550 (GRCm39) D55E probably damaging Het
Zfyve26 A T 12: 79,302,135 (GRCm39) N1820K probably damaging Het
Zw10 C A 9: 48,988,759 (GRCm39) S675* probably null 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
R5068:Enpp2 UTSW 15 54,727,450 (GRCm39) missense probably damaging 1.00
R5069: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'- GCATCTCTTCTGTGTCGGAACATC -3'
(R):5'- AACCTCCCCTTTAACCTGGG -3'

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