Incidental Mutation 'R1854:Enpp2'
ID 205971
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 039878-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1854 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 54702297-54816284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54709219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 803 (E803K)
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 probably benign
Transcript: ENSMUST00000041591
AA Change: E751K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: E751K

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: E776K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: E776K

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: E803K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: E803K

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
AA Change: E799K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: E799K

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 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik C T 16: 88,504,668 (GRCm39) R43K possibly damaging Het
Acp1 A G 12: 30,947,804 (GRCm39) I78T possibly damaging Het
Afap1l1 G T 18: 61,876,365 (GRCm39) D417E probably benign Het
Agap2 G A 10: 126,916,385 (GRCm39) V299I unknown Het
Ahnak C T 19: 8,991,196 (GRCm39) A4160V possibly damaging Het
Anapc1 T C 2: 128,517,810 (GRCm39) E278G probably damaging Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
Atg2a A G 19: 6,302,461 (GRCm39) E928G probably benign Het
Atp2b2 A C 6: 113,819,244 (GRCm39) N16K probably damaging Het
Atp6ap1l T C 13: 91,031,707 (GRCm39) E325G probably damaging Het
Bfsp2 C T 9: 103,327,030 (GRCm39) G236S probably benign Het
Ccar1 A T 10: 62,600,296 (GRCm39) I545N probably damaging Het
Ccser2 A G 14: 36,640,548 (GRCm39) C11R possibly damaging Het
Cdc42bpg A T 19: 6,370,837 (GRCm39) H1310L possibly damaging Het
Ces1h T C 8: 94,085,450 (GRCm39) K339E probably benign Het
Cfap91 T C 16: 38,144,659 (GRCm39) probably null Het
Cit A G 5: 116,011,960 (GRCm39) Y189C probably damaging Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Cntrl A G 2: 35,012,696 (GRCm39) D278G probably damaging Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Col6a1 T G 10: 76,557,783 (GRCm39) Y151S probably damaging Het
Col6a2 T A 10: 76,450,646 (GRCm39) Q95L probably damaging Het
Cpd G T 11: 76,677,164 (GRCm39) P1185Q probably damaging Het
Cycs T A 6: 50,542,309 (GRCm39) I76F possibly damaging Het
Cyp4f16 T A 17: 32,756,073 (GRCm39) I34N probably damaging Het
Ddx1 A C 12: 13,279,332 (GRCm39) S436A probably benign Het
Defa30 A G 8: 21,625,500 (GRCm39) Y88C probably damaging Het
Dhx30 G A 9: 109,917,740 (GRCm39) L317F probably damaging Het
Dll3 C A 7: 27,995,835 (GRCm39) G322V probably damaging Het
Dnah10 G A 5: 124,881,753 (GRCm39) D2843N probably damaging Het
Dnaja3 C T 16: 4,515,133 (GRCm39) T266I probably damaging Het
Dpp9 T C 17: 56,509,885 (GRCm39) I314V probably benign Het
E030025P04Rik A G 11: 109,034,744 (GRCm39) V48A unknown Het
Eri3 G A 4: 117,506,562 (GRCm39) G297D probably benign Het
Esp34 A G 17: 38,870,424 (GRCm39) E38G possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Frzb A G 2: 80,276,724 (GRCm39) V154A possibly damaging Het
Fsip2 G T 2: 82,823,601 (GRCm39) A6445S possibly damaging Het
Gm11938 G A 11: 99,493,843 (GRCm39) T84I possibly damaging Het
Gm4787 T A 12: 81,425,108 (GRCm39) H350L probably damaging Het
Gpa33 A G 1: 165,992,759 (GRCm39) I291V probably benign Het
Gpr158 A G 2: 21,373,935 (GRCm39) Y290C probably damaging Het
Gpsm1 G T 2: 26,234,725 (GRCm39) G84W probably damaging Het
Hormad1 A G 3: 95,487,317 (GRCm39) N267S probably benign Het
Htr2a A T 14: 74,943,193 (GRCm39) I258F probably damaging Het
Htra4 T C 8: 25,523,597 (GRCm39) T323A probably damaging Het
Ift140 T A 17: 25,254,813 (GRCm39) F162Y probably benign Het
Islr2 T C 9: 58,107,099 (GRCm39) T54A probably damaging Het
Kcna4 T G 2: 107,126,829 (GRCm39) V521G probably damaging Het
Kdr C T 5: 76,113,565 (GRCm39) G768S possibly damaging Het
Kif6 G T 17: 50,208,799 (GRCm39) A740S probably benign Het
Lad1 T A 1: 135,755,468 (GRCm39) V248E probably damaging Het
Lamb1 T G 12: 31,368,271 (GRCm39) C1134G probably damaging Het
Lamc1 A G 1: 153,125,618 (GRCm39) Y552H probably damaging Het
Mctp1 A T 13: 76,973,860 (GRCm39) T706S probably damaging Het
Med12l A G 3: 59,168,193 (GRCm39) Y1541C probably damaging Het
Mnx1 C T 5: 29,682,780 (GRCm39) S165N unknown Het
Morn3 A T 5: 123,184,692 (GRCm39) probably null Het
Nalcn C T 14: 123,697,824 (GRCm39) R484Q probably damaging Het
Nr4a1 T C 15: 101,169,645 (GRCm39) I305T probably benign Het
Or1j11 C T 2: 36,311,886 (GRCm39) H159Y probably damaging Het
Or2z2 G A 11: 58,346,257 (GRCm39) R173W probably damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pcdhb5 T C 18: 37,455,393 (GRCm39) V591A possibly damaging Het
Pdia3 T C 2: 121,262,144 (GRCm39) I205T probably benign Het
Pdia4 A T 6: 47,790,161 (GRCm39) D26E unknown Het
Phactr3 C A 2: 177,924,940 (GRCm39) L292M probably damaging Het
Phf21b T A 15: 84,738,963 (GRCm39) I21F probably benign Het
Pign A G 1: 105,482,223 (GRCm39) V791A probably damaging Het
Pitpna A G 11: 75,499,929 (GRCm39) probably null Het
Piwil1 G T 5: 128,824,903 (GRCm39) E534* probably null Het
Plcz1 T A 6: 139,938,775 (GRCm39) I526F probably benign Het
Pms2 A T 5: 143,862,714 (GRCm39) K607I probably benign Het
Pnn T A 12: 59,118,399 (GRCm39) N327K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Polq C T 16: 36,882,471 (GRCm39) T1545I probably benign Het
Psd4 G A 2: 24,287,468 (GRCm39) E467K probably benign Het
Pstpip2 T A 18: 77,959,499 (GRCm39) L198Q probably damaging Het
Pzp T C 6: 128,479,188 (GRCm39) Y655C probably damaging Het
Qrsl1 C T 10: 43,770,541 (GRCm39) G117E probably damaging Het
Rad54b G A 4: 11,601,669 (GRCm39) C408Y probably damaging Het
Ralb T A 1: 119,403,797 (GRCm39) Q110L possibly damaging Het
Rrm2 A G 12: 24,763,151 (GRCm39) K218E probably damaging Het
Siglece A G 7: 43,309,360 (GRCm39) F66S probably benign Het
Slc17a8 A T 10: 89,442,627 (GRCm39) C69S unknown Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc38a11 A T 2: 65,193,860 (GRCm39) probably null Het
Smarcal1 G A 1: 72,625,258 (GRCm39) G135D possibly damaging Het
Snrnp70 T A 7: 45,026,644 (GRCm39) R242* probably null Het
St3gal5 T C 6: 72,109,077 (GRCm39) L55P probably damaging Het
Sulf1 A G 1: 12,908,661 (GRCm39) N558S probably benign Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tas2r113 T A 6: 132,870,292 (GRCm39) Y107N probably damaging Het
Tcf7 A G 11: 52,147,891 (GRCm39) V187A probably benign Het
Tdrd9 G A 12: 112,011,246 (GRCm39) G1152R probably damaging Het
Tfpi A G 2: 84,288,451 (GRCm39) Y9H probably benign Het
Tnk2 G A 16: 32,498,960 (GRCm39) V758I probably damaging Het
Trim72 A G 7: 127,608,254 (GRCm39) I251V probably benign Het
Trip12 T A 1: 84,705,866 (GRCm39) N655Y probably damaging Het
Ttn A G 2: 76,581,773 (GRCm39) V23040A probably damaging Het
Tulp2 T A 7: 45,167,367 (GRCm39) N188K probably damaging Het
Ube2c C T 2: 164,613,282 (GRCm39) H67Y probably damaging Het
Unc80 C A 1: 66,670,573 (GRCm39) P1899T possibly damaging Het
Usp34 C T 11: 23,376,153 (GRCm39) A1879V probably benign Het
Vmn2r118 G A 17: 55,918,556 (GRCm39) S112L possibly damaging Het
Wdfy3 A T 5: 102,036,052 (GRCm39) V2122E probably benign Het
Zcchc4 A G 5: 52,973,168 (GRCm39) Y344C probably damaging Het
Zdbf2 GAAAAA GAAAAAA 1: 63,344,701 (GRCm39) probably null Het
Zdhhc25 A T 15: 88,484,689 (GRCm39) H8L probably benign Het
Zfp455 A T 13: 67,355,881 (GRCm39) H383L probably damaging Het
Zfp663 A G 2: 165,195,211 (GRCm39) I336T probably benign Het
Zfp738 T A 13: 67,818,476 (GRCm39) H505L probably damaging Het
Zfp84 T G 7: 29,474,796 (GRCm39) F23V possibly damaging 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
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
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'- GGAAACGTGTATATCACAAACCTC -3'
(R):5'- CATCCTGCAGAGAGTTTGTCTG -3'

Sequencing Primer
(F):5'- GCCATAGTCAACCAAAGAT -3'
(R):5'- CTGAACCAAGTGTATCTGGGC -3'
Posted On 2014-06-23