Incidental Mutation 'R6229:Enpp2'
ID 504584
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 044358-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6229 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 54702297-54816284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54741228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 357 (R357G)
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
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
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425

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: R357G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: R357G

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: R357G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: R357G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (69/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G A 1: 120,099,213 (GRCm39) probably null Het
Adamts6 G A 13: 104,483,900 (GRCm39) probably null Het
Add3 C A 19: 53,223,277 (GRCm39) A343D probably benign Het
Ankub1 T C 3: 57,572,528 (GRCm39) D398G probably benign Het
Apbb1 C T 7: 105,222,937 (GRCm39) A225T probably damaging Het
Apbb1 C A 7: 105,222,938 (GRCm39) W224C probably damaging Het
Arhgef40 A T 14: 52,227,547 (GRCm39) Q431L probably benign Het
Calm4 A G 13: 3,888,038 (GRCm39) D48G possibly damaging Het
Ccdc18 A T 5: 108,319,484 (GRCm39) I502L probably benign Het
Cftr T C 6: 18,220,683 (GRCm39) S185P probably damaging Het
Chd2 C A 7: 73,101,471 (GRCm39) K1418N possibly damaging Het
Cmya5 A C 13: 93,229,814 (GRCm39) V1758G probably benign Het
Cpsf4l T C 11: 113,599,680 (GRCm39) K35R possibly damaging Het
Cyp2c68 A T 19: 39,727,622 (GRCm39) V119E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah3 G T 7: 119,564,711 (GRCm39) Q2651K probably benign Het
Eif4g2 T C 7: 110,676,920 (GRCm39) probably null Het
Enc1 A G 13: 97,381,999 (GRCm39) R170G probably benign Het
Epb41l2 A G 10: 25,375,734 (GRCm39) K58E possibly damaging Het
Fis1 A G 5: 136,994,528 (GRCm39) probably null Het
Fmo9 A C 1: 166,505,126 (GRCm39) M89R possibly damaging Het
Gm6096 A C 7: 33,950,676 (GRCm39) I72L possibly damaging Het
Golga5 G A 12: 102,450,740 (GRCm39) M464I probably benign Het
Got1l1 T C 8: 27,688,464 (GRCm39) probably null Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Igfbpl1 A G 4: 45,813,517 (GRCm39) Y233H probably damaging Het
Il18r1 T C 1: 40,513,923 (GRCm39) I43T probably benign Het
Ints8 T C 4: 11,252,891 (GRCm39) N64D probably damaging Het
Kalrn A G 16: 33,875,441 (GRCm39) S44P probably damaging Het
Kif13b G T 14: 64,976,016 (GRCm39) G444W probably damaging Het
Lmo1 A G 7: 108,742,832 (GRCm39) C13R probably damaging Het
Lrfn2 T A 17: 49,404,160 (GRCm39) M761K possibly damaging Het
Lrrd1 T C 5: 3,913,887 (GRCm39) I719T probably damaging Het
Madd A T 2: 90,974,015 (GRCm39) V1423E probably damaging Het
Mbnl1 T A 3: 60,528,749 (GRCm39) probably null Het
Mrps28 T C 3: 8,965,097 (GRCm39) D114G probably damaging Het
Muc6 T A 7: 141,226,792 (GRCm39) M1412L probably benign Het
Myf6 T C 10: 107,330,280 (GRCm39) K96E possibly damaging Het
Myrf A G 19: 10,197,162 (GRCm39) V462A probably benign Het
Nbeal1 T C 1: 60,287,524 (GRCm39) S923P possibly damaging Het
Nckap1l T C 15: 103,381,549 (GRCm39) L430P possibly damaging Het
Nfatc2ip C T 7: 125,995,113 (GRCm39) probably null Het
Or11g24 A G 14: 50,662,662 (GRCm39) R229G probably benign Het
Or12e10 G T 2: 87,640,431 (GRCm39) C89F probably damaging Het
Or2w4 T C 13: 21,795,819 (GRCm39) I107V probably benign Het
Or7g33 T A 9: 19,449,014 (GRCm39) I71F possibly damaging Het
Plin2 A G 4: 86,586,903 (GRCm39) V5A probably benign Het
Pramel31 T C 4: 144,090,199 (GRCm39) M413T probably benign Het
Ptprm T A 17: 66,995,295 (GRCm39) D1311V probably damaging Het
Recql5 A T 11: 115,821,540 (GRCm39) I72N probably damaging Het
Sall2 A T 14: 52,550,648 (GRCm39) M847K probably benign Het
Slc23a1 T C 18: 35,752,577 (GRCm39) R567G probably benign Het
Slc28a1 G A 7: 80,774,753 (GRCm39) R200H probably benign Het
Smc4 T A 3: 68,937,580 (GRCm39) Y843* probably null Het
Syne2 C A 12: 75,967,994 (GRCm39) Q915K probably benign Het
Tas2r131 T A 6: 132,933,985 (GRCm39) I275F probably damaging Het
Tcf20 T C 15: 82,739,081 (GRCm39) H790R probably damaging Het
Tm7sf3 A G 6: 146,514,887 (GRCm39) F310S possibly damaging Het
Tmem9b T A 7: 109,344,627 (GRCm39) probably null Het
Tnfaip8 A G 18: 50,184,742 (GRCm39) probably benign Het
Top2b T G 14: 16,409,838 (GRCm38) L835R probably damaging Het
Trappc8 A T 18: 21,003,802 (GRCm39) S209T probably benign Het
Uap1 C T 1: 169,994,302 (GRCm39) R58Q probably benign Het
Upk3bl A G 5: 136,092,915 (GRCm39) probably null Het
Usp34 A G 11: 23,396,778 (GRCm39) H596R probably damaging Het
Vmn1r181 C T 7: 23,683,580 (GRCm39) A15V probably damaging Het
Vmn2r54 T A 7: 12,365,883 (GRCm39) K350N probably benign Het
Vmn2r89 A G 14: 51,693,178 (GRCm39) H176R probably benign Het
Vwa7 A G 17: 35,243,241 (GRCm39) R640G 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
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
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'- AGATGGTCCTAGACTCAGAGCC -3'
(R):5'- CAACTCAGACTCTGCTGACC -3'

Sequencing Primer
(F):5'- TCCTAGACTCAGAGCCAAGGAG -3'
(R):5'- CCCCAGATGGAAAAGTATGAGCTTTC -3'
Posted On 2018-02-28