Incidental Mutation 'R0302:Enpp2'
ID 24871
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 038514-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0302 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 54702297-54816284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54723457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 639 (T639A)
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: T587A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: T587A

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: T587A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: T587A

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
AA Change: T639A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: T639A

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: T635A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: T635A

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: ENSMUST00000228823
Meta Mutation Damage Score 0.0580 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs T C 4: 126,211,185 (GRCm39) E244G probably benign Het
Aldh1l2 G A 10: 83,356,229 (GRCm39) P54S probably damaging Het
Ankdd1a G A 9: 65,416,924 (GRCm39) probably benign Het
Ankra2 T A 13: 98,408,200 (GRCm39) S216R probably damaging Het
Asah2 A T 19: 32,030,356 (GRCm39) N105K probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Cacna1s A G 1: 136,028,342 (GRCm39) Y893C probably benign Het
Capza2 G A 6: 17,648,523 (GRCm39) R15H probably benign Het
Cbfa2t2 T C 2: 154,376,796 (GRCm39) probably benign Het
Ccdc96 A T 5: 36,643,445 (GRCm39) T484S possibly damaging Het
Cckar GCTTAGCCTCTTCT GCT 5: 53,857,641 (GRCm39) probably null Het
Ccl4 T A 11: 83,554,280 (GRCm39) probably benign Het
Cpt1b A G 15: 89,302,073 (GRCm39) Y702H probably benign Het
Cr1l G A 1: 194,800,101 (GRCm39) T153I probably damaging Het
Cyth2 C A 7: 45,460,009 (GRCm39) E57* probably null Het
Daxx T A 17: 34,132,594 (GRCm39) S575T probably damaging Het
Depdc5 T C 5: 33,061,890 (GRCm39) probably benign Het
Dnah12 A G 14: 26,521,956 (GRCm39) D1923G probably damaging Het
Dnah7b A G 1: 46,162,937 (GRCm39) T428A probably benign Het
Dnm2 G T 9: 21,411,639 (GRCm39) A619S probably benign Het
Epsti1 A T 14: 78,177,366 (GRCm39) H182L probably damaging Het
Exoc3l C T 8: 106,020,175 (GRCm39) R250Q probably benign Het
Ggn G T 7: 28,870,665 (GRCm39) probably null Het
Il1rap A G 16: 26,511,544 (GRCm39) N196S probably benign Het
Ints6 T C 14: 62,946,961 (GRCm39) T335A probably damaging Het
Itga1 G A 13: 115,148,854 (GRCm39) probably benign Het
Kifc3 G T 8: 95,830,098 (GRCm39) Q557K possibly damaging Het
Krt23 A G 11: 99,369,027 (GRCm39) I422T probably benign Het
Lcn2 A G 2: 32,274,901 (GRCm39) probably benign Het
Lonp2 A G 8: 87,364,619 (GRCm39) T326A possibly damaging Het
Lrpprc T C 17: 85,047,506 (GRCm39) I909V possibly damaging Het
Lrrc14 G T 15: 76,598,552 (GRCm39) R396L probably benign Het
Lypd6 T G 2: 50,055,679 (GRCm39) probably benign Het
Man2b1 A G 8: 85,819,645 (GRCm39) N610S probably damaging Het
Map2 A T 1: 66,453,987 (GRCm39) N959I probably benign Het
Mctp2 C T 7: 71,740,012 (GRCm39) V793I possibly damaging Het
Med25 A C 7: 44,529,982 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,748,616 (GRCm39) Y83C probably damaging Het
Mtbp A T 15: 55,488,820 (GRCm39) M499L probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Nfat5 T C 8: 108,085,333 (GRCm39) I542T probably damaging Het
Nr1h3 A G 2: 91,022,358 (GRCm39) M90T probably damaging Het
Nsmce4a A G 7: 130,147,623 (GRCm39) probably benign Het
Oprl1 G A 2: 181,361,021 (GRCm39) C318Y probably benign Het
Or5d40 T A 2: 88,015,854 (GRCm39) I211N possibly damaging Het
Pbx3 A T 2: 34,114,572 (GRCm39) S46T probably benign Het
Pign A T 1: 105,516,818 (GRCm39) F575I possibly damaging Het
Ptpn13 G T 5: 103,713,091 (GRCm39) S1738I probably benign Het
Rnf126 G T 10: 79,595,057 (GRCm39) P269Q probably damaging Het
Ryr3 G A 2: 112,477,468 (GRCm39) probably benign Het
Slc2a7 C T 4: 150,233,978 (GRCm39) A31V probably damaging Het
Slc6a12 A G 6: 121,340,218 (GRCm39) D487G probably damaging Het
Son G T 16: 91,453,032 (GRCm39) G593V probably damaging Het
Spata31d1a T C 13: 59,850,964 (GRCm39) N388S probably benign Het
Spg11 A T 2: 121,922,668 (GRCm39) M927K possibly damaging Het
Taf13 A G 3: 108,479,038 (GRCm39) M1V probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trio A G 15: 27,902,603 (GRCm39) F286S probably damaging Het
Trpm2 A C 10: 77,779,824 (GRCm39) probably benign Het
Ttc7b T C 12: 100,353,438 (GRCm39) M390V possibly damaging Het
Vmn1r184 A T 7: 25,966,968 (GRCm39) Q238L probably damaging Het
Zfp236 T C 18: 82,676,213 (GRCm39) E368G probably damaging Het
Zfr2 G T 10: 81,087,170 (GRCm39) 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
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
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'- GCACCTTCACTTGTGACCCATCAG -3'
(R):5'- GGAATGTTTGCCAGTTGACAGACAC -3'

Sequencing Primer
(F):5'- gaccacagagaccagaagag -3'
(R):5'- TGACAGACACTGGGGCTTTC -3'
Posted On 2013-04-16