Incidental Mutation 'R6525:Enpp2'
ID 521749
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 044651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6525 (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 54733607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 451 (N451S)
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: N399S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: N399S

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: N399S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: N399S

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: N451S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: N451S

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: N451S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: N451S

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: 99.6%
  • 10x: 97.8%
  • 20x: 93.0%
Validation Efficiency 96% (71/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,931,308 (GRCm39) E1447G probably benign Het
Acss2 A G 2: 155,392,337 (GRCm39) N261S probably benign Het
Adcy8 C A 15: 64,609,243 (GRCm39) G859* probably null Het
Agbl3 A T 6: 34,780,529 (GRCm39) K496* probably null Het
Antxrl A T 14: 33,782,363 (GRCm39) D182V probably damaging Het
Arid5b A G 10: 67,933,496 (GRCm39) L559P possibly damaging Het
Azi2 T A 9: 117,876,663 (GRCm39) S60T probably damaging Het
Bahcc1 T C 11: 120,176,048 (GRCm39) Y1931H probably damaging Het
Cnga1 T A 5: 72,775,574 (GRCm39) E49V probably damaging Het
Col3a1 A G 1: 45,386,339 (GRCm39) N160D possibly damaging Het
Crem C A 18: 3,268,070 (GRCm39) R267L probably damaging Het
Ddx52 T C 11: 83,844,145 (GRCm39) probably null Het
Ddx6 T C 9: 44,534,926 (GRCm39) I127T probably damaging Het
Dop1b T A 16: 93,606,304 (GRCm39) Y2094N probably damaging Het
Dst C A 1: 34,202,216 (GRCm39) N181K probably damaging Het
Dusp7 A G 9: 106,246,483 (GRCm39) K163E possibly damaging Het
Dynlt1a T A 17: 6,362,014 (GRCm39) T55S probably benign Het
Faap100 C A 11: 120,269,590 (GRCm39) probably null Het
Fam53a T C 5: 33,765,262 (GRCm39) N148S probably damaging Het
Fat2 T C 11: 55,174,626 (GRCm39) D2029G probably damaging Het
Flcn A T 11: 59,684,998 (GRCm39) N484K possibly damaging Het
Gbp10 T A 5: 105,383,950 (GRCm39) E17D probably benign Het
Gm14226 T C 2: 154,867,003 (GRCm39) V320A possibly damaging Het
Gna13 T C 11: 109,286,765 (GRCm39) I196T probably damaging Het
Gorasp1 G T 9: 119,757,061 (GRCm39) P374T possibly damaging Het
Hc T C 2: 34,881,236 (GRCm39) D1461G probably benign Het
Hmcn1 T C 1: 150,573,317 (GRCm39) N2111D probably damaging Het
Hs3st3b1 G A 11: 63,812,424 (GRCm39) S97L probably benign Het
Hsdl2 A G 4: 59,612,696 (GRCm39) T296A probably damaging Het
Impg2 A G 16: 56,025,512 (GRCm39) D48G probably damaging Het
Kbtbd12 A T 6: 88,591,062 (GRCm39) N383K probably benign Het
Kcnj12 T G 11: 60,960,397 (GRCm39) F232V probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Ldhb T C 6: 142,436,191 (GRCm39) D326G probably benign Het
Lrrc49 A G 9: 60,505,432 (GRCm39) L607S probably damaging Het
Ltn1 A G 16: 87,217,074 (GRCm39) S388P probably damaging Het
Mansc4 A G 6: 146,976,645 (GRCm39) S324P probably benign Het
Meltf G A 16: 31,707,717 (GRCm39) W368* probably null Het
Nacad A G 11: 6,552,255 (GRCm39) L312P probably damaging Het
Ndc1 G T 4: 107,225,304 (GRCm39) G7W probably benign Het
Nmral1 T A 16: 4,532,296 (GRCm39) K172* probably null Het
Nol9 G T 4: 152,123,906 (GRCm39) R32L probably damaging Het
Nsun5 A G 5: 135,403,912 (GRCm39) Y296C probably damaging Het
Or4k51 C T 2: 111,585,329 (GRCm39) T245I probably benign Het
Oscp1 A G 4: 125,970,571 (GRCm39) D120G possibly damaging Het
Parp14 C T 16: 35,680,811 (GRCm39) C274Y probably benign Het
Pced1b T A 15: 97,282,679 (GRCm39) H239Q possibly damaging Het
Pgap1 T C 1: 54,521,048 (GRCm39) I865V probably benign Het
Ppp6r3 T A 19: 3,543,936 (GRCm39) S360C probably damaging Het
Prb1a A G 6: 132,184,467 (GRCm39) S389P unknown Het
Prr16 T G 18: 51,436,227 (GRCm39) S235R probably benign Het
Rab11fip1 T C 8: 27,646,527 (GRCm39) N183S probably benign Het
Rcn1 A G 2: 105,219,320 (GRCm39) probably null Het
Rimkla C A 4: 119,325,288 (GRCm39) A374S probably benign Het
Skint8 A T 4: 111,785,935 (GRCm39) D127V probably damaging Het
Slc12a6 A G 2: 112,182,796 (GRCm39) K724E probably damaging Het
Slc13a3 T C 2: 165,248,667 (GRCm39) N537S unknown Het
Slc26a5 T C 5: 22,025,348 (GRCm39) D457G possibly damaging Het
Slx4ip T C 2: 136,842,138 (GRCm39) V21A possibly damaging Het
Stt3b A G 9: 115,087,626 (GRCm39) Y291H probably damaging Het
Syn3 G A 10: 86,302,916 (GRCm39) P80S probably damaging Het
Tasor2 G A 13: 3,626,540 (GRCm39) Q455* probably null Het
Tiam1 A T 16: 89,655,485 (GRCm39) probably null Het
Tjp1 T C 7: 64,993,399 (GRCm39) D58G probably damaging Het
Tmprss15 T A 16: 78,800,266 (GRCm39) I621F probably damaging Het
Tns1 C T 1: 73,992,629 (GRCm39) S683N probably damaging Het
Ttn A G 2: 76,773,436 (GRCm39) L2322P probably damaging Het
Ugdh G T 5: 65,574,402 (GRCm39) H409N probably damaging Het
Vmn2r81 T A 10: 79,129,560 (GRCm39) M817K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zbtb34 A G 2: 33,302,145 (GRCm39) V132A probably damaging Het
Zfp119b A G 17: 56,246,992 (GRCm39) C33R 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
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
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'- TTGGCACATGCTGCTCTGTG -3'
(R):5'- GGAATAATCTCAGTCGTGATGTTTTCC -3'

Sequencing Primer
(F):5'- TCTGTGCCCAGAACCACTG -3'
(R):5'- AGTCGTGATGTTTTCCTCTAATTTGC -3'
Posted On 2018-06-06