Incidental Mutation 'R8069:Enpp2'
ID 620193
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 067504-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8069 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 54702297-54816284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54710697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 744 (K744N)
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: K692N

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: K692N

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: K717N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: K717N

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: K744N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: K744N

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: K740N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: K740N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt T A 9: 4,296,823 (GRCm39) D261V probably benign Het
Abca8a T C 11: 109,980,876 (GRCm39) Y54C probably damaging Het
Adad2 T C 8: 120,342,746 (GRCm39) S431P probably benign Het
Adam18 A G 8: 25,118,246 (GRCm39) Y557H possibly damaging Het
Adam5 C T 8: 25,303,541 (GRCm39) E129K probably damaging Het
Adgra2 T C 8: 27,609,251 (GRCm39) V824A probably benign Het
Armc12 A T 17: 28,751,410 (GRCm39) K135* probably null Het
Aup1 C T 6: 83,032,910 (GRCm39) Q215* probably null Het
AW146154 G A 7: 41,129,935 (GRCm39) R394C probably benign Het
Canx T G 11: 50,202,531 (GRCm39) D25A possibly damaging Het
Ccnf A G 17: 24,443,989 (GRCm39) L593P probably damaging Het
Cd40 A T 2: 164,898,695 (GRCm39) I41F unknown Het
Cdh1 C T 8: 107,384,405 (GRCm39) A291V probably benign Het
Cdhr2 A T 13: 54,878,883 (GRCm39) I963F probably damaging Het
Cenpe G A 3: 134,949,479 (GRCm39) G88D probably damaging Het
Cep295 T A 9: 15,233,882 (GRCm39) T2305S possibly damaging Het
Cimap1a A T 7: 140,430,215 (GRCm39) T201S probably benign Het
Clcn4 T C 7: 7,299,758 (GRCm39) R24G probably damaging Het
Cnot7 T C 8: 40,960,514 (GRCm39) N98S possibly damaging Het
Defa3 T G 8: 21,778,288 (GRCm39) C91G probably damaging Het
Dennd2c T C 3: 103,072,446 (GRCm39) F844L probably damaging Het
Dido1 T C 2: 180,302,705 (GRCm39) D1733G probably benign Het
Dnah7b G A 1: 46,263,866 (GRCm39) W2116* probably null Het
Dnaja3 T C 16: 4,502,131 (GRCm39) V45A probably benign Het
Efcab7 T A 4: 99,717,615 (GRCm39) S11T unknown Het
Fam171b CCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGC 2: 83,643,218 (GRCm39) probably benign Het
Fdxacb1 T G 9: 50,680,135 (GRCm39) F107C probably damaging Het
Fnbp1 A T 2: 30,926,606 (GRCm39) Y433N probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm15446 T A 5: 110,088,306 (GRCm39) Y6* probably null Het
Gm45140 T C 6: 87,796,551 (GRCm39) H66R Het
Grin3b G A 10: 79,812,868 (GRCm39) R981Q unknown Het
Ipp T G 4: 116,368,053 (GRCm39) I95M probably benign Het
Iqca1 A G 1: 89,973,466 (GRCm39) F769L probably damaging Het
Jkamp C T 12: 72,136,832 (GRCm39) L67F probably damaging Het
Llgl2 T A 11: 115,744,112 (GRCm39) M773K probably damaging Het
Man2b1 A G 8: 85,823,674 (GRCm39) T973A probably benign Het
Mcm2 T C 6: 88,869,039 (GRCm39) Y271C probably damaging Het
Msl2 T C 9: 100,978,159 (GRCm39) S178P probably benign Het
Myo7a G T 7: 97,732,833 (GRCm39) S648* probably null Het
Neurl1b G T 17: 26,651,201 (GRCm39) V158F probably damaging Het
Nkain2 A G 10: 32,766,034 (GRCm39) V142A unknown Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Oma1 A T 4: 103,176,232 (GRCm39) probably benign Het
Or10ag58 A T 2: 87,265,364 (GRCm39) N178Y possibly damaging Het
Or5aq7 A G 2: 86,938,411 (GRCm39) Y107H probably damaging Het
Plekhg6 T C 6: 125,340,009 (GRCm39) T784A probably benign Het
Prtg T C 9: 72,752,265 (GRCm39) I217T probably benign Het
Ptx4 T C 17: 25,341,753 (GRCm39) F76S probably damaging Het
Rap1b A C 10: 117,657,514 (GRCm39) I55S probably damaging Het
Sftpd T C 14: 40,894,538 (GRCm39) T294A probably benign Het
Spg11 C T 2: 121,943,637 (GRCm39) V172I probably benign Het
Srms T A 2: 180,848,751 (GRCm39) H363L probably damaging Het
Tbc1d13 A T 2: 30,037,415 (GRCm39) M266L probably damaging Het
Tbc1d2 A C 4: 46,649,737 (GRCm39) C100G possibly damaging Het
Tdg A T 10: 82,474,627 (GRCm39) Q39L probably benign Het
Tiam1 G A 16: 89,586,146 (GRCm39) A1547V probably benign Het
Trpm1 A G 7: 63,858,718 (GRCm39) E380G possibly damaging Het
Unc13b T G 4: 43,177,597 (GRCm39) D2808E unknown Het
Usp25 A T 16: 76,865,943 (GRCm39) D287V possibly damaging Het
Zfp648 A T 1: 154,079,862 (GRCm39) Q7L probably benign Het
Zfp931 T C 2: 177,709,709 (GRCm39) R226G probably benign Het
Zfyve9 T A 4: 108,542,215 (GRCm39) E201D 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
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
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'- AAGGGCTAGATGACTCACTGG -3'
(R):5'- TGGGACTGTTTAAAGAAGCTGATAG -3'

Sequencing Primer
(F):5'- GGCTAGATGACTCACTGGCTTCC -3'
(R):5'- GGGGGAAATAAAAGAATAGATCTGCC -3'
Posted On 2020-01-23