Incidental Mutation 'R0385:Enpp2'
ID 31257
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 038591-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0385 (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 54745555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 314 (G314R)
Ref Sequence ENSEMBL: ENSMUSP00000133877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041591] [ENSMUST00000167541] [ENSMUST00000171545] [ENSMUST00000173516]
AlphaFold Q9R1E6
Predicted Effect probably damaging
Transcript: ENSMUST00000041591
AA Change: G314R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: G314R

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 possibly damaging
Transcript: ENSMUST00000167541
AA Change: G314R

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: G314R

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: G314R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: G314R

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: G314R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: G314R

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: 99.2%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,122,574 (GRCm39) N331S probably benign Het
Adk A G 14: 21,368,142 (GRCm39) N189S probably benign Het
Apc T A 18: 34,448,997 (GRCm39) N1930K probably damaging Het
Arhgap28 T C 17: 68,171,601 (GRCm39) D391G probably damaging Het
Atn1 G T 6: 124,720,334 (GRCm39) probably benign Het
C2cd5 T C 6: 142,987,216 (GRCm39) E471G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cap2 T C 13: 46,714,023 (GRCm39) L34P probably damaging Het
Cdc42ep2 T A 19: 5,968,553 (GRCm39) M51L probably benign Het
Cntn5 C T 9: 9,972,875 (GRCm39) A254T probably damaging Het
Dicer1 A T 12: 104,670,433 (GRCm39) L1044H probably damaging Het
Dkk3 A C 7: 111,757,430 (GRCm39) M58R probably damaging Het
Dpy19l3 G A 7: 35,452,130 (GRCm39) R5W probably damaging Het
Dsg1c C T 18: 20,416,711 (GRCm39) P871S probably damaging Het
Dusp1 A T 17: 26,726,670 (GRCm39) S131T probably benign Het
Entr1 T C 2: 26,277,671 (GRCm39) E41G possibly damaging Het
Fam222b C A 11: 78,045,756 (GRCm39) P439Q probably benign Het
Fastkd2 A T 1: 63,776,970 (GRCm39) I369F probably benign Het
Fdps G A 3: 89,002,201 (GRCm39) S205F probably damaging Het
Fmo1 A T 1: 162,663,773 (GRCm39) V252E possibly damaging Het
Frmd5 A G 2: 121,386,055 (GRCm39) Y230H probably damaging Het
Gal C T 19: 3,461,171 (GRCm39) V88I probably benign Het
Gnptab T C 10: 88,272,387 (GRCm39) I1009T probably damaging Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Klhdc7a A T 4: 139,694,016 (GRCm39) D310E probably benign Het
Klk4 T C 7: 43,533,432 (GRCm39) M97T probably benign Het
Krt82 C T 15: 101,454,028 (GRCm39) V227M probably damaging Het
Lpp T C 16: 24,580,587 (GRCm39) V226A probably damaging Het
Mbd1 AGCTGACTCGGTAC A 18: 74,406,312 (GRCm39) probably null Het
Mcm10 T C 2: 5,008,965 (GRCm39) K335E possibly damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myb T C 10: 21,030,611 (GRCm39) D62G possibly damaging Het
Nasp A T 4: 116,467,892 (GRCm39) N364K probably benign Het
Npsr1 A G 9: 24,224,573 (GRCm39) N317D probably damaging Het
Nup210 A G 6: 91,005,777 (GRCm39) V619A possibly damaging Het
Oser1 C T 2: 163,253,316 (GRCm39) probably null Het
Pcdhb4 T C 18: 37,442,268 (GRCm39) F526S probably damaging Het
Plekhh3 T C 11: 101,055,967 (GRCm39) N444S probably damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Pou2f2 G A 7: 24,815,501 (GRCm39) Q89* probably null Het
Ptprb A G 10: 116,186,083 (GRCm39) I1713V probably benign Het
Ptprd A G 4: 76,046,902 (GRCm39) Y442H probably damaging Het
Rad21 A T 15: 51,837,259 (GRCm39) I152N possibly damaging Het
Ralgapa1 A G 12: 55,723,823 (GRCm39) S1568P probably damaging Het
Rhag T A 17: 41,145,618 (GRCm39) V357E probably damaging Het
Rnf121 A T 7: 101,678,324 (GRCm39) D174E possibly damaging Het
Sf3b4 T C 3: 96,080,298 (GRCm39) Y16H probably damaging Het
Slc1a3 C T 15: 8,668,619 (GRCm39) V449I probably damaging Het
Slc20a2 A G 8: 23,058,409 (GRCm39) I648M probably benign Het
Slc25a25 T A 2: 32,307,834 (GRCm39) I254F probably damaging Het
Slit3 A G 11: 35,591,109 (GRCm39) H1307R probably damaging Het
Sorl1 C A 9: 41,943,205 (GRCm39) M890I probably damaging Het
Supt16 A C 14: 52,414,175 (GRCm39) M468R probably benign Het
Taf4b T C 18: 14,916,817 (GRCm39) S56P probably benign Het
Tapt1 T C 5: 44,375,443 (GRCm39) probably null Het
Tmco3 T G 8: 13,346,027 (GRCm39) C288W probably damaging Het
Tpcn2 A G 7: 144,830,911 (GRCm39) Y145H probably damaging Het
Ttn C T 2: 76,712,061 (GRCm39) probably benign Het
Usb1 G T 8: 96,071,946 (GRCm39) W215C probably damaging Het
Usp2 C G 9: 44,004,047 (GRCm39) T305R probably damaging Het
Vmn1r13 G A 6: 57,187,690 (GRCm39) S283N probably benign Het
Vps54 A G 11: 21,256,381 (GRCm39) K467E possibly damaging Het
Wnk2 G T 13: 49,221,604 (GRCm39) S1121Y probably damaging Het
Zbed6 A T 1: 133,584,522 (GRCm39) D938E probably 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
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'- TCCTTCTGTCCTAGCCAATGGTAGC -3'
(R):5'- TGAAGTGGCACTTGCCAGTTCC -3'

Sequencing Primer
(F):5'- ATGGTAGCCAAATCTTCACCTG -3'
(R):5'- GAGGAAGTAAAAGTTCTCCATCATCC -3'
Posted On 2013-04-24