Incidental Mutation 'R4799:Enpp2'
ID 369378
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 041997-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4799 (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 54773490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 77 (N77S)
Ref Sequence ENSEMBL: ENSMUSP00000133877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041591] [ENSMUST00000167541] [ENSMUST00000171545] [ENSMUST00000173516] [ENSMUST00000226339] [ENSMUST00000228222]
AlphaFold Q9R1E6
Predicted Effect probably damaging
Transcript: ENSMUST00000041591
AA Change: N77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: N77S

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: N77S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: N77S

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: N77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: N77S

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: N77S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: N77S

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 probably benign
Transcript: ENSMUST00000226339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227483
Predicted Effect probably benign
Transcript: ENSMUST00000228222
Meta Mutation Damage Score 0.1375 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (122/126)
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: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b C G 12: 70,215,838 (GRCm39) S170C probably damaging Het
Acads T A 5: 115,251,149 (GRCm39) T112S probably benign Het
Adgrl1 A G 8: 84,662,202 (GRCm39) H1021R probably benign Het
Ago3 A T 4: 126,241,665 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,527 (GRCm39) K412E probably benign Het
Arid1b C T 17: 5,389,496 (GRCm39) P1681S probably damaging Het
Atxn10 T C 15: 85,260,909 (GRCm39) probably null Het
AU040320 A G 4: 126,733,462 (GRCm39) T661A probably benign Het
Bhmt1b C A 18: 87,774,573 (GRCm39) A32E probably damaging Het
Capn7 T C 14: 31,082,514 (GRCm39) I455M probably benign Het
Capzb A G 4: 138,920,310 (GRCm39) probably benign Het
Car10 G A 11: 93,469,492 (GRCm39) V156I possibly damaging Het
Cbs T A 17: 31,851,826 (GRCm39) D59V probably damaging Het
Ccar2 T C 14: 70,377,003 (GRCm39) E819G probably damaging Het
Cdc73 T A 1: 143,503,613 (GRCm39) Q346L probably benign Het
Cdhr4 T C 9: 107,875,898 (GRCm39) probably benign Het
Cfap251 C T 5: 123,440,835 (GRCm39) H1131Y probably benign Het
Chd2 A T 7: 73,134,184 (GRCm39) M721K possibly damaging Het
Cntnap5b G A 1: 100,286,450 (GRCm39) G402R probably benign Het
Cps1 T C 1: 67,182,145 (GRCm39) Y120H probably damaging Het
Csf2 T C 11: 54,140,306 (GRCm39) D44G probably benign Het
Cubn T A 2: 13,291,835 (GRCm39) Q3330L possibly damaging Het
Cubn A G 2: 13,355,869 (GRCm39) S1788P probably damaging Het
Cul9 T C 17: 46,811,770 (GRCm39) D2486G possibly damaging Het
Cyp2c40 A T 19: 39,762,293 (GRCm39) S451R probably damaging Het
Cyp51 T A 5: 4,133,256 (GRCm39) T461S probably damaging Het
Cyth1 T C 11: 118,074,768 (GRCm39) M164V probably damaging Het
D130043K22Rik T C 13: 25,062,023 (GRCm39) I664T probably damaging Het
Ddc T C 11: 11,796,632 (GRCm39) probably null Het
Ddx21 A T 10: 62,423,900 (GRCm39) D589E probably damaging Het
Dgkb C T 12: 38,164,567 (GRCm39) R113C possibly damaging Het
Dglucy A T 12: 100,816,602 (GRCm39) M415L probably benign Het
Efnb2 A T 8: 8,673,104 (GRCm39) probably null Het
Elp4 T A 2: 105,639,612 (GRCm39) Q189L probably damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
F2rl1 G A 13: 95,650,477 (GRCm39) S135F possibly damaging Het
Fam133b T C 5: 3,607,815 (GRCm39) M65T probably damaging Het
Fanca A G 8: 124,014,941 (GRCm39) V689A probably damaging Het
Fbh1 C T 2: 11,760,558 (GRCm39) C79Y probably damaging Het
Fbxw7 C T 3: 84,811,168 (GRCm39) Q98* probably null Het
Flrt3 T C 2: 140,502,086 (GRCm39) N514S probably damaging Het
Foxj3 A T 4: 119,478,857 (GRCm39) S438C unknown Het
Gcm2 T C 13: 41,256,970 (GRCm39) K260E possibly damaging Het
Gm12863 C T 4: 118,811,685 (GRCm39) noncoding transcript Het
Gpnmb G T 6: 49,022,417 (GRCm39) probably null Het
Gsap C A 5: 21,455,941 (GRCm39) N379K probably benign Het
Hsd3b1 T A 3: 98,760,181 (GRCm39) Y270F probably benign Het
Ift70a2 T A 2: 75,807,729 (GRCm39) Y261F probably benign Het
Il22 C A 10: 118,041,058 (GRCm39) R55S probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lmbrd1 G A 1: 24,784,056 (GRCm39) probably null Het
Lrrcc1 C T 3: 14,601,156 (GRCm39) R63* probably null Het
Lyar A G 5: 38,382,123 (GRCm39) D35G probably damaging Het
Mbd4 C T 6: 115,822,283 (GRCm39) R442Q probably benign Het
Mib2 G T 4: 155,744,229 (GRCm39) S144R probably benign Het
Mms22l A T 4: 24,580,052 (GRCm39) probably null Het
Mtmr3 G A 11: 4,437,764 (GRCm39) H897Y probably benign Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nap1l4 A T 7: 143,088,200 (GRCm39) probably null Het
Ncor2 A T 5: 125,114,124 (GRCm39) probably null Het
Ndufa7 T C 17: 34,057,187 (GRCm39) probably benign Het
Ndufs1 C A 1: 63,200,108 (GRCm39) G268V probably damaging Het
Nfs1 A G 2: 155,976,369 (GRCm39) V175A possibly damaging Het
Obsl1 C A 1: 75,466,145 (GRCm39) A1528S possibly damaging Het
Or2z8 A G 8: 72,811,938 (GRCm39) N138S probably benign Het
Or4a79 C T 2: 89,551,706 (GRCm39) V250I probably benign Het
Or52z1 A T 7: 103,436,688 (GRCm39) F265L possibly damaging Het
Or7a42 T G 10: 78,791,931 (GRCm39) D297E probably null Het
Or8k39 C T 2: 86,563,018 (GRCm39) probably null Het
Pcdhb8 A G 18: 37,488,706 (GRCm39) D128G probably damaging Het
Pkp4 A T 2: 59,172,449 (GRCm39) I522F probably damaging Het
Plod3 G A 5: 137,019,654 (GRCm39) A398T probably benign Het
Pou4f3 A G 18: 42,529,052 (GRCm39) M332V possibly damaging Het
Prox1 A G 1: 189,885,669 (GRCm39) F593L probably damaging Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Prss50 A G 9: 110,692,864 (GRCm39) D328G probably damaging Het
Psmd6 C T 14: 14,120,126 (GRCm38) S71N probably benign Het
Ptprd A G 4: 76,009,769 (GRCm39) I764T probably benign Het
Ptprr C T 10: 115,884,123 (GRCm39) A60V probably benign Het
Raet1e T A 10: 22,057,199 (GRCm39) D174E probably damaging Het
Rbfox2 T C 15: 76,976,018 (GRCm39) I308M probably benign Het
Rnf20 G C 4: 49,649,962 (GRCm39) probably null Het
Rpap2 A T 5: 107,768,113 (GRCm39) H317L probably benign Het
Rsph6a T A 7: 18,799,783 (GRCm39) Y471* probably null Het
Sdhb A G 4: 140,704,777 (GRCm39) H246R possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Sin3b A C 8: 73,452,271 (GRCm39) I126L probably benign Het
Skint2 G A 4: 112,509,305 (GRCm39) A363T probably benign Het
Slc22a30 A G 19: 8,321,768 (GRCm39) I432T probably benign Het
Slc2a2 G A 3: 28,771,681 (GRCm39) probably null Het
Slco1a5 T C 6: 142,194,533 (GRCm39) Y370C possibly damaging Het
Sltm A G 9: 70,496,339 (GRCm39) H958R probably damaging Het
Smpdl3a C T 10: 57,684,111 (GRCm39) H290Y probably damaging Het
Snrnp40 A G 4: 130,256,549 (GRCm39) I91M probably damaging Het
Spag9 T A 11: 93,939,343 (GRCm39) F91I probably damaging Het
Spag9 A T 11: 93,939,342 (GRCm39) K90N possibly damaging Het
Stox1 A C 10: 62,501,516 (GRCm39) I348S probably damaging Het
Sult1e1 A G 5: 87,738,027 (GRCm39) V18A possibly damaging Het
Syne2 A G 12: 75,945,941 (GRCm39) M338V probably benign Het
Tbc1d23 T A 16: 57,012,991 (GRCm39) Q327L probably benign Het
Terf2 G T 8: 107,803,307 (GRCm39) H425Q probably benign Het
Timd2 A T 11: 46,568,094 (GRCm39) Y233* probably null Het
Tmem39a A G 16: 38,411,524 (GRCm39) probably benign Het
Trappc10 T C 10: 78,037,424 (GRCm39) D793G possibly damaging Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Unc93a T C 17: 13,339,782 (GRCm39) probably null Het
Utrn T C 10: 12,625,813 (GRCm39) T123A probably damaging Het
Vmn1r171 T C 7: 23,332,369 (GRCm39) I198T probably benign Het
Vmn1r213 T A 13: 23,196,016 (GRCm39) S200T probably damaging Het
Vmn2r108 T A 17: 20,682,891 (GRCm39) D771V probably damaging Het
Wls C T 3: 159,603,082 (GRCm39) T165I probably benign Het
Zc3h13 G A 14: 75,576,863 (GRCm39) C1657Y probably damaging Het
Zdhhc5 T C 2: 84,523,775 (GRCm39) K224E probably damaging Het
Zfp54 T A 17: 21,654,402 (GRCm39) Y299N probably damaging Het
Zfp820 A T 17: 22,037,966 (GRCm39) L454Q probably benign Het
Zfp960 T A 17: 17,308,698 (GRCm39) F471I probably damaging Het
Zswim5 A G 4: 116,830,169 (GRCm39) I515V probably benign Het
Zzef1 G T 11: 72,750,449 (GRCm39) S919I 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
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'- TGGAAAGTGCCTTCTTTGGGAC -3'
(R):5'- TTCTAAGTACCACTCTTGCATTGG -3'

Sequencing Primer
(F):5'- GGTTGAGCCAAGTTATTCATACTAAG -3'
(R):5'- GGTATCATGGCTAGTCCCTAAGC -3'
Posted On 2016-02-04