Incidental Mutation 'R4765:Enpp2'
ID 366088
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 042406-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4765 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 54702297-54816284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54739068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 353 (V353A)
Ref Sequence ENSEMBL: ENSMUSP00000036180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041591] [ENSMUST00000167541] [ENSMUST00000171545] [ENSMUST00000173516]
AlphaFold Q9R1E6
Predicted Effect possibly damaging
Transcript: ENSMUST00000041591
AA Change: V353A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: V353A

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: V353A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: V353A

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 possibly damaging
Transcript: ENSMUST00000171545
AA Change: V405A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: V405A

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 possibly damaging
Transcript: ENSMUST00000173516
AA Change: V405A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: V405A

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: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,987 (GRCm39) R490C probably benign Het
Abcb11 A T 2: 69,076,211 (GRCm39) F1166I probably damaging Het
Acta2 T C 19: 34,223,552 (GRCm39) D181G probably damaging Het
Adgrv1 A G 13: 81,255,038 (GRCm39) I6195T probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankfy1 T G 11: 72,603,117 (GRCm39) S49A probably benign Het
Azi2 A T 9: 117,890,539 (GRCm39) probably benign Het
Bend3 A T 10: 43,386,746 (GRCm39) S380C probably damaging Het
Bicc1 T C 10: 70,776,423 (GRCm39) T759A probably damaging Het
Cdh10 G T 15: 19,013,364 (GRCm39) V655L probably damaging Het
Cdkn2aip C A 8: 48,166,582 (GRCm39) W75L probably damaging Het
Cenpj G A 14: 56,787,002 (GRCm39) R192* probably null Het
Cflar T C 1: 58,771,480 (GRCm39) S203P probably damaging Het
Chd6 A T 2: 160,808,164 (GRCm39) C1683* probably null Het
Cpsf2 A G 12: 101,963,699 (GRCm39) Y476C probably damaging Het
Cyp4a12a A G 4: 115,183,388 (GRCm39) D169G possibly damaging Het
D430041D05Rik T A 2: 104,044,441 (GRCm39) R1536S probably damaging Het
Depdc5 A C 5: 33,094,979 (GRCm39) D752A probably damaging Het
Dnah9 C T 11: 65,818,552 (GRCm39) G78D probably damaging Het
Drc1 G T 5: 30,506,075 (GRCm39) Q249H probably benign Het
Drg1 T C 11: 3,200,280 (GRCm39) I364V probably benign Het
Dtymk T C 1: 93,720,631 (GRCm39) H130R probably damaging Het
Elac2 T G 11: 64,883,048 (GRCm39) F140V probably damaging Het
Fat2 T C 11: 55,172,013 (GRCm39) D2900G probably damaging Het
Fermt2 G T 14: 45,699,693 (GRCm39) T536K probably benign Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gadl1 A G 9: 115,795,381 (GRCm39) K328R probably null Het
Gata6 A G 18: 11,054,394 (GRCm39) T108A probably benign Het
Gm16503 G T 4: 147,625,554 (GRCm39) G16V unknown Het
Gpr37 T G 6: 25,669,107 (GRCm39) E579A probably damaging Het
Gps2 T C 11: 69,807,187 (GRCm39) probably benign Het
Hcn4 A T 9: 58,765,260 (GRCm39) I581F unknown Het
Hfm1 T A 5: 106,990,405 (GRCm39) Y1335F probably benign Het
Igsf10 A T 3: 59,237,126 (GRCm39) S1018R probably benign Het
Katnal2 C T 18: 77,065,239 (GRCm39) probably null Het
Kctd8 T C 5: 69,498,191 (GRCm39) K152E possibly damaging Het
Lrp8 T C 4: 107,711,592 (GRCm39) C459R probably damaging Het
Ly6l A T 15: 75,321,543 (GRCm39) I48L probably benign Het
Megf10 A T 18: 57,420,866 (GRCm39) I835F possibly damaging Het
Mei1 A T 15: 81,996,686 (GRCm39) I946F possibly damaging Het
Mrtfb C A 16: 13,230,458 (GRCm39) P1048T probably damaging Het
Myo7b G C 18: 32,094,953 (GRCm39) L1881V probably benign Het
Nfkbiz T C 16: 55,639,387 (GRCm39) probably null Het
Or4b13 T A 2: 90,082,807 (GRCm39) Y175F probably damaging Het
Or5b24 T C 19: 12,912,440 (GRCm39) C113R possibly damaging Het
Pcdhgc5 T C 18: 37,955,122 (GRCm39) S799P probably benign Het
Plk4 A G 3: 40,756,457 (GRCm39) E97G probably damaging Het
Pole2 A T 12: 69,268,826 (GRCm39) H114Q possibly damaging Het
Rad9a C A 19: 4,250,488 (GRCm39) V109L probably benign Het
Scn8a A G 15: 100,938,352 (GRCm39) H1917R probably benign Het
Scyl2 C T 10: 89,495,160 (GRCm39) V304I probably damaging Het
Serpina3f G C 12: 104,185,690 (GRCm39) E298D probably benign Het
Shoc2 A G 19: 53,976,734 (GRCm39) E208G probably benign Het
Sin3a G A 9: 57,004,087 (GRCm39) V280I probably benign Het
Slc26a2 A T 18: 61,332,558 (GRCm39) I291N probably damaging Het
Slc4a7 T G 14: 14,762,414 (GRCm38) D600E probably damaging Het
Slc5a6 A T 5: 31,195,427 (GRCm39) F430L possibly damaging Het
Snx19 A C 9: 30,351,453 (GRCm39) Q840H probably damaging Het
Spast C A 17: 74,676,211 (GRCm39) D340E probably damaging Het
Sprr4 G A 3: 92,407,716 (GRCm39) P29S unknown Het
Stk11ip T G 1: 75,503,799 (GRCm39) L239R probably damaging Het
Thoc6 A G 17: 23,889,862 (GRCm39) L20P probably damaging Het
Tnfrsf8 A T 4: 145,023,447 (GRCm39) S129T probably benign Het
Tnrc6c A G 11: 117,633,753 (GRCm39) I1284V probably benign Het
Ttn T C 2: 76,602,851 (GRCm39) Y16711C probably damaging Het
Ttn A G 2: 76,541,331 (GRCm39) L33885P probably damaging Het
Ubn2 T A 6: 38,456,075 (GRCm39) C501S probably damaging Het
Ubr1 A T 2: 120,793,923 (GRCm39) L87* probably null Het
Uhmk1 T C 1: 170,027,470 (GRCm39) Y320C probably damaging Het
Vldlr T C 19: 27,217,947 (GRCm39) V465A probably damaging Het
Vmn1r1 C T 1: 181,985,471 (GRCm39) A65T probably benign Het
Vmn2r25 C T 6: 123,800,182 (GRCm39) C720Y probably damaging Het
Xrra1 T C 7: 99,555,775 (GRCm39) Y381H probably benign Het
Zfhx4 T C 3: 5,465,212 (GRCm39) L1790P probably benign Het
Zscan4d T A 7: 10,896,594 (GRCm39) M259L 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
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'- TCAATACCCTGGGAAACTTCTG -3'
(R):5'- CCTCTGGGCCAGAAGTTTTC -3'

Sequencing Primer
(F):5'- AGACAGGGTCTCACTTTGTAGCTC -3'
(R):5'- GGCCAGAAGTTTTCTTTCCAGAATG -3'
Posted On 2015-12-21