Incidental Mutation 'R6824:Enpp5'
ID 534075
Institutional Source Beutler Lab
Gene Symbol Enpp5
Ensembl Gene ENSMUSG00000023960
Gene Name ectonucleotide pyrophosphatase/phosphodiesterase 5
Synonyms D17Abb1e
MMRRC Submission 044936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6824 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 44389704-44397458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44396155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 356 (G356S)
Ref Sequence ENSEMBL: ENSMUSP00000122767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024756] [ENSMUST00000126032] [ENSMUST00000154166]
AlphaFold Q9EQG7
Predicted Effect probably damaging
Transcript: ENSMUST00000024756
AA Change: G356S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: G356S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 30 342 7.1e-91 PFAM
transmembrane domain 430 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126032
Predicted Effect probably damaging
Transcript: ENSMUST00000154166
AA Change: G356S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: G356S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 30 342 2.1e-86 PFAM
transmembrane domain 430 452 N/A INTRINSIC
Meta Mutation Damage Score 0.9168 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 A G 6: 39,552,058 (GRCm39) D275G probably benign Het
Cdh4 G A 2: 179,439,351 (GRCm39) R166H probably damaging Het
Chl1 A G 6: 103,691,510 (GRCm39) K1051E probably damaging Het
Chn2 A T 6: 54,249,938 (GRCm39) M16L probably benign Het
Cmas A G 6: 142,716,962 (GRCm39) T285A possibly damaging Het
Cnga4 A T 7: 105,056,036 (GRCm39) M213L probably benign Het
Ctif C T 18: 75,654,782 (GRCm39) R248Q probably damaging Het
Cyth3 T C 5: 143,672,265 (GRCm39) I60T probably damaging Het
Dach1 A G 14: 98,256,328 (GRCm39) I310T possibly damaging Het
Defb6 T C 8: 19,278,099 (GRCm39) I57T probably benign Het
Dnajc27 T C 12: 4,156,897 (GRCm39) V262A possibly damaging Het
Emsy G A 7: 98,242,614 (GRCm39) T1175M probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat4 T A 3: 39,011,674 (GRCm39) V2258E probably benign Het
Gm136 G A 4: 34,746,591 (GRCm39) T140I probably benign Het
Gps1 T C 11: 120,678,254 (GRCm39) F265S probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Hnrnpul2 T C 19: 8,804,081 (GRCm39) V560A possibly damaging Het
Kmt2b A G 7: 30,285,701 (GRCm39) probably benign Het
Krt8 T C 15: 101,906,875 (GRCm39) N317S possibly damaging Het
Lad1 A G 1: 135,755,479 (GRCm39) T252A probably benign Het
Maml2 G A 9: 13,608,513 (GRCm39) S743N possibly damaging Het
Mrpl9 C A 3: 94,350,677 (GRCm39) P7H possibly damaging Het
Myb T A 10: 21,021,019 (GRCm39) H470L probably benign Het
Nicol1 T C 5: 34,141,069 (GRCm39) probably benign Het
Nr1i3 T C 1: 171,042,542 (GRCm39) I56T probably benign Het
Nrdc A G 4: 108,900,622 (GRCm39) Y338C probably damaging Het
Or13n4 A G 7: 106,423,664 (GRCm39) V23A probably benign Het
Pcdhb20 T A 18: 37,638,752 (GRCm39) M426K probably benign Het
Pde6d T C 1: 86,473,485 (GRCm39) T104A possibly damaging Het
Ptprz1 A T 6: 23,002,130 (GRCm39) T1407S probably benign Het
Recql5 C T 11: 115,814,038 (GRCm39) R369Q possibly damaging Het
Rnf180 T A 13: 105,318,023 (GRCm39) D463V probably damaging Het
Sart3 C T 5: 113,882,600 (GRCm39) probably null Het
Sdk2 T C 11: 113,758,760 (GRCm39) D488G probably benign Het
Slc9a9 C T 9: 95,109,251 (GRCm39) P538S probably damaging Het
Snap29 A G 16: 17,240,370 (GRCm39) K159E probably benign Het
Spaca1 A G 4: 34,049,869 (GRCm39) V43A probably benign Het
Stk10 T C 11: 32,537,363 (GRCm39) S191P probably damaging Het
Tbc1d1 A G 5: 64,414,245 (GRCm39) H73R probably benign Het
Tcerg1l A G 7: 137,995,844 (GRCm39) probably null Het
Tmem67 T C 4: 12,051,449 (GRCm39) Y793C probably damaging Het
Ttll12 A T 15: 83,475,578 (GRCm39) probably null Het
Vmn2r61 G T 7: 41,949,403 (GRCm39) V608L probably benign Het
Xpo4 A T 14: 57,850,860 (GRCm39) I348N probably damaging Het
Zfp941 G A 7: 140,392,612 (GRCm39) T249M probably benign Het
Other mutations in Enpp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Enpp5 APN 17 44,396,088 (GRCm39) splice site probably benign
IGL01593:Enpp5 APN 17 44,391,612 (GRCm39) missense probably benign
IGL01654:Enpp5 APN 17 44,392,066 (GRCm39) missense possibly damaging 0.82
IGL02120:Enpp5 APN 17 44,391,736 (GRCm39) missense probably benign 0.04
IGL02142:Enpp5 APN 17 44,396,468 (GRCm39) missense probably benign 0.01
IGL02531:Enpp5 APN 17 44,391,843 (GRCm39) missense probably damaging 1.00
IGL02630:Enpp5 APN 17 44,393,766 (GRCm39) missense probably damaging 1.00
Cacao UTSW 17 44,396,467 (GRCm39) missense probably benign 0.00
canola UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R1101:Enpp5 UTSW 17 44,392,258 (GRCm39) missense possibly damaging 0.77
R2074:Enpp5 UTSW 17 44,396,264 (GRCm39) missense probably benign 0.25
R2679:Enpp5 UTSW 17 44,396,279 (GRCm39) missense probably damaging 1.00
R4739:Enpp5 UTSW 17 44,392,027 (GRCm39) missense probably damaging 1.00
R4817:Enpp5 UTSW 17 44,391,871 (GRCm39) makesense probably null
R5152:Enpp5 UTSW 17 44,392,024 (GRCm39) missense probably damaging 1.00
R6021:Enpp5 UTSW 17 44,396,210 (GRCm39) missense probably benign 0.22
R6160:Enpp5 UTSW 17 44,392,259 (GRCm39) missense possibly damaging 0.77
R6330:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6385:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6387:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6452:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6454:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6461:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6462:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6463:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6469:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6470:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6471:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6473:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6505:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6563:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6564:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6760:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6812:Enpp5 UTSW 17 44,396,467 (GRCm39) missense probably benign 0.00
R6821:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6963:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R6965:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7169:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7171:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7375:Enpp5 UTSW 17 44,391,868 (GRCm39) missense probably benign 0.02
R7393:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7394:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7411:Enpp5 UTSW 17 44,392,366 (GRCm39) missense probably damaging 1.00
R7412:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7446:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7447:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7560:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7561:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7589:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7590:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R7591:Enpp5 UTSW 17 44,396,155 (GRCm39) missense probably damaging 1.00
R8211:Enpp5 UTSW 17 44,392,402 (GRCm39) critical splice donor site probably null
R9256:Enpp5 UTSW 17 44,396,414 (GRCm39) missense probably benign 0.00
R9321:Enpp5 UTSW 17 44,393,689 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- GCCTGTAAGAAAGACGGGTATC -3'
(R):5'- ACTCTGTGTGTAAGGAATTGGC -3'

Sequencing Primer
(F):5'- GACGGGTATCTAGGTAACATTTGAC -3'
(R):5'- CTTGGGAGTTGCTGAACTGAGAAG -3'
Posted On 2018-09-12