Incidental Mutation 'IGL01459:Entpd3'
ID 87924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Entpd3
Ensembl Gene ENSMUSG00000041608
Gene Name ectonucleoside triphosphate diphosphohydrolase 3
Synonyms Cd39l3, NTPDase-3, HB6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01459
Quality Score
Status
Chromosome 9
Chromosomal Location 120368884-120397393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120391007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 420 (S420P)
Ref Sequence ENSEMBL: ENSMUSP00000036830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047687]
AlphaFold Q8BFW6
Predicted Effect probably damaging
Transcript: ENSMUST00000047687
AA Change: S420P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036830
Gene: ENSMUSG00000041608
AA Change: S420P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:GDA1_CD39 49 483 4.3e-102 PFAM
transmembrane domain 486 508 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143579
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no deficits in nucleotide hydrolysis or alterations in nociceptive behaviors except for a modest reduction in beta-alanine-mediated itch behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a2 A G 5: 122,607,715 (GRCm39) S265P probably benign Het
Brwd1 A G 16: 95,848,620 (GRCm39) F520L probably damaging Het
Cdh5 A T 8: 104,864,449 (GRCm39) D470V probably damaging Het
Cdr2l A G 11: 115,281,378 (GRCm39) R41G probably damaging Het
Csrnp1 C T 9: 119,802,024 (GRCm39) C345Y probably damaging Het
Dscaml1 T A 9: 45,653,981 (GRCm39) Y1419* probably null Het
Epb41 A G 4: 131,691,439 (GRCm39) probably benign Het
Erg A G 16: 95,162,141 (GRCm39) S322P probably damaging Het
Fndc3b T A 3: 27,515,889 (GRCm39) H639L probably benign Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Kbtbd8 A G 6: 95,099,789 (GRCm39) N356D probably benign Het
Kif15 A G 9: 122,804,820 (GRCm39) E189G probably damaging Het
Kif2b T C 11: 91,467,849 (GRCm39) K145E possibly damaging Het
Kif5c A G 2: 49,625,569 (GRCm39) D613G probably benign Het
Lipe T G 7: 25,082,967 (GRCm39) Q457P probably damaging Het
Lrp1b A T 2: 40,750,726 (GRCm39) I2946N probably damaging Het
Mtf2 C T 5: 108,228,809 (GRCm39) P42S probably damaging Het
Neb A G 2: 52,066,804 (GRCm39) S5886P probably damaging Het
Nmu A G 5: 76,506,196 (GRCm39) probably null Het
Nup153 T C 13: 46,866,402 (GRCm39) E214G possibly damaging Het
Or14c44 A C 7: 86,061,759 (GRCm39) N104T probably damaging Het
Or6c66b G A 10: 129,376,410 (GRCm39) M1I probably null Het
Paqr3 T C 5: 97,243,796 (GRCm39) D306G probably benign Het
Plxna2 A G 1: 194,446,878 (GRCm39) D796G probably benign Het
Prkra A G 2: 76,460,780 (GRCm39) L306S probably damaging Het
Psg20 T A 7: 18,416,638 (GRCm39) E159D probably damaging Het
Ptchd3 G T 11: 121,721,246 (GRCm39) V40L probably benign Het
Rfx5 T C 3: 94,865,086 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,865,275 (GRCm39) probably null Het
Slc22a4 C A 11: 53,877,303 (GRCm39) probably null Het
Tars1 A G 15: 11,391,940 (GRCm39) V265A possibly damaging Het
Tatdn2 T A 6: 113,686,992 (GRCm39) probably null Het
Tenm4 C T 7: 96,378,592 (GRCm39) P399L probably damaging Het
Tmem135 A T 7: 88,800,646 (GRCm39) D325E probably damaging Het
Tmprss7 A T 16: 45,483,706 (GRCm39) I556N probably benign Het
Tom1l2 C T 11: 60,171,095 (GRCm39) G23S probably damaging Het
Ubr2 A G 17: 47,241,435 (GRCm39) probably benign Het
Vmn1r197 T C 13: 22,512,241 (GRCm39) I54T probably benign Het
Vmn2r116 T C 17: 23,603,903 (GRCm39) C43R probably damaging Het
Vps33a A G 5: 123,673,371 (GRCm39) L405P probably benign Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging Het
Other mutations in Entpd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
G1citation:Entpd3 UTSW 9 120,391,104 (GRCm39) critical splice donor site probably null
R0054:Entpd3 UTSW 9 120,386,608 (GRCm39) missense probably damaging 0.99
R0265:Entpd3 UTSW 9 120,387,547 (GRCm39) missense probably damaging 1.00
R0417:Entpd3 UTSW 9 120,386,487 (GRCm39) missense probably damaging 0.99
R0607:Entpd3 UTSW 9 120,386,471 (GRCm39) missense possibly damaging 0.63
R1028:Entpd3 UTSW 9 120,387,427 (GRCm39) missense probably benign 0.06
R1449:Entpd3 UTSW 9 120,395,555 (GRCm39) missense probably damaging 1.00
R1490:Entpd3 UTSW 9 120,383,225 (GRCm39) missense probably benign 0.03
R1846:Entpd3 UTSW 9 120,387,441 (GRCm39) missense probably benign 0.33
R1848:Entpd3 UTSW 9 120,387,485 (GRCm39) missense probably damaging 1.00
R2125:Entpd3 UTSW 9 120,384,720 (GRCm39) missense probably damaging 1.00
R3810:Entpd3 UTSW 9 120,391,068 (GRCm39) missense probably benign 0.00
R5101:Entpd3 UTSW 9 120,395,608 (GRCm39) makesense probably null
R5109:Entpd3 UTSW 9 120,395,380 (GRCm39) missense possibly damaging 0.95
R6822:Entpd3 UTSW 9 120,391,104 (GRCm39) critical splice donor site probably null
R6968:Entpd3 UTSW 9 120,389,722 (GRCm39) missense probably benign 0.01
R7107:Entpd3 UTSW 9 120,389,665 (GRCm39) missense probably damaging 1.00
R7132:Entpd3 UTSW 9 120,390,086 (GRCm39) missense probably benign 0.00
R7310:Entpd3 UTSW 9 120,389,821 (GRCm39) critical splice donor site probably null
R7776:Entpd3 UTSW 9 120,387,568 (GRCm39) missense probably damaging 1.00
R7831:Entpd3 UTSW 9 120,373,025 (GRCm39) missense probably damaging 1.00
R7871:Entpd3 UTSW 9 120,389,652 (GRCm39) missense possibly damaging 0.81
R8088:Entpd3 UTSW 9 120,383,239 (GRCm39) missense probably benign 0.08
R8121:Entpd3 UTSW 9 120,384,720 (GRCm39) missense probably damaging 1.00
R9010:Entpd3 UTSW 9 120,384,825 (GRCm39) missense probably benign 0.01
R9553:Entpd3 UTSW 9 120,387,546 (GRCm39) missense probably damaging 1.00
X0017:Entpd3 UTSW 9 120,384,815 (GRCm39) missense probably benign 0.41
X0024:Entpd3 UTSW 9 120,390,966 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18