Incidental Mutation 'R1518:Entpd1'
Institutional Source Beutler Lab
Gene Symbol Entpd1
Ensembl Gene ENSMUSG00000048120
Gene Nameectonucleoside triphosphate diphosphohydrolase 1
Synonyms2610206B08Rik, Cd39, ectoapyrase, NTPDase-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1518 (G1)
Quality Score225
Status Not validated
Chromosomal Location40612366-40741602 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 40725063 bp
Amino Acid Change Tyrosine to Stop codon at position 184 (Y184*)
Ref Sequence ENSEMBL: ENSMUSP00000116349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112231] [ENSMUST00000127828] [ENSMUST00000134063] [ENSMUST00000156598]
Predicted Effect probably null
Transcript: ENSMUST00000112231
AA Change: Y184*
SMART Domains Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: Y184*

Pfam:GDA1_CD39 40 471 7.8e-160 PFAM
transmembrane domain 477 499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127268
SMART Domains Protein: ENSMUSP00000116895
Gene: ENSMUSG00000048120

Pfam:GDA1_CD39 1 217 4.6e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127828
SMART Domains Protein: ENSMUSP00000117213
Gene: ENSMUSG00000048120

Pfam:GDA1_CD39 1 63 1.2e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000134063
AA Change: Y213*
SMART Domains Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: Y213*

Pfam:GDA1_CD39 69 500 6.9e-170 PFAM
transmembrane domain 506 528 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144080
Predicted Effect probably null
Transcript: ENSMUST00000156598
AA Change: Y184*
SMART Domains Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120
AA Change: Y184*

Pfam:GDA1_CD39 40 281 6.1e-101 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscle contraction, synaptic transmitter release and blood coagulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,275,369 M493L probably benign Het
Abtb2 G A 2: 103,709,284 V665I probably benign Het
Adamtsl1 C G 4: 86,342,603 S1017W probably damaging Het
Aebp1 A G 11: 5,871,469 T623A possibly damaging Het
Alox5 A G 6: 116,413,780 F470S probably damaging Het
Angpt2 T C 8: 18,705,839 E204G probably benign Het
Apip A G 2: 103,089,493 E138G probably damaging Het
Apob C T 12: 7,989,207 T466M probably benign Het
Atp2b3 GACAACA GACA X: 73,545,123 probably benign Het
Atxn7l3 A T 11: 102,294,514 D56E probably benign Het
Cacna1s C T 1: 136,098,551 A1092V probably damaging Het
Calr3 A G 8: 72,427,200 F183L probably damaging Het
Cd300lb T A 11: 114,926,051 D55V probably benign Het
Chid1 A C 7: 141,528,471 V145G probably damaging Het
Chst15 T C 7: 132,270,126 N142S probably damaging Het
Cnot4 C T 6: 35,051,454 R409Q probably damaging Het
Cope T G 8: 70,312,761 I287S possibly damaging Het
Cpd A T 11: 76,840,386 probably null Het
Cux1 G T 5: 136,308,279 T785K probably benign Het
Dthd1 T C 5: 62,822,040 S348P probably damaging Het
Eno3 G T 11: 70,661,077 E64* probably null Het
Erv3 A T 2: 131,856,163 M92K probably benign Het
Flg2 T A 3: 93,203,138 H824Q unknown Het
Fndc9 G A 11: 46,238,103 G150S probably benign Het
Gdap1 G A 1: 17,146,945 V43I possibly damaging Het
Ifi213 C A 1: 173,589,663 L394F probably damaging Het
Ift88 A G 14: 57,430,628 T29A possibly damaging Het
Kdm4c A T 4: 74,333,826 I437L probably benign Het
Kras T A 6: 145,232,251 E98D probably benign Het
Lcorl C A 5: 45,734,201 R353I possibly damaging Het
Lrrc4c A G 2: 97,630,576 I516V probably benign Het
Lrrc51 T C 7: 101,915,596 D85G probably damaging Het
Lypd6b G A 2: 49,947,492 A159T probably damaging Het
Magel2 G A 7: 62,380,440 V1031I unknown Het
Man1c1 A T 4: 134,580,789 N338K probably benign Het
Mdn1 C A 4: 32,739,977 Q3744K probably damaging Het
Micu3 G T 8: 40,335,852 A135S possibly damaging Het
Muc4 T C 16: 32,750,349 S76P possibly damaging Het
Nin T G 12: 70,014,773 T2106P probably benign Het
Nlrp4e T C 7: 23,321,843 I585T probably benign Het
Npy1r C T 8: 66,704,195 A89V probably benign Het
Olfr1136 A T 2: 87,693,528 M118K probably damaging Het
Olfr1220 G A 2: 89,097,600 A109V probably benign Het
Olfr608 T A 7: 103,470,042 M1K probably null Het
Olfr665 T A 7: 104,881,308 Y200* probably null Het
Olfr743 T C 14: 50,534,165 V251A probably damaging Het
Parp14 T G 16: 35,856,638 T987P possibly damaging Het
Pde7b A T 10: 20,548,121 V3E probably damaging Het
Pdlim7 G T 13: 55,508,294 Y104* probably null Het
Pgm2l1 A G 7: 100,261,725 K292R probably benign Het
Plec T C 15: 76,188,201 E728G probably damaging Het
Plppr4 T C 3: 117,335,503 Y105C probably damaging Het
Polr1c A T 17: 46,247,895 N23K possibly damaging Het
Ppp5c A T 7: 17,009,936 M191K probably damaging Het
Prkca T C 11: 107,978,316 D57G probably damaging Het
Prkcb A G 7: 122,544,631 probably null Het
Prl6a1 C A 13: 27,318,927 Q169K possibly damaging Het
Prl6a1 A T 13: 27,318,928 Q169L probably null Het
Psmd14 G A 2: 61,760,991 R46H probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ramp2 A G 11: 101,247,582 T22A probably benign Het
Rbm25 A T 12: 83,668,445 E463D possibly damaging Het
Retnlb A G 16: 48,817,315 I35V probably benign Het
Sestd1 A G 2: 77,241,632 Y49H probably damaging Het
Setd2 T A 9: 110,602,238 I2378N probably damaging Het
Slc26a1 A T 5: 108,671,874 C486* probably null Het
Spef2 T A 15: 9,667,230 I791F probably damaging Het
Sptb T C 12: 76,604,024 T1726A possibly damaging Het
St5 A G 7: 109,557,355 S63P probably damaging Het
Stk38l T A 6: 146,771,631 M296K probably benign Het
Taf5 T C 19: 47,081,846 F624L probably damaging Het
Tmem30c G T 16: 57,266,492 T316K probably damaging Het
Trpm2 A G 10: 77,943,005 S376P possibly damaging Het
Vmn2r82 A T 10: 79,378,868 L228F probably damaging Het
Zfp607b G A 7: 27,698,662 C57Y possibly damaging Het
Zfp983 A G 17: 21,662,353 H399R probably damaging Het
Zfp984 A T 4: 147,755,545 M283K probably benign Het
Other mutations in Entpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Entpd1 APN 19 40711270 missense probably benign 0.21
IGL02624:Entpd1 APN 19 40726058 nonsense probably null
IGL02893:Entpd1 APN 19 40727517 missense probably damaging 0.99
R0413:Entpd1 UTSW 19 40711285 missense probably benign
R0626:Entpd1 UTSW 19 40727325 missense probably benign 0.36
R0666:Entpd1 UTSW 19 40659906 splice site probably benign
R1460:Entpd1 UTSW 19 40726188 missense probably damaging 1.00
R1710:Entpd1 UTSW 19 40726236 missense probably benign 0.00
R1757:Entpd1 UTSW 19 40739006 missense probably benign 0.01
R1759:Entpd1 UTSW 19 40612524 critical splice donor site probably null
R2143:Entpd1 UTSW 19 40736783 missense probably damaging 1.00
R3876:Entpd1 UTSW 19 40736820 missense probably damaging 1.00
R4937:Entpd1 UTSW 19 40739521 unclassified probably benign
R5082:Entpd1 UTSW 19 40725029 unclassified probably null
R5764:Entpd1 UTSW 19 40738973 intron probably null
R5906:Entpd1 UTSW 19 40738839 missense probably damaging 1.00
R6052:Entpd1 UTSW 19 40720484 missense probably damaging 1.00
W0251:Entpd1 UTSW 19 40726253 missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- CAGGGcaaacaaacaaacaaac -3'
Posted On2014-04-13