Incidental Mutation 'R3876:Entpd1'
ID 276873
Institutional Source Beutler Lab
Gene Symbol Entpd1
Ensembl Gene ENSMUSG00000048120
Gene Name ectonucleoside triphosphate diphosphohydrolase 1
Synonyms 2610206B08Rik, Cd39, ectoapyrase, NTPDase-1
MMRRC Submission 041606-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3876 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 40612366-40741602 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40736820 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 450 (L450P)
Ref Sequence ENSEMBL: ENSMUSP00000116285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112231] [ENSMUST00000134063] [ENSMUST00000156598]
AlphaFold P55772
Predicted Effect probably damaging
Transcript: ENSMUST00000112231
AA Change: L421P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: L421P

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 damaging
Transcript: ENSMUST00000134063
AA Change: L450P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: L450P

Pfam:GDA1_CD39 69 500 6.9e-170 PFAM
transmembrane domain 506 528 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151726
Predicted Effect probably benign
Transcript: ENSMUST00000156598
SMART Domains Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120

Pfam:GDA1_CD39 40 281 6.1e-101 PFAM
Meta Mutation Damage Score 0.9584 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (53/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,591,400 (GRCm38) R215* probably null Het
Brinp2 C A 1: 158,246,846 (GRCm38) L568F probably damaging Het
Brip1 T C 11: 86,152,790 (GRCm38) Y316C probably damaging Het
Cdk5rap2 ATGTG ATG 4: 70,289,977 (GRCm38) probably null Het
Cfap69 G T 5: 5,584,645 (GRCm38) probably benign Het
Chrnb4 T C 9: 55,043,898 (GRCm38) E27G probably damaging Het
Clec14a A G 12: 58,268,644 (GRCm38) V64A possibly damaging Het
Crygs A G 16: 22,806,512 (GRCm38) Y60H probably damaging Het
Dpp10 T A 1: 123,353,487 (GRCm38) Q611L probably damaging Het
Eogt G A 6: 97,120,190 (GRCm38) S317L probably damaging Het
Exosc10 T A 4: 148,572,919 (GRCm38) S584T probably benign Het
Fam184a C T 10: 53,699,061 (GRCm38) V151I probably damaging Het
Fbxo43 A G 15: 36,152,112 (GRCm38) V517A probably damaging Het
Flii T C 11: 60,719,872 (GRCm38) T533A possibly damaging Het
Frmpd1 T G 4: 45,284,093 (GRCm38) H971Q probably benign Het
Gata3 A T 2: 9,863,143 (GRCm38) N333K probably damaging Het
Hectd1 A G 12: 51,768,730 (GRCm38) S1525P probably damaging Het
Ibtk A G 9: 85,718,426 (GRCm38) I816T probably benign Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Krt34 T C 11: 100,040,965 (GRCm38) T143A probably benign Het
Lipn G T 19: 34,069,428 (GRCm38) M43I probably benign Het
Lrp1b A G 2: 41,445,194 (GRCm38) C779R probably damaging Het
Mios G A 6: 8,233,189 (GRCm38) R779Q probably damaging Het
Mme A T 3: 63,362,059 (GRCm38) probably benign Het
Ncstn A G 1: 172,070,073 (GRCm38) S418P probably benign Het
Olfr1209 T C 2: 88,909,608 (GRCm38) T262A possibly damaging Het
Olfr1285 T C 2: 111,408,622 (GRCm38) V69A possibly damaging Het
Olfr5 G A 7: 6,481,132 (GRCm38) A8V probably benign Het
Olfr800 C T 10: 129,660,274 (GRCm38) P156L probably benign Het
Olfr934 T A 9: 38,982,870 (GRCm38) Y58F probably damaging Het
Oprk1 T A 1: 5,602,661 (GRCm38) C340* probably null Het
Pald1 T A 10: 61,347,487 (GRCm38) N323Y probably damaging Het
Pcdhac1 C A 18: 37,091,892 (GRCm38) A586E probably damaging Het
Pcnx2 C T 8: 125,888,158 (GRCm38) A185T probably benign Het
Pik3r1 G A 13: 101,684,957 (GRCm38) H430Y probably benign Het
Polr3b G A 10: 84,720,518 (GRCm38) probably null Het
Prl8a6 A T 13: 27,433,032 (GRCm38) L225* probably null Het
Psme4 T C 11: 30,856,068 (GRCm38) S89P probably damaging Het
Pygl G A 12: 70,201,339 (GRCm38) T250I probably damaging Het
Rgs13 T A 1: 144,140,790 (GRCm38) K72* probably null Het
Ryr2 T A 13: 11,588,159 (GRCm38) I4514F probably damaging Het
Sept3 A T 15: 82,285,801 (GRCm38) D32V probably damaging Het
Sfrp2 C T 3: 83,767,028 (GRCm38) P163S possibly damaging Het
Spata31 A G 13: 64,920,931 (GRCm38) T298A probably benign Het
Stxbp2 T C 8: 3,633,369 (GRCm38) probably null Het
Syne1 A T 10: 5,052,345 (GRCm38) M282K possibly damaging Het
Timd2 T C 11: 46,671,020 (GRCm38) probably null Het
Tlr11 G A 14: 50,363,154 (GRCm38) V866I probably benign Het
Trappc10 T C 10: 78,220,186 (GRCm38) probably null Het
Zfp512b AG AGG 2: 181,588,763 (GRCm38) probably null Het
Other mutations in Entpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Entpd1 APN 19 40,711,270 (GRCm38) missense probably benign 0.21
IGL02624:Entpd1 APN 19 40,726,058 (GRCm38) nonsense probably null
IGL02893:Entpd1 APN 19 40,727,517 (GRCm38) missense probably damaging 0.99
R0413:Entpd1 UTSW 19 40,711,285 (GRCm38) missense probably benign
R0626:Entpd1 UTSW 19 40,727,325 (GRCm38) missense probably benign 0.36
R0666:Entpd1 UTSW 19 40,659,906 (GRCm38) splice site probably benign
R1460:Entpd1 UTSW 19 40,726,188 (GRCm38) missense probably damaging 1.00
R1518:Entpd1 UTSW 19 40,725,063 (GRCm38) nonsense probably null
R1710:Entpd1 UTSW 19 40,726,236 (GRCm38) missense probably benign 0.00
R1757:Entpd1 UTSW 19 40,739,006 (GRCm38) missense probably benign 0.01
R1759:Entpd1 UTSW 19 40,612,524 (GRCm38) critical splice donor site probably null
R2143:Entpd1 UTSW 19 40,736,783 (GRCm38) missense probably damaging 1.00
R4937:Entpd1 UTSW 19 40,739,521 (GRCm38) unclassified probably benign
R5082:Entpd1 UTSW 19 40,725,029 (GRCm38) splice site probably null
R5764:Entpd1 UTSW 19 40,738,973 (GRCm38) splice site probably null
R5906:Entpd1 UTSW 19 40,738,839 (GRCm38) missense probably damaging 1.00
R6052:Entpd1 UTSW 19 40,720,484 (GRCm38) missense probably damaging 1.00
R7154:Entpd1 UTSW 19 40,724,986 (GRCm38) missense probably damaging 0.99
R7408:Entpd1 UTSW 19 40,738,865 (GRCm38) missense possibly damaging 0.50
R7814:Entpd1 UTSW 19 40,727,447 (GRCm38) missense probably damaging 1.00
R7976:Entpd1 UTSW 19 40,612,421 (GRCm38) start codon destroyed probably null 0.00
R8438:Entpd1 UTSW 19 40,736,780 (GRCm38) missense possibly damaging 0.67
R8951:Entpd1 UTSW 19 40,738,875 (GRCm38) missense probably damaging 1.00
R9126:Entpd1 UTSW 19 40,726,164 (GRCm38) missense possibly damaging 0.76
R9798:Entpd1 UTSW 19 40,727,345 (GRCm38) missense possibly damaging 0.81
W0251:Entpd1 UTSW 19 40,726,253 (GRCm38) missense probably damaging 0.96
Z1176:Entpd1 UTSW 19 40,738,964 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-06