Incidental Mutation 'W0251:Entpd1'
ID 166617
Institutional Source Beutler Lab
Gene Symbol Entpd1
Ensembl Gene ENSMUSG00000048120
Gene Name ectonucleoside triphosphate diphosphohydrolase 1
Synonyms 2610206B08Rik, ectoapyrase, NTPDase-1, Cd39
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # W0251 (G3R) of strain daniel_gray
Quality Score 222
Status Not validated
Chromosome 19
Chromosomal Location 40600810-40730046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40714697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 269 (I269F)
Ref Sequence ENSEMBL: ENSMUSP00000107850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112231] [ENSMUST00000127828] [ENSMUST00000134063] [ENSMUST00000156598]
AlphaFold P55772
Predicted Effect probably damaging
Transcript: ENSMUST00000112231
AA Change: I269F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: I269F

DomainStartEndE-ValueType
Pfam:GDA1_CD39 40 471 7.8e-160 PFAM
transmembrane domain 477 499 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000127268
AA Change: I68F
SMART Domains Protein: ENSMUSP00000116895
Gene: ENSMUSG00000048120
AA Change: I68F

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

DomainStartEndE-ValueType
Pfam:GDA1_CD39 1 63 1.2e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134063
AA Change: I298F

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: I298F

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000156598
AA Change: I269F

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120
AA Change: I269F

DomainStartEndE-ValueType
Pfam:GDA1_CD39 40 281 6.1e-101 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.3%
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl2a1b T A 9: 89,081,636 (GRCm39) M75K probably damaging Het
Btaf1 G A 19: 36,980,904 (GRCm39) R1575H probably damaging Het
Cfap46 T C 7: 139,183,862 (GRCm39) M2507V probably benign Het
Dcc T C 18: 71,959,154 (GRCm39) D206G probably damaging Het
Dnah6 T A 6: 73,155,501 (GRCm39) I705F possibly damaging Het
Gm4559 G C 7: 141,827,535 (GRCm39) A189G unknown Het
Ipo5 T A 14: 121,176,197 (GRCm39) M648K probably benign Het
Kdelr1 A G 7: 45,531,045 (GRCm39) Y96C probably damaging Het
Mmp17 C T 5: 129,672,591 (GRCm39) A181V probably benign Het
Muc20 T C 16: 32,614,223 (GRCm39) I385V possibly damaging Het
Or13c7 C T 4: 43,855,058 (GRCm39) L250F probably benign Het
Pik3r6 A G 11: 68,424,697 (GRCm39) Y434C probably benign Het
Pura T C 18: 36,420,843 (GRCm39) V210A probably benign Het
Spic C T 10: 88,515,766 (GRCm39) D19N probably damaging Het
Other mutations in Entpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Entpd1 APN 19 40,699,714 (GRCm39) missense probably benign 0.21
IGL02624:Entpd1 APN 19 40,714,502 (GRCm39) nonsense probably null
IGL02893:Entpd1 APN 19 40,715,961 (GRCm39) missense probably damaging 0.99
R0413:Entpd1 UTSW 19 40,699,729 (GRCm39) missense probably benign
R0626:Entpd1 UTSW 19 40,715,769 (GRCm39) missense probably benign 0.36
R0666:Entpd1 UTSW 19 40,648,350 (GRCm39) splice site probably benign
R1460:Entpd1 UTSW 19 40,714,632 (GRCm39) missense probably damaging 1.00
R1518:Entpd1 UTSW 19 40,713,507 (GRCm39) nonsense probably null
R1710:Entpd1 UTSW 19 40,714,680 (GRCm39) missense probably benign 0.00
R1757:Entpd1 UTSW 19 40,727,450 (GRCm39) missense probably benign 0.01
R1759:Entpd1 UTSW 19 40,600,968 (GRCm39) critical splice donor site probably null
R2143:Entpd1 UTSW 19 40,725,227 (GRCm39) missense probably damaging 1.00
R3876:Entpd1 UTSW 19 40,725,264 (GRCm39) missense probably damaging 1.00
R4937:Entpd1 UTSW 19 40,727,965 (GRCm39) unclassified probably benign
R5082:Entpd1 UTSW 19 40,713,473 (GRCm39) splice site probably null
R5764:Entpd1 UTSW 19 40,727,417 (GRCm39) splice site probably null
R5906:Entpd1 UTSW 19 40,727,283 (GRCm39) missense probably damaging 1.00
R6052:Entpd1 UTSW 19 40,708,928 (GRCm39) missense probably damaging 1.00
R7154:Entpd1 UTSW 19 40,713,430 (GRCm39) missense probably damaging 0.99
R7408:Entpd1 UTSW 19 40,727,309 (GRCm39) missense possibly damaging 0.50
R7814:Entpd1 UTSW 19 40,715,891 (GRCm39) missense probably damaging 1.00
R7976:Entpd1 UTSW 19 40,600,865 (GRCm39) start codon destroyed probably null 0.00
R8438:Entpd1 UTSW 19 40,725,224 (GRCm39) missense possibly damaging 0.67
R8951:Entpd1 UTSW 19 40,727,319 (GRCm39) missense probably damaging 1.00
R9126:Entpd1 UTSW 19 40,714,608 (GRCm39) missense possibly damaging 0.76
R9798:Entpd1 UTSW 19 40,715,789 (GRCm39) missense possibly damaging 0.81
Z1176:Entpd1 UTSW 19 40,727,408 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GACTTTGAGCAACTCTCTGTCCCTG -3'
(R):5'- ACATAAATGGTCACGGCTTCCCC -3'

Sequencing Primer
(F):5'- GATGTCCAGAGACTTCTAGCACTG -3'
(R):5'- GTGTCCTTGGAGATAGTACAGTAAAC -3'
Posted On 2014-04-13