Incidental Mutation 'R8951:Entpd1'
ID 681685
Institutional Source Beutler Lab
Gene Symbol Entpd1
Ensembl Gene ENSMUSG00000048120
Gene Name ectonucleoside triphosphate diphosphohydrolase 1
Synonyms 2610206B08Rik, ectoapyrase, NTPDase-1, Cd39
MMRRC Submission 068788-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8951 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 40600810-40730046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 40727319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 489 (N489T)
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: N460T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: N460T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:GDA1_CD39 1 217 4.6e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134063
AA Change: N489T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: N489T

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

DomainStartEndE-ValueType
Pfam:GDA1_CD39 40 281 6.1e-101 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 T C 11: 102,665,193 (GRCm39) probably null Het
Adcy6 A T 15: 98,502,140 (GRCm39) V158E possibly damaging Het
Adgrg3 T C 8: 95,761,362 (GRCm39) probably benign Het
Arsb T C 13: 93,944,124 (GRCm39) S272P probably damaging Het
Asb10 A C 5: 24,742,952 (GRCm39) C260W probably damaging Het
Atp13a1 A G 8: 70,246,484 (GRCm39) D158G probably benign Het
Bcl6 T C 16: 23,793,704 (GRCm39) E81G probably damaging Het
C7 A T 15: 5,032,231 (GRCm39) V660E probably benign Het
Cacna1c T C 6: 118,590,300 (GRCm39) D1401G probably damaging Het
Ccp110 A G 7: 118,321,015 (GRCm39) I223M possibly damaging Het
Cilp A G 9: 65,180,220 (GRCm39) E187G probably benign Het
Cmc2 T C 8: 117,637,904 (GRCm39) N15S probably damaging Het
Cnnm3 T A 1: 36,558,019 (GRCm39) probably benign Het
Col27a1 T G 4: 63,191,311 (GRCm39) M828R possibly damaging Het
Cpm C T 10: 117,511,938 (GRCm39) P294L probably damaging Het
Cpt1a G C 19: 3,412,211 (GRCm39) A228P probably benign Het
Ctbp1 A G 5: 33,416,679 (GRCm39) V43A probably damaging Het
Cylc2 A T 4: 51,229,469 (GRCm39) E270D unknown Het
Cyp46a1 A C 12: 108,312,348 (GRCm39) R119S possibly damaging Het
Dctn3 A T 4: 41,719,845 (GRCm39) I87N probably damaging Het
Dhdds C T 4: 133,719,857 (GRCm39) V25I possibly damaging Het
Fam110a T C 2: 151,812,461 (GRCm39) D103G probably damaging Het
Foxo6 T A 4: 120,125,133 (GRCm39) Q554L unknown Het
Gbp5 T A 3: 142,206,481 (GRCm39) M55K probably damaging Het
Gm20730 T C 6: 43,058,638 (GRCm39) Y58C possibly damaging Het
Grip1 T A 10: 119,874,509 (GRCm39) S679T possibly damaging Het
Gtdc1 A C 2: 44,679,030 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igha T A 12: 113,222,684 (GRCm39) N246Y Het
Ighg2b T A 12: 113,270,926 (GRCm39) T104S probably benign Het
Ighmbp2 C T 19: 3,318,726 (GRCm39) W450* probably null Het
Ipo11 T C 13: 106,978,690 (GRCm39) E839G possibly damaging Het
Iqce T C 5: 140,675,578 (GRCm39) D207G probably damaging Het
Irgm2 T C 11: 58,110,408 (GRCm39) V45A possibly damaging Het
Itga1 C T 13: 115,107,027 (GRCm39) W1021* probably null Het
Itga3 T C 11: 94,944,911 (GRCm39) Y799C probably damaging Het
Klf1 T C 8: 85,629,912 (GRCm39) S246P possibly damaging Het
Kras A T 6: 145,166,338 (GRCm39) M188K probably benign Het
Lacc1 C T 14: 77,272,613 (GRCm39) C61Y probably benign Het
Lect2 T A 13: 56,690,822 (GRCm39) probably benign Het
Leng9 G A 7: 4,152,782 (GRCm39) probably benign Het
Lhx9 A G 1: 138,769,704 (GRCm39) C6R probably damaging Het
Matn3 T A 12: 9,002,172 (GRCm39) I128K probably damaging Het
Ndst1 T C 18: 60,830,196 (GRCm39) E638G probably benign Het
Nell2 A T 15: 95,139,424 (GRCm39) C603S probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Oas1h T G 5: 121,000,657 (GRCm39) F89C probably damaging Het
Or4d10c A T 19: 12,066,056 (GRCm39) Y33* probably null Het
Or52l1 A G 7: 104,829,638 (GRCm39) V294A probably damaging Het
Or5b101 T A 19: 13,004,827 (GRCm39) S289C Het
Or5d45 C T 2: 88,153,975 (GRCm39) G25S probably damaging Het
P2ry2 G A 7: 100,647,228 (GRCm39) T359I probably damaging Het
Pbxip1 T A 3: 89,352,864 (GRCm39) V170E probably benign Het
Pcdhb20 T A 18: 37,639,146 (GRCm39) N557K probably damaging Het
Pdilt A G 7: 119,099,611 (GRCm39) V219A possibly damaging Het
Plec G T 15: 76,067,310 (GRCm39) S1149* probably null Het
Pnkp C T 7: 44,507,617 (GRCm39) T61I possibly damaging Het
Polr1f G T 12: 33,487,867 (GRCm39) E261* probably null Het
Prss56 T A 1: 87,115,749 (GRCm39) V541D probably damaging Het
Rab40c A G 17: 26,138,407 (GRCm39) V25A probably damaging Het
Rgs8 A T 1: 153,546,567 (GRCm39) H22L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Slc1a2 T C 2: 102,586,353 (GRCm39) V319A probably damaging Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Spata18 A T 5: 73,828,572 (GRCm39) I378F probably damaging Het
Speer1i T A 5: 11,092,799 (GRCm39) Y79* probably null Het
Stag1 T C 9: 100,762,854 (GRCm39) V485A probably damaging Het
Tas2r104 T A 6: 131,662,569 (GRCm39) I47F probably damaging Het
Thumpd1 A T 7: 119,317,471 (GRCm39) H143Q possibly damaging Het
Tmem231 T C 8: 112,640,697 (GRCm39) Q272R probably damaging Het
Tnfaip2 A G 12: 111,412,310 (GRCm39) D237G probably benign Het
Tox3 T C 8: 91,074,543 (GRCm39) D12G probably benign Het
Vmn1r1 A G 1: 181,985,309 (GRCm39) S119P probably damaging Het
Xrn1 A G 9: 95,870,999 (GRCm39) E608G probably benign Het
Zfp395 T C 14: 65,629,528 (GRCm39) C281R 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
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
W0251:Entpd1 UTSW 19 40,714,697 (GRCm39) missense probably damaging 0.96
Z1176:Entpd1 UTSW 19 40,727,408 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTCTAATGGTGAGGCTCCAAC -3'
(R):5'- CTCCAGCCAGCACATTTCAG -3'

Sequencing Primer
(F):5'- CCCCATCACTTCCAATTGTAGC -3'
(R):5'- AGCACATTTCAGCCGCTC -3'
Posted On 2021-08-31