Incidental Mutation 'R8438:Entpd1'
ID 654129
Institutional Source Beutler Lab
Gene Symbol Entpd1
Ensembl Gene ENSMUSG00000048120
Gene Name ectonucleoside triphosphate diphosphohydrolase 1
Synonyms 2610206B08Rik, ectoapyrase, NTPDase-1, Cd39
MMRRC Submission 067778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8438 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 40600810-40730046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40725224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 437 (K437E)
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: K408E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: K408E

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 possibly damaging
Transcript: ENSMUST00000134063
AA Change: K437E

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: K437E

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,201,962 (GRCm39) probably null Het
5730480H06Rik A T 5: 48,534,425 (GRCm39) H95L probably damaging Het
Abca8a A G 11: 109,966,404 (GRCm39) Y410H probably damaging Het
Abcb4 G A 5: 8,996,120 (GRCm39) probably null Het
Adam8 C T 7: 139,565,249 (GRCm39) probably null Het
Aldh1l1 C T 6: 90,536,428 (GRCm39) P111L probably damaging Het
Baz2b G T 2: 59,747,828 (GRCm39) Y1278* probably null Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Casp9 C A 4: 141,540,934 (GRCm39) T434N probably benign Het
Cd19 C A 7: 126,013,515 (GRCm39) M91I possibly damaging Het
Celsr2 G A 3: 108,301,139 (GRCm39) T2718M probably damaging Het
Clptm1 G T 7: 19,379,776 (GRCm39) D153E probably benign Het
Col1a2 G A 6: 4,515,517 (GRCm39) G127S unknown Het
Col1a2 G T 6: 4,515,518 (GRCm39) G127V unknown Het
Crybg3 A G 16: 59,385,655 (GRCm39) S190P probably benign Het
Ddrgk1 G A 2: 130,505,302 (GRCm39) probably benign Het
Dennd1a T C 2: 37,746,150 (GRCm39) H402R probably benign Het
Dgat2 T C 7: 98,806,207 (GRCm39) Y330C probably damaging Het
Dnah7b G A 1: 46,227,839 (GRCm39) C1354Y probably damaging Het
Ecd T A 14: 20,388,533 (GRCm39) I119L possibly damaging Het
Fcgbp C T 7: 27,789,231 (GRCm39) A599V probably benign Het
Gtf3c1 G T 7: 125,241,701 (GRCm39) S1999* probably null Het
Hesx1 C T 14: 26,723,460 (GRCm39) R97C probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hoxb3 A G 11: 96,236,609 (GRCm39) N229S probably benign Het
Itpk1 G A 12: 102,572,418 (GRCm39) probably benign Het
Itprid1 C T 6: 55,874,878 (GRCm39) S276L probably damaging Het
Masp1 T C 16: 23,289,153 (GRCm39) D549G probably benign Het
Mef2c A G 13: 83,804,336 (GRCm39) E312G probably damaging Het
Morn5 A G 2: 35,945,076 (GRCm39) K100R probably benign Het
Mphosph9 A T 5: 124,430,455 (GRCm39) D610E probably benign Het
Obox6 G C 7: 15,567,853 (GRCm39) A198G probably damaging Het
Or2t43 A T 11: 58,457,665 (GRCm39) S169T possibly damaging Het
Or4a75 C T 2: 89,448,054 (GRCm39) V161M possibly damaging Het
Or4a80 A T 2: 89,583,061 (GRCm39) M37K probably damaging Het
Or6b13 C A 7: 139,782,170 (GRCm39) C171F probably damaging Het
Pcdhgb2 A G 18: 37,825,232 (GRCm39) N741S probably benign Het
Plekhh2 A G 17: 84,877,379 (GRCm39) N575D probably benign Het
Plxna4 C A 6: 32,179,115 (GRCm39) G967W probably damaging Het
Ppp3cb C T 14: 20,565,658 (GRCm39) M373I probably damaging Het
Sec14l2 C A 11: 4,059,202 (GRCm39) E156* probably null Het
Srrt A T 5: 137,301,262 (GRCm39) Y55N unknown Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Thada G A 17: 84,743,057 (GRCm39) T789I probably damaging Het
Top3b G T 16: 16,709,364 (GRCm39) S684I probably benign Het
Trpc4 A G 3: 54,129,674 (GRCm39) I147V possibly damaging Het
Tubgcp5 T A 7: 55,454,363 (GRCm39) H219Q possibly damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn1r31 T A 6: 58,449,646 (GRCm39) D73V Het
Wasf3 A T 5: 146,390,237 (GRCm39) Q127L probably benign Het
Xpo6 T C 7: 125,760,054 (GRCm39) T182A possibly damaging Het
Xpo7 C A 14: 70,940,672 (GRCm39) R139S probably benign Het
Zfp687 A T 3: 94,915,433 (GRCm39) S1058T probably benign Het
Zfp786 T C 6: 47,796,934 (GRCm39) E668G probably damaging Het
Zfp831 A T 2: 174,486,796 (GRCm39) R490S possibly 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
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
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'- GGGAGACTTGAACTTAAAACCCTG -3'
(R):5'- TGGACACCCACCTCTTCTAAG -3'

Sequencing Primer
(F):5'- TTAAAACCCTGTGGCCTCTGAAGG -3'
(R):5'- GTTCAAGACTGCTTTGTTACCAAC -3'
Posted On 2020-10-20