Incidental Mutation 'R7871:Entpd3'
ID608118
Institutional Source Beutler Lab
Gene Symbol Entpd3
Ensembl Gene ENSMUSG00000041608
Gene Nameectonucleoside triphosphate diphosphohydrolase 3
SynonymsHB6, Cd39l3, NTPDase-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #R7871 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location120539818-120568327 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120560586 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 313 (R313G)
Ref Sequence ENSEMBL: ENSMUSP00000036830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047687]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047687
AA Change: R313G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036830
Gene: ENSMUSG00000041608
AA Change: R313G

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:GDA1_CD39 49 483 4.3e-102 PFAM
transmembrane domain 486 508 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no deficits in nucleotide hydrolysis or alterations in nociceptive behaviors except for a modest reduction in beta-alanine-mediated itch behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,183,226 S1041P probably benign Het
Aatf ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACACAC 11: 84,471,038 probably null Het
Arpin A T 7: 79,927,715 W195R probably damaging Het
Asap1 A G 15: 64,092,076 V1091A probably damaging Het
Asxl3 A G 18: 22,524,224 T1764A not run Het
Bmp7 C A 2: 172,939,991 A27S probably benign Het
Ccnh T A 13: 85,211,872 Y297* probably null Het
Ccno C A 13: 112,988,113 D72E probably benign Het
Cd70 T G 17: 57,148,770 T67P probably damaging Het
Chml CTGTTTG CTG 1: 175,687,400 probably null Het
Chst4 A G 8: 110,030,913 F106S probably damaging Het
Cntnap3 A C 13: 64,903,773 L23R probably benign Het
Crybg2 T A 4: 134,087,599 L1288H probably damaging Het
Cyfip2 T C 11: 46,242,350 H841R probably damaging Het
Cyp2c39 T C 19: 39,560,961 Y308H possibly damaging Het
Cyp4f18 G A 8: 71,988,643 P498S possibly damaging Het
Dennd1b G A 1: 139,062,873 E192K probably damaging Het
Dnah3 T A 7: 119,967,552 I97F Het
Erg28 G A 12: 85,819,479 T75I probably damaging Het
Fam171a1 A G 2: 3,225,384 H518R probably benign Het
Fam50b G A 13: 34,747,101 E187K possibly damaging Het
Galntl6 T C 8: 57,837,188 E457G probably damaging Het
Glt8d1 A T 14: 31,010,339 H192L probably damaging Het
Gm15446 T A 5: 109,943,299 C472* probably null Het
Gm28363 A T 1: 117,697,498 M1L unknown Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,817 probably benign Het
Gstp3 T A 19: 4,058,746 K45* probably null Het
Hsd17b13 A G 5: 103,965,815 F258L possibly damaging Het
Htt T C 5: 34,864,649 S1646P probably benign Het
Ipo11 T C 13: 106,892,468 M326V probably benign Het
Itpr3 T A 17: 27,117,179 I2293N probably damaging Het
Kntc1 T A 5: 123,784,227 L963H probably damaging Het
Lyst T A 13: 13,636,052 L769* probably null Het
Map3k13 A G 16: 21,921,596 S558G probably benign Het
Mbd1 G A 18: 74,274,057 probably null Het
Mep1a T C 17: 43,479,235 N408D probably benign Het
Mtrf1 A G 14: 79,406,938 T229A probably benign Het
Muc4 C T 16: 32,754,935 S1603L unknown Het
Myo1b A C 1: 51,779,580 I512S possibly damaging Het
N4bp2 A G 5: 65,807,103 I832V probably benign Het
Nadsyn1 T A 7: 143,798,496 K618* probably null Het
Ncstn T C 1: 172,075,456 D87G probably benign Het
Neurl4 T C 11: 69,903,186 V156A probably benign Het
Nfasc C A 1: 132,600,013 G885V not run Het
Nox4 A T 7: 87,314,127 Y180F possibly damaging Het
Nuggc A G 14: 65,623,251 T449A probably benign Het
Olfr799 A G 10: 129,647,412 I95V probably benign Het
Pik3r4 T C 9: 105,663,117 S735P probably damaging Het
Ppp1r9b T C 11: 95,001,909 I645T probably damaging Het
Rras2 G A 7: 114,117,548 probably benign Het
Rtel1 T C 2: 181,321,029 M25T probably damaging Het
Serpinb3c T A 1: 107,273,153 Y178F possibly damaging Het
Sh3bp2 A G 5: 34,559,085 H280R not run Het
Six4 CT C 12: 73,104,239 probably benign Het
Skor1 T C 9: 63,146,501 E62G probably damaging Het
Slc22a22 T A 15: 57,263,355 N106I possibly damaging Het
Slc44a4 T A 17: 34,923,852 probably null Het
Sptbn2 C G 19: 4,749,012 R2037G probably benign Het
Stx5a T A 19: 8,755,118 W384R unknown Het
Topaz1 A G 9: 122,780,700 Y1111C possibly damaging Het
Ttbk1 T A 17: 46,446,238 M1157L probably benign Het
Ttn T C 2: 76,717,215 T32204A probably benign Het
Ttn T C 2: 76,748,145 T24135A probably damaging Het
Ttn T C 2: 76,965,137 E632G unknown Het
Vmn2r109 T C 17: 20,540,520 I858M probably benign Het
Vmn2r71 A T 7: 85,623,661 Q561L possibly damaging Het
Yme1l1 A G 2: 23,181,065 D271G probably damaging Het
Zfp629 A G 7: 127,611,995 F214S probably damaging Het
Zfp709 A G 8: 71,889,464 I246V probably benign Het
Other mutations in Entpd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Entpd3 APN 9 120561941 missense probably damaging 1.00
R0054:Entpd3 UTSW 9 120557542 missense probably damaging 0.99
R0265:Entpd3 UTSW 9 120558481 missense probably damaging 1.00
R0417:Entpd3 UTSW 9 120557421 missense probably damaging 0.99
R0607:Entpd3 UTSW 9 120557405 missense possibly damaging 0.63
R1028:Entpd3 UTSW 9 120558361 missense probably benign 0.06
R1449:Entpd3 UTSW 9 120566489 missense probably damaging 1.00
R1490:Entpd3 UTSW 9 120554159 missense probably benign 0.03
R1846:Entpd3 UTSW 9 120558375 missense probably benign 0.33
R1848:Entpd3 UTSW 9 120558419 missense probably damaging 1.00
R2125:Entpd3 UTSW 9 120555654 missense probably damaging 1.00
R3810:Entpd3 UTSW 9 120562002 missense probably benign 0.00
R5101:Entpd3 UTSW 9 120566542 makesense probably null
R5109:Entpd3 UTSW 9 120566314 missense possibly damaging 0.95
R6822:Entpd3 UTSW 9 120562038 critical splice donor site probably null
R6968:Entpd3 UTSW 9 120560656 missense probably benign 0.01
R7107:Entpd3 UTSW 9 120560599 missense probably damaging 1.00
R7132:Entpd3 UTSW 9 120561020 missense probably benign 0.00
R7310:Entpd3 UTSW 9 120560755 critical splice donor site probably null
R7776:Entpd3 UTSW 9 120558502 missense probably damaging 1.00
R7831:Entpd3 UTSW 9 120543959 missense probably damaging 1.00
R7914:Entpd3 UTSW 9 120543959 missense probably damaging 1.00
R7954:Entpd3 UTSW 9 120560586 missense possibly damaging 0.81
X0017:Entpd3 UTSW 9 120555749 missense probably benign 0.41
X0024:Entpd3 UTSW 9 120561900 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTTGTCTGGCAGCAGCAC -3'
(R):5'- GCTAACTGGCCTCTTACCAC -3'

Sequencing Primer
(F):5'- CCTTGGCATCGCAAGGTAGTG -3'
(R):5'- CAAATGGCCCTTGAACCTTGG -3'
Posted On2019-12-20