Incidental Mutation 'R5752:Entpd2'
ID 444825
Institutional Source Beutler Lab
Gene Symbol Entpd2
Ensembl Gene ENSMUSG00000015085
Gene Name ectonucleoside triphosphate diphosphohydrolase 2
Synonyms NTPDase2, Cd39l1
MMRRC Submission 043357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5752 (G1)
Quality Score 203
Status Validated
Chromosome 2
Chromosomal Location 25285886-25291333 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 25289781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028328] [ENSMUST00000055921] [ENSMUST00000071442] [ENSMUST00000154809] [ENSMUST00000141567]
AlphaFold O55026
Predicted Effect probably benign
Transcript: ENSMUST00000028328
SMART Domains Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:GDA1_CD39 32 459 9.7e-104 PFAM
low complexity region 465 483 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055921
SMART Domains Protein: ENSMUSP00000049602
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 341 9.1e-234 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071442
SMART Domains Protein: ENSMUSP00000071387
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 332 7.2e-217 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144413
Predicted Effect probably benign
Transcript: ENSMUST00000154809
SMART Domains Protein: ENSMUSP00000123386
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 142 1.8e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141567
SMART Domains Protein: ENSMUSP00000116275
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 231 7.8e-141 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
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 the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display smaller circumvallate papilla size and reduced neural responses to taste stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik C A 17: 47,200,966 (GRCm39) probably benign Het
Aldh1l2 C A 10: 83,356,244 (GRCm39) G49C probably damaging Het
Arhgap26 G A 18: 39,419,725 (GRCm39) E11K probably damaging Het
Asns C T 6: 7,689,365 (GRCm39) G46S probably damaging Het
Atrn G T 2: 130,748,464 (GRCm39) probably benign Het
Cep126 A C 9: 8,120,746 (GRCm39) Y92* probably null Het
Cfap69 T C 5: 5,639,204 (GRCm39) T567A probably damaging Het
Clgn T A 8: 84,123,670 (GRCm39) Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 (GRCm39) K793N possibly damaging Het
Cxcl9 C A 5: 92,471,715 (GRCm39) M108I probably benign Het
Cyp4f37 A T 17: 32,850,306 (GRCm39) I318F probably damaging Het
Daam1 T C 12: 71,993,320 (GRCm39) M363T unknown Het
Dnajc13 A C 9: 104,069,973 (GRCm39) probably null Het
F3 T A 3: 121,526,053 (GRCm39) N205K probably damaging Het
Fat2 A T 11: 55,180,063 (GRCm39) F1426Y possibly damaging Het
Galnt6 A T 15: 100,602,007 (GRCm39) F267I probably damaging Het
Gm1322 G A 2: 67,014,979 (GRCm39) noncoding transcript Het
Hdgfl3 A C 7: 81,549,451 (GRCm39) S143A possibly damaging Het
Ints7 T A 1: 191,308,005 (GRCm39) D12E probably benign Het
Kank3 A G 17: 34,037,037 (GRCm39) T114A probably benign Het
Lrp1b A G 2: 41,185,624 (GRCm39) Y1364H probably damaging Het
Mef2b A G 8: 70,618,267 (GRCm39) T116A possibly damaging Het
Megf8 C T 7: 25,054,539 (GRCm39) T1885I probably damaging Het
Mrps11 A G 7: 78,433,343 (GRCm39) K30E probably benign Het
Naca T A 10: 127,877,797 (GRCm39) probably benign Het
Ncoa4-ps A G 12: 119,226,349 (GRCm39) noncoding transcript Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Or2at1 T C 7: 99,417,155 (GRCm39) I262T probably benign Het
Paip2b C T 6: 83,808,252 (GRCm39) probably null Het
Plcb2 G T 2: 118,541,532 (GRCm39) probably benign Het
Plcd4 A G 1: 74,587,131 (GRCm39) probably null Het
Pnpla8 A G 12: 44,329,670 (GRCm39) N74S probably benign Het
Pot1b A T 17: 55,994,834 (GRCm39) I276N probably damaging Het
Qprt C T 7: 126,708,416 (GRCm39) G5D probably benign Het
Rab11fip1 T C 8: 27,646,614 (GRCm39) N154S probably damaging Het
Rin3 G A 12: 102,279,378 (GRCm39) probably benign Het
Sdf4 C T 4: 156,080,761 (GRCm39) P37S probably damaging Het
Selp A T 1: 163,964,811 (GRCm39) D491V probably damaging Het
Sh3gl3 A G 7: 81,824,696 (GRCm39) probably benign Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spata31d1e T C 13: 59,891,016 (GRCm39) Y268C probably damaging Het
Tas2r134 A G 2: 51,517,880 (GRCm39) R120G probably damaging Het
Tgfbr3 T C 5: 107,287,673 (GRCm39) R509G probably benign Het
Tle3 T A 9: 61,314,753 (GRCm39) Y231N probably damaging Het
Top6bl C A 19: 4,676,048 (GRCm39) A695S probably benign Het
Ttc41 C T 10: 86,594,210 (GRCm39) T881I probably benign Het
Ttll8 T C 15: 88,816,931 (GRCm39) Y271C probably benign Het
Ttn A T 2: 76,778,328 (GRCm39) I1307K possibly damaging Het
Ube2k A G 5: 65,723,411 (GRCm39) D48G probably damaging Het
Vcan T C 13: 89,828,069 (GRCm39) T3126A probably damaging Het
Vps13d T C 4: 144,875,540 (GRCm39) T1656A probably benign Het
Zzz3 C A 3: 152,157,759 (GRCm39) S777R possibly damaging Het
Other mutations in Entpd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Entpd2 APN 2 25,288,746 (GRCm39) missense probably benign
IGL02869:Entpd2 APN 2 25,288,120 (GRCm39) missense probably damaging 1.00
IGL03170:Entpd2 APN 2 25,289,493 (GRCm39) missense probably damaging 1.00
R1280:Entpd2 UTSW 2 25,289,496 (GRCm39) missense probably damaging 1.00
R2258:Entpd2 UTSW 2 25,288,099 (GRCm39) missense probably damaging 1.00
R2260:Entpd2 UTSW 2 25,288,099 (GRCm39) missense probably damaging 1.00
R2420:Entpd2 UTSW 2 25,289,295 (GRCm39) missense probably benign
R2566:Entpd2 UTSW 2 25,289,295 (GRCm39) missense probably benign 0.16
R4802:Entpd2 UTSW 2 25,289,776 (GRCm39) splice site probably null
R4938:Entpd2 UTSW 2 25,289,429 (GRCm39) missense probably benign 0.25
R5239:Entpd2 UTSW 2 25,290,830 (GRCm39) missense probably damaging 0.96
R5374:Entpd2 UTSW 2 25,289,738 (GRCm39) missense probably damaging 1.00
R5739:Entpd2 UTSW 2 25,289,504 (GRCm39) missense possibly damaging 0.90
R5881:Entpd2 UTSW 2 25,290,824 (GRCm39) missense probably damaging 1.00
R6016:Entpd2 UTSW 2 25,288,568 (GRCm39) missense probably damaging 0.99
R6120:Entpd2 UTSW 2 25,289,478 (GRCm39) missense probably benign 0.03
R6370:Entpd2 UTSW 2 25,287,429 (GRCm39) missense probably damaging 1.00
R7301:Entpd2 UTSW 2 25,290,921 (GRCm39) missense possibly damaging 0.88
R8059:Entpd2 UTSW 2 25,288,096 (GRCm39) missense probably damaging 0.98
R8257:Entpd2 UTSW 2 25,288,133 (GRCm39) missense probably damaging 1.00
R8868:Entpd2 UTSW 2 25,289,725 (GRCm39) missense probably benign 0.01
R9259:Entpd2 UTSW 2 25,288,614 (GRCm39) missense probably damaging 1.00
R9280:Entpd2 UTSW 2 25,289,511 (GRCm39) missense possibly damaging 0.55
R9660:Entpd2 UTSW 2 25,288,153 (GRCm39) missense probably damaging 1.00
RF007:Entpd2 UTSW 2 25,290,907 (GRCm39) frame shift probably null
RF017:Entpd2 UTSW 2 25,290,907 (GRCm39) frame shift probably null
RF018:Entpd2 UTSW 2 25,290,907 (GRCm39) frame shift probably null
RF023:Entpd2 UTSW 2 25,290,907 (GRCm39) frame shift probably null
RF024:Entpd2 UTSW 2 25,290,907 (GRCm39) frame shift probably null
X0009:Entpd2 UTSW 2 25,288,691 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGTGACTGCACACTCTTCTC -3'
(R):5'- GCTTTGTCCTAGACACCTGC -3'

Sequencing Primer
(F):5'- GCACACTCTTCTCCCACAGG -3'
(R):5'- GTCACAGAGACTTTGCAATTCCTG -3'
Posted On 2016-11-21