Incidental Mutation 'R4938:Entpd2'
ID 382816
Institutional Source Beutler Lab
Gene Symbol Entpd2
Ensembl Gene ENSMUSG00000015085
Gene Name ectonucleoside triphosphate diphosphohydrolase 2
Synonyms NTPDase2, Cd39l1
MMRRC Submission 042537-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R4938 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25285886-25291333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25289429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 304 (T304A)
Ref Sequence ENSEMBL: ENSMUSP00000028328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028328] [ENSMUST00000055921] [ENSMUST00000071442] [ENSMUST00000154809] [ENSMUST00000141567]
AlphaFold O55026
Predicted Effect probably benign
Transcript: ENSMUST00000028328
AA Change: T304A

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085
AA Change: T304A

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: ENSMUST00000141106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148859
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 99% (74/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl14ep G T 2: 106,799,663 (GRCm39) H59Q probably damaging Het
Atp6v0a4 T A 6: 38,055,749 (GRCm39) I321F possibly damaging Het
Cdr2l A G 11: 115,284,651 (GRCm39) D329G possibly damaging Het
Cep55 A G 19: 38,058,364 (GRCm39) E319G probably damaging Het
Cfhr2 C T 1: 139,741,265 (GRCm39) V237I probably benign Het
Clasrp A G 7: 19,318,703 (GRCm39) probably null Het
Col12a1 C A 9: 79,607,632 (GRCm39) E399* probably null Het
Cyp19a1 T A 9: 54,080,647 (GRCm39) I237F probably benign Het
Dnajc6 T G 4: 101,494,010 (GRCm39) N847K probably damaging Het
E330013P04Rik C G 19: 60,150,453 (GRCm39) noncoding transcript Het
Etl4 A G 2: 20,803,460 (GRCm39) T779A probably benign Het
Fam107b A T 2: 3,773,907 (GRCm39) I35L probably benign Het
Fgg A T 3: 82,920,175 (GRCm39) Y318F probably benign Het
Fitm1 A C 14: 55,814,076 (GRCm39) T191P probably damaging Het
Fras1 A G 5: 96,924,583 (GRCm39) M3675V probably damaging Het
Fry C T 5: 150,401,454 (GRCm39) R731W probably damaging Het
Galnt17 A T 5: 131,335,237 (GRCm39) S68T probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Grm1 C T 10: 10,812,257 (GRCm39) A256T probably damaging Het
Hoxd13 A G 2: 74,499,027 (GRCm39) Y125C probably benign Het
Hspa14 A T 2: 3,492,646 (GRCm39) I373K probably benign Het
Ifnlr1 A G 4: 135,432,593 (GRCm39) E343G probably benign Het
Ighv5-9 A G 12: 113,625,582 (GRCm39) S54P probably benign Het
Insyn2b G A 11: 34,352,231 (GRCm39) G91E probably damaging Het
Irf2bpl A G 12: 86,928,892 (GRCm39) S594P possibly damaging Het
Kcnq2 A G 2: 180,728,766 (GRCm39) S548P probably damaging Het
Lrp2 G A 2: 69,302,712 (GRCm39) R3006W probably damaging Het
Lrrc4c A T 2: 97,459,646 (GRCm39) I91F probably damaging Het
Mdh1b T C 1: 63,750,663 (GRCm39) D435G probably benign Het
Mettl3 A T 14: 52,537,184 (GRCm39) S182T probably damaging Het
Mllt6 A G 11: 97,569,233 (GRCm39) T862A probably benign Het
Mmp27 G T 9: 7,578,983 (GRCm39) R412I probably damaging Het
Mstn A G 1: 53,105,582 (GRCm39) N308S possibly damaging Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Ngf C T 3: 102,427,790 (GRCm39) R180W probably damaging Het
Notch1 G A 2: 26,364,136 (GRCm39) Q862* probably null Het
Nsrp1 T C 11: 76,936,570 (GRCm39) D542G probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or5b21 T A 19: 12,839,916 (GRCm39) M259K probably damaging Het
Or8b43 T A 9: 38,360,679 (GRCm39) D170E probably benign Het
Papln C T 12: 83,829,677 (GRCm39) P911S probably benign Het
Pdxdc1 A G 16: 13,693,933 (GRCm39) V163A probably benign Het
Plekhj1 A T 10: 80,633,609 (GRCm39) I76N probably damaging Het
Pnp2 A G 14: 51,201,025 (GRCm39) probably null Het
Polr3gl T C 3: 96,487,208 (GRCm39) E89G probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prss37 A G 6: 40,491,917 (GRCm39) I221T possibly damaging Het
Ptx4 C T 17: 25,342,139 (GRCm39) Q205* probably null Het
Qsox1 T C 1: 155,655,414 (GRCm39) E583G probably benign Het
Riok3 T A 18: 12,288,300 (GRCm39) N492K probably benign Het
Sec13 A G 6: 113,712,153 (GRCm39) W61R probably damaging Het
Slc20a2 T C 8: 23,051,221 (GRCm39) V418A possibly damaging Het
Smad9 G A 3: 54,696,651 (GRCm39) V239I probably benign Het
Stmn2 A G 3: 8,610,792 (GRCm39) E92G probably damaging Het
Taf1c A G 8: 120,325,537 (GRCm39) V775A probably benign Het
Thsd7a T A 6: 12,330,991 (GRCm39) I1384L probably benign Het
Tnxb A G 17: 34,932,606 (GRCm39) Y2275C probably damaging Het
Trmo G T 4: 46,382,388 (GRCm39) T243N probably benign Het
Tyrp1 C T 4: 80,758,883 (GRCm39) A252V probably damaging Het
Vasp T C 7: 18,991,642 (GRCm39) *376W probably null Het
Vmn1r231 T C 17: 21,110,613 (GRCm39) I101V possibly damaging Het
Zfp532 T C 18: 65,756,837 (GRCm39) S257P probably benign Het
Zfp563 G A 17: 33,324,683 (GRCm39) C426Y probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp703 C A 8: 27,469,801 (GRCm39) H488Q probably damaging Het
Zfp964 A G 8: 70,116,758 (GRCm39) N452D possibly damaging Het
Zfyve28 A C 5: 34,390,698 (GRCm39) Y188D probably 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
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
R5752:Entpd2 UTSW 2 25,289,781 (GRCm39) unclassified probably benign
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'- CTTACGAACAGTTCATCAGGCTG -3'
(R):5'- GTCACCACATGCTTAGGGTC -3'

Sequencing Primer
(F):5'- AACAGTTCATCAGGCTGCCTCC -3'
(R):5'- GGTCTCCCGTCCCCACATC -3'
Posted On 2016-04-27