Incidental Mutation 'IGL03332:Entpd5'
ID 416908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Entpd5
Ensembl Gene ENSMUSG00000021236
Gene Name ectonucleoside triphosphate diphosphohydrolase 5
Synonyms Pcph, NTPDase-5, mNTPase, ER-UDPase, NTPDase5, Cd39l4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03332
Quality Score
Status
Chromosome 12
Chromosomal Location 84420649-84455803 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 84429002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021662] [ENSMUST00000072061] [ENSMUST00000110272] [ENSMUST00000117286] [ENSMUST00000120942] [ENSMUST00000122194]
AlphaFold Q9WUZ9
Predicted Effect probably null
Transcript: ENSMUST00000021662
SMART Domains Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000072061
SMART Domains Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
transmembrane domain 27 46 N/A INTRINSIC
Pfam:GDA1_CD39 65 451 1.9e-77 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110272
SMART Domains Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117286
SMART Domains Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120942
SMART Domains Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122194
SMART Domains Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135061
Coding Region Coverage
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 similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null allele develop progressive hepatopathy, hepatocellular tumors, and spermatogenic arrest. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 C A 5: 103,988,971 (GRCm39) S846* probably null Het
Cnga2 A G X: 71,049,800 (GRCm39) Y155C probably damaging Het
Cngb1 A G 8: 96,025,474 (GRCm39) probably benign Het
Ece1 T C 4: 137,673,666 (GRCm39) Y405H probably damaging Het
Itpr2 T C 6: 146,045,647 (GRCm39) E2573G probably damaging Het
Katnip T A 7: 125,419,277 (GRCm39) Y481* probably null Het
Mia2 T A 12: 59,155,184 (GRCm39) I300N probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Myo9b A G 8: 71,801,418 (GRCm39) E1192G possibly damaging Het
Nol6 C A 4: 41,120,735 (GRCm39) D405Y probably damaging Het
Rpl4 T C 9: 64,083,370 (GRCm39) probably benign Het
Rreb1 G T 13: 38,114,892 (GRCm39) E750D probably benign Het
Slc1a2 A G 2: 102,578,879 (GRCm39) M265V possibly damaging Het
Tnik C T 3: 28,720,304 (GRCm39) T1254I probably damaging Het
Unc80 G A 1: 66,542,790 (GRCm39) G348D probably damaging Het
Wdr19 A G 5: 65,384,486 (GRCm39) T527A possibly damaging Het
Zbtb21 T C 16: 97,753,533 (GRCm39) E250G possibly damaging Het
Zbtb8b G A 4: 129,322,361 (GRCm39) P367S probably damaging Het
Other mutations in Entpd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Entpd5 APN 12 84,433,828 (GRCm39) missense probably damaging 1.00
IGL01455:Entpd5 APN 12 84,441,451 (GRCm39) missense probably benign 0.00
IGL02168:Entpd5 APN 12 84,433,752 (GRCm39) critical splice donor site probably null
IGL02183:Entpd5 APN 12 84,427,154 (GRCm39) splice site probably benign
IGL03104:Entpd5 APN 12 84,431,022 (GRCm39) missense probably damaging 0.97
aventi UTSW 12 84,429,069 (GRCm39) nonsense probably null
eatsy UTSW 12 84,429,069 (GRCm39) nonsense probably null
magenschonend UTSW 12 84,441,464 (GRCm39) missense probably benign 0.00
R0024:Entpd5 UTSW 12 84,420,507 (GRCm39) missense probably benign 0.01
R0103:Entpd5 UTSW 12 84,443,717 (GRCm39) nonsense probably null
R0103:Entpd5 UTSW 12 84,443,717 (GRCm39) nonsense probably null
R0644:Entpd5 UTSW 12 84,432,915 (GRCm39) missense probably benign 0.00
R1533:Entpd5 UTSW 12 84,441,434 (GRCm39) missense probably damaging 1.00
R1536:Entpd5 UTSW 12 84,429,069 (GRCm39) nonsense probably null
R1740:Entpd5 UTSW 12 84,443,545 (GRCm39) missense probably benign 0.01
R1768:Entpd5 UTSW 12 84,432,985 (GRCm39) missense probably benign
R2049:Entpd5 UTSW 12 84,443,632 (GRCm39) missense probably benign 0.00
R5128:Entpd5 UTSW 12 84,441,464 (GRCm39) missense probably benign 0.00
R6562:Entpd5 UTSW 12 84,432,974 (GRCm39) missense probably damaging 1.00
R6907:Entpd5 UTSW 12 84,424,127 (GRCm39) missense probably benign 0.23
R7209:Entpd5 UTSW 12 84,443,702 (GRCm39) missense probably benign
R7605:Entpd5 UTSW 12 84,443,482 (GRCm39) missense probably damaging 1.00
R8700:Entpd5 UTSW 12 84,443,508 (GRCm39) missense probably damaging 1.00
X0057:Entpd5 UTSW 12 84,430,994 (GRCm39) splice site probably null
Posted On 2016-08-02