Incidental Mutation 'IGL03104:Entpd5'
ID 418848
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 # IGL03104
Quality Score
Status
Chromosome 12
Chromosomal Location 84420649-84455803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84431022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 310 (V310E)
Ref Sequence ENSEMBL: ENSMUSP00000071939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021662] [ENSMUST00000072061] [ENSMUST00000110272] [ENSMUST00000117286] [ENSMUST00000120942] [ENSMUST00000122194]
AlphaFold Q9WUZ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000021662
AA Change: V285E

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236
AA Change: V285E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000072061
AA Change: V310E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236
AA Change: V310E

DomainStartEndE-ValueType
transmembrane domain 27 46 N/A INTRINSIC
Pfam:GDA1_CD39 65 451 1.9e-77 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110272
AA Change: V285E

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236
AA Change: V285E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117286
AA Change: V285E

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236
AA Change: V285E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120942
AA Change: V285E

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236
AA Change: V285E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122194
AA Change: V285E

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236
AA Change: V285E

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 C A 1: 58,321,918 (GRCm39) T70K probably benign Het
Armt1 T A 10: 4,389,615 (GRCm39) Y91N possibly damaging Het
Atp1a2 A G 1: 172,120,934 (GRCm39) L46S probably damaging Het
Baz1a A G 12: 54,941,743 (GRCm39) S1488P probably damaging Het
Coro7 T A 16: 4,446,990 (GRCm39) E793V probably damaging Het
Ctnnbl1 G T 2: 157,732,885 (GRCm39) R555L probably damaging Het
Dclk2 A G 3: 86,743,666 (GRCm39) C268R probably damaging Het
Dock7 A T 4: 98,847,260 (GRCm39) M1684K possibly damaging Het
Dock8 T A 19: 25,178,384 (GRCm39) C2092* probably null Het
Dtx1 T A 5: 120,833,030 (GRCm39) Q136L possibly damaging Het
Egln3 C T 12: 54,249,981 (GRCm39) probably benign Het
Eml5 A T 12: 98,827,504 (GRCm39) Y575* probably null Het
Fkbp5 A G 17: 28,634,946 (GRCm39) F188L probably damaging Het
Frrs1 T C 3: 116,675,431 (GRCm39) S120P probably benign Het
Gadl1 T C 9: 115,903,108 (GRCm39) I479T possibly damaging Het
Gfra2 A T 14: 71,205,725 (GRCm39) M106L probably benign Het
Gm17455 T A 10: 60,239,060 (GRCm39) C108* probably null Het
Grhpr A G 4: 44,983,867 (GRCm39) probably benign Het
Hsp90ab1 G A 17: 45,882,449 (GRCm39) R82C probably damaging Het
Igsf10 T C 3: 59,226,905 (GRCm39) Y2256C probably damaging Het
Ivd A T 2: 118,703,384 (GRCm39) I160F probably benign Het
Krtap5-5 A G 7: 141,783,450 (GRCm39) C67R unknown Het
Lhx4 A T 1: 155,580,967 (GRCm39) V186E probably damaging Het
Lrrk2 T C 15: 91,631,958 (GRCm39) I1294T possibly damaging Het
Map3k5 C T 10: 20,007,801 (GRCm39) S1202L probably benign Het
Mdfic T A 6: 15,770,319 (GRCm39) N108K probably damaging Het
Mov10 G A 3: 104,704,623 (GRCm39) R763W probably damaging Het
Mto1 T C 9: 78,356,802 (GRCm39) S106P probably damaging Het
Naca C T 10: 127,876,233 (GRCm39) probably benign Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or8s10 A G 15: 98,336,127 (GRCm39) Y259C possibly damaging Het
Pan2 T C 10: 128,151,532 (GRCm39) probably benign Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Sipa1l1 T A 12: 82,388,904 (GRCm39) S377T probably benign Het
Sirpd G T 3: 15,397,283 (GRCm39) probably benign Het
Slc36a3 A G 11: 55,015,946 (GRCm39) S403P probably damaging Het
Slc4a4 A G 5: 89,297,231 (GRCm39) T480A probably damaging Het
Slu7 G A 11: 43,332,883 (GRCm39) V315I probably benign Het
St6galnac3 T C 3: 152,911,115 (GRCm39) E282G probably damaging Het
Tlr12 A G 4: 128,509,685 (GRCm39) V855A probably benign Het
Tut7 T C 13: 59,962,717 (GRCm39) D350G probably benign Het
Vmn1r53 T A 6: 90,200,944 (GRCm39) K127* probably null Het
Vmn1r72 T G 7: 11,403,812 (GRCm39) H212P probably damaging Het
Vmn2r86 T A 10: 130,282,501 (GRCm39) Q705L probably damaging Het
Vps33b C T 7: 79,925,831 (GRCm39) R93C probably damaging Het
Wdr91 T A 6: 34,882,491 (GRCm39) E219D probably benign Het
Zan G A 5: 137,461,762 (GRCm39) T1139I unknown Het
Zc3hav1 T A 6: 38,317,278 (GRCm39) K107N probably damaging Het
Zmym2 A G 14: 57,187,784 (GRCm39) E1150G possibly 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
IGL03332:Entpd5 APN 12 84,429,002 (GRCm39) splice site probably null
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