Mutagenetix > Incidental Mutation

Incidental Mutation 'R1533:Entpd5'

166771

Institutional Source

Beutler Lab

Gene Symbol

Entpd5

Ensembl Gene

ENSMUSG00000021236

Gene Name

ectonucleoside triphosphate diphosphohydrolase 5

Synonyms

Pcph, NTPDase-5, mNTPase, ER-UDPase, NTPDase5, Cd39l4

MMRRC Submission

039572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1533 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84420649-84455803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84441434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 111 (K111N)

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: K86N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236
AA Change: K86N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000072061
AA Change: K111N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236
AA Change: K111N

Domain	Start	End	E-Value	Type
transmembrane domain	27	46	N/A	INTRINSIC
Pfam:GDA1_CD39	65	451	1.9e-77	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110272
AA Change: K86N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236
AA Change: K86N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117286
AA Change: K86N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236
AA Change: K86N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120942
AA Change: K86N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236
AA Change: K86N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122194
AA Change: K86N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236
AA Change: K86N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:GDA1_CD39	41	426	3.5e-76	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,928,807 (GRCm39)	G1340A	probably benign	Het
Ambra1	T	A	2: 91,717,210 (GRCm39)	Y836N	probably damaging	Het
Arhgap26	A	T	18: 39,504,130 (GRCm39)	H144L	probably benign	Het
B3gnt5	A	G	16: 19,588,364 (GRCm39)	I194M	probably damaging	Het
Bltp1	G	T	3: 37,095,524 (GRCm39)	G4509V	probably damaging	Het
Bod1l	A	T	5: 41,979,498 (GRCm39)	C605*	probably null	Het
C2cd3	G	T	7: 100,055,284 (GRCm39)	K482N	possibly damaging	Het
Cd300lg	T	A	11: 101,934,047 (GRCm39)	L98Q	probably damaging	Het
Cerkl	T	A	2: 79,171,701 (GRCm39)	I386F	possibly damaging	Het
Cfh	T	A	1: 140,028,716 (GRCm39)	D466V	possibly damaging	Het
Crtc1	A	T	8: 70,850,949 (GRCm39)	I221N	probably damaging	Het
Ctnnbl1	T	C	2: 157,678,563 (GRCm39)	S389P	probably benign	Het
Ctsb	A	T	14: 63,376,544 (GRCm39)	D258V	probably damaging	Het
Cuzd1	G	T	7: 130,913,432 (GRCm39)	T395N	probably damaging	Het
Dnah6	T	C	6: 73,128,536 (GRCm39)	T1240A	probably benign	Het
Dok7	T	A	5: 35,221,671 (GRCm39)		probably null	Het
Dscaml1	T	C	9: 45,361,882 (GRCm39)	V214A	probably damaging	Het
Enpp6	A	T	8: 47,518,469 (GRCm39)	Y199F	probably benign	Het
Fam98a	A	G	17: 75,848,276 (GRCm39)	L146S	probably damaging	Het
Fhod3	A	T	18: 25,248,921 (GRCm39)	I1367F	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fpr3	T	A	17: 18,190,922 (GRCm39)	Y64*	probably null	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Gcsh	T	A	8: 117,715,921 (GRCm39)	H54L	probably damaging	Het
Gsdma	T	A	11: 98,567,210 (GRCm39)	S437T	unknown	Het
Gzmc	A	G	14: 56,471,376 (GRCm39)	V55A	probably damaging	Het
Hecw2	T	A	1: 53,965,704 (GRCm39)		probably null	Het
Ifi207	A	G	1: 173,555,306 (GRCm39)	V792A	probably benign	Het
Itpr3	C	A	17: 27,314,534 (GRCm39)	N661K	possibly damaging	Het
Jmy	A	T	13: 93,577,819 (GRCm39)	I783N	probably benign	Het
Kcmf1	T	C	6: 72,820,003 (GRCm39)	E281G	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lgr6	T	A	1: 135,032,670 (GRCm39)	Y70F	possibly damaging	Het
Lnx1	T	G	5: 74,780,678 (GRCm39)	D330A	probably damaging	Het
Lrp5	T	C	19: 3,664,234 (GRCm39)	N106S	probably benign	Het
Mamdc4	C	A	2: 25,459,759 (GRCm39)	R135L	possibly damaging	Het
Mcm3ap	A	G	10: 76,340,121 (GRCm39)	E1464G	probably damaging	Het
Megf8	T	C	7: 25,034,280 (GRCm39)	V666A	possibly damaging	Het
Mettl3	T	A	14: 52,534,385 (GRCm39)	E331D	probably benign	Het
Mphosph9	T	C	5: 124,405,204 (GRCm39)	K789R	probably damaging	Het
Mtf2	T	C	5: 108,239,995 (GRCm39)	L234P	probably damaging	Het
Ncdn	C	A	4: 126,642,491 (GRCm39)	E389*	probably null	Het
Ndor1	A	G	2: 25,139,279 (GRCm39)	S231P	probably damaging	Het
Nelfa	T	G	5: 34,056,215 (GRCm39)	K483Q	probably damaging	Het
Odad1	T	A	7: 45,592,282 (GRCm39)	M354K	probably benign	Het
Opn1sw	C	T	6: 29,378,923 (GRCm39)	R243Q	probably benign	Het
Or13a24	T	A	7: 140,155,034 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,792 (GRCm39)	N284S	probably damaging	Het
Pik3cd	T	C	4: 149,739,653 (GRCm39)	E584G	probably damaging	Het
Plcb3	A	T	19: 6,935,041 (GRCm39)	M870K	possibly damaging	Het
Poc5	A	G	13: 96,528,152 (GRCm39)	D16G	probably damaging	Het
Prpf40a	A	G	2: 53,035,852 (GRCm39)	I633T	probably damaging	Het
Ptpn13	G	T	5: 103,704,044 (GRCm39)	E1359*	probably null	Het
Ptprr	C	A	10: 116,024,113 (GRCm39)	Y4*	probably null	Het
Rbm45	T	C	2: 76,202,503 (GRCm39)		probably null	Het
Rfng	C	T	11: 120,672,687 (GRCm39)	W320*	probably null	Het
Rgs6	G	T	12: 83,138,547 (GRCm39)	V294L	probably benign	Het
Rufy4	T	C	1: 74,169,002 (GRCm39)		probably null	Het
Ruvbl2	T	A	7: 45,073,566 (GRCm39)	N313I	probably damaging	Het
Sema4g	G	A	19: 44,981,256 (GRCm39)	V70M	probably damaging	Het
Siglec1	T	C	2: 130,918,078 (GRCm39)	T969A	probably benign	Het
Slc22a27	T	A	19: 7,844,348 (GRCm39)	T431S	possibly damaging	Het
Slc25a16	G	A	10: 62,756,643 (GRCm39)	R38H	probably damaging	Het
Slc38a6	T	C	12: 73,391,626 (GRCm39)	V296A	probably benign	Het
Slc39a11	C	T	11: 113,196,748 (GRCm39)	V212I	probably damaging	Het
Sltm	A	G	9: 70,493,948 (GRCm39)	K782E	probably damaging	Het
Styxl1	T	A	5: 135,799,175 (GRCm39)	Y23F	probably damaging	Het
Svs4	T	C	2: 164,120,148 (GRCm39)	I20V	unknown	Het
Syt14	G	T	1: 192,613,084 (GRCm39)	T572K	possibly damaging	Het
Tbc1d5	A	T	17: 51,227,603 (GRCm39)	I214N	possibly damaging	Het
Tm9sf3	A	G	19: 41,227,223 (GRCm39)	S283P	probably benign	Het
Tmtc1	C	T	6: 148,147,208 (GRCm39)		probably null	Het
Ttll7	T	A	3: 146,602,422 (GRCm39)	N73K	probably damaging	Het
Ttn	T	A	2: 76,602,802 (GRCm39)	K18473N	probably damaging	Het
Ubr2	A	C	17: 47,278,173 (GRCm39)	Y721*	probably null	Het
Vmn1r14	T	A	6: 57,211,286 (GRCm39)	I288N	probably damaging	Het
Vmn2r103	T	C	17: 19,993,662 (GRCm39)	I13T	probably benign	Het
Vps13a	A	T	19: 16,678,494 (GRCm39)	Y1162*	probably null	Het
Vps51	C	A	19: 6,121,497 (GRCm39)	R175L	probably benign	Het
Zfp523	C	A	17: 28,423,473 (GRCm39)	S149R	probably benign	Het
Zik1	A	G	7: 10,224,053 (GRCm39)	I348T	possibly damaging	Het
Znfx1	T	A	2: 166,898,708 (GRCm39)	H72L	probably benign	Het

Other mutations in Entpd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGAACACCAGGAGATGTTTAACGA -3'
(R):5'- ATCTGAAGCAGTCTACCCTCTGACAA -3'

Sequencing Primer
(F):5'- agaaccctaaacatcaaattaagcc -3'
(R):5'- tcctctttttcttcttcttcttcttc -3'

Posted On

2014-04-13