Mutagenetix > Incidental Mutations

Incidental Mutation 'R0103:Entpd5'

34495

Institutional Source

Beutler Lab

Gene Symbol

Entpd5

Ensembl Gene

ENSMUSG00000021236

Gene Name

ectonucleoside triphosphate diphosphohydrolase 5

Synonyms

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

MMRRC Submission

038389-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0103 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

84373857-84409029 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 84396943 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 9 (E9*)

Ref Sequence

ENSEMBL: ENSMUSP00000071939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021662] [ENSMUST00000072061] [ENSMUST00000110272] [ENSMUST00000117286] [ENSMUST00000120942] [ENSMUST00000122194]

Predicted Effect

probably benign
Transcript: ENSMUST00000021662

SMART Domains

Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236

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 null
Transcript: ENSMUST00000072061
AA Change: E9*

SMART Domains

Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236
AA Change: E9*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110272

SMART Domains

Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236

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 benign
Transcript: ENSMUST00000117286

SMART Domains

Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236

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 benign
Transcript: ENSMUST00000120942

SMART Domains

Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236

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 benign
Transcript: ENSMUST00000122194

SMART Domains

Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951	R443S	probably damaging	Het
Anapc1	T	C	2: 128,680,452		probably benign	Het
Aqr	T	A	2: 114,149,016	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721		probably benign	Het
Asah2	G	T	19: 32,018,977	H374N	probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
Ccdc106	C	A	7: 5,057,545	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272	Y2N	probably damaging	Het
Ctns	A	C	11: 73,185,311	I299M	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915	E301A	probably benign	Het
Cyp2b13	A	T	7: 26,088,710	K421M	probably damaging	Het
Cyp4f40	G	T	17: 32,676,308	C468F	probably damaging	Het
Cyp4f40	C	A	17: 32,676,309	C468*	probably null	Het
Dcun1d5	G	A	9: 7,188,788	C74Y	probably damaging	Het
Dennd4c	A	G	4: 86,812,446	Y860C	probably benign	Het
Dgkz	T	C	2: 91,934,205	T1028A	probably benign	Het
Dhx58	T	C	11: 100,695,270	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172	E2511K	probably damaging	Het
Fbln2	A	C	6: 91,271,550	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884	I17K	probably damaging	Het
Gbp7	T	A	3: 142,546,538	N627K	probably benign	Het
Gm20388	A	G	8: 122,269,733		probably benign	Het
Gnptab	A	G	10: 88,429,519	Y331C	probably damaging	Het
Hdac4	T	C	1: 91,975,644	E521G	possibly damaging	Het
Hibadh	T	A	6: 52,557,877	M173L	probably benign	Het
Iba57	C	T	11: 59,163,613	A27T	probably benign	Het
Itga1	T	C	13: 115,016,254	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916	I155F	possibly damaging	Het
Krt84	T	C	15: 101,530,236	E272G	probably damaging	Het
Lrp2	C	A	2: 69,477,040	V2892L	probably benign	Het
Ltb	A	G	17: 35,195,040		probably benign	Het
Masp1	G	A	16: 23,458,018	P579L	probably damaging	Het
Mtor	T	A	4: 148,533,902	M1724K	probably benign	Het
Myo3a	T	G	2: 22,544,322		probably benign	Het
Myo9b	C	T	8: 71,323,849		probably benign	Het
Ncor1	G	T	11: 62,343,045	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242	C53*	probably null	Het
Obscn	G	T	11: 59,062,696	Y4044*	probably null	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Pcdh15	A	T	10: 74,210,425	D178V	probably damaging	Het
Pcsk6	T	C	7: 65,929,097		probably benign	Het
Phxr4	T	C	9: 13,431,791		probably benign	Het
Pkhd1	T	A	1: 20,523,359	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141	C4249R	probably benign	Het
Plxnb2	A	G	15: 89,161,769	Y968H	possibly damaging	Het
Prpf39	T	C	12: 65,055,283	V378A	possibly damaging	Het
Psd2	A	G	18: 36,004,717	N455S	probably damaging	Het
Ptch2	C	A	4: 117,109,425		probably benign	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rad9b	A	T	5: 122,331,527	V348E	probably damaging	Het
Rcor1	T	C	12: 111,109,778		probably benign	Het
Rhoc	A	T	3: 104,791,991	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571	V925G	probably damaging	Het
Rptor	G	T	11: 119,884,967	R988L	probably benign	Het
Slc25a32	A	T	15: 39,099,897	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426	K4*	probably null	Het
Ss18	A	C	18: 14,679,421	Y38D	probably damaging	Het
Syt4	T	A	18: 31,447,220		probably benign	Het
Taar4	A	T	10: 23,961,406	N305Y	probably damaging	Het
Taar7b	A	T	10: 24,000,294	Y119F	probably benign	Het
Tcaf1	G	T	6: 42,686,390	D185E	probably benign	Het
Tmem138	T	C	19: 10,574,952	N62S	possibly damaging	Het
Tnfaip2	C	T	12: 111,445,810	T215M	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnfrsf25	C	T	4: 152,116,948	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979	F597S	probably damaging	Het
Tsc22d4	A	C	5: 137,747,116	M1L	possibly damaging	Het
Ttc39a	A	G	4: 109,421,453		probably null	Het
Ttn	T	G	2: 76,761,226	H21033P	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539	C114R	possibly damaging	Het
Wdr33	T	C	18: 31,833,335	V135A	probably damaging	Het
Zc3h13	T	A	14: 75,330,468	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113	W274*	probably null	Het
Zfp219	T	A	14: 52,006,706	H627L	probably damaging	Het

Other mutations in Entpd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Entpd5	APN	12	84387054	missense	probably damaging	1.00
IGL01455:Entpd5	APN	12	84394677	missense	probably benign	0.00
IGL02168:Entpd5	APN	12	84386978	critical splice donor site	probably null
IGL02183:Entpd5	APN	12	84380380	splice site	probably benign
IGL03104:Entpd5	APN	12	84384248	missense	probably damaging	0.97
IGL03332:Entpd5	APN	12	84382228	splice site	probably null
aventi	UTSW	12	84382295	nonsense	probably null
eatsy	UTSW	12	84382295	nonsense	probably null
magenschonend	UTSW	12	84394690	missense	probably benign	0.00
R0024:Entpd5	UTSW	12	84373733	missense	probably benign	0.01
R0103:Entpd5	UTSW	12	84396943	nonsense	probably null
R0644:Entpd5	UTSW	12	84386141	missense	probably benign	0.00
R1533:Entpd5	UTSW	12	84394660	missense	probably damaging	1.00
R1536:Entpd5	UTSW	12	84382295	nonsense	probably null
R1740:Entpd5	UTSW	12	84396771	missense	probably benign	0.01
R1768:Entpd5	UTSW	12	84386211	missense	probably benign
R2049:Entpd5	UTSW	12	84396858	missense	probably benign	0.00
R5128:Entpd5	UTSW	12	84394690	missense	probably benign	0.00
R6562:Entpd5	UTSW	12	84386200	missense	probably damaging	1.00
R6907:Entpd5	UTSW	12	84377353	missense	probably benign	0.23
R7209:Entpd5	UTSW	12	84396928	missense	probably benign
R7605:Entpd5	UTSW	12	84396708	missense	probably damaging	1.00
X0057:Entpd5	UTSW	12	84384220	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGCTGCCCGCATCAAACATAATTC -3'
(R):5'- TTGTGCTCGATCCACTGTGTCAG -3'

Sequencing Primer
(F):5'- ACATAATTCCATAAAAGGTGCCG -3'
(R):5'- tgggaggtgcaggaagg -3'

Posted On

2013-05-09