Mutagenetix > Incidental Mutation

Incidental Mutation 'R8700:Entpd5'

669017

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

068554-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84420649-84455803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84443508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 53 (D53E)

Ref Sequence

ENSEMBL: ENSMUSP00000021662 (fasta)

Gene Model

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

AlphaFold

Q9WUZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021662
AA Change: D53E

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

SMART Domains

Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236
AA Change: D53E

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: D78E

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

SMART Domains

Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236
AA Change: D78E

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 damaging
Transcript: ENSMUST00000110272
AA Change: D53E

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

SMART Domains

Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236
AA Change: D53E

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: ENSMUST00000117286
AA Change: D53E

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

SMART Domains

Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236
AA Change: D53E

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: ENSMUST00000120942
AA Change: D53E

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

SMART Domains

Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236
AA Change: D53E

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: ENSMUST00000122194
AA Change: D53E

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

SMART Domains

Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236
AA Change: D53E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	T	A	11: 50,833,344 (GRCm39)	D86V	unknown	Het
Abtb2	C	A	2: 103,397,289 (GRCm39)	T73K	probably damaging	Het
Akr1c14	T	C	13: 4,131,157 (GRCm39)		probably benign	Het
Anapc7	T	A	5: 122,560,669 (GRCm39)	M10K	probably damaging	Het
Ano7	T	G	1: 93,316,329 (GRCm39)	I204S	probably damaging	Het
Arhgef39	T	A	4: 43,496,715 (GRCm39)	Q333L	probably benign	Het
Art5	T	C	7: 101,748,862 (GRCm39)		probably benign	Het
Asah1	T	C	8: 41,813,312 (GRCm39)	T34A	probably benign	Het
Atp9b	T	C	18: 80,796,361 (GRCm39)	E894G		Het
Atxn7l3	A	T	11: 102,184,747 (GRCm39)	M126K	possibly damaging	Het
Cacna2d4	A	G	6: 119,258,654 (GRCm39)	D580G	probably damaging	Het
Calcoco2	T	A	11: 95,994,330 (GRCm39)	K74N	probably benign	Het
Ccdc163	T	C	4: 116,571,348 (GRCm39)		probably null	Het
Cep164	T	C	9: 45,686,667 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,833,892 (GRCm39)	N1215K	probably damaging	Het
Chsy3	T	C	18: 59,309,487 (GRCm39)	Y247H	probably damaging	Het
Clec16a	A	G	16: 10,506,422 (GRCm39)	Y714C	probably damaging	Het
Col12a1	A	G	9: 79,527,371 (GRCm39)	V2653A	probably benign	Het
Daam2	T	A	17: 49,803,180 (GRCm39)	K77N	probably damaging	Het
Dhx35	T	A	2: 158,682,552 (GRCm39)	M495K	possibly damaging	Het
Disp2	T	A	2: 118,620,340 (GRCm39)	C357*	probably null	Het
Dnah6	T	A	6: 73,052,873 (GRCm39)		probably benign	Het
Dnah7a	T	G	1: 53,535,088 (GRCm39)	D2724A	possibly damaging	Het
Fto	T	A	8: 92,249,461 (GRCm39)	I431N	probably damaging	Het
Gabrr2	T	C	4: 33,095,488 (GRCm39)	I459T	probably damaging	Het
Gm5565	T	A	5: 146,097,236 (GRCm39)	I29F	probably damaging	Het
Gm9195	C	T	14: 72,720,171 (GRCm39)	G87R	probably damaging	Het
Grin2a	T	C	16: 9,397,412 (GRCm39)	S892G	probably benign	Het
Katnip	A	G	7: 125,429,042 (GRCm39)		probably benign	Het
Mki67	T	C	7: 135,307,436 (GRCm39)	N106S		Het
Myo16	T	C	8: 10,463,172 (GRCm39)	S580P	unknown	Het
Neo1	A	G	9: 58,825,913 (GRCm39)	S672P	probably benign	Het
Nxph3	A	T	11: 95,401,706 (GRCm39)	V236E	probably damaging	Het
Or10j7	G	T	1: 173,011,429 (GRCm39)	P191T	probably benign	Het
Or7e171-ps1	A	C	9: 19,852,996 (GRCm39)	L247V	unknown	Het
Pcdhb14	T	C	18: 37,582,652 (GRCm39)	V586A	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pja2	C	T	17: 64,599,949 (GRCm39)	D512N	probably damaging	Het
Ppfibp2	A	G	7: 107,345,602 (GRCm39)	T875A	possibly damaging	Het
Ppp3cc	C	A	14: 70,474,001 (GRCm39)	C332F	probably damaging	Het
Pramel16	T	A	4: 143,675,701 (GRCm39)	H375L	possibly damaging	Het
Psg18	A	T	7: 18,087,550 (GRCm39)	V36D	probably damaging	Het
Ptprh	A	G	7: 4,567,190 (GRCm39)	S561P	probably damaging	Het
Rhbdf2	G	A	11: 116,498,230 (GRCm39)		probably benign	Het
Ripk2	T	A	4: 16,158,422 (GRCm39)	N61I	possibly damaging	Het
Setdb2	T	C	14: 59,654,888 (GRCm39)	Y318C	probably damaging	Het
Shc1	A	G	3: 89,334,740 (GRCm39)	D533G	possibly damaging	Het
Sirpb1a	T	C	3: 15,476,419 (GRCm39)	E193G	probably damaging	Het
Slc41a2	T	C	10: 83,152,097 (GRCm39)	E126G	probably damaging	Het
Spata31h1	A	T	10: 82,127,859 (GRCm39)	I1717N	possibly damaging	Het
Srms	C	A	2: 180,848,521 (GRCm39)	A413S	probably damaging	Het
Tob2	G	T	15: 81,735,802 (GRCm39)	R56S	probably damaging	Het
Unc119	T	C	11: 78,238,137 (GRCm39)	I105T	probably benign	Het
Unc13c	T	C	9: 73,479,679 (GRCm39)	I1742V	probably benign	Het
Vmn1r46	C	T	6: 89,953,325 (GRCm39)	T58I	probably benign	Het
Vmn2r81	G	T	10: 79,129,517 (GRCm39)	V803F	probably damaging	Het
Zfp365	T	C	10: 67,745,535 (GRCm39)	K81R	possibly damaging	Het
Zfp974	G	T	7: 27,609,472 (GRCm39)	T751K	possibly damaging	Het
Zfpl1	T	C	19: 6,132,464 (GRCm39)	N149S	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
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
X0057:Entpd5	UTSW	12	84,430,994 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGTGCTTGGTATGACAGC -3'
(R):5'- TGGGAAGAATATGGCCACTTC -3'

Sequencing Primer
(F):5'- CTGGCCTCAAATATCCTAGGTAG -3'
(R):5'- AGAATATGGCCACTTCCTGGG -3'

Posted On

2021-04-30