Mutagenetix > Incidental Mutation

Incidental Mutation 'R8059:Entpd2'

619579

Institutional Source

Beutler Lab

Gene Symbol

Entpd2

Ensembl Gene

ENSMUSG00000015085

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

Synonyms

NTPDase2, Cd39l1

MMRRC Submission

067894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25285886-25291333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25288096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 107 (V107L)

Ref Sequence

ENSEMBL: ENSMUSP00000028328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028328] [ENSMUST00000071442]

AlphaFold

O55026

Predicted Effect

probably damaging
Transcript: ENSMUST00000028328
AA Change: V107L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085
AA Change: V107L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:GDA1_CD39	32	459	9.7e-104	PFAM
low complexity region	465	483	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071442

SMART Domains

Protein: ENSMUSP00000071387
Gene: ENSMUSG00000015094

Domain	Start	End	E-Value	Type
Pfam:NPDC1	1	332	7.2e-217	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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 the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display smaller circumvallate papilla size and reduced neural responses to taste stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,279 (GRCm39)	M3372K	probably benign	Het
Abcg3	A	T	5: 105,100,948 (GRCm39)		probably null	Het
Adam19	G	A	11: 46,027,293 (GRCm39)		probably benign	Het
Adgrg6	G	T	10: 14,344,794 (GRCm39)	T53K	probably damaging	Het
Ccdc141	A	C	2: 76,875,095 (GRCm39)	L705R	probably damaging	Het
Cep78	A	T	19: 15,958,876 (GRCm39)	V156E	probably benign	Het
Cers2	A	G	3: 95,229,982 (GRCm39)	D342G	probably damaging	Het
Chl1	T	A	6: 103,651,948 (GRCm39)	I272N	probably damaging	Het
Defb30	A	G	14: 63,273,383 (GRCm39)	*77Q	probably null	Het
Dnai3	C	G	3: 145,752,428 (GRCm39)	R749S	possibly damaging	Het
Dnm3	A	G	1: 161,911,708 (GRCm39)	V63A	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Hectd1	T	A	12: 51,837,161 (GRCm39)	H799L	possibly damaging	Het
Hira	T	C	16: 18,730,901 (GRCm39)	V200A	probably damaging	Het
Hspd1	T	C	1: 55,120,883 (GRCm39)	K269E	possibly damaging	Het
Kcnj4	T	C	15: 79,369,003 (GRCm39)	S326G	probably benign	Het
Kctd19	T	G	8: 106,122,983 (GRCm39)	I144L	probably benign	Het
Lama4	T	C	10: 38,842,057 (GRCm39)	I36T	probably benign	Het
Lrrn3	T	C	12: 41,504,216 (GRCm39)	T34A	probably benign	Het
Maco1	A	T	4: 134,555,359 (GRCm39)	C371*	probably null	Het
Maml3	A	G	3: 51,764,110 (GRCm39)	S285P	probably damaging	Het
Man2b2	A	G	5: 36,973,504 (GRCm39)	Y492H	probably damaging	Het
Mapk10	G	T	5: 103,114,478 (GRCm39)	N303K	probably damaging	Het
Matn2	C	T	15: 34,345,481 (GRCm39)	R163C	probably damaging	Het
Mtmr7	C	T	8: 41,034,564 (GRCm39)	A253T	probably damaging	Het
Naca	C	T	10: 127,876,372 (GRCm39)	P468L	unknown	Het
Nckap1l	T	C	15: 103,401,714 (GRCm39)	S1084P	possibly damaging	Het
Nek11	T	C	9: 105,040,173 (GRCm39)	*629W	probably null	Het
Nfkb1	C	T	3: 135,299,613 (GRCm39)	A731T	possibly damaging	Het
Nop2	T	C	6: 125,117,775 (GRCm39)	V442A	probably damaging	Het
Oaz2	C	T	9: 65,596,425 (GRCm39)	P163L	probably damaging	Het
Or5p57	T	C	7: 107,665,223 (GRCm39)	T231A	probably benign	Het
Or6d14	C	T	6: 116,533,434 (GRCm39)	T16I	possibly damaging	Het
Or8k23	A	G	2: 86,186,306 (GRCm39)	V140A	probably benign	Het
Pabpc2	A	T	18: 39,907,875 (GRCm39)	N380I	probably benign	Het
Pax3	T	C	1: 78,080,003 (GRCm39)	D461G	probably benign	Het
Pds5b	G	T	5: 150,731,300 (GRCm39)	R1443L	unknown	Het
Per1	G	A	11: 68,997,309 (GRCm39)	R828H	probably damaging	Het
Phlpp2	T	A	8: 110,622,189 (GRCm39)	S144T	probably benign	Het
Plod1	A	T	4: 148,012,941 (GRCm39)	I207N	probably damaging	Het
Psmc6	A	T	14: 45,578,260 (GRCm39)	I208F	probably damaging	Het
Rev3l	T	C	10: 39,719,491 (GRCm39)	S2494P	probably damaging	Het
Rgs3	T	C	4: 62,521,214 (GRCm39)		probably benign	Het
Rtraf	T	C	14: 19,872,631 (GRCm39)		probably benign	Het
Slc17a6	T	A	7: 51,294,792 (GRCm39)	N166K	probably damaging	Het
Slc18a2	A	T	19: 59,272,572 (GRCm39)	T348S	probably benign	Het
Slc39a8	G	T	3: 135,532,347 (GRCm39)	A39S	probably benign	Het
Slc8a3	C	T	12: 81,249,032 (GRCm39)	G799S	probably damaging	Het
Sp1	T	G	15: 102,316,337 (GRCm39)	S46R	possibly damaging	Het
Spta1	A	G	1: 174,045,936 (GRCm39)		probably benign	Het
Stab1	G	A	14: 30,882,198 (GRCm39)	P499L	probably benign	Het
Trav21-dv12	C	A	14: 54,114,178 (GRCm39)	D99E	probably damaging	Het
Trpv6	T	G	6: 41,601,520 (GRCm39)	I467L	probably benign	Het
Ttc41	A	G	10: 86,548,842 (GRCm39)	Y12C	probably benign	Het
Vmn1r233	T	C	17: 21,214,698 (GRCm39)	N84S	probably benign	Het
Vrtn	T	C	12: 84,696,690 (GRCm39)	F480S	probably benign	Het
Zc3h13	C	G	14: 75,565,250 (GRCm39)	R788G	unknown	Het

Other mutations in Entpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Entpd2	APN	2	25,288,746 (GRCm39)	missense	probably benign
IGL02869:Entpd2	APN	2	25,288,120 (GRCm39)	missense	probably damaging	1.00
IGL03170:Entpd2	APN	2	25,289,493 (GRCm39)	missense	probably damaging	1.00
R1280:Entpd2	UTSW	2	25,289,496 (GRCm39)	missense	probably damaging	1.00
R2258:Entpd2	UTSW	2	25,288,099 (GRCm39)	missense	probably damaging	1.00
R2260:Entpd2	UTSW	2	25,288,099 (GRCm39)	missense	probably damaging	1.00
R2420:Entpd2	UTSW	2	25,289,295 (GRCm39)	missense	probably benign
R2566:Entpd2	UTSW	2	25,289,295 (GRCm39)	missense	probably benign	0.16
R4802:Entpd2	UTSW	2	25,289,776 (GRCm39)	splice site	probably null
R4938:Entpd2	UTSW	2	25,289,429 (GRCm39)	missense	probably benign	0.25
R5239:Entpd2	UTSW	2	25,290,830 (GRCm39)	missense	probably damaging	0.96
R5374:Entpd2	UTSW	2	25,289,738 (GRCm39)	missense	probably damaging	1.00
R5739:Entpd2	UTSW	2	25,289,504 (GRCm39)	missense	possibly damaging	0.90
R5752:Entpd2	UTSW	2	25,289,781 (GRCm39)	unclassified	probably benign
R5881:Entpd2	UTSW	2	25,290,824 (GRCm39)	missense	probably damaging	1.00
R6016:Entpd2	UTSW	2	25,288,568 (GRCm39)	missense	probably damaging	0.99
R6120:Entpd2	UTSW	2	25,289,478 (GRCm39)	missense	probably benign	0.03
R6370:Entpd2	UTSW	2	25,287,429 (GRCm39)	missense	probably damaging	1.00
R7301:Entpd2	UTSW	2	25,290,921 (GRCm39)	missense	possibly damaging	0.88
R8257:Entpd2	UTSW	2	25,288,133 (GRCm39)	missense	probably damaging	1.00
R8868:Entpd2	UTSW	2	25,289,725 (GRCm39)	missense	probably benign	0.01
R9259:Entpd2	UTSW	2	25,288,614 (GRCm39)	missense	probably damaging	1.00
R9280:Entpd2	UTSW	2	25,289,511 (GRCm39)	missense	possibly damaging	0.55
R9660:Entpd2	UTSW	2	25,288,153 (GRCm39)	missense	probably damaging	1.00
RF007:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
RF017:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
RF018:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
RF023:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
RF024:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
X0009:Entpd2	UTSW	2	25,288,691 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTTGTCTCCAATTTGGGAAGG -3'
(R):5'- AGCAGGTAGTTGGCAGTCAC -3'

Sequencing Primer
(F):5'- AATTTGGGAAGGTGTGTCTAAATAGC -3'
(R):5'- TAGTTGGCAGTCACCCAGC -3'

Posted On

2020-01-23