Mutagenetix > Incidental Mutation

Incidental Mutation 'R8257:Entpd2'

640496

Institutional Source

Beutler Lab

Gene Symbol

Entpd2

Ensembl Gene

ENSMUSG00000015085

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

Synonyms

NTPDase2, Cd39l1

MMRRC Submission

067683-MU

Accession Numbers

Essential gene?

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

Stock #

R8257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25285886-25291333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25288133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 119 (L119Q)

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: L119Q

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

SMART Domains

Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085
AA Change: L119Q

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,153 (GRCm39)	K1350R	probably benign	Het
4933407L21Rik	T	A	1: 85,859,060 (GRCm39)	C70*	probably null	Het
Akr1c6	G	A	13: 4,488,525 (GRCm39)	V97I	probably benign	Het
Alg9	A	T	9: 50,690,387 (GRCm39)	I130F	possibly damaging	Het
Ankle2	G	T	5: 110,401,781 (GRCm39)		probably null	Het
Ankrd34a	A	T	3: 96,505,045 (GRCm39)	H83L	possibly damaging	Het
Aoc1l2	A	G	6: 48,909,431 (GRCm39)	T559A	probably benign	Het
Ate1	T	C	7: 130,069,037 (GRCm39)	Y367C	probably damaging	Het
Atg9b	C	T	5: 24,591,303 (GRCm39)		probably benign	Het
Atp2c1	A	G	9: 105,308,756 (GRCm39)	S626P	probably benign	Het
Ccdc171	A	G	4: 83,614,606 (GRCm39)	N1069S	probably damaging	Het
Cdh20	A	G	1: 104,921,962 (GRCm39)	D753G	probably benign	Het
Cdk11b	A	G	4: 155,732,398 (GRCm39)	E517G	unknown	Het
Chst5	A	T	8: 112,617,092 (GRCm39)	V176E	probably damaging	Het
Ddx50	T	C	10: 62,452,299 (GRCm39)		probably benign	Het
Dspp	A	G	5: 104,324,867 (GRCm39)	D410G	probably benign	Het
Dync1h1	T	A	12: 110,602,908 (GRCm39)	V2183E	probably damaging	Het
Emilin2	A	G	17: 71,580,995 (GRCm39)	V577A	probably benign	Het
Foxa1	A	T	12: 57,589,932 (GRCm39)	M96K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
H2-Aa	T	C	17: 34,502,211 (GRCm39)	T237A	probably damaging	Het
Itih4	G	A	14: 30,609,825 (GRCm39)	V52I	possibly damaging	Het
Kntc1	T	C	5: 123,896,586 (GRCm39)		probably null	Het
Lgi4	A	T	7: 30,766,766 (GRCm39)		probably null	Het
Map4k2	G	A	19: 6,396,030 (GRCm39)	R455H	probably benign	Het
Masp2	A	G	4: 148,687,497 (GRCm39)	T95A	possibly damaging	Het
Mtmr12	T	C	15: 12,259,684 (GRCm39)	I351T	possibly damaging	Het
Ncdn	A	G	4: 126,643,676 (GRCm39)		probably null	Het
Nckipsd	A	G	9: 108,692,127 (GRCm39)	E516G	probably benign	Het
Nlrp12	A	G	7: 3,297,962 (GRCm39)	W70R	probably damaging	Het
Nmral1	T	A	16: 4,534,267 (GRCm39)	D58V	probably damaging	Het
Nr2c1	A	G	10: 94,028,769 (GRCm39)	Y522C	probably damaging	Het
Or14c45	A	G	7: 86,176,678 (GRCm39)	T238A	possibly damaging	Het
Or1e23	A	G	11: 73,407,203 (GRCm39)	M274T	probably benign	Het
Or2d3b	A	G	7: 106,513,926 (GRCm39)	I174V	probably benign	Het
Or2w1b	A	G	13: 21,300,543 (GRCm39)	N227S	probably benign	Het
Pcdhga6	T	A	18: 37,841,868 (GRCm39)	N529K	probably benign	Het
Pkmyt1	C	T	17: 23,953,148 (GRCm39)	R235W	probably benign	Het
Prss43	T	C	9: 110,659,880 (GRCm39)	S315P	possibly damaging	Het
Psmd1	T	A	1: 86,006,345 (GRCm39)	V237E	probably damaging	Het
Ptprf	A	G	4: 118,083,476 (GRCm39)	Y844H	probably damaging	Het
Ryr1	C	T	7: 28,764,064 (GRCm39)	V3089I	possibly damaging	Het
Slc1a7	A	G	4: 107,865,394 (GRCm39)	D294G	possibly damaging	Het
Slc5a10	T	A	11: 61,605,873 (GRCm39)	T148S	probably damaging	Het
Spata25	T	C	2: 164,669,690 (GRCm39)	D107G	possibly damaging	Het
Stambpl1	A	G	19: 34,208,901 (GRCm39)	E132G	probably damaging	Het
Tgfb1	A	G	7: 25,396,373 (GRCm39)	H222R	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trmt1l	T	A	1: 151,304,629 (GRCm39)	M1K	probably null	Het
Vmn2r86	A	T	10: 130,288,279 (GRCm39)	H407Q	possibly damaging	Het
Wdr36	T	A	18: 32,974,339 (GRCm39)		probably benign	Het
Zfp35	T	A	18: 24,137,288 (GRCm39)	I544N	possibly damaging	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
R8059:Entpd2	UTSW	2	25,288,096 (GRCm39)	missense	probably damaging	0.98
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'- CAATAGTGTATGCTGGAAACTGTC -3'
(R):5'- AGCAGGTAGTTGGCAGTCAC -3'

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

Posted On

2020-07-28