Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Entpd2'

513452

Institutional Source

Beutler Lab

Gene Symbol

Entpd2

Ensembl Gene

ENSMUSG00000015085

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

Synonyms

NTPDase2, Cd39l1

MMRRC Submission

044520-MU

Accession Numbers

Essential gene?

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

Stock #

R6370 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25285886-25291333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25287429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 47 (G47S)

Ref Sequence

ENSEMBL: ENSMUSP00000028328 (fasta)

Gene Model

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

AlphaFold

O55026

Predicted Effect

probably damaging
Transcript: ENSMUST00000028328
AA Change: G47S

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

SMART Domains

Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085
AA Change: G47S

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

noncoding transcript
Transcript: ENSMUST00000124277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148859

Meta Mutation Damage Score

0.8989

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,717,024 (GRCm39)	V67A	probably damaging	Het
Atic	T	A	1: 71,617,819 (GRCm39)	F590I	probably damaging	Het
Atxn10	T	C	15: 85,277,586 (GRCm39)	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,842,583 (GRCm39)	N92S	probably benign	Het
Carm1	G	T	9: 21,498,815 (GRCm39)	A518S	probably benign	Het
Ccar1	C	T	10: 62,600,308 (GRCm39)	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,750,065 (GRCm39)	L96Q	probably damaging	Het
Chrnb4	A	G	9: 54,942,143 (GRCm39)	L377S	probably benign	Het
Clcn3	A	G	8: 61,376,058 (GRCm39)	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,991,050 (GRCm39)	M717I	probably benign	Het
Ctcf	T	C	8: 106,390,852 (GRCm39)	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,462,783 (GRCm39)	S222P	probably benign	Het
Dixdc1	A	T	9: 50,593,523 (GRCm39)		probably null	Het
Erbb3	A	G	10: 128,405,943 (GRCm39)	M1158T	possibly damaging	Het
Faah	T	C	4: 115,860,253 (GRCm39)	D333G	probably damaging	Het
Foxred2	T	A	15: 77,827,506 (GRCm39)	T618S	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpx5	A	T	13: 21,472,872 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,646,334 (GRCm39)	V98A	probably damaging	Het
Hal	T	C	10: 93,333,368 (GRCm39)	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,200,519 (GRCm39)	Y41C	unknown	Het
Larp6	A	G	9: 60,644,646 (GRCm39)	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,546,185 (GRCm39)	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,056,906 (GRCm39)	V244A	probably benign	Het
Mfrp	T	C	9: 44,017,558 (GRCm39)	C517R	probably damaging	Het
Mtarc1	T	C	1: 184,527,689 (GRCm39)	D257G	probably damaging	Het
Ncoa3	T	C	2: 165,907,825 (GRCm39)	S1145P	probably benign	Het
Nosip	G	T	7: 44,726,164 (GRCm39)		probably null	Het
Or4c100	T	A	2: 88,329,712 (GRCm39)	C94*	probably null	Het
Or51f2	A	T	7: 102,526,377 (GRCm39)	T17S	probably benign	Het
Or52n1	T	C	7: 104,383,124 (GRCm39)	K149R	probably benign	Het
Phykpl	T	C	11: 51,477,543 (GRCm39)	S112P	probably damaging	Het
Pik3cb	A	T	9: 98,922,987 (GRCm39)	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,155,973 (GRCm39)	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,655,293 (GRCm39)	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,367,904 (GRCm39)	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Rxrg	T	C	1: 167,462,006 (GRCm39)	V227A	probably damaging	Het
Satb1	A	T	17: 52,089,825 (GRCm39)	S341T	possibly damaging	Het
Skint5	T	G	4: 113,471,307 (GRCm39)	Q983P	unknown	Het
Slc6a18	G	A	13: 73,816,278 (GRCm39)	T367I	probably benign	Het
Slc7a1	A	G	5: 148,277,483 (GRCm39)	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,922,069 (GRCm39)	F399I	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,847,774 (GRCm39)	V208A	probably benign	Het
Syt3	A	G	7: 44,045,107 (GRCm39)	K480E	probably damaging	Het
Thop1	C	T	10: 80,913,817 (GRCm39)	T186I	probably benign	Het
Trim55	G	A	3: 19,745,650 (GRCm39)	E509K	possibly damaging	Het
Upf2	A	G	2: 5,980,821 (GRCm39)	N469S	unknown	Het
Usp24	G	T	4: 106,237,718 (GRCm39)	K1125N	probably null	Het
Usp5	A	T	6: 124,797,391 (GRCm39)	D494E	probably benign	Het
Vmn2r51	T	C	7: 9,832,143 (GRCm39)	K481R	probably damaging	Het
Vps16	C	A	2: 130,285,304 (GRCm39)	A787D	probably damaging	Het
Washc4	C	T	10: 83,407,226 (GRCm39)	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 32,790,807 (GRCm39)	A2053S	probably benign	Het
Zfp74	A	T	7: 29,631,835 (GRCm39)	D136E	probably 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
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
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'- GGTATCAACACAGGAAGTCACC -3'
(R):5'- GAACTCCTGCCTTGAATGGG -3'

Sequencing Primer
(F):5'- GGAAGTCACCTAGTCAGTCCC -3'
(R):5'- TTGAATGGGCCCCACCTAG -3'

Posted On

2018-04-27